Henry Houlden

Affiliations
  • Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.

Publications (94)

Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.

Brain : a journal of neurology
Avec: Pauline E Schneeberger , Fanny Kortüm , Georg Christoph Korenke , Malik Alawi , René Santer , Mathias Woidy , Daniela Buhas , Stephanie Fox , Jane Juusola , Majid Alfadhel , Bryn D Webb , Emanuele G Coci , Rami Abou Jamra , Manuela Siekmeyer , Saskia Biskup , Corina Heller , Esther M Maier , Poupak Javaher-Haghighi , Maria F Bedeschi , Paola F Ajmone , Maria Iascone , Hilde Peeters , Katleen Ballon , Jaak Jaeken , Aroa Rodríguez Alonso , María Palomares-Bralo , Fernando Santos-Simarro , Marije E C Meuwissen , Diane Beysen , R Frank Kooy , Henry Houlden , David Murphy , Mohammad Doosti , Ehsan G Karimiani , Majid Mojarrad , Reza Maroofian , Lenka Noskova , Stanislav Kmoch , Tomas Honzik , Heidi Cope , Amarilis Sanchez-Valle , Auteur inconnu , Bruce D Gelb , Ingo Kurth , Maja Hempel , Kerstin Kutsche

Investigation of somatic CNVs in brains of synucleinopathy cases using targeted SNCA analysis and single cell sequencing.

Acta neuropathologica communications
Avec: Diego Perez-Rodriguez , Maria Kalyva , Melissa Leija-Salazar , Tammaryn Lashley , Maxime Tarabichi , Viorica Chelban , Steve Gentleman , Lucia Schottlaender , Hannah Franklin , George Vasmatzis , Henry Houlden , Anthony H V Schapira , Thomas T Warner , Janice L Holton , Zane Jaunmuktane , Christos Proukakis

Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy.

American journal of human genetics
Avec: Thi Tuyet Mai Nguyen , Yoshiko Murakami , Sabrina Mobilio , Marcello Niceta , Giuseppe Zampino , Christophe Philippe , Sébastien Moutton , Maha S Zaki , Kiely N James , Damir Musaev , Weiyi Mu , Kristin Baranano , Jessica R Nance , Jill A Rosenfeld , Nancy Braverman , Andrea Ciolfi , Francisca Millan , Richard E Person , Ange-Line Bruel , Christel Thauvin-Robinet , Athina Ververi , Catherine DeVile , Alison Male , Stephanie Efthymiou , Reza Maroofian , Henry Houlden , Shazia Maqbool , Fatima Rahman , Nissan V Baratang , Justine Rousseau , Anik St-Denis , Matthew J Elrick , Irina Anselm , Lance H Rodan , Marco Tartaglia , Joseph Gleeson , Taroh Kinoshita , Philippe M Campeau

Baseline factors associated with early and late death in intracerebral haemorrhage survivors.

European journal of neurology
Avec: G Banerjee , G Ambler , D Wilson , I C Hostettler , C Shakeshaft , S Lunawat , H Cohen , T Yousry , R Al-Shahi Salman , G Y H Lip , H Houlden , K W Muir , M M Brown , H R Jäger , D J Werring , Auteur inconnu

Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content.

Human molecular genetics
Avec: Rosa Woldegebriel , Jouni Kvist , Noora Andersson , Katrin Õunap , Karit Reinson , Monica H Wojcik , Emilia K Bijlsma , Mariëtte J V Hoffer , Monique M Ryan , Zornitza Stark , Maie Walsh , Inge Cuppen , Marie-Jose H van den Boogaard , Diana Bharucha-Goebel , Sandra Donkervoort , Sara Winchester , Roberto Zori , Carsten G Bönnemann , Reza Maroofian , Emer O'Connor , Henry Houlden , Fang Zhao , Olli Carpén , Matthew White , Jemeen Sreedharan , Murray Stewart , Emil Ylikallio , Henna Tyynismaa

Neurology. Genetics
Avec: Viorica Chelban , Miryam Carecchio , Gillian Rea , Abdalla Bowirrat , Salman Kirmani , Luca Magistrelli , Stephanie Efthymiou , Lucia Schottlaender , Jana Vandrovcova , Vincenzo Salpietro , Ettore Salsano , Davide Pareyson , Luisa Chiapparini , Farida Jan , Shahnaz Ibrahim , Fatima Khan , Zul Qarnain , Stanislav Groppa , Nin Bajaj , Bettina Balint , Kailash P Bhatia , Andrew Lees , Patrick J Morrison , Nicholas W Wood , Barbara Garavaglia , Henry Houlden

Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities.

Annals of neurology
Avec: Dora Steel , Michael Zech , Chen Zhao , Katy E S Barwick , Derek Burke , Diane Demailly , Kishore R Kumar , Giovanna Zorzi , Nardo Nardocci , Rauan Kaiyrzhanov , Matias Wagner , Arcangela Iuso , Riccardo Berutti , Matej Škorvánek , Ján Necpál , Ryan Davis , Sarah Wiethoff , Kshitij Mankad , Sniya Sudhakar , Arianna Ferrini , Suvasini Sharma , Erik-Jan Kamsteeg , Marina A Tijssen , Corien Verschuuren , Martje E van Egmond , Joanna M Flowers , Meriel McEntagart , Arianna Tucci , Philippe Coubes , Bernabe I Bustos , Paulina Gonzalez-Latapi , Stephen Tisch , Paul Darveniza , Kathleen M Gorman , Kathryn J Peall , Kai Bötzel , Jan C Koch , Tomasz Kmieć , Barbara Plecko , Sylvia Boesch , Bernhard Haslinger , Robert Jech , Barbara Garavaglia , Nick Wood , Henry Houlden , Paul Gissen , Steven J Lubbe , Carolyn M Sue , Laura Cif , Niccolò E Mencacci , Glenn Anderson , Manju A Kurian , Juliane Winkelmann , Auteur inconnu

Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder.

American journal of human genetics
Avec: Caroline M Dias , Jaya Punetha , Céline Zheng , Neda Mazaheri , Abolfazl Rad , Stephanie Efthymiou , Andrea Petersen , Mohammadreza Dehghani , Davut Pehlivan , Jennifer N Partlow , Jennifer E Posey , Vincenzo Salpietro , Alper Gezdirici , Reza Azizi Malamiri , Nihal M Al Menabawy , Laila A Selim , Mohammad Yahya Vahidi Mehrjardi , Selina Banu , Daniel L Polla , Edward Yang , Jamileh Rezazadeh Varaghchi , Tadahiro Mitani , Ellen van Beusekom , Maryam Najafi , Alireza Sedaghat , Jennifer Keller-Ramey , Leslie Durham , Zeynep Coban-Akdemir , Ender Karaca , Valeria Orlova , Lieke L M Schaeken , Amir Sherafat , Shalini N Jhangiani , Valentina Stanley , Gholamreza Shariati , Hamid Galehdari , Joseph G Gleeson , Christopher A Walsh , James R Lupski , Elena Seiradake , Henry Houlden , Hans van Bokhoven , Reza Maroofian

Genotype-Phenotype Correlations in Charcot-Marie-Tooth Disease Due to

Frontiers in neuroscience
Avec: Haicui Wang , Ayşe Kaçar Bayram , Rosanne Sprute , Ozkan Ozdemir , Emily Cooper , Matthias Pergande , Stephanie Efthymiou , Ivana Nedic , Neda Mazaheri , Katharina Stumpfe , Reza Azizi Malamiri , Gholamreza Shariati , Jawaher Zeighami , Nurettin Bayram , Seyed Kianoosh Naghibzadeh , Mohamad Tajik , Mehmet Yaşar , Ahmet Sami Güven , Farah Bibi , Tipu Sultan , Vincenzo Salpietro , Henry Houlden , Hüseyin Per , Hamid Galehdari , Bita Shalbafan , Yalda Jamshidi , Sebahattin Cirak

Microdeletion in a FAAH pseudogene identified in a patient with high anandamide concentrations and pain insensitivity.

British journal of anaesthesia
Avec: Abdella M Habib , Andrei L Okorokov , Matthew N Hill , Jose T Bras , Man-Cheung Lee , Shengnan Li , Samuel J Gossage , Marie van Drimmelen , Maria Morena , Henry Houlden , Juan D Ramirez , David L H Bennett , Devjit Srivastava , James J Cox

Spinocerebellar ataxia: an update.

Journal of neurology
Avec: Roisin Sullivan , Wai Yan Yau , Emer O'Connor , Henry Houlden

WARS2 mutations cause dopa-responsive early-onset parkinsonism and progressive myoclonus ataxia.

Parkinsonism & related disorders
Avec: Matej Skorvanek , Irena Rektorova , Wim Mandemakers , Matias Wagner , Robert Steinfeld , Laura Orec , Vladimir Han , Petra Pavelekova , Alexandra Lackova , Kristina Kulcsarova , Miriam Ostrozovicova , Zuzana Gdovinova , Barbara Plecko , Theresa Brunet , Riccardo Berutti , Demy J S Kuipers , Valerie Boumeester , Petra Havrankova , M A J Tijssen , Rauan Kaiyrzhanov , Mie Rizig , Henry Houlden , Juliane Winkelmann , Vincenzo Bonifati , Michael Zech , Robert Jech

Motor neuron pathology in CANVAS due to RFC1 expansions.

Brain : a journal of neurology
Avec: Vincent Huin , Giulia Coarelli , Clément Guemy , Susana Boluda , Rabab Debs , Fanny Mochel , Tanya Stojkovic , David Grabli , Thierry Maisonobe , Bertrand Gaymard , Timothée Lenglet , Céline Tard , Jean Baptiste Davion , Bernard Sablonnière , Marie Lorraine Monin , Claire Ewenczyk , Karine Viala , Perrine Charles , Isabelle Le Ber , Mary M Reilly , Henry Houlden , Andrea Cortese , Danielle Seilhean , Alexis Brice , Alexandra Durr

Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene.

Neurogenetics
Avec: Berardo Rinaldi , Yu-Han Ge , Elena Freri , Arianna Tucci , Tiziana Granata , Margherita Estienne , Jia-Hui Sun , Bénédicte Gérard , Allan Bayat , Stephanie Efthymiou , Cristina Gervasini , Yun Stone Shi , Henry Houlden , Paola Marchisio , Donatella Milani

100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.

The New England journal of medicine
Avec: Auteur inconnu , Damian Smedley , Katherine R Smith , Antonio Martin , Ellen A Thomas , Ellen M McDonagh , Valentina Cipriani , Jamie M Ellingford , Gavin Arno , Arianna Tucci , Jana Vandrovcova , Georgia Chan , Hywel J Williams , Thiloka Ratnaike , Wei Wei , Kathleen Stirrups , Kristina Ibanez , Loukas Moutsianas , Matthias Wielscher , Anna Need , Michael R Barnes , Letizia Vestito , James Buchanan , Sarah Wordsworth , Sofie Ashford , Karola Rehmström , Emily Li , Gavin Fuller , Philip Twiss , Olivera Spasic-Boskovic , Sally Halsall , R Andres Floto , Kenneth Poole , Annette Wagner , Sarju G Mehta , Mark Gurnell , Nigel Burrows , Roger James , Christopher Penkett , Eleanor Dewhurst , Stefan Gräf , Rutendo Mapeta , Mary Kasanicki , Andrea Haworth , Helen Savage , Melanie Babcock , Martin G Reese , Mark Bale , Emma Baple , Christopher Boustred , Helen Brittain , Anna de Burca , Marta Bleda , Andrew Devereau , Dina Halai , Eik Haraldsdottir , Zerin Hyder , Dalia Kasperaviciute , Christine Patch , Dimitris Polychronopoulos , Angela Matchan , Razvan Sultana , Mina Ryten , Ana L T Tavares , Carolyn Tregidgo , Clare Turnbull , Matthew Welland , Suzanne Wood , Catherine Snow , Eleanor Williams , Sarah Leigh , Rebecca E Foulger , Louise C Daugherty , Olivia Niblock , Ivone U S Leong , Caroline F Wright , Jim Davies , Charles Crichton , James Welch , Kerrie Woods , Lara Abulhoul , Paul Aurora , Detlef Bockenhauer , Alexander Broomfield , Maureen A Cleary , Tanya Lam , Mehul Dattani , Emma Footitt , Vijeya Ganesan , Stephanie Grunewald , Sandrine Compeyrot-Lacassagne , Francesco Muntoni , Clarissa Pilkington , Rosaline Quinlivan , Nikhil Thapar , Colin Wallis , Lucy R Wedderburn , Austen Worth , Teofila Bueser , Cecilia Compton , Charu Deshpande , Hiva Fassihi , Eshika Haque , Louise Izatt , Dragana Josifova , Shehla Mohammed , Leema Robert , Sarah Rose , Deborah Ruddy , Robert Sarkany , Genevieve Say , Adam C Shaw , Agata Wolejko , Bishoy Habib , Gavin Burns , Sarah Hunter , Russell J Grocock , Sean J Humphray , Peter N Robinson , Melissa Haendel , Michael A Simpson , Siddharth Banka , Jill Clayton-Smith , Sofia Douzgou , Georgina Hall , Huw B Thomas , Raymond T O'Keefe , Michel Michaelides , Anthony T Moore , Sam Malka , Nikolas Pontikos , Andrew C Browning , Volker Straub , Gráinne S Gorman , Rita Horvath , Richard Quinton , Andrew M Schaefer , Patrick Yu-Wai-Man , Doug M Turnbull , Robert McFarland , Robert W Taylor , Emer O'Connor , Janice Yip , Katrina Newland , Huw R Morris , James Polke , Nicholas W Wood , Carolyn Campbell , Carme Camps , Kate Gibson , Nils Koelling , Tracy Lester , Andrea H Németh , Claire Palles , Smita Patel , Noemi B A Roy , Arjune Sen , John Taylor , Pilar Cacheiro , Julius O Jacobsen , Eleanor G Seaby , Val Davison , Lyn Chitty , Angela Douglas , Kikkeri Naresh , Dom McMullan , Sian Ellard , I Karen Temple , Andrew D Mumford , Gill Wilson , Phil Beales , Maria Bitner-Glindzicz , Graeme Black , John R Bradley , Paul Brennan , John Burn , Patrick F Chinnery , Perry Elliott , Frances Flinter , Henry Houlden , Melita Irving , William Newman , Shamima Rahman , John A Sayer , Jenny C Taylor , Andrew R Webster , Andrew O M Wilkie , Willem H Ouwehand , F Lucy Raymond , John Chisholm , Sue Hill , David Bentley , Richard H Scott , Tom Fowler , Augusto Rendon , Mark Caulfield

Enrichment of

eLife
Avec: Jonathan Gilley , Oscar Jackson , Menelaos Pipis , Mehrdad A Estiar , Ammar Al-Chalabi , Matt C Danzi , Kristel R van Eijk , Stephen A Goutman , Matthew B Harms , Henry Houlden , Alfredo Iacoangeli , Julia Kaye , Leandro Lima , Auteur inconnu , John Ravits , Guy A Rouleau , Rebecca Schüle , Jishu Xu , Stephan Züchner , Johnathan Cooper-Knock , Ziv Gan-Or , Mary M Reilly , Michael P Coleman

Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome.

Journal of medical genetics
Avec: Pasquelena De Nittis , Stephanie Efthymiou , Alexandre Sarre , Nicolas Guex , Jacqueline Chrast , Audrey Putoux , Tipu Sultan , Javeria Raza Alvi , Zia Ur Rahman , Faisal Zafar , Nuzhat Rana , Fatima Rahman , Najwa Anwar , Shazia Maqbool , Maha S Zaki , Joseph G Gleeson , David Murphy , Hamid Galehdari , Gholamreza Shariati , Neda Mazaheri , Alireza Sedaghat , Auteur inconnu , Gaetan Lesca , Nicolas Chatron , Vincenzo Salpietro , Marilena Christoforou , Henry Houlden , William F Simonds , Thierry Pedrazzini , Reza Maroofian , Alexandre Reymond

Negative screening for 12 rare LRRK2 pathogenic variants in a cohort of Nigerians with Parkinson's disease.

Neurobiology of aging
Avec: Mie Rizig , Oluwadamilola O Ojo , Alkyoni Athanasiou-Fragkouli , Osigwe P Agabi , Olajumoke O Oshinaike , Henry Houlden , Njideka U Okubadejo

RFC1 expansions are a common cause of idiopathic sensory neuropathy.

Brain : a journal of neurology
Avec: Riccardo Currò , Alessandro Salvalaggio , Stefano Tozza , Chiara Gemelli , Natalia Dominik , Valentina Galassi Deforie , Francesca Magrinelli , Francesca Castellani , Elisa Vegezzi , Pietro Businaro , Ilaria Callegari , Anna Pichiecchio , Giuseppe Cosentino , Enrico Alfonsi , Enrico Marchioni , Silvia Colnaghi , Simone Gana , Enza Maria Valente , Cristina Tassorelli , Stephanie Efthymiou , Stefano Facchini , Aisling Carr , Matilde Laura , Alexander M Rossor , Hadi Manji , Michael P Lunn , Elena Pegoraro , Lucio Santoro , Marina Grandis , Emilia Bellone , Nicholas J Beauchamp , Marios Hadjivassiliou , Diego Kaski , Adolfo M Bronstein , Henry Houlden , Mary M Reilly , Paola Mandich , Angelo Schenone , Fiore Manganelli , Chiara Briani , Andrea Cortese

Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder.

Nature communications
Avec: Sukhleen Kour , Deepa S Rajan , Tyler R Fortuna , Eric N Anderson , Caroline Ward , Youngha Lee , Sangmoon Lee , Yong Beom Shin , Jong-Hee Chae , Murim Choi , Karine Siquier , Vincent Cantagrel , Jeanne Amiel , Elliot S Stolerman , Sarah S Barnett , Margot A Cousin , Diana Castro , Kimberly McDonald , Brian Kirmse , Andrea H Nemeth , Dhivyaa Rajasundaram , A Micheil Innes , Danielle Lynch , Patrick Frosk , Abigail Collins , Melissa Gibbons , Michele Yang , Isabelle Desguerre , Nathalie Boddaert , Cyril Gitiaux , Siri Lynne Rydning , Kaja K Selmer , Roser Urreizti , Alberto Garcia-Oguiza , Andrés Nascimento Osorio , Edgard Verdura , Aurora Pujol , Hannah R McCurry , John E Landers , Sameer Agnihotri , E Corina Andriescu , Shade B Moody , Chanika Phornphutkul , Maria J Guillen Sacoto , Amber Begtrup , Henry Houlden , Janbernd Kirschner , David Schorling , Sabine Rudnik-Schöneborn , Tim M Strom , Steffen Leiz , Kali Juliette , Randal Richardson , Ying Yang , Yuehua Zhang , Minghui Wang , Jia Wang , Xiaodong Wang , Konrad Platzer , Sandra Donkervoort , Carsten G Bönnemann , Matias Wagner , Mahmoud Y Issa , Hasnaa M Elbendary , Valentina Stanley , Reza Maroofian , Joseph G Gleeson , Maha S Zaki , Jan Senderek , Udai Bhan Pandey

Allelic and phenotypic heterogeneity in Junctophillin-3 related neurodevelopmental and movement disorders.

European journal of human genetics : EJHG
Avec: Thomas Bourinaris , Alkyoni Athanasiou , Stephanie Efthymiou , Sarah Wiethoff , Vincenzo Salpietro , Henry Houlden

Shared Genetics of Multiple System Atrophy and Inflammatory Bowel Disease.

Movement disorders : official journal of the Movement Disorder Society
Avec: Alexey A Shadrin , Sören Mucha , David Ellinghaus , Mary B Makarious , Cornelis Blauwendraat , Ashwin A K Sreelatha , Antonio Heras-Garvin , Jinhui Ding , Monia Hammer , Alexandra Foubert-Samier , Wassilios G Meissner , Olivier Rascol , Anne Pavy-Le Traon , Oleksandr Frei , Kevin S O'Connell , Shahram Bahrami , Stefan Schreiber , Wolfgang Lieb , Martina Müller-Nurasyid , Ulf Schminke , Georg Homuth , Carsten O Schmidt , Markus M Nöthen , Per Hoffmann , Christian Gieger , Gregor Wenning , Auteur inconnu , J Raphael Gibbs , Andre Franke , John Hardy , Nadia Stefanova , Thomas Gasser , Andrew Singleton , Henry Houlden , Sonja W Scholz , Ole A Andreassen , Manu Sharma

A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families.

Brain : a journal of neurology
Avec: Carolin K Scriba , Sarah J Beecroft , Joshua S Clayton , Andrea Cortese , Roisin Sullivan , Wai Yan Yau , Natalia Dominik , Miriam Rodrigues , Elizabeth Walker , Zoe Dyer , Teddy Y Wu , Mark R Davis , David C Chandler , Ben Weisburd , Henry Houlden , Mary M Reilly , Nigel G Laing , Phillipa J Lamont , Richard H Roxburgh , Gianina Ravenscroft

An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy.

Brain : a journal of neurology
Avec: Alistair T Pagnamenta , Rauan Kaiyrzhanov , Yaqun Zou , Sahar I Da'as , Reza Maroofian , Sandra Donkervoort , Natalia Dominik , Marlen Lauffer , Matteo P Ferla , Andrea Orioli , Adam Giess , Arianna Tucci , Christian Beetz , Maryam Sedghi , Behnaz Ansari , Rita Barresi , Keivan Basiri , Andrea Cortese , Greg Elgar , Miguel A Fernandez-Garcia , Janice Yip , A Reghan Foley , Nicholas Gutowski , Heinz Jungbluth , Saskia Lassche , Tim Lavin , Carlo Marcelis , Peter Marks , Chiara Marini-Bettolo , Livija Medne , Ali-Reza Moslemi , Anna Sarkozy , Mary M Reilly , Francesco Muntoni , Francisca Millan , Colleen C Muraresku , Anna C Need , Andrea H Nemeth , Sarah B Neuhaus , Fiona Norwood , Marie O'Donnell , Mary O'Driscoll , Julia Rankin , Sabrina W Yum , Zarazuela Zolkipli-Cunningham , Isabell Brusius , Gilbert Wunderlich , Auteur inconnu , Mert Karakaya , Brunhilde Wirth , Khalid A Fakhro , Homa Tajsharghi , Carsten G Bönnemann , Jenny C Taylor , Henry Houlden

Novel NDUFA12 variants are associated with isolated complex I defect and variable clinical manifestation.

Human mutation
Avec: Alessandra Torraco , Alessia Nasca , Daniela Verrigni , Alessandra Pennisi , Maha S Zaki , Giorgia Olivieri , Zahra Assouline , Diego Martinelli , Reza Maroofian , Teresa Rizza , Michela Di Nottia , Federica Invernizzi , Eleonora Lamantea , Daniela Longo , Henry Houlden , Holger Prokisch , Agnès Rötig , Carlo Dionisi-Vici , Enrico Bertini , Daniele Ghezzi , Rosalba Carrozzo , Daria Diodato

De novo mutation in

Journal of neurogenetics
Avec: Antonio Gennaro Nicotera , Daniela Dicanio , Erica Pironti , Maria Bonsignore , Anna Cafeo , Stephanie Efthymiou , Patrizia Mondello , Vincenzo Salpietro , Henry Houlden , Gabriella Di Rosa

Cerebral Small Vessel Disease and Functional Outcome Prediction After Intracerebral Hemorrhage.

Neurology
Avec: Isabel C Hostettler , Ghil Schwarz , Gareth Ambler , Duncan Wilson , Gargi Banerjee , David J Seiffge , Clare Shakeshaft , Surabhika Lunawat , Hannah Cohen , Tarek A Yousry , Rustam Al-Shahi Salman , Gregory Y H Lip , Martin M Brown , Keith W Muir , Henry Houlden , Hans Rolf Jäger , David J Werring , Auteur inconnu

Uniparental isodisomy of chromosome 2 causing MRPL44-related multisystem mitochondrial disease.

Molecular biology reports
Avec: Alejandro Horga , Andreea Manole , Alice L Mitchell , Enrico Bugiardini , Iain P Hargreaves , Walied Mowafi , Conceição Bettencourt , Emma L Blakely , Langping He , James M Polke , Catherine E Woodward , Ilaria Dalla Rosa , Sachit Shah , Alan M Pittman , Ros Quinlivan , Mary M Reilly , Robert W Taylor , Ian J Holt , Michael G Hanna , Robert D S Pitceathly , Antonella Spinazzola , Henry Houlden

Genome-wide association study of intracranial aneurysms identifies 17 risk loci and genetic overlap with clinical risk factors.

Nature genetics
Avec: Mark K Bakker , Rick A A van der Spek , Wouter van Rheenen , Sandrine Morel , Romain Bourcier , Isabel C Hostettler , Varinder S Alg , Kristel R van Eijk , Masaru Koido , Masato Akiyama , Chikashi Terao , Koichi Matsuda , Robin G Walters , Kuang Lin , Liming Li , Iona Y Millwood , Zhengming Chen , Guy A Rouleau , Sirui Zhou , Kristiina Rannikmäe , Cathie L M Sudlow , Henry Houlden , Leonard H van den Berg , Christian Dina , Olivier Naggara , Jean-Christophe Gentric , Eimad Shotar , François Eugène , Hubert Desal , Bendik S Winsvold , Sigrid Børte , Marianne Bakke Johnsen , Ben M Brumpton , Marie Søfteland Sandvei , Cristen J Willer , Kristian Hveem , John-Anker Zwart , W M Monique Verschuren , Christoph M Friedrich , Sven Hirsch , Sabine Schilling , Jérôme Dauvillier , Olivier Martin , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Gregory T Jones , Matthew J Bown , Nerissa U Ko , Helen Kim , Jonathan R I Coleman , Gerome Breen , Jonathan G Zaroff , Catharina J M Klijn , Rainer Malik , Martin Dichgans , Muralidharan Sargurupremraj , Turgut Tatlisumak , Philippe Amouyel , Stéphanie Debette , Gabriel J E Rinkel , Bradford B Worrall , Joanna Pera , Agnieszka Slowik , Emília I Gaál-Paavola , Mika Niemelä , Juha E Jääskeläinen , Mikael von Und Zu Fraunberg , Antti Lindgren , Joseph P Broderick , David J Werring , Daniel Woo , Richard Redon , Philippe Bijlenga , Yoichiro Kamatani , Jan H Veldink , Ynte M Ruigrok

NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease.

Nature communications
Avec: Paige B Martin , Yu Kigoshi-Tansho , Roger B Sher , Gianina Ravenscroft , Jennifer E Stauffer , Rajesh Kumar , Ryo Yonashiro , Tina Müller , Christopher Griffith , William Allen , Davut Pehlivan , Tamar Harel , Martin Zenker , Denise Howting , Denny Schanze , Eissa A Faqeih , Naif A M Almontashiri , Reza Maroofian , Henry Houlden , Neda Mazaheri , Hamid Galehdari , Ganka Douglas , Jennifer E Posey , Monique Ryan , James R Lupski , Nigel G Laing , Claudio A P Joazeiro , Gregory A Cox

Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Gabriel C Dworschak , Jaya Punetha , Jeshurun C Kalanithy , Enrico Mingardo , Haktan B Erdem , Zeynep C Akdemir , Ender Karaca , Tadahiro Mitani , Dana Marafi , Jawid M Fatih , Shalini N Jhangiani , Jill V Hunter , Tikam Chand Dakal , Bhanupriya Dhabhai , Omar Dabbagh , Hessa S Alsaif , Fowzan S Alkuraya , Reza Maroofian , Henry Houlden , Stephanie Efthymiou , Natalia Dominik , Vincenzo Salpietro , Tipu Sultan , Shahzad Haider , Farah Bibi , Holger Thiele , Julia Hoefele , Korbinian M Riedhammer , Matias Wagner , Ilaria Guella , Michelle Demos , Boris Keren , Julien Buratti , Perrine Charles , Caroline Nava , Delphine Héron , Solveig Heide , Elise Valkanas , Leigh B Waddell , Kristi J Jones , Emily C Oates , Sandra T Cooper , Daniel MacArthur , Steffen Syrbe , Andreas Ziegler , Konrad Platzer , Volkan Okur , Wendy K Chung , Sarah A O'Shea , Roy Alcalay , Stanley Fahn , Paul R Mark , Renzo Guerrini , Annalisa Vetro , Beth Hudson , Rhonda E Schnur , George E Hoganson , Jennifer E Burton , Meriel McEntagart , Tobias Lindenberg , Öznur Yilmaz , Benjamin Odermatt , Davut Pehlivan , Jennifer E Posey , James R Lupski , Heiko Reutter

Homozygous SCN1B variants causing early infantile epileptic encephalopathy 52 affect voltage-gated sodium channel function.

Epilepsia
Avec: Marcello Scala , Stephanie Efthymiou , Tipu Sultan , Jolien De Waele , Marta Panciroli , Vincenzo Salpietro , Reza Maroofian , Pasquale Striano , Filip Van Petegem , Henry Houlden , Frank Bosmans

Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS): genetic and clinical aspects.

Practical neurology
Avec: Andrea Cortese , Riccardo Curro' , Elisa Vegezzi , Wai Yan Yau , Henry Houlden , Mary M Reilly

Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Sheng-Jia Lin , Barbara Vona , Patricia G Barbalho , Rauan Kaiyrzhanov , Reza Maroofian , Cassidy Petree , Mariasavina Severino , Valentina Stanley , Pratishtha Varshney , Paulina Bahena , Fatema Alzahrani , Amal Alhashem , Alistair T Pagnamenta , Gudrun Aubertin , Juvianee I Estrada-Veras , Héctor Adrián Díaz Hernández , Neda Mazaheri , Andrea Oza , Jenny Thies , Deborah L Renaud , Sanmati Dugad , Jennifer McEvoy , Tipu Sultan , Lynn S Pais , Brahim Tabarki , Daniel Villalobos-Ramirez , Aboulfazl Rad , Auteur inconnu , Hamid Galehdari , Farah Ashrafzadeh , Afsaneh Sahebzamani , Kolsoum Saeidi , Erin Torti , Houda Z Elloumi , Sara Mora , Timothy B Palculict , Hui Yang , Jonathan D Wren , Ben Fowler , Manali Joshi , Martine Behra , Shawn M Burgess , Swapan K Nath , Michael G Hanna , Margaret Kenna , J Lawrence Merritt , Henry Houlden , Ehsan Ghayoor Karimiani , Maha S Zaki , Thomas Haaf , Fowzan S Alkuraya , Joseph G Gleeson , Gaurav K Varshney

Genome-Wide Association Study of Clinical Outcome After Aneurysmal Subarachnoid Haemorrhage: Protocol.

Translational stroke research
Avec: Ben Gaastra , Sheila Alexander , Mark K Bakker , Hemant Bhagat , Philippe Bijlenga , Spiros Blackburn , Malie K Collins , Sylvain Doré , Christoph Griessenauer , Philipp Hendrix , Eun Pyo Hong , Isabel C Hostettler , Henry Houlden , Koji IIhara , Jin Pyeong Jeon , Bong Jun Kim , Munish Kumar , Sandrine Morel , Paul Nyquist , Dianxu Ren , Ynte M Ruigrok , David Werring , Ian Galea , Diederik Bulters , Will Tapper

A complex epileptic and dysmorphic phenotype associated with a novel frameshift KDM5B variant and deletion of SCN gene cluster.

Seizure
Avec: Giuseppe Donato Mangano , Vincenzo Antona , Elisa Calì , Antonina Fontana , Vincenzo Salpietro , Henry Houlden , Pierangelo Veggiotti , Rosaria Nardello

Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study.

The Lancet. Neurology
Avec: Kristina Ibañez , James Polke , R Tanner Hagelstrom , Egor Dolzhenko , Dorota Pasko , Ellen Rachel Amy Thomas , Louise C Daugherty , Dalia Kasperaviciute , Katherine R Smith , Auteur inconnu , Zandra C Deans , Sue Hill , Tom Fowler , Richard H Scott , John Hardy , Patrick F Chinnery , Henry Houlden , Augusto Rendon , Mark J Caulfield , Michael A Eberle , Ryan J Taft , Arianna Tucci , Auteur inconnu

Comprehensive genetic diagnosis of tandem repeat expansion disorders with programmable targeted nanopore sequencing.

Science advances
Avec: Igor Stevanovski , Sanjog R Chintalaphani , Hasindu Gamaarachchi , James M Ferguson , Sandy S Pineda , Carolin K Scriba , Michel Tchan , Victor Fung , Karl Ng , Andrea Cortese , Henry Houlden , Carol Dobson-Stone , Lauren Fitzpatrick , Glenda Halliday , Gianina Ravenscroft , Mark R Davis , Nigel G Laing , Avi Fellner , Marina Kennerson , Kishore R Kumar , Ira W Deveson

Epileptic Phenotypes Associated With SNAREs and Related Synaptic Vesicle Exocytosis Machinery.

Frontiers in neurology
Avec: Elisa Cali , Clarissa Rocca , Vincenzo Salpietro , Henry Houlden

Biallelic KITLG variants lead to a distinct spectrum of hypomelanosis and sensorineural hearing loss.

Journal of the European Academy of Dermatology and Venereology : JEADV
Avec: B Vona , D A Schwartzbaum , A A Rodriguez , S S Lewis , M B Toosi , P Radhakrishnan , N Bozan , R Akın , M Doosti , R Manju , D Duman , C J Sineni , S Nampoothiri , E G Karimiani , H Houlden , G Bademci , M Tekin , K M Girisha , R Maroofian , S Douzgou

Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder.

Clinical genetics
Avec: Maria B Christensen , Amanda M Levy , Nazanin A Mohammadi , Marcello Niceta , Rauan Kaiyrzhanov , Maria Lisa Dentici , Chadi Al Alam , Viola Alesi , Valérie Benoit , Kailash P Bhatia , Tatjana Bierhals , Christian M Boßelmann , Julien Buratti , Bert Callewaert , Berten Ceulemans , Perrine Charles , Matthias De Wachter , Mohammadreza Dehghani , Erika D'haenens , Martine Doco-Fenzy , Michaela Geßner , Cyrielle Gobert , Ulviyya Guliyeva , Tobias B Haack , Trine B Hammer , Tilman Heinrich , Maja Hempel , Theresia Herget , Ute Hoffmann , Judit Horvath , Henry Houlden , Boris Keren , Christina Kresge , Candy Kumps , Damien Lederer , Alban Lermine , Francesca Magrinelli , Reza Maroofian , Mohammad Yahya Vahidi Mehrjardi , Mahdiyeh Moudi , Amelie J Müller , Anna J Oostra , Beth A Pletcher , David Ros-Pardo , Shanika Samarasekera , Marco Tartaglia , Kristof Van Schil , Julie Vogt , Evangeline Wassmer , Juliane Winkelmann , Maha S Zaki , Michael Zech , Holger Lerche , Francesca Clementina Radio , Paulino Gomez-Puertas , Rikke S Møller , Zeynep Tümer

Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia.

Annals of neurology
Avec: Daniel G Calame , Isabella Herman , Reza Maroofian , Aren E Marshall , Karina Carvalho Donis , Jawid M Fatih , Tadahiro Mitani , Haowei Du , Christopher M Grochowski , Sergio B Sousa , Charul Gijavanekar , Somayeh Bakhtiari , Yoko A Ito , Clarissa Rocca , Jill V Hunter , V Reid Sutton , Lisa T Emrick , Kym M Boycott , Alexander Lossos , Yakov Fellig , Eugenia Prus , Yosef Kalish , Vardiella Meiner , Manon Suerink , Claudia Ruivenkamp , Kayla Muirhead , Nebal W Saadi , Maha S Zaki , Arjan Bouman , Tahsin Stefan Barakat , David L Skidmore , Matthew Osmond , Thiago Oliveira Silva , David Murphy , Ehsan Ghayoor Karimiani , Yalda Jamshidi , Asaad Ghanim Jaddoa , Homa Tajsharghi , Sheng Chih Jin , Mohammad Reza Abbaszadegan , Reza Ebrahimzadeh-Vesal , Susan Hosseini , Shahryar Alavi , Amir Bahreini , Elahe Zarean , Mohammad Mehdi Salehi , Nouriya Abbas Al-Sannaa , Giovanni Zifarelli , Peter Bauer , Simon C Robson , Zeynep Coban-Akdemir , Lorena Travaglini , Francesco Nicita , Shalini N Jhangiani , Richard A Gibbs , Jennifer E Posey , Michael C Kruer , Kristin D Kernohan , Jonas A Morales Saute , Henry Houlden , Adeline Vanderver , Sarah H Elsea , Davut Pehlivan , Dana Marafi , James R Lupski

Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data.

medRxiv : the preprint server for health sciences
Avec: Valentina Cipriani , Letizia Vestito , Emma F Magavern , Julius Ob Jacobsen , Gavin Arno , Elijah R Behr , Katherine A Benson , Marta Bertoli , Detlef Bockenhauer , Michael R Bowl , Kate Burley , Li F Chan , Patrick Chinnery , Peter Conlon , Marcos Costa , Alice E Davidson , Sally J Dawson , Elhussein Elhassan , Sarah E Flanagan , Marta Futema , Daniel P Gale , Sonia García-Ruiz , Cecilia Gonzalez Corcia , Helen R Griffin , Sophie Hambleton , Amy R Hicks , Henry Houlden , Richard S Houlston , Sarah A Howles , Robert Kleta , Iris Lekkerkerker , Siying Lin , Petra Liskova , Hannah Mitchison , Heba Morsy , Andrew D Mumford , William G Newman , Ruxandra Neatu , Edel A O'Toole , Albert Cm Ong , Alistair T Pagnamenta , Shamima Rahman , Neil Rajan , Peter N Robinson , Mina Ryten , Omid Sadeghi-Alavijeh , John A Sayer , Claire L Shovlin , Jenny C Taylor , Omri Teltsh , Ian Tomlinson , Arianna Tucci , Clare Turnbull , Albertien M van Eerde , James S Ware , Laura M Watts , Andrew R Webster , Sarah K Westbury , Sean L Zheng , Mark Caulfield , Damian Smedley

Adaptive Long-Read Sequencing Reveals GGC Repeat Expansion in ZFHX3 Associated with Spinocerebellar Ataxia Type 4.

Movement disorders : official journal of the Movement Disorder Society
Avec: Zhongbo Chen , Emil K Gustavsson , Hannah Macpherson , Claire Anderson , Chris Clarkson , Clarissa Rocca , Eleanor Self , Pilar Alvarez Jerez , Annarita Scardamaglia , David Pellerin , Kylie Montgomery , Jasmaine Lee , Delia Gagliardi , Huihui Luo , Auteur inconnu , John Hardy , James Polke , Andrew B Singleton , Cornelis Blauwendraat , Katherine D Mathews , Arianna Tucci , Ying-Hui Fu , Henry Houlden , Mina Ryten , Louis J Ptáček

Optical Genome Mapping Enables Detection and Accurate Sizing of

Biomolecules
Avec: Stefano Facchini , Natalia Dominik , Arianna Manini , Stephanie Efthymiou , Riccardo Currò , Bianca Rugginini , Elisa Vegezzi , Ilaria Quartesan , Benedetta Perrone , Shahedah Koya Kutty , Valentina Galassi Deforie , Ricardo P Schnekenberg , Elena Abati , Anna Pichiecchio , Enza Maria Valente , Cristina Tassorelli , Mary M Reilly , Henry Houlden , Enrico Bugiardini , Andrea Cortese

Mutations in alpha-B-crystallin cause autosomal dominant axonal Charcot-Marie-Tooth disease with congenital cataracts.

European journal of neurology
Avec: Andrea Cortese , Riccardo Currò , Riccardo Ronco , Julian Blake , Alex M Rossor , Enrico Bugiardini , Matilde Laurà , Tom Warner , Tarek Yousry , Roy Poh , James Polke , Adriana Rebelo , Maike F Dohrn , Mario Saporta , Henry Houlden , Stephan Zuchner , Mary M Reilly

Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease.

Brain : a journal of neurology
Avec: Ralf A Husain , Xinfu Jiao , J Christopher Hennings , Jan Giesecke , Geeta Palsule , Stefanie Beck-Wödl , Dina Osmanović , Kathrine Bjørgo , Asif Mir , Muhammad Ilyas , Saad M Abbasi , Stephanie Efthymiou , Natalia Dominik , Reza Maroofian , Henry Houlden , Julia Rankin , Alistair T Pagnamenta , Marwan Nashabat , Waleed Altwaijri , Majid Alfadhel , Muhammad Umair , Ebtissal Khouj , William Reardon , Ayman W El-Hattab , Mohammed Mekki , Gunnar Houge , Christian Beetz , Peter Bauer , Audrey Putoux , Gaetan Lesca , Damien Sanlaville , Fowzan S Alkuraya , Robert W Taylor , Hans-Joachim Mentzel , Christian A Hübner , Peter Huppke , Ronald P Hart , Tobias B Haack , Megerditch Kiledjian , Ignacio Rubio

NUP85 as a Neurodevelopmental Gene: From Podocyte to Neuron.

Genes
Avec: Antonella Gambadauro , Giuseppe Donato Mangano , Karol Galletta , Francesca Granata , Antonella Riva , Laura Massella , Isabella Guzzo , Giovanni Farello , Giovanna Scorrano , Ludovica Di Francesco , Giulio Di Donato , Carolina Ianni , Armando Di Ludovico , Saverio La Bella , Pasquale Striano , Stephanie Efthymiou , Henry Houlden , Rosaria Nardello , Roberto Chimenz

Expanding the phenotypic spectrum of

Brain communications
Avec: Paulo R Nóbrega , Anderson R B de Paiva , Katiane S Souza , Jorge Luiz B de Souza , Pedro Lucas G S B Lima , Delson José da Silva , Milena Sales Pitombeira , Viviennee K Borges , Daniel A Dias , Luciana M Bispo , Carolina F Santos , Fernando Freua , Paulo Diego S Silva , Isabela S Alves , Leonardo B Portella , Paulina R Cunha , Rubens Paulo A Salomao , José Luiz Pedroso , Veridiana P Miyajima , Fábio Miyajima , Elisa Cali , Charles Wade , Annapurna Sudarsanam , Mary O'Driscoll , Tom Hayton , Orlando G P Barsottini , Stephan Klebe , Fernando Kok , Leandro Tavares Lucato , Henry Houlden , Christel Depienne , David S Lynch , Pedro Braga-Neto

Phenotypic continuum of NFU1-related disorders.

Annals of clinical and translational neurology
Avec: Rauan Kaiyrzhanov , Maha S Zaki , Tracy Lau , Sambuddha Sen , Reza Azizimalamiri , Mina Zamani , Gözde Yeşil Sayin , Taru Hilander , Stephanie Efthymiou , Viorica Chelban , Ruth Brown , Kyle Thompson , Maria Irene Scarano , Jaya Ganesh , Kairgali Koneev , Ismail Musab Gülaçar , Richard Person , Dinara Sadykova , Yerdan Maidyrov , Tahereh Seifi , Aizhan Zadagali , Geneviève Bernard , Katrina Allis , Houda Zghal Elloumi , Amanda Lindy , Ehsan Taghiabadi , Sumit Verma , Rachel Logan , Brian Kirmse , Renkui Bai , Shaimaa M Khalaf , Mohamed S Abdel-Hamid , Alireza Sedaghat , Gholamreza Shariati , Mahmoud Issa , Jawaher Zeighami , Hasnaa M Elbendary , Garry Brown , Robert W Taylor , Hamid Galehdari , Joseph J Gleeson , Christopher J Carroll , James A Cowan , Andres Moreno-De-Luca , Henry Houlden , Reza Maroofian

Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly.

American journal of human genetics
Avec: Quentin Thomas , Marialetizia Motta , Thierry Gautier , Maha S Zaki , Andrea Ciolfi , Julien Paccaud , François Girodon , Odile Boespflug-Tanguy , Thomas Besnard , Jennifer Kerkhof , Haley McConkey , Aymeric Masson , Anne-Sophie Denommé-Pichon , Benjamin Cogné , Eva Trochu , Virginie Vignard , Fatima El It , Lance H Rodan , Mohammad Ayman Alkhateeb , Rami Abou Jamra , Laurence Duplomb , Emilie Tisserant , Yannis Duffourd , Ange-Line Bruel , Adam Jackson , Siddharth Banka , Meriel McEntagart , Anand Saggar , Joseph G Gleeson , David Sievert , Hyunwoo Bae , Beom Hee Lee , Kisang Kwon , Go Hun Seo , Hane Lee , Anjum Saeed , Nadeem Anjum , Huma Cheema , Salem Alawbathani , Imran Khan , Jorge Pinto-Basto , Joyce Teoh , Jasmine Wong , Umar Bin Mohamad Sahari , Henry Houlden , Kristina Zhelcheska , Melanie Pannetier , Mona A Awad , Marion Lesieur-Sebellin , Giulia Barcia , Jeanne Amiel , Julian Delanne , Christophe Philippe , Laurence Faivre , Sylvie Odent , Aida Bertoli-Avella , Christel Thauvin , Bekim Sadikovic , Bruno Reversade , Reza Maroofian , Jérôme Govin , Marco Tartaglia , Antonio Vitobello

Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Heba Morsy , Mehdi Benkirane , Elisa Cali , Clarissa Rocca , Kristina Zhelcheska , Valentina Cipriani , Evangelia Galanaki , Reza Maroofian , Stephanie Efthymiou , David Murphy , Mary O'Driscoll , Mohnish Suri , Siddharth Banka , Jill Clayton-Smith , Thomas Wright , Melody Redman , Jennifer A Bassetti , Mathilde Nizon , Benjamin Cogne , Rami Abu Jamra , Tobias Bartolomaeus , Marion Heruth , Ilona Krey , Janina Gburek-Augustat , Dagmar Wieczorek , Felix Gattermann , Meriel Mcentagart , Alice Goldenberg , Lucie Guyant-Marechal , Hector Garcia-Moreno , Paola Giunti , Brigitte Chabrol , Severine Bacrot , Roger Buissonnière , Virginie Magry , Vykuntaraju K Gowda , Varunvenkat M Srinivasan , Béla Melegh , András Szabó , Katalin Sümegi , Mireille Cossée , Monica Ziff , Russell Butterfield , David Hunt , Georgina Bird-Lieberman , Michael Hanna , Michel Koenig , Michael Stankewich , Jana Vandrovcova , Henry Houlden , Auteur inconnu

Detection and Characterization of a De Novo Alu Retrotransposition Event Causing NKX2-1-Related Disorder.

Movement disorders : official journal of the Movement Disorder Society
Avec: Francesca Magrinelli , Clarissa Rocca , Roberto Simone , Riccardo Zenezini Chiozzi , Zane Jaunmuktane , Niccolò E Mencacci , Michele Tinazzi , Sandeep Jayawant , Andrea H Nemeth , German Demidov , Henry Houlden , Kailash P Bhatia

Childhood-Onset Choreo-Dystonia Due to a Recurrent Novel Homozygous Nonsense

Movement disorders clinical practice
Avec: Francesca Magrinelli , Kailash P Bhatia , Mehran Beiraghi Toosi , Fatemeh Arab , Ehsan Ghayoor Karimiani , Sahar Sedighzadeh , Behnaz Ansari , Maedeh Neshatdoust , Clarissa Rocca , Henry Houlden , Reza Maroofian

The genetic basis of endometriosis and comorbidity with other pain and inflammatory conditions.

Nature genetics
Avec: Nilufer Rahmioglu , Sally Mortlock , Marzieh Ghiasi , Peter L Møller , Lilja Stefansdottir , Geneviève Galarneau , Constance Turman , Rebecca Danning , Matthew H Law , Yadav Sapkota , Paraskevi Christofidou , Sini Skarp , Ayush Giri , Karina Banasik , Michal Krassowski , Maarja Lepamets , Błażej Marciniak , Margit Nõukas , Danielle Perro , Eeva Sliz , Marta Sobalska-Kwapis , Gudmar Thorleifsson , Nura F Topbas-Selcuki , Allison Vitonis , David Westergaard , Ragnheidur Arnadottir , Kristoffer S Burgdorf , Archie Campbell , Cecilia S K Cheuk , Caterina Clementi , James Cook , Immaculata De Vivo , Amy DiVasta , O Dorien , Jacqueline F Donoghue , Todd Edwards , Pierre Fontanillas , Jenny N Fung , Reynir T Geirsson , Jane E Girling , Paivi Harkki , Holly R Harris , Martin Healey , Oskari Heikinheimo , Sarah Holdsworth-Carson , Isabel C Hostettler , Henry Houlden , Sahar Houshdaran , Juan C Irwin , Marjo-Riitta Jarvelin , Yoichiro Kamatani , Stephen H Kennedy , Ewa Kepka , Johannes Kettunen , Michiaki Kubo , Bartosz Kulig , Venla Kurra , Hannele Laivuori , Marc R Laufer , Cecilia M Lindgren , Stuart MacGregor , Massimo Mangino , Nicholas G Martin , Charoula Matalliotaki , Michail Matalliotakis , Alison D Murray , Anne Ndungu , Camran Nezhat , Catherine M Olsen , Jessica Opoku-Anane , Sandosh Padmanabhan , Manish Paranjpe , Maire Peters , Grzegorz Polak , David J Porteous , Joseph Rabban , Kathyrn M Rexrode , Hanna Romanowicz , Merli Saare , Liisu Saavalainen , Andrew J Schork , Sushmita Sen , Amy L Shafrir , Anna Siewierska-Górska , Marcin Słomka , Blair H Smith , Beata Smolarz , Tomasz Szaflik , Krzysztof Szyłło , Atsushi Takahashi , Kathryn L Terry , Carla Tomassetti , Susan A Treloar , Arne Vanhie , Katy Vincent , Kim C Vo , David J Werring , Eleftheria Zeggini , Maria I Zervou , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Sosuke Adachi , Julie E Buring , Paul M Ridker , Thomas D'Hooghe , George N Goulielmos , Dharani K Hapangama , Caroline Hayward , Andrew W Horne , Siew-Kee Low , Hannu Martikainen , Daniel I Chasman , Peter A W Rogers , Philippa T Saunders , Marina Sirota , Tim Spector , Dominik Strapagiel , Joyce Y Tung , David C Whiteman , Linda C Giudice , Digna R Velez-Edwards , Outi Uimari , Peter Kraft , Andres Salumets , Dale R Nyholt , Reedik Mägi , Kari Stefansson , Christian M Becker , Piraye Yurttas-Beim , Valgerdur Steinthorsdottir , Mette Nyegaard , Stacey A Missmer , Grant W Montgomery , Andrew P Morris , Krina T Zondervan

The contribution of Neanderthal introgression and natural selection to neurodegenerative diseases.

Neurobiology of disease
Avec: Zhongbo Chen , Regina H Reynolds , Antonio F Pardiñas , Sarah A Gagliano Taliun , Wouter van Rheenen , Kuang Lin , Aleksey Shatunov , Emil K Gustavsson , Isabella Fogh , Ashley R Jones , Wim Robberecht , Philippe Corcia , Adriano Chiò , Pamela J Shaw , Karen E Morrison , Jan H Veldink , Leonard H van den Berg , Christopher E Shaw , John F Powell , Vincenzo Silani , John A Hardy , Henry Houlden , Michael J Owen , Martin R Turner , Mina Ryten , Ammar Al-Chalabi

A common flanking variant is associated with enhanced meiotic stability of the

bioRxiv : the preprint server for biology
Avec: David Pellerin , Giulia Del Gobbo , Madeline Couse , Egor Dolzhenko , Marie-Josée Dicaire , Adriana Rebelo , Virginie Roth , Marion Wandzel , Céline Bonnet , Catherine Ashton , Phillipa J Lamont , Nigel G Laing , Mathilde Renaud , Gianina Ravenscroft , Henry Houlden , Matthis Synofzik , Michael A Eberle , Kym M Boycott , Tomi Pastinen , Auteur inconnu , Bernard Brais , Stephan Zuchner , Matt C Danzi

Exome sequencing identifies a novel pathogenic variant in RAB3GAP1 causing Warburg Micro syndrome in a Pakistani family.

International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience
Avec: Wahid Ullah , Muhammad Ilyas , Muhammad Tariq , Maria Imdad , Ikram Ullah , Stephanie Efthymiou , Muhammad Faheem , Muhammad Abbas , Auteur inconnu , Muhammad Aamir , Muhammad Nouman , Henry Houlden

Frequency and phenotypic spectrum of spinocerebellar ataxia 27B and other genetic ataxias in a Spanish cohort of late-onset cerebellar ataxia.

European journal of neurology
Avec: Pablo Iruzubieta , David Pellerin , Alberto Bergareche , Inés Albajar , Elisabet Mondragón , Ana Vinagre , Roberto Fernández-Torrón , Fermín Moreno , Jon Equiza , David Campo-Caballero , Juan José Poza , Marta Ruibal , Alessandro Formica , Marie-Josée Dicaire , Matt C Danzi , Stephan Zuchner , Ioana Croitoru , Montserrat Ruiz , Agatha Schlüter , Carlos Casasnovas , Aurora Pujol , Bernard Brais , Henry Houlden , Adolfo López de Munain , Javier Ruiz-Martínez

Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.

Brain : a journal of neurology
Avec: Reza Maroofian , Rauan Kaiyrzhanov , Elisa Cali , Mina Zamani , Maha S Zaki , Matteo Ferla , Domenico Tortora , Saeid Sadeghian , Saadia Maryam Saadi , Uzma Abdullah , Ehsan Ghayoor Karimiani , Stephanie Efthymiou , Gözde Yeşil , Shahryar Alavi , Aisha M Al Shamsi , Homa Tajsharghi , Mohamed S Abdel-Hamid , Nebal Waill Saadi , Fuad Al Mutairi , Lama Alabdi , Christian Beetz , Zafar Ali , Mehran Beiraghi Toosi , Sabine Rudnik-Schöneborn , Meisam Babaei , Pirjo Isohanni , Jameel Muhammad , Sheraz Khan , Maha Al Shalan , Scott E Hickey , Daphna Marom , Emil Elhanan , Manju A Kurian , Dana Marafi , Alihossein Saberi , Mohammad Hamid , Robert Spaull , Linyan Meng , Seema Lalani , Shazia Maqbool , Fatima Rahman , Jürgen Seeger , Timothy Blake Palculict , Tracy Lau , David Murphy , Niccolo Emanuele Mencacci , Katharina Steindl , Anais Begemann , Anita Rauch , Sinan Akbas , Ayça Dilruba Aslanger , Vincenzo Salpietro , Hammad Yousaf , Shay Ben-Shachar , Katarina Ejeskär , Aida I Al Aqeel , Frances A High , Amy E Armstrong-Javors , Seyed Mohammadsaleh Zahraei , Tahereh Seifi , Jawaher Zeighami , Gholamreza Shariati , Alireza Sedaghat , Samaneh Noroozi Asl , Mohmmad Shahrooei , Giovanni Zifarelli , Lydie Burglen , Claudia Ravelli , Johannes Zschocke , Ulrich A Schatz , Maryam Ghavideldarestani , Walaa A Kamel , Hilde Van Esch , Annette Hackenberg , Jenny C Taylor , Lihadh Al-Gazali , Peter Bauer , Joseph J Gleeson , Fowzan Sami Alkuraya , James R Lupski , Hamid Galehdari , Reza Azizimalamiri , Wendy K Chung , Shahid Mahmood Baig , Henry Houlden , Mariasavina Severino

Frequency of GAA-

Neurology. Genetics
Avec: Luiz Eduardo Novis , Rodrigo S Frezatti , David Pellerin , Pedro J Tomaselli , Shahryar Alavi , Marcus Vinícius Della Coleta , Mariana Spitz , Marie-Josée Dicaire , Pablo Iruzubieta , José Luiz Pedroso , Orlando Barsottini , Andrea Cortese , Matt C Danzi , Marcondes C França , Bernard Brais , Stephan Zuchner , Henry Houlden , Salmo Raskin , Wilson Marques , Helio A Teive

MAPT allele and haplotype frequencies in Nigerian Africans: Population distribution and association with Parkinson's disease risk and age at onset.

Parkinsonism & related disorders
Avec: Olaitan Okunoye , Oluwadamilola O Ojo , Oladunni Abiodun , Sani Abubakar , Charles Achoru , Olaleye Adeniji , Osigwe Agabi , Uchechi Agulanna , Rufus Akinyemi , Mohammed Ali , Ifeyinwa Ani-Osheku , Ohwotemu Arigbodi , Abiodun Bello , Cyril Erameh , Temitope Farombi , Michael Fawale , Frank Imarhiagbe , Emmanuel Iwuozo , Morenikeji Komolafe , Paul Nwani , Ernest Nwazor , Yakub Nyandaiti , Yahaya Obiabo , Olanike Odeniyi , Francis Odiase , Francis Ojini , Gerald Onwuegbuzie , Godwin Osaigbovo , Nosakhare Osemwegie , Olajumoke Oshinaike , Folajimi Otubogun , Shyngle Oyakhire , Simon Ozomma , Sarah Samuel , Funmilola Taiwo , Kolawole Wahab , Yusuf Zubair , Dena Hernandez , Sara Bandres-Ciga , Cornelis Blauwendraat , Andrew Singleton , Henry Houlden , John Hardy , Mie Rizig , Njideka Okubadejo

Analysis of

F1000Research
Avec: Mariam Kekenadze , Clarissa Rocca , Valentina Turchetti , Sara Nagy , Nana Kvirkvelia , Shorena Vashadze , Eka Kvaratskhelia , Maia Beridze , Rauan Kaiyrzhanov , Henry Houlden

Reticulon 2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity.

Brain : a journal of neurology
Avec: Reza Maroofian , Payam Sarraf , Thomas J O'Brien , Mona Kamel , Arman Cakar , Nour Elkhateeb , Tracy Lau , Siddaramappa Jagdish Patil , Christopher J Record , Alejandro Horga , Miriam Essid , Laila Selim , Hanene Benrhouma , Thouraya Ben Younes , Giovanni Zifarelli , Alistair T Pagnamenta , Peter Bauer , Mukhran Khundadze , Andrea Mirecki , Sara Mahmoud Kamel , Mohamed A Elmonem , Ehsan Ghayoor Karimiani , Yalda Jamshidi , Amaka C Offiah , Alexander M Rossor , Ilhem Ben Youssef-Turki , Christian A Hübner , Pinki Munot , Mary M Reilly , André E X Brown , Sara Nagy , Henry Houlden

An exploration of the genetics of the mutant Huntingtin (mHtt) gene in a cohort of patients with chorea from different ethnic groups in sub-Saharan Africa.

Annals of human genetics
Avec: Mendi J Muthinja , Carlos Othon Guelngar , Maouly Fall , Fatumah Jama , Huda Aldeen Shuja , Jamila Nambafu , Daniel Gams Massi , Oluwadamilola O Ojo , Njideka U Okubadejo , Funmilola Tolulope Taiwo , Alassane Mamadou Diop , Coudjou J D G de Chacus , Fodé Abass Cissé , Amara Cissé , Juzar Hooker , Dilraj Sokhi , Henry Houlden , Mie Rizig

GBA1 rs3115534 Is Associated with REM Sleep Behavior Disorder in Parkinson's Disease in Nigerians.

Movement disorders : official journal of the Movement Disorder Society
Avec: Oluwadamilola Omolara Ojo , Sara Bandres-Ciga , Mary B Makarious , Peter Wild Crea , Dena G Hernandez , Henry Houlden , Mie Rizig , Andrew B Singleton , Alastair J Noyce , Mike A Nalls , Cornelis Blauwendraat , Njideka Ulunma Okubadejo , Auteur inconnu

Profiling complex repeat expansions in RFC1 in Parkinson's disease.

NPJ Parkinson's disease
Avec: Pilar Alvarez Jerez , Kensuke Daida , Abigail Miano-Burkhardt , Hirotaka Iwaki , Laksh Malik , Guillaume Cogan , Mary B Makarious , Roisin Sullivan , Jana Vandrovcova , Jinhui Ding , J Raphael Gibbs , Androo Markham , Mike A Nalls , Rupesh K Kesharwani , Fritz J Sedlazeck , Bradford Casey , John Hardy , Henry Houlden , Cornelis Blauwendraat , Andrew B Singleton , Kimberley J Billingsley

Loss of symmetric cell division of apical neural progenitors drives

medRxiv : the preprint server for health sciences
Avec: Emily Banks , Vincent Francis , Sheng-Jia Lin , Fares Kharfallah , Vladimir Fonov , Maxime Levesque , Chanshuai Han , Gopinath Kulasekaran , Marius Tuznik , Armin Bayati , Reem Al-Khater , Fowzan S Alkuraya , Loukas Argyriou , Meisam Babaei , Melanie Bahlo , Behnoosh Bakhshoodeh , Eileen Barr , Lauren Bartik , Mahmoud Bassiony , Miriam Bertrand , Dominique Braun , Rebecca Buchert , Mauro Budetta , Maxime Cadieux-Dion , Daniel Calame , Heidi Cope , Donna Cushing , Stephanie Efthymiou , Marwa A Elmaksoud , Huda G El Said , Tawfiq Froukh , Harinder K Gill , Joseph G Gleeson , Laura Gogoll , Elaine S-Y Goh , Vykuntaraju K Gowda , Tobias B Haack , Mais O Hashem , Stefan Hauser , Trevor L Hoffman , Jacob S Hogue , Akimoto Hosokawa , Henry Houlden , Kevin Huang , Stephanie Huynh , Ehsan G Karimiani , Silke Kaulfuß , G Christoph Korenke , Amy Kritzer , Hane Lee , James R Lupski , Elysa J Marco , Kirsty McWalter , Arakel Minassian , Berge A Minassian , David Murphy , Juanita Neira-Fresneda , Hope Northrup , Denis Nyaga , Barbara Oehl-Jaschkowitz , Matthew Osmond , Richard Person , Davut Pehlivan , Cassidy Petree , Lynette G Sadleir , Carol Saunders , Ludger Schoels , Vandana Shashi , Rebecca C Spillman , Varunvenkat M Srinivasan , Paria N Torbati , Tulay Tos , Auteur inconnu , Maha S Zaki , Dihong Zhou , Christiane Zweier , Jean-François Trempe , Thomas M Durcan , Ziv Gan-Or , Massimo Avoli , Cesar Alves , Guarav K Varshney , Reza Maroofian , David A Rudko , Peter S McPherson

Pathologic

Brain communications
Avec: Sara Nagy , Aisling Carr , Magdalena Mroczek , Simon Rinaldi , Riccardo Curro , Natalia Dominik , Nicole Japzon , Francesca Magrinelli , Michael P Lunn , Hadi Manji , Mary M Reilly , Andrea Cortese , Henry Houlden

Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy.

Nature communications
Avec: Emily Banks , Vincent Francis , Sheng-Jia Lin , Fares Kharfallah , Vladimir Fonov , Maxime Lévesque , Chanshuai Han , Gopinath Kulasekaran , Marius Tuznik , Armin Bayati , Reem Al-Khater , Fowzan S Alkuraya , Loukas Argyriou , Meisam Babaei , Melanie Bahlo , Behnoosh Bakhshoodeh , Eileen Barr , Lauren Bartik , Mahmoud Bassiony , Miriam Bertrand , Dominique Braun , Rebecca Buchert , Mauro Budetta , Maxime Cadieux-Dion , Daniel G Calame , Heidi Cope , Donna Cushing , Stephanie Efthymiou , Marwa Abd Elmaksoud , Huda G El Said , Tawfiq Froukh , Harinder K Gill , Joseph G Gleeson , Laura Gogoll , Elaine S-Y Goh , Vykuntaraju K Gowda , Tobias B Haack , Mais O Hashem , Stefan Hauser , Trevor L Hoffman , Jacob S Hogue , Akimoto Hosokawa , Henry Houlden , Kevin Huang , Stephanie Huynh , Ehsan G Karimiani , Silke Kaulfuß , G Christoph Korenke , Amy Kritzer , Hane Lee , James R Lupski , Elysa J Marco , Kirsty McWalter , Arakel Minassian , Berge A Minassian , David Murphy , Juanita Neira-Fresneda , Hope Northrup , Denis M Nyaga , Barbara Oehl-Jaschkowitz , Matthew Osmond , Richard Person , Davut Pehlivan , Cassidy Petree , Lynette G Sadleir , Carol Saunders , Ludger Schoels , Vandana Shashi , Rebecca C Spillmann , Varunvenkat M Srinivasan , Paria N Torbati , Tulay Tos , Auteur inconnu , Maha S Zaki , Dihong Zhou , Christiane Zweier , Jean-François Trempe , Thomas M Durcan , Ziv Gan-Or , Massimo Avoli , Cesar Alves , Gaurav K Varshney , Reza Maroofian , David A Rudko , Peter S McPherson

NeuroBooster Array: A Genome-Wide Genotyping Platform to Study Neurological Disorders Across Diverse Populations.

Movement disorders : official journal of the Movement Disorder Society
Avec: Sara Bandres-Ciga , Faraz Faghri , Elisa Majounie , Mathew J Koretsky , Jeffrey Kim , Kristin S Levine , Hampton Leonard , Mary B Makarious , Hirotaka Iwaki , Peter Wild Crea , Dena G Hernandez , Sampath Arepalli , Kimberley Billingsley , Katja Lohmann , Christine Klein , Steven J Lubbe , Edwin Jabbari , Paula Saffie-Awad , Derek Narendra , Armando Reyes-Palomares , John P Quinn , Claudia Schulte , Huw R Morris , Bryan J Traynor , Sonja W Scholz , Henry Houlden , John Hardy , Sonya Dumanis , Ekemini Riley , Cornelis Blauwendraat , Andrew Singleton , Mike Nalls , Janina Jeff , Dan Vitale , Auteur inconnu

A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in AFF3 associated with intellectual disability.

Nature genetics
Avec: Bharati Jadhav , Paras Garg , Joke J F A van Vugt , Kristina Ibanez , Delia Gagliardi , William Lee , Mariya Shadrina , Tom Mokveld , Egor Dolzhenko , Alejandro Martin-Trujillo , Scott J Gies , Gabrielle Altman , Clarissa Rocca , Mafalda Barbosa , Miten Jain , Nayana Lahiri , Katherine Lachlan , Henry Houlden , Benedict Paten , Auteur inconnu , Auteur inconnu , Jan Veldink , Arianna Tucci , Andrew J Sharp

Further description of the phenotypic spectrum of neuronal ceroid lipofuscinosis type 11.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Paulo Ribeiro Nóbrega , Anderson Rodrigues Brandão Paiva , Antonio Duarte Amorim Junior , Pedro Lucas Grangeiro Sá Barreto Lima , Katiane Sayão Souza Cabral , Isabella Peixoto Barcelos , André Luis Santos Pessoa , Carlos Frederico Leite Souza-Lima , Matheus Augusto Araújo Castro , Fernando Freua , Emerson de Santana Santos , Margleice Marinho Vieira Rocha , Rayana Elias Maia , Rodrigo Santos Araújo , Juan David Guevara Ramos , Rosane Guazi Resende , Gerson da Silva Carvalho , Luciana Patrizia Andrade Valença , José Ronaldo Lima Carvalho Júnior , Eduardo Sousa Melo , José Luiz Pedroso , Orlando Graziani Povoas Barsottini , Henry Houlden , Fernando Kok , David S Lynch

Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes.

Nature genetics
Avec: Andrea Cortese , Yi Zhu , Adriana P Rebelo , Sara Negri , Steve Courel , Lisa Abreu , Chelsea J Bacon , Yunhong Bai , Dana M Bis-Brewer , Enrico Bugiardini , Elena Buglo , Matt C Danzi , Shawna M E Feely , Alkyoni Athanasiou-Fragkouli , Nourelhoda A Haridy , Auteur inconnu , Rosario Isasi , Alaa Khan , Matilde Laurà , Stefania Magri , Menelaos Pipis , Chiara Pisciotta , Eric Powell , Alexander M Rossor , Paola Saveri , Janet E Sowden , Stefano Tozza , Jana Vandrovcova , Julia Dallman , Elena Grignani , Enrico Marchioni , Steven S Scherer , Beisha Tang , Zhiqiang Lin , Abdullah Al-Ajmi , Rebecca Schüle , Matthis Synofzik , Thierry Maisonobe , Tanya Stojkovic , Michaela Auer-Grumbach , Mohamed A Abdelhamed , Sherifa A Hamed , Ruxu Zhang , Fiore Manganelli , Lucio Santoro , Franco Taroni , Davide Pareyson , Henry Houlden , David N Herrmann , Mary M Reilly , Michael E Shy , R Grace Zhai , Stephan Zuchner

Prevalence of familial cluster headache: a systematic review and meta-analysis.

The journal of headache and pain
Avec: Emer O'Connor , Benjamin S Simpson , Henry Houlden , Jana Vandrovcova , Manjit Matharu

Genetic and Clinical Heterogeneity in Thirteen New Cases with Aceruloplasminemia. Atypical Anemia as a Clue for an Early Diagnosis.

International journal of molecular sciences
Avec: Marc Vila Cuenca , Giacomo Marchi , Anna Barqué , Clara Esteban-Jurado , Alessandro Marchetto , Alejandro Giorgetti , Viorica Chelban , Henry Houlden , Nicholas W Wood , Chiara Piubelli , Marina Dorigatti Borges , Dulcinéia Martins de Albuquerque , Kleber Yotsumoto Fertrin , Ester Jové-Buxeda , Jordi Sanchez-Delgado , Neus Baena-Díez , Birute Burnyte , Algirdas Utkus , Fabiana Busti , Gintaras Kaubrys , Eda Suku , Kamil Kowalczyk , Bartosz Karaszewski , John B Porter , Sally Pollard , Perla Eleftheriou , Patricia Bignell , Domenico Girelli , Mayka Sanchez

Novel likely disease-causing CLN5 variants identified in Pakistani patients with neuronal ceroid lipofuscinosis.

Journal of the neurological sciences
Avec: Beenish Azad , Stephanie Efthymiou , Tipu Sultan , Marcello Scala , Javeria Raza Alvi , Caroline Neuray , Natalia Dominik , Auteur inconnu , Asma Gul , Henry Houlden

Hereditary polyneuropathy with optic atrophy due to PDXK variant leading to impaired Vitamin B6 metabolism.

Neuromuscular disorders : NMD
Avec: Natalie Keller , Natalia Mendoza-Ferreira , Reza Maroofian , Viorica Chelban , Youssef Khalil , Philippa B Mills , Reza Boostani , Paria Najarzadeh Torbati , Ehsan Ghayoor Karimiani , Holger Thiele , Henry Houlden , Brunhilde Wirth , Mert Karakaya

Longer term stroke risk in intracerebral haemorrhage survivors.

Journal of neurology, neurosurgery, and psychiatry
Avec: Gargi Banerjee , Duncan Wilson , Gareth Ambler , Isabel Charlotte Hostettler , Clare Shakeshaft , Hannah Cohen , Tarek Yousry , Rustam Al-Shahi Salman , Gregory Y H Lip , Henry Houlden , Keith W Muir , Martin M Brown , Hans Rolf Jäger , David J Werring , Auteur inconnu

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.

American journal of human genetics
Avec: Andreea Manole , Stephanie Efthymiou , Emer O'Connor , Marisa I Mendes , Matthew Jennings , Reza Maroofian , Indran Davagnanam , Kshitij Mankad , Maria Rodriguez Lopez , Vincenzo Salpietro , Ricardo Harripaul , Lauren Badalato , Jagdeep Walia , Christopher S Francklyn , Alkyoni Athanasiou-Fragkouli , Roisin Sullivan , Sonal Desai , Kristin Baranano , Faisal Zafar , Nuzhat Rana , Muhammed Ilyas , Alejandro Horga , Majdi Kara , Francesca Mattioli , Alice Goldenberg , Helen Griffin , Amelie Piton , Lindsay B Henderson , Benyekhlef Kara , Ayca Dilruba Aslanger , Joost Raaphorst , Rolph Pfundt , Ruben Portier , Marwan Shinawi , Amelia Kirby , Katherine M Christensen , Lu Wang , Rasim O Rosti , Sohail A Paracha , Muhammad T Sarwar , Dagan Jenkins , Auteur inconnu , Jawad Ahmed , Federico A Santoni , Emmanuelle Ranza , Justyna Iwaszkiewicz , Cheryl Cytrynbaum , Rosanna Weksberg , Ingrid M Wentzensen , Maria J Guillen Sacoto , Yue Si , Aida Telegrafi , Marisa V Andrews , Dustin Baldridge , Heinz Gabriel , Julia Mohr , Barbara Oehl-Jaschkowitz , Sylvain Debard , Bruno Senger , Frédéric Fischer , Conny van Ravenwaaij , Annemarie J M Fock , Servi J C Stevens , Jürg Bähler , Amina Nasar , John F Mantovani , Adnan Manzur , Anna Sarkozy , Desirée E C Smith , Gajja S Salomons , Zubair M Ahmed , Shaikh Riazuddin , Saima Riazuddin , Muhammad A Usmani , Annette Seibt , Muhammad Ansar , Stylianos E Antonarakis , John B Vincent , Muhammad Ayub , Mona Grimmel , Anne Marie Jelsig , Tina Duelund Hjortshøj , Helena Gásdal Karstensen , Marybeth Hummel , Tobias B Haack , Yalda Jamshidi , Felix Distelmaier , Rita Horvath , Joseph G Gleeson , Hubert Becker , Jean-Louis Mandel , David A Koolen , Henry Houlden

The need for biochemical testing in beta-enolase deficiency in the genomic era.

JIMD reports
Avec: Ralph Wigley , Renata S Scalco , Alice R Gardiner , Richard Godfrey , Suzanne Booth , Richard Kirk , David Hilton-Jones , Henry Houlden , Simon Heales , Ros Quinlivan

Charcot-Marie-Tooth type 4B2 demyelinating neuropathy in miniature Schnauzer dogs caused by a novel splicing

PeerJ
Avec: Nicolas Granger , Alejandro Luján Feliu-Pascual , Charlotte Spicer , Sally Ricketts , Rebekkah Hitti , Oliver Forman , Joshua Hersheson , Henry Houlden

Diagnosis Across the Spectrum of Progressive Supranuclear Palsy and Corticobasal Syndrome.

JAMA neurology
Avec: Edwin Jabbari , Negin Holland , Viorica Chelban , P Simon Jones , Ruth Lamb , Charlotte Rawlinson , Tong Guo , Alyssa A Costantini , Manuela M X Tan , Amanda J Heslegrave , Federico Roncaroli , Johannes C Klein , Olaf Ansorge , Kieren S J Allinson , Zane Jaunmuktane , Janice L Holton , Tamas Revesz , Thomas T Warner , Andrew J Lees , Henrik Zetterberg , Lucy L Russell , Martina Bocchetta , Jonathan D Rohrer , Nigel M Williams , Donald G Grosset , David J Burn , Nicola Pavese , Alexander Gerhard , Christopher Kobylecki , P Nigel Leigh , Alistair Church , Michele T M Hu , John Woodside , Henry Houlden , James B Rowe , Huw R Morris

CANVAS: a late onset ataxia due to biallelic intronic AAGGG expansions.

Journal of neurology
Avec: Natalia Dominik , Valentina Galassi Deforie , Andrea Cortese , Henry Houlden

Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome.

American journal of medical genetics. Part A
Avec: Sandra Donkervoort , Payam Mohassel , Lucia Laugwitz , Maha S Zaki , Erik-Jan Kamsteeg , Reza Maroofian , Katherine R Chao , Corien C Verschuuren-Bemelmans , Veronka Horber , Annemarie J M Fock , Riley M McCarty , Minal S Jain , Victoria Biancavilla , Grace McMacken , Matthew Nalls , Nicol C Voermans , Hasnaa M Elbendary , Molly Snyder , Chunyu Cai , Tanya J Lehky , Valentina Stanley , Susan T Iannaccone , A Reghan Foley , Hanns Lochmüller , Joseph Gleeson , Henry Houlden , Tobias B Haack , Rita Horvath , Carsten G Bönnemann

The genetics of intellectual disability: advancing technology and gene editing.

F1000Research
Avec: Muhammad Ilyas , Asif Mir , Stephanie Efthymiou , Henry Houlden

Expanding the molecular and phenotypic spectrum of truncating

Neurology. Genetics
Avec: Enrico Bugiardini , Emanuela Bottani , Silvia Marchet , Olivia V Poole , Cristiane Beninca , Alejandro Horga , Cathy Woodward , Amanda Lam , Iain Hargreaves , Annapurna Chalasani , Alessandra Valerio , Eleonora Lamantea , Kerrie Venner , Janice L Holton , Massimo Zeviani , Henry Houlden , Rosaline Quinlivan , Costanza Lamperti , Michael G Hanna , Robert D S Pitceathly

A novel frameshift deletion in autosomal recessive SBF1-related syndromic neuropathy with necklace fibres.

Journal of neurology
Avec: Qiang Gang , Conceição Bettencourt , Janice Holton , Christopher Lovejoy , Viorica Chelban , Emer Oconnor , Yun Yuan , Mary M Reilly , Michael Hanna , Henry Houlden

Automated Brainstem Segmentation Detects Differential Involvement in Atypical Parkinsonian Syndromes.

Journal of movement disorders
Avec: Martina Bocchetta , Juan Eugenio Iglesias , Viorica Chelban , Edwin Jabbari , Ruth Lamb , Lucy L Russell , Caroline V Greaves , Mollie Neason , David M Cash , David L Thomas , Jason D Warren , John Woodside , Henry Houlden , Huw R Morris , Jonathan D Rohrer

Cerebral mitochondrial electron transport chain dysfunction in multiple system atrophy and Parkinson's disease.

Scientific reports
Avec: Sandrine C Foti , Iain Hargreaves , Stephanie Carrington , Aoife P Kiely , Henry Houlden , Janice L Holton

Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.

American journal of human genetics
Avec: Scott Bell , Justine Rousseau , Huashan Peng , Zahia Aouabed , Pierre Priam , Jean-Francois Theroux , Malvin Jefri , Arnaud Tanti , Hanrong Wu , Ilaria Kolobova , Heika Silviera , Karla Manzano-Vargas , Sophie Ehresmann , Fadi F Hamdan , Nuwan Hettige , Xin Zhang , Lilit Antonyan , Christina Nassif , Lina Ghaloul-Gonzalez , Jessica Sebastian , Jerry Vockley , Amber G Begtrup , Ingrid M Wentzensen , Amy Crunk , Robert D Nicholls , Kristin C Herman , Joshua L Deignan , Walla Al-Hertani , Stephanie Efthymiou , Vincenzo Salpietro , Noriko Miyake , Yoshio Makita , Naomichi Matsumoto , Rune Østern , Gunnar Houge , Maria Hafström , Emily Fassi , Henry Houlden , Jolien S Klein Wassink-Ruiter , Dominic Nelson , Amy Goldstein , Tabib Dabir , Julien van Gils , Thomas Bourgeron , Richard Delorme , Gregory M Cooper , Jose E Martinez , Candice R Finnila , Lionel Carmant , Anne Lortie , Renske Oegema , Koen van Gassen , Sarju G Mehta , Dagmar Huhle , Rami Abou Jamra , Sonja Martin , Han G Brunner , Dick Lindhout , Margaret Au , John M Graham , Christine Coubes , Gustavo Turecki , Simon Gravel , Naguib Mechawar , Elsa Rossignol , Jacques L Michaud , Julie Lessard , Carl Ernst , Philippe M Campeau

Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay.

American journal of human genetics
Avec: Sangmoon Lee , Dillon Y Chen , Maha S Zaki , Reza Maroofian , Henry Houlden , Nataliya Di Donato , Dalia Abdin , Heba Morsy , Ghayda M Mirzaa , William B Dobyns , Jennifer McEvoy-Venneri , Valentina Stanley , Kiely N James , Grazia M S Mancini , Rachel Schot , Tugba Kalayci , Umut Altunoglu , Ehsan Ghayoor Karimiani , Lauren Brick , Mariya Kozenko , Yalda Jamshidi , M Chiara Manzini , Mehran Beiraghi Toosi , Joseph G Gleeson

An update on advances in magnetic resonance imaging of multiple system atrophy.

Journal of neurology
Avec: Viorica Chelban , Martina Bocchetta , Sara Hassanein , Nourelhoda A Haridy , Henry Houlden , Jonathan D Rohrer

Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases.

Acta neuropathologica
Avec: Elena Perenthaler , Anita Nikoncuk , Soheil Yousefi , Woutje M Berdowski , Maysoon Alsagob , Ivan Capo , Herma C van der Linde , Paul van den Berg , Edwin H Jacobs , Darija Putar , Mehrnaz Ghazvini , Eleonora Aronica , Wilfred F J van IJcken , Walter G de Valk , Evita Medici-van den Herik , Marjon van Slegtenhorst , Lauren Brick , Mariya Kozenko , Jennefer N Kohler , Jonathan A Bernstein , Kristin G Monaghan , Amber Begtrup , Rebecca Torene , Amna Al Futaisi , Fathiya Al Murshedi , Renjith Mani , Faisal Al Azri , Erik-Jan Kamsteeg , Majid Mojarrad , Atieh Eslahi , Zaynab Khazaei , Fateme Massinaei Darmiyan , Mohammad Doosti , Ehsan Ghayoor Karimiani , Jana Vandrovcova , Faisal Zafar , Nuzhat Rana , Krishna K Kandaswamy , Jozef Hertecant , Peter Bauer , Mohammed A AlMuhaizea , Mustafa A Salih , Mazhor Aldosary , Rawan Almass , Laila Al-Quait , Wafa Qubbaj , Serdar Coskun , Khaled O Alahmadi , Muddathir H A Hamad , Salem Alwadaee , Khalid Awartani , Anas M Dababo , Futwan Almohanna , Dilek Colak , Mohammadreza Dehghani , Mohammad Yahya Vahidi Mehrjardi , Murat Gunel , A Gulhan Ercan-Sencicek , Gouri Rao Passi , Huma Arshad Cheema , Stephanie Efthymiou , Henry Houlden , Aida M Bertoli-Avella , Alice S Brooks , Kyle Retterer , Reza Maroofian , Namik Kaya , Tjakko J van Ham , Tahsin Stefan Barakat

Réseau de co-auteurs

None None 38 collaborations
Reza Maroofian 28 collaborations
Stephanie Efthymiou 25 collaborations
Maha S Zaki 14 collaborations
Vincenzo Salpietro 13 collaborations
Mary M Reilly 13 collaborations
Andrea Cortese 12 collaborations
Viorica Chelban 9 collaborations
Joseph G Gleeson 9 collaborations
Natalia Dominik 9 collaborations
Rauan Kaiyrzhanov 8 collaborations
Arianna Tucci 8 collaborations
Ehsan Ghayoor Karimiani 8 collaborations
Clarissa Rocca 8 collaborations
David Murphy 7 collaborations
Jana Vandrovcova 7 collaborations
Hamid Galehdari 7 collaborations
James R Lupski 7 collaborations
Davut Pehlivan 6 collaborations
Tipu Sultan 6 collaborations
Cornelis Blauwendraat 6 collaborations
John Hardy 6 collaborations
Tobias B Haack 6 collaborations
Emer O'Connor 5 collaborations
Neda Mazaheri 5 collaborations
Valentina Stanley 5 collaborations
Gholamreza Shariati 5 collaborations
Yalda Jamshidi 5 collaborations
Mie Rizig 5 collaborations
Matt C Danzi 5 collaborations
Francesca Magrinelli 5 collaborations
Alistair T Pagnamenta 5 collaborations
Enrico Bugiardini 5 collaborations
Fowzan S Alkuraya 5 collaborations
Peter Bauer 5 collaborations
Stephan Zuchner 5 collaborations
Janice L Holton 4 collaborations
Sandra Donkervoort 4 collaborations
Carsten G Bönnemann 4 collaborations
Kailash P Bhatia 4 collaborations
Matias Wagner 4 collaborations
Jennifer E Posey 4 collaborations
Alireza Sedaghat 4 collaborations
Roisin Sullivan 4 collaborations
Mina Ryten 4 collaborations
Robert W Taylor 4 collaborations
Huw R Morris 4 collaborations
James Polke 4 collaborations
Jenny C Taylor 4 collaborations
Mary B Makarious 4 collaborations
Nigel G Laing 4 collaborations
Gianina Ravenscroft 4 collaborations
Isabel C Hostettler 4 collaborations
David J Werring 4 collaborations
Alejandro Horga 4 collaborations
Elisa Cali 4 collaborations
David Pellerin 4 collaborations
Rami Abou Jamra 3 collaborations
Ehsan G Karimiani 3 collaborations
Heidi Cope 3 collaborations
Zane Jaunmuktane 3 collaborations
Shazia Maqbool 3 collaborations
Fatima Rahman 3 collaborations
Marco Tartaglia 3 collaborations
Nicholas W Wood 3 collaborations
Michael Zech 3 collaborations
Erik-Jan Kamsteeg 3 collaborations
Meriel McEntagart 3 collaborations
Juliane Winkelmann 3 collaborations
Mohammadreza Dehghani 3 collaborations
Mohammad Yahya Vahidi Mehrjardi 3 collaborations
Tadahiro Mitani 3 collaborations
Shalini N Jhangiani 3 collaborations
Jawaher Zeighami 3 collaborations
Wai Yan Yau 3 collaborations
Perrine Charles 3 collaborations
Valentina Cipriani 3 collaborations
Siddharth Banka 3 collaborations
Rita Horvath 3 collaborations
Ziv Gan-Or 3 collaborations
Faisal Zafar 3 collaborations
Nuzhat Rana 3 collaborations
Oluwadamilola O Ojo 3 collaborations
Alkyoni Athanasiou-Fragkouli 3 collaborations
Riccardo Currò 3 collaborations
Valentina Galassi Deforie 3 collaborations
Elisa Vegezzi 3 collaborations
Alexander M Rossor 3 collaborations
Andrea H Nemeth 3 collaborations
Hasnaa M Elbendary 3 collaborations
Andrew Singleton 3 collaborations
Christian Beetz 3 collaborations
Mary O'Driscoll 3 collaborations
Homa Tajsharghi 3 collaborations
Michael G Hanna 3 collaborations
Dana Marafi 3 collaborations
Sheng-Jia Lin 3 collaborations
Cassidy Petree 3 collaborations
Egor Dolzhenko 3 collaborations
Matthew Osmond 3 collaborations
Shahryar Alavi 3 collaborations
Giovanni Zifarelli 3 collaborations
Heba Morsy 3 collaborations
Andrew B Singleton 3 collaborations
Muhammad Ilyas 3 collaborations
José Luiz Pedroso 3 collaborations
Tracy Lau 3 collaborations
Richard Person 3 collaborations
Hane Lee 3 collaborations
Vykuntaraju K Gowda 3 collaborations
Varunvenkat M Srinivasan 3 collaborations
Mehran Beiraghi Toosi 3 collaborations
Marie-Josée Dicaire 3 collaborations
Bernard Brais 3 collaborations
Meisam Babaei 3 collaborations
Sara Bandres-Ciga 3 collaborations
Sara Nagy 3 collaborations
Barbara Oehl-Jaschkowitz 3 collaborations
Edwin Jabbari 3 collaborations
Martina Bocchetta 3 collaborations
Jonathan D Rohrer 3 collaborations
Majid Alfadhel 2 collaborations
Mohammad Doosti 2 collaborations
Majid Mojarrad 2 collaborations
Maja Hempel 2 collaborations
Lucia Schottlaender 2 collaborations
Thomas T Warner 2 collaborations
Marcello Niceta 2 collaborations
Christophe Philippe 2 collaborations
Kiely N James 2 collaborations
Kristin Baranano 2 collaborations
Andrea Ciolfi 2 collaborations
Francisca Millan 2 collaborations
Ange-Line Bruel 2 collaborations
Justine Rousseau 2 collaborations
Lance H Rodan 2 collaborations
Joseph Gleeson 2 collaborations
Philippe M Campeau 2 collaborations
H Houlden 2 collaborations
Davide Pareyson 2 collaborations
Barbara Garavaglia 2 collaborations
Kishore R Kumar 2 collaborations
Riccardo Berutti 2 collaborations
Sarah Wiethoff 2 collaborations
Kshitij Mankad 2 collaborations
Barbara Plecko 2 collaborations
Robert Jech 2 collaborations
Steven J Lubbe 2 collaborations
Niccolò E Mencacci 2 collaborations
Manju A Kurian 2 collaborations
Jaya Punetha 2 collaborations
Reza Azizi Malamiri 2 collaborations
Zeynep Coban-Akdemir 2 collaborations
Ender Karaca 2 collaborations
Farah Bibi 2 collaborations
Tanya Stojkovic 2 collaborations
Thierry Maisonobe 2 collaborations
Damian Smedley 2 collaborations
Katherine R Smith 2 collaborations
Gavin Arno 2 collaborations
Kristina Ibanez 2 collaborations
Letizia Vestito 2 collaborations
Sarju G Mehta 2 collaborations
Dalia Kasperaviciute 2 collaborations
Clare Turnbull 2 collaborations
Louise C Daugherty 2 collaborations
Detlef Bockenhauer 2 collaborations
Francesco Muntoni 2 collaborations
Rosaline Quinlivan 2 collaborations
Peter N Robinson 2 collaborations
Jill Clayton-Smith 2 collaborations
Janice Yip 2 collaborations
Andrew D Mumford 2 collaborations
Patrick F Chinnery 2 collaborations
Shamima Rahman 2 collaborations
John A Sayer 2 collaborations
Andrew R Webster 2 collaborations
Sue Hill 2 collaborations
Richard H Scott 2 collaborations
Tom Fowler 2 collaborations
Augusto Rendon 2 collaborations
Mark Caulfield 2 collaborations
Menelaos Pipis 2 collaborations
Ammar Al-Chalabi 2 collaborations
Kristel R van Eijk 2 collaborations
Guy A Rouleau 2 collaborations
Rebecca Schüle 2 collaborations
Audrey Putoux 2 collaborations
Javeria Raza Alvi 2 collaborations
Gaetan Lesca 2 collaborations
Njideka U Okubadejo 2 collaborations
Stefano Tozza 2 collaborations
Anna Pichiecchio 2 collaborations
Enrico Marchioni 2 collaborations
Enza Maria Valente 2 collaborations
Cristina Tassorelli 2 collaborations
Stefano Facchini 2 collaborations
Aisling Carr 2 collaborations
Hadi Manji 2 collaborations
Michael P Lunn 2 collaborations
Lucio Santoro 2 collaborations
Fiore Manganelli 2 collaborations
Sangmoon Lee 2 collaborations
Jeanne Amiel 2 collaborations
Brian Kirmse 2 collaborations
Aurora Pujol 2 collaborations
Maria J Guillen Sacoto 2 collaborations
Amber Begtrup 2 collaborations
Sabine Rudnik-Schöneborn 2 collaborations
Konrad Platzer 2 collaborations
Jinhui Ding 2 collaborations
J Raphael Gibbs 2 collaborations
Sonja W Scholz 2 collaborations
Carolin K Scriba 2 collaborations
Mark R Davis 2 collaborations
Phillipa J Lamont 2 collaborations
Behnaz Ansari 2 collaborations
A Reghan Foley 2 collaborations
Anna Sarkozy 2 collaborations
Julia Rankin 2 collaborations
Mert Karakaya 2 collaborations
Brunhilde Wirth 2 collaborations
Eleonora Lamantea 2 collaborations
Gareth Ambler 2 collaborations
Duncan Wilson 2 collaborations
Gargi Banerjee 2 collaborations
Clare Shakeshaft 2 collaborations
Hannah Cohen 2 collaborations
Rustam Al-Shahi Salman 2 collaborations
Gregory Y H Lip 2 collaborations
Martin M Brown 2 collaborations
Keith W Muir 2 collaborations
Hans Rolf Jäger 2 collaborations
Andreea Manole 2 collaborations
Conceição Bettencourt 2 collaborations
Ros Quinlivan 2 collaborations
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