Bjarne Udd

Affiliations

Neuromuscular Centre, University of Tampere, Finland.

Publications (66)

SOD1 p.D12Y variant is associated with amyotrophic lateral sclerosis/distal myopathy spectrum.

European journal of neurology

Avec: G Tasca , S Lattante , G Marangi , A Conte , D Bernardo , G Bisogni , P Mandich , M Zollino , E Ragozzino , B Udd , M Sabatelli

MYO-MRI diagnostic protocols in genetic myopathies.

Neuromuscular disorders : NMD

Avec: Jodi Warman Chardon , Jordi Díaz-Manera , Giorgio Tasca , Carsten G Bönnemann , David Gómez-Andrés , Arend Heerschap , Eugenio Mercuri , Francesco Muntoni , Anna Pichiecchio , Enzo Ricci , Maggie C Walter , Michael Hanna , Heinz Jungbluth , Jasper M Morrow , Roberto Fernández-Torrón , Bjarne Udd , John Vissing , Tarek Yousry , Susana Quijano-Roy , Volker Straub , Robert Y Carlier , Auteur inconnu

Expanding the importance of HMERF titinopathy: new mutations and clinical aspects.

Journal of neurology

Avec: Johanna Palmio , Sarah Leonard-Louis , Sabrina Sacconi , Marco Savarese , Sini Penttilä , Anna-Lena Semmler , Wolfram Kress , Tahseen Mozaffar , Tim Lai , Tanya Stojkovic , Andres Berardo , Ricardo Reisin , Shahram Attarian , Andoni Urtizberea , Ana Maria Cobo , Lorenzo Maggi , Sergei Kurbatov , Sergei Nikitin , José C Milisenda , Farzad Fatehi , Monika Raimondi , Fernando Silveira , Peter Hackman , Kristl G Claeys , Bjarne Udd

Panorama of the distal myopathies.

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology

Avec: Marco Savarese , Jaakko Sarparanta , Anna Vihola , Per Harald Jonson , Mridul Johari , Salla Rusanen , Peter Hackman , Bjarne Udd

Sarcomere level mechanics of the fast skeletal muscle of the medaka fish larva.

American journal of physiology. Cell physiology

Avec: Matteo Marcello , Viviana Cetrangolo , Ilaria Morotti , Caterina Squarci , Marco Caremani , Massimo Reconditi , Marco Savarese , Pasquale Bianco , Gabriella Piazzesi , Vincenzo Lombardi , Bjarne Udd , Ivan Conte , Vincenzo Nigro , Marco Linari

A recurrent ACTA1 amino acid change in mosaic form causes milder asymmetric myopathy.

Neuromuscular disorders : NMD

Avec: Vilma-Lotta Lehtokari , Lydia Sagath , Mark Davis , Desiree Ho , Kirsi Kiiski , Kaisa Kettunen , Matthew Demczko , Riki Stein , Matteo Vatta , Thomas L Winder , Adi Shohet , Naama Orenstein , Peter Krcho , Peter Bohuš , Sanna Huovinen , Bjarne Udd , Katarina Pelin , Nigel G Laing , Carina Wallgren-Pettersson

The crucial role of titin in fetal development: recurrent miscarriages and bone, heart and muscle anomalies characterise the severe end of titinopathies spectrum.

Journal of medical genetics

Avec: Maria Francesca Di Feo , Victoria Lillback , Manu Jokela , Meriel McEntagart , Tessa Homfray , Elisa Giorgio , Guido C Casalis Cavalchini , Alfredo Brusco , Maria Iascone , Luigina Spaccini , Patrizia D'Oria , Marco Savarese , Bjarne Udd

HSPB8 frameshift mutant aggregates weaken chaperone-assisted selective autophagy in neuromyopathies.

Autophagy

Avec: Barbara Tedesco , Leen Vendredy , Elias Adriaenssens , Marta Cozzi , Bob Asselbergh , Valeria Crippa , Riccardo Cristofani , Paola Rusmini , Veronica Ferrari , Elena Casarotto , Marta Chierichetti , Francesco Mina , Paola Pramaggiore , Mariarita Galbiati , Margherita Piccolella , Jonathan Baets , Femke Baeke , Riet De Rycke , Vincent Mouly , Tommaso Laurenzi , Ivano Eberini , Anna Vihola , Bjarne Udd , Lan Weiss , Virginia Kimonis , Vincent Timmerman , Angelo Poletti

Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy.

Nature genetics

Avec: Ana Töpf , Dan Cox , Irina T Zaharieva , Valeria Di Leo , Jaakko Sarparanta , Per Harald Jonson , Ian M Sealy , Andrei Smolnikov , Richard J White , Anna Vihola , Marco Savarese , Munise Merteroglu , Neha Wali , Kristen M Laricchia , Cristina Venturini , Bas Vroling , Sarah L Stenton , Beryl B Cummings , Elizabeth Harris , Chiara Marini-Bettolo , Jordi Diaz-Manera , Matt Henderson , Rita Barresi , Jennifer Duff , Eleina M England , Jane Patrick , Sundos Al-Husayni , Valerie Biancalana , Alan H Beggs , Istvan Bodi , Shobhana Bommireddipalli , Carsten G Bönnemann , Anita Cairns , Mei-Ting Chiew , Kristl G Claeys , Sandra T Cooper , Mark R Davis , Sandra Donkervoort , Corrie E Erasmus , Mahmoud R Fassad , Casie A Genetti , Carla Grosmann , Heinz Jungbluth , Erik-Jan Kamsteeg , Xavière Lornage , Wolfgang N Löscher , Edoardo Malfatti , Adnan Manzur , Pilar Martí , Tiziana E Mongini , Nuria Muelas , Atsuko Nishikawa , Anne O'Donnell-Luria , Narumi Ogonuki , Gina L O'Grady , Emily O'Heir , Stéphanie Paquay , Rahul Phadke , Beth A Pletcher , Norma B Romero , Meyke Schouten , Snehal Shah , Izelle Smuts , Yves Sznajer , Giorgio Tasca , Robert W Taylor , Allysa Tuite , Peter Van den Bergh , Grace VanNoy , Nicol C Voermans , Julia V Wanschitz , Elizabeth Wraige , Kimihiko Yoshimura , Emily C Oates , Osamu Nakagawa , Ichizo Nishino , Jocelyn Laporte , Juan J Vilchez , Daniel G MacArthur , Anna Sarkozy , Heather J Cordell , Bjarne Udd , Elisabeth M Busch-Nentwich , Francesco Muntoni , Volker Straub

Homozygosity of a Founder Variant c.1508dupC in

Neurology. Genetics

Avec: Johanna Palmio , Panu Kiviranta , Päivi H Hartikainen , Pirjo Isohanni , Mari Auranen , Karoliina Videman , Sini Penttilä , Sara Lehtinen , Jarkko Kirjavainen , Susanna Hintikka , Katriina Paloviita , Janna Saarela , Bjarne Udd

Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy.

Human mutation

Avec: Samantha J Bryen , Lisa J Ewans , Jason Pinner , Suzanna C MacLennan , Sandra Donkervoort , Diana Castro , Ana Töpf , Gina O'Grady , Beryl Cummings , Katherine R Chao , Ben Weisburd , Laurent Francioli , Fathimath Faiz , Adam M Bournazos , Ying Hu , Carla Grosmann , Denise M Malicki , Helen Doyle , Nanna Witting , John Vissing , Kristl G Claeys , Kathryn Urankar , Ana Beleza-Meireles , Julia Baptista , Sian Ellard , Marco Savarese , Mridul Johari , Anna Vihola , Bjarne Udd , Anirban Majumdar , Volker Straub , Carsten G Bönnemann , Daniel G MacArthur , Mark R Davis , Sandra T Cooper

HNRNPDL-related muscular dystrophy: expanding the clinical, morphological and MRI phenotypes.

Journal of neurology

Avec: Andrés Berardo , Xavière Lornage , Mridul Johari , Teresinha Evangelista , Claudia Cejas , Fabio Barroso , Alberto Dubrovsky , Mai Thao Bui , Guy Brochier , Maria Saccoliti , Johann Bohm , Bjarne Udd , Jocelyn Laporte , Norma Beatriz Romero , Ana Lia Taratuto

Myasthenic congenital myopathy from recessive mutations at a single residue in Na

Neurology

Avec: Nathaniel Elia , Johanna Palmio , Marisol Sampedro Castañeda , Perry B Shieh , Marbella Quinonez , Tiina Suominen , Michael G Hanna , Roope Männikkö , Bjarne Udd , Stephen C Cannon

Oligogenic basis of sporadic ALS: The example of

Neurology. Genetics

Avec: Liina Kuuluvainen , Karri Kaivola , Saana Mönkäre , Hannu Laaksovirta , Manu Jokela , Bjarne Udd , Miko Valori , Petra Pasanen , Anders Paetau , Bryan J Traynor , David J Stone , Johanna Schleutker , Minna Pöyhönen , Pentti J Tienari , Liisa Myllykangas

Genotype-phenotype correlations in recessive titinopathies.

Genetics in medicine : official journal of the American College of Medical Genetics

Avec: Marco Savarese , Anna Vihola , Emily C Oates , Rita Barresi , Chiara Fiorillo , Giorgio Tasca , Manu Jokela , Anna Sarkozy , Sushan Luo , Jordi Díaz-Manera , Christoffer Ehrstedt , Ricardo Rojas-García , Amets Sáenz , Nuria Muelas , Fortunato Lonardo , Heidi Fodstad , Talha Qureshi , Mridul Johari , Salla Välipakka , Helena Luque , Philippe Petiot , Adolfo López de Munain , Marika Pane , Eugenio Mercuri , Annalaura Torella , Vincenzo Nigro , Guja Astrea , Filippo Maria Santorelli , Claudio Bruno , Thierry Kuntzer , Isabel Illa , Juan J Vílchez , Cedric Julien , Ana Ferreiro , Alessandro Malandrini , Chong-Bo Zhao , Olivera Casar-Borota , Mark Davis , Francesco Muntoni , Peter Hackman , Bjarne Udd

Identification and Characterization of Splicing Defects by Single-Molecule Real-Time Sequencing Technology (PacBio).

Journal of neuromuscular diseases

Avec: Marco Savarese , Talha Qureshi , Annalaura Torella , Pia Laine , Teresa Giugliano , Per Harald Jonson , Mridul Johari , Lars Paulin , Giulio Piluso , Petri Auvinen , Vincenzo Nigro , Bjarne Udd , Peter Hackman

Adult-onset dominant muscular dystrophy in Greek families caused by Annexin A11.

Annals of clinical and translational neurology

Avec: Mridul Johari , George Papadimas , Constantinos Papadopoulos , Sophia Xirou , Aikaterini Kanavaki , Margarita Chrysanthou-Piterou , Salla Rusanen , Marco Savarese , Peter Hackman , Bjarne Udd

Anoctamin-5 related muscle disease: clinical and genetic findings in a large European cohort.

Brain : a journal of neurology

Avec: Alexander de Bruyn , Federica Montagnese , Sonja Holm-Yildiz , Nanna Scharff Poulsen , Tanya Stojkovic , Anthony Behin , Johanna Palmio , Manu Jokela , Jan L De Bleecker , Marianne de Visser , Anneke J van der Kooi , Leroy Ten Dam , Cristina Domínguez González , Lorenzo Maggi , Annamaria Gallone , Anna Kostera-Pruszczyk , Anna Macias , Anna Łusakowska , Velina Nedkova , Montse Olive , Rodrigo Álvarez-Velasco , Julia Wanschitz , Carmen Paradas , Fabiola Mavillard , Giorgia Querin , Gorka Fernández-Eulate , Ros Quinlivan , Maggie C Walter , Christophe E Depuydt , Bjarne Udd , John Vissing , Benedikt Schoser , Kristl G Claeys

Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis.

Journal of neurology

Avec: Diana Esteller , Marianela Schiava , Rocío-Nur Villar-Quiles , Boris Dibowski , Nadia Venturelli , Pascal Laforet , Jorge Alonso-Pérez , Montse Olive , Cristina Domínguez-González , Carmen Paradas , Beatriz Vélez , Anna Kostera-Pruszczyk , Biruta Kierdaszuk , Carmelo Rodolico , Kristl Claeys , Endre Pál , Edoardo Malfatti , Sarah Souvannanorath , Alicia Alonso-Jiménez , Willem de Ridder , Eline De Smet , George Papadimas , Constantinos Papadopoulos , Sofia Xirou , Sushan Luo , Nuria Muelas , Juan J Vilchez , Alba Ramos-Fransi , Mauro Monforte , Giorgio Tasca , Bjarne Udd , Johanna Palmio , Srtuhi Sri , Sabine Krause , Benedikt Schöser , Roberto Fernández-Torrón , Adolfo López de Munain , Elena Pegoraro , Maria Elena Farrugia , Mathias Vorgerd , Georgious Manousakis , Jean Baptiste Chanson , Aleksandra Nadaj-Pakleza , Hakan Cetin , Umesh Badrising , Jodi Warman-Chardon , Jorge Bevilacqua , Nicholas Earle , Mario Campero , Jorge Díaz , Chiseko Ikenaga , Thomas E Lloyd , Ichizo Nishino , Yukako Nishimori , Yoshihiko Saito , Yasushi Oya , Yoshiaki Takahashi , Atsuko Nishikawa , Ryo Sasaki , Chiara Marini-Bettolo , Michela Guglieri , Volker Straub , Tanya Stojkovic , Robert Y Carlier , Jordi Díaz-Manera

A comprehensive study of skeletal muscle imaging in FHL1-related reducing body myopathy.

Annals of clinical and translational neurology

Avec: Payam Mohassel , Pomi Yun , Safoora Syeda , Abhinandan Batra , Andrew J Bradley , Sandra Donkervoort , Soledad Monges , Julie S Cohen , Doris G Leung , Francina Munell , Carlos Ortez , Angel Sánchez-Montáñez , Peter Karachunski , John Brandsema , Livija Medne , Vinay Chaudhry , Giorgio Tasca , A Reghan Foley , Bjarne Udd , Andrew E Arai , Glenn A Walter , Carsten G Bönnemann

Neurology

Avec: Vesa Periviita , Johanna Palmio , Manu Jokela , Paivi Hartikainen , Anna Vihola , Tuomas Rauramaa , Bjarne Udd

New family with

Neurology. Genetics

Avec: Sejad Al-Tahan , Lan Weiss , Howard Yu , Sha Tang , Mario Saporta , Anna Vihola , Tahseen Mozaffar , Bjarne Udd , Virginia Kimonis

Improving Copy Number Variant Detection from Sequencing Data with a Combination of Programs and a Predictive Model.

The Journal of molecular diagnostics : JMD

Avec: Salla Välipakka , Marco Savarese , Lydia Sagath , Meharji Arumilli , Teresa Giugliano , Bjarne Udd , Peter Hackman

Actininopathy: A new muscular dystrophy caused by ACTN2 dominant mutations.

Annals of neurology

Avec: Marco Savarese , Johanna Palmio , Juan José Poza , Jan Weinberg , Montse Olive , Ana Maria Cobo , Anna Vihola , Per Harald Jonson , Jaakko Sarparanta , Federico García-Bragado , Jon Andoni Urtizberea , Peter Hackman , Bjarne Udd

Novel mutation in

Neurology. Genetics

Avec: Anna Vihola , Johanna Palmio , Olof Danielsson , Sini Penttilä , Daniel Louiselle , Sara Pittman , Conrad Weihl , Bjarne Udd

New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy.

Brain : a journal of neurology

Avec: Jorge Alonso-Pérez , Lidia González-Quereda , Luca Bello , Michela Guglieri , Volker Straub , Pia Gallano , Claudio Semplicini , Elena Pegoraro , Vittoria Zangaro , Andrés Nascimento , Carlos Ortez , Giacomo Pietro Comi , Leroy Ten Dam , Marianne De Visser , A J van der Kooi , Cristina Garrido , Manuela Santos , Ulrike Schara , Andrea Gangfuß , Nicoline Løkken , Jesper Helbo Storgaard , John Vissing , Benedikt Schoser , Gabriele Dekomien , Bjarne Udd , Johanna Palmio , Adele D'Amico , Luisa Politano , Vincenzo Nigro , Claudio Bruno , Chiara Panicucci , Anna Sarkozy , Omar Abdel-Mannan , Alicia Alonso-Jimenez , Kristl G Claeys , David Gomez-Andrés , Francina Munell , Laura Costa-Comellas , Jana Haberlová , Marie Rohlenová , De Vos Elke , Jan L De Bleecker , Cristina Dominguez-González , Giorgio Tasca , Claudia Weiss , Nicolas Deconinck , Roberto Fernández-Torrón , Adolfo López de Munain , Ana Camacho-Salas , Béla Melegh , Kinga Hadzsiev , Lea Leonardis , Blaz Koritnik , Matteo Garibaldi , Juan Carlos de Leon-Hernández , Edoardo Malfatti , Arturo Fraga-Bau , Isabelle Richard , Isabel Illa , Jordi Díaz-Manera

Out-of-Frame Mutations in

Neurology. Genetics

Avec: Marco Savarese , Anna Vihola , Manu E Jokela , Sanna Pauliina Huovinen , Simonetta Gerevini , Annalaura Torella , Mridul Johari , Marina Scarlato , Per Harald Jonson , Maria Elena Onore , Peter Hackman , Mathias Gautel , Vincenzo Nigro , Stefano Carlo Previtali , Bjarne Udd

Intron mutations and early transcription termination in Duchenne and Becker muscular dystrophy.

Human mutation

Avec: Megan A Waldrop , Steven A Moore , Katherine D Mathews , Benjamin W Darbro , Livja Medne , Richard Finkel , Anne M Connolly , Thomas O Crawford , Daniel Drachman , Nicolas Wein , Ali A Habib , Monika A Krzesniak-Swinarska , Craig M Zaidman , James J Collins , Manu Jokela , Bjarne Udd , John W Day , Gloria Ortiz-Guerrero , Jeff Statland , Russell J Butterfield , Diane M Dunn , Robert B Weiss , Kevin M Flanigan

Extension of the DNAJB2a isoform in a dominant neuromyopathy family.

Human molecular genetics

Avec: Jaakko Sarparanta , Per Harald Jonson , Jens Reimann , Anna Vihola , Helena Luque , Sini Penttilä , Mridul Johari , Marco Savarese , Peter Hackman , Cornelia Kornblum , Bjarne Udd

Rare

medRxiv : the preprint server for health sciences

Avec: Johanna Ranta-Aho , Kevin J Felice , Per Harald Jonson , Jaakko Sarparanta , Johanna Palmio , Giorgio Tasca , Mario Sabatelli , Cédric Yvorel , Ines Harzallah , Renaud Touraine , Lynn Pais , Christina A Austin-Tse , Vijay Ganesh , Melanie C O'Leary , Heidi L Rehm , Michael K Hehir , Sub Subramony , Qian Wu , Bjarne Udd , Marco Savarese

Revealing myopathy spectrum: integrating transcriptional and clinical features of human skeletal muscles with varying health conditions.

Communications biology

Avec: Huahua Zhong , Veronica Sian , Mridul Johari , Shintaro Katayama , Ali Oghabian , Per Harald Jonson , Peter Hackman , Marco Savarese , Bjarne Udd

Mutation update for the ACTN2 gene.

Human mutation

Avec: Johanna Ranta-Aho , Montse Olive , Marie Vandroux , Giorgia Roticiani , Cristina Dominguez , Mridul Johari , Annalaura Torella , Johann Böhm , Janina Turon , Vincenzo Nigro , Peter Hackman , Jocelyn Laporte , Bjarne Udd , Marco Savarese

Titin copy number variations associated with dominant inherited phenotypes.

Journal of medical genetics

Avec: Aurélien Perrin , Corinne Métay , Marco Savarese , Rabah Ben Yaou , German Demidov , Isabelle Nelson , Guilhem Solé , Yann Péréon , Enrico Silvio Bertini , Fabiana Fattori , Adele D'Amico , Federica Ricci , Mira Ginsberg , Andreea Seferian , Odile Boespflug-Tanguy , Laurent Servais , Françoise Chapon , Emmeline Lagrange , Karen Gaudon , Adrien Bloch , Robin Ghanem , Lucie Guyant-Maréchal , Mridul Johari , Charles Van Goethem , Michel Fardeau , Raul Juntas Morales , Casie A Genetti , Minttu Marttila , Michel Koenig , Alan H Beggs , Bjarne Udd , Gisèle Bonne , Mireille Cossée

Current advance on distal myopathy genetics.

Current opinion in neurology

Avec: Johanna Ranta-Aho , Mridul Johari , Bjarne Udd

Neuromuscular Diseases Due to Chaperone Mutations: A Review and Some New Results.

International journal of molecular sciences

Avec: Jaakko Sarparanta , Per Harald Jonson , Sabita Kawan , Bjarne Udd

Homozygous Nonsense Mutation p.Q274X in TRIM63 (MuRF1) in a Patient with Mild Skeletal Myopathy and Cardiac Hypertrophy.

Journal of neuromuscular diseases

Avec: Manu Jokela , Peter Baumann , Sanna Huovinen , Sini Penttilä , Bjarne Udd

Dominantly inherited distal nemaline/cap myopathy caused by a large deletion in the nebulin gene.

Neuromuscular disorders : NMD

Avec: Kirsi J Kiiski , Vilma-Lotta Lehtokari , Anna K Vihola , Jenni M Laitila , Sanna Huovinen , Lydia J Sagath , Anni E Evilä , Anders E Paetau , Caroline A Sewry , Peter B Hackman , Katarina B Pelin , Carina Wallgren-Pettersson , Bjarne Udd

An unusual ryanodine receptor 1 (RYR1) phenotype: Mild calf-predominant myopathy.

Neurology

Avec: Manu Jokela , Giorgio Tasca , Anna Vihola , Eugenio Mercuri , Per-Harald Jonson , Sara Lehtinen , Salla Välipakka , Marika Pane , Maria Donati , Mridul Johari , Marco Savarese , Sanna Huovinen , Pirjo Isohanni , Johanna Palmio , Päivi Hartikainen , Bjarne Udd

A novel COL6A2 mutation causing late-onset limb-girdle muscular dystrophy.

Journal of neurology

Avec: Manu Jokela , Sara Lehtinen , Johanna Palmio , Anna-Maija Saukkonen , Sanna Huovinen , Anna Vihola , Bjarne Udd

Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy.

Journal of neurology

Avec: Markus T Sainio , Salla Välipakka , Bruno Rinaldi , Helena Lapatto , Anders Paetau , Simo Ojanen , Virginia Brilhante , Manu Jokela , Sanna Huovinen , Mari Auranen , Johanna Palmio , Sylvie Friant , Emil Ylikallio , Bjarne Udd , Henna Tyynismaa

Congenital asymmetric distal myopathy with hemifacial weakness caused by a heterozygous large de novo mosaic deletion in nebulin.

Neuromuscular disorders : NMD

Avec: Lydia Sagath , Vilma-Lotta Lehtokari , Salla Välipakka , Anna Vihola , Maria Gardberg , Peter Hackman , Katarina Pelin , Manu Jokela , Kirsi Kiiski , Bjarne Udd , Carina Wallgren-Pettersson

Is Gene-Size an Issue for the Diagnosis of Skeletal Muscle Disorders?

Journal of neuromuscular diseases

Avec: Marco Savarese , Salla Välipakka , Mridul Johari , Peter Hackman , Bjarne Udd

Consensus-based care recommendations for adults with myotonic dystrophy type 2.

Neurology. Clinical practice

Avec: Benedikt Schoser , Federica Montagnese , Guillaume Bassez , Barbara Fossati , Josep Gamez , Chad Heatwole , James Hilbert , Cornelia Kornblum , Anne Kostera-Pruszczyk , Ralf Krahe , Anna Lusakowska , Giovanni Meola , Richard Moxley , Charles Thornton , Bjarne Udd , Paul Formaker , Auteur inconnu

Whole-body muscle MRI characteristics of LAMA2-related congenital muscular dystrophy children: An emerging pattern.

Neuromuscular disorders : NMD

Avec: Hossam M Sakr , Nagia Fahmy , Nermine S Elsayed , Hala Abdulhady , Tamer A El-Sobky , Amr M Saadawy , Christophe Beroud , Bjarne Udd

Dominant Distal Myopathy 3 (MPD3) Caused by a Deletion in the

Neurology. Genetics

Avec: Peter Hackman , Salla M Rusanen , Mridul Johari , Anna Vihola , Per Harald Jonson , Jaakko Sarparanta , Kati Donner , Päivi Lahermo , Sampo Koivunen , Helena Luque , Merja Soininen , Ibrahim Mahjneh , Mari Auranen , Meharji Arumilli , Marco Savarese , Bjarne Udd

Differential effects of mutations of POPDC proteins on heteromeric interaction and membrane trafficking.

Acta neuropathologica communications

Avec: Alexander H Swan , Roland F R Schindler , Marco Savarese , Isabelle Mayer , Susanne Rinné , Felix Bleser , Anne Schänzer , Andreas Hahn , Mario Sabatelli , Francesco Perna , Kathryn Chapman , Mark Pfuhl , Alan C Spivey , Niels Decher , Bjarne Udd , Giorgio Tasca , Thomas Brand

Biallelic truncating variants in children with titinopathy represent a recognizable condition with distinctive muscular and cardiac characteristics: a report on five patients.

Frontiers in cardiovascular medicine

Avec: Anwar Baban , Marianna Cicenia , Monia Magliozzi , Giovanni Parlapiano , Marco Cirillo , Giulia Pascolini , Fabiana Fattori , Maria Gnazzo , Pasqualina Bruno , Lorenzo De Luca , Luca Di Chiara , Paola Francalanci , Bjarne Udd , Aurelio Secinaro , Antonio Amodeo , Enrico Silvio Bertini , Marco Savarese , Fabrizio Drago , Antonio Novelli

Distal myopathy.

Handbook of clinical neurology

Avec: Marco Savarese , Manu Jokela , Bjarne Udd

Protein-extending ACTN2 frameshift variants cause variable myopathy phenotypes by protein aggregation.

Annals of clinical and translational neurology

Avec: Johanna Ranta-Aho , Kevin J Felice , Per Harald Jonson , Jaakko Sarparanta , Cédric Yvorel , Ines Harzallah , Renaud Touraine , Lynn Pais , Christina A Austin-Tse , Vijay S Ganesh , Melanie C O'Leary , Heidi L Rehm , Michael K Hehir , Sub Subramony , Qian Wu , Bjarne Udd , Marco Savarese

Inferring disease course from differential exon usage in the wide titinopathy spectrum.

Annals of clinical and translational neurology

Avec: Maria Francesca Di Feo , Ali Oghabian , Ella Nippala , Mathias Gautel , Heinz Jungbluth , Francesca Forzano , Edoardo Malfatti , Claudia Castiglioni , Ilona Krey , David Gomez Andres , Angela F Brady , Maria Iascone , Anna Cereda , Lidia Pezzani , Daniel Natera De Benito , Andres Nascimiento Osorio , Berta Estévez Arias , Sergei A Kurbatov , Tania Attie-Bitach , Sheela Nampoothiri , Erin Ryan , Michelle Morrow , Svetlana Gorokhova , Brigitte Chabrol , Juha Sinisalo , Heli Tolppanen , Johanna Tolva , Francina Munell , Jessica Camacho Soriano , Maria Angeles Sanchez Duran , Mridul Johari , Homa Tajsharghi , Peter Hackman , Bjarne Udd , Marco Savarese

A Titin Truncating Variant Causing a Dominant Myopathy With Cardiac Involvement in a Large Family: The Exception That Proves the Rule.

Neurology. Genetics

Avec: Kristl G Claeys , Marco Savarese , Per Harald Jonson , Veerle Goosens , Ana Topf , Anna Vihola , Volker Straub , Bjarne Udd

The constantly evolving spectrum of phenotypes in titinopathies - will it ever stop?

Current opinion in neurology

Avec: Bjarne Udd

Mutations in the J domain of DNAJB6 cause dominant distal myopathy.

Neuromuscular disorders : NMD

Avec: Johanna Palmio , Per Harald Jonson , Michio Inoue , Jaakko Sarparanta , Rocio Bengoechea , Marco Savarese , Anna Vihola , Manu Jokela , Masanori Nakagawa , Satoru Noguchi , Montse Olivé , Marion Masingue , Emilia Kerty , Peter Hackman , Conrad C Weihl , Ichizo Nishino , Bjarne Udd

Improved Criteria for the Classification of Titin Variants in Inherited Skeletal Myopathies.

Journal of neuromuscular diseases

Avec: Marco Savarese , Mridul Johari , Katherine Johnson , Meharji Arumilli , Annalaura Torella , Ana Töpf , Anna Rubegni , Marius Kuhn , Teresa Giugliano , Dieter Gläser , Fabiana Fattori , Rachel Thompson , Sini Penttilä , Sara Lehtinen , Sara Gibertini , Alessandra Ruggieri , Marina Mora , Ales Maver , Borut Peterlin , Ami Mankodi , Hanns Lochmüller , Filippo Maria Santorelli , Benedikt Schoser , Lenka Fajkusová , Volker Straub , Vincenzo Nigro , Peter Hackman , Bjarne Udd

Clinical spectrum and gene mutations in a Chinese cohort with anoctaminopathy.

Neuromuscular disorders : NMD

Avec: Shuang Cai , Mingshi Gao , Jianying Xi , Zhuo Liu , Dongyue Yue , Hui Wu , Haixia Bi , Jing Li , Zonghui Liang , Chongbo Zhao , Bjarne Udd , Sushan Luo , Jiahong Lu

Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions.

Nature communications

Avec: Montse Olivé , Martin Engvall , Gianina Ravenscroft , Macarena Cabrera-Serrano , Hong Jiao , Carlo Augusto Bortolotti , Marcello Pignataro , Matteo Lambrughi , Haibo Jiang , Alistair R R Forrest , Núria Benseny-Cases , Stefan Hofbauer , Christian Obinger , Gianantonio Battistuzzi , Marzia Bellei , Marco Borsari , Giulia Di Rocco , Helena M Viola , Livia C Hool , Josep Cladera , Kristina Lagerstedt-Robinson , Fengqing Xiang , Anna Wredenberg , Francesc Miralles , Juan José Baiges , Edoardo Malfatti , Norma B Romero , Nathalie Streichenberger , Christophe Vial , Kristl G Claeys , Chiara S M Straathof , An Goris , Christoph Freyer , Martin Lammens , Guillaume Bassez , Juha Kere , Paula Clemente , Thomas Sejersen , Bjarne Udd , Noemí Vidal , Isidre Ferrer , Lars Edström , Anna Wedell , Nigel G Laing

Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis.

Brain : a journal of neurology

Avec: Macarena Cabrera-Serrano , Laure Caccavelli , Marco Savarese , Anna Vihola , Manu Jokela , Mridul Johari , Thierry Capiod , Marine Madrange , Enrico Bugiardini , Stefen Brady , Rosaline Quinlivan , Ashirwad Merve , Renata Scalco , David Hilton-Jones , Henry Houlden , Halil Ibrahim Aydin , Serdar Ceylaner , Sarah Drewes , Jerry Vockley , Rhonda L Taylor , Chiara Folland , Aasta Kelly , Hayley Goullee , Emil Ylikallio , Mari Auranen , Henna Tyynismaa , Bjarne Udd , Alistair R R Forrest , Mark R Davis , Drago Bratkovic , Nicholas Manton , Thomas Robertson , Cullen O'Gorman , Pamela McCombe , Nigel G Laing , Liza Phillips , Pascale de Lonlay , Gianina Ravenscroft

Novel TNNT1 mutation and mild nemaline myopathy phenotype in an Italian patient.

Neuromuscular disorders : NMD

Avec: Antonio Petrucci , Guido Primiano , Marco Savarese , Cristina Sancricca , Bjarne Udd , Serenella Servidei

Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions.

Acta neuropathologica

Avec: Mridul Johari , Jaakko Sarparanta , Anna Vihola , Per Harald Jonson , Marco Savarese , Manu Jokela , Annalaura Torella , Giulio Piluso , Edith Said , Norbert Vella , Marija Cauchi , Armelle Magot , Francesca Magri , Eleonora Mauri , Cornelia Kornblum , Jens Reimann , Tanya Stojkovic , Norma B Romero , Helena Luque , Sanna Huovinen , Päivi Lahermo , Kati Donner , Giacomo Pietro Comi , Vincenzo Nigro , Peter Hackman , Bjarne Udd

Comprehensive transcriptomic analysis shows disturbed calcium homeostasis and deregulation of T lymphocyte apoptosis in inclusion body myositis.

Journal of neurology

Avec: Mridul Johari , Anna Vihola , Johanna Palmio , Manu Jokela , Per Harald Jonson , Jaakko Sarparanta , Sanna Huovinen , Marco Savarese , Peter Hackman , Bjarne Udd

Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study.

Journal of neurology, neurosurgery, and psychiatry

Avec: Marianela Schiava , Chiseko Ikenaga , Rocío Nur Villar-Quiles , Marta Caballero-Ávila , Ana Topf , Ichizo Nishino , Virginia Kimonis , Bjarne Udd , Benedikt Schoser , Edmar Zanoteli , Paulo Victor Sgobbi Souza , Giorgio Tasca , Thomas Lloyd , Adolfo Lopez-de Munain , Carmen Paradas , Elena Pegoraro , Aleksandra Nadaj-Pakleza , Jan De Bleecker , Umesh Badrising , Alicia Alonso-Jiménez , Anna Kostera-Pruszczyk , Francesc Miralles , Jin-Hong Shin , Jorge Alfredo Bevilacqua , Montse Olivé , Matthias Vorgerd , Rudi Kley , Stefen Brady , Timothy Williams , Cristina Domínguez-González , George K Papadimas , Jodi Warman-Chardon , Kristl G Claeys , Marianne de Visser , Nuria Muelas , Pascal LaForet , Edoardo Malfatti , Lindsay N Alfano , Sruthi S Nair , Georgios Manousakis , Hani A Kushlaf , Matthew B Harms , Christopher Nance , Alba Ramos-Fransi , Carmelo Rodolico , Channa Hewamadduma , Hakan Cetin , Jorge García-García , Endre Pál , Maria Elena Farrugia , Phillipa J Lamont , Colin Quinn , Velina Nedkova-Hristova , Stojan Peric , Sushan Luo , Anders Oldfors , Kate Taylor , Stuart Ralston , Tanya Stojkovic , Conrad Weihl , Jordi Diaz-Manera , Auteur inconnu , Auteur inconnu

Use of animal models to understand titin physiology and pathology.

Journal of cellular and molecular medicine

Avec: Matteo Marcello , Viviana Cetrangolo , Marco Savarese , Bjarne Udd

A retrospective study of accuracy and usefulness of electrophysiological exercise tests.

Journal of neurology

Avec: Vesa Periviita , Manu Jokela , Johanna Palmio , Bjarne Udd

Long-term favorable prognosis in late onset dominant distal titinopathy: Tibial muscular dystrophy.

European journal of neurology

Avec: Victoria Lillback , Marco Savarese , Niina Sandholm , Peter Hackman , Bjarne Udd

Haplotype information of large neuromuscular disease genes provided by linked-read sequencing has a potential to increase diagnostic yield.

Scientific reports

Avec: Johanna Lehtonen , Anna-Maija Sulonen , Henrikki Almusa , Vilma-Lotta Lehtokari , Mridul Johari , Aino Palva , Anna H Hakonen , Kirmo Wartiovaara , Anna-Elina Lehesjoki , Bjarne Udd , Carina Wallgren-Pettersson , Katarina Pelin , Marco Savarese , Janna Saarela

Heterozygous loss-of-function variants in SPTAN1 cause a novel early childhood onset distal myopathy with chronic neurogenic features.

medRxiv : the preprint server for health sciences

Avec: Jonathan De Winter , Liedewei Van de Vondel , Biljana Ermanoska , Alice Monticelli , Arnaud Isapof , Enzo Cohen , Tanya Stojkovic , Peter Hackman , Mridul Johari , Johanna Palmio , Megan A Waldrop , Alayne P Meyer , Stefan Nicolau , Kevin M Flanigan , Ana Töpf , Jordi Diaz-Manera , Volker Straub , Cheryl Longman , Catherine A McWilliam , Rotem Orbach , Sumit Verma , Regina Laine , Sandra Donkervoort , Carsten G Bonnemann , Adriana Rebelo , Stephan Züchner , Tiffany Grider , Michael E Shy , Isabelle Maystadt , Florence Demurger , Anita Cairns , Sarah Beecroft , Chiara Folland , Willem De Ridder , Gina Ravenscroft , Gisèle Bonne , Bjarne Udd , Jonathan Baets

Réseau de co-auteurs

Marco Savarese 35 collaborations

Mridul Johari 22 collaborations

Peter Hackman 21 collaborations

Anna Vihola 20 collaborations

Johanna Palmio 17 collaborations

Manu Jokela 17 collaborations

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Jaakko Sarparanta 11 collaborations

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Volker Straub 8 collaborations

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