Michael E Shy

Affiliations

From Translational Sciences (H.W., M.D., K.W., T.X., K.M.C.), Sanofi Research; Biostatistics and Programming (J.L.), Sanofi Development, Framingham, MA; Department of Neurology (X.W., R.Z., A.B., Y.B., L.G., S.M.E.F., T.G., M.E.S.), Carver College of Medicine, University of Iowa, Iowa City; Department of Neuromuscular Diseases (A.M.R., M.M.R.), UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, University College London, UK; and Waisman Center and Department of Comparative Biosciences (J.S.), University of Wisconsin, Madison.

Publications (55)

MicroRNAs as Biomarkers of Charcot-Marie-Tooth Disease Type 1A.

Neurology

Avec: Hongge Wang , Matthew Davison , Kathryn Wang , Tai-He Xia , Katherine M Call , Jun Luo , Xingyao Wu , Riccardo Zuccarino , Alexa Bacha , Yunhong Bai , Laurie Gutmann , Shawna M E Feely , Tiffany Grider , Alexander M Rossor , Mary M Reilly , Michael E Shy , John Svaren

Mutation update for myelin protein zero-related neuropathies and the increasing role of variants causing a late-onset phenotype.

Journal of neurology

Avec: Ilaria Callegari , C Gemelli , A Geroldi , F Veneri , P Mandich , M D'Antonio , D Pareyson , M E Shy , A Schenone , V Prada , M Grandis

Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association Study.

Journal of neuromuscular diseases

Avec: Feifei Tao , Gary W Beecham , Adriana P Rebelo , Susan H Blanton , John J Moran , Camila Lopez-Anido , John Svaren , Lisa Abreu , Devon Rizzo , Callyn A Kirk , Xingyao Wu , Shawna Feely , Camiel Verhamme , Mario A Saporta , David N Herrmann , John W Day , Charlotte J Sumner , Thomas E Lloyd , Jun Li , Sabrina W Yum , Franco Taroni , Frank Baas , Byung-Ok Choi , Davide Pareyson , Steven S Scherer , Mary M Reilly , Michael E Shy , Stephan Züchner , Auteur inconnu

MFN2 mutations in Charcot-Marie-Tooth disease alter mitochondria-associated ER membrane function but do not impair bioenergetics.

Human molecular genetics

Avec: Delfina Larrea , Marta Pera , Adriano Gonnelli , Rubén Quintana-Cabrera , H Orhan Akman , Cristina Guardia-Laguarta , Kevin R Velasco , Estela Area-Gomez , Federica Dal Bello , Diego De Stefani , Rita Horvath , Michael E Shy , Eric A Schon , Marta Giacomello

Are we prepared for clinical trials in Charcot-Marie-Tooth disease?

Brain research

Avec: A M Rossor , M E Shy , M M Reilly

A longitudinal and cross-sectional study of plasma neurofilament light chain concentration in Charcot-Marie-Tooth disease.

Journal of the peripheral nervous system : JPNS

Avec: Alexander Martin Rossor , Mahima Kapoor , Henny Wellington , Emily Spaulding , James N Sleigh , Robert W Burgess , Matilde Laura , Henrik Zetterberg , Alexa Bacha , Xingyao Wu , Amanda Heslegrave , Michael E Shy , Mary M Reilly

Hereditary neuropathies: A pathological perspective.

Journal of the peripheral nervous system : JPNS

Avec: Tiziana Cavallaro , Matteo Tagliapietra , Gian Maria Fabrizi , Yunhong Bai , Michael E Shy , Jean-Michel Vallat

Loss of function MPZ mutation causes milder CMT1B neuropathy.

Journal of the peripheral nervous system : JPNS

Avec: Paige Howard , Shawna M E Feely , Tiffany Grider , Alexa Bacha , Marina Scarlato , Raffaella Fazio , Angelo Quattrini , Michael E Shy , Stefano C Previtali

Mitochondrial Phenotypes in Genetically Diverse Neurodegenerative Diseases and Their Response to Mitofusin Activation.

Cells

Avec: Xiawei Dang , Emily K Walton , Barbara Zablocka , Robert H Baloh , Michael E Shy , Gerald W Dorn

TRPV4 neuromuscular disease registry highlights bulbar, skeletal and proximal limb manifestations.

Brain : a journal of neurology

Avec: Gage Kosmanopoulos , Jack K Donohue , Maya Hoke , Simone Thomas , Margo A Peyton , Linh Vo , Thomas O Crawford , Reza Sadjadi , David N Herrmann , Sabrina W Yum , Mary M Reilly , Steven S Scherer , Richard S Finkel , Richard A Lewis , Davide Pareyson , Chiara Pisciotta , David Walk , Michael E Shy , Charlotte J Sumner , Auteur inconnu , Brett A McCray

A neuropathy-associated kinesin KIF1A mutation hyper-stabilizes the motor-neck interaction during the ATPase cycle.

The EMBO journal

Avec: Manatsu Morikawa , Nivedita U Jerath , Tadayuki Ogawa , Momo Morikawa , Yosuke Tanaka , Michael E Shy , Stephan Zuchner , Nobutaka Hirokawa

Disease Progression in Charcot-Marie-Tooth Disease Related to MPZ Mutations: A Longitudinal Study.

Annals of neurology

Avec: Vera Fridman , Stefan Sillau , Jacob Bockhorst , Kaitlin Smith , Isabella Moroni , Emanuela Pagliano , Chiara Pisciotta , Guiseppe Piscosquito , Matilde Laurá , Francesco Muntoni , Chelsea Bacon , Shawna Feely , Tiffany Grider , Laurie Gutmann , Rosemary Shy , Janel Wilcox , David N Herrmann , Jun Li , Sindhu Ramchandren , Charlotte J Sumner , Thomas E Lloyd , John Day , Carly E Siskind , Sabrina W Yum , Reza Sadjadi , Richard S Finkel , Steven S Scherer , Davide Pareyson , Mary M Reilly , Michael E Shy , Auteur inconnu

Trials for Slowly Progressive Neurogenetic Diseases Need Surrogate Endpoints.

Annals of neurology

Avec: Mary M Reilly , David N Herrmann , Davide Pareyson , Steven S Scherer , Richard S Finkel , Stephan Züchner , Joshua Burns , Michael E Shy

Peripheral neuropathy in mitochondrial disease.

Handbook of clinical neurology

Avec: Rita Horvath , Jessica Medina , Mary M Reilly , Michael E Shy , Stephan Zuchner

Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants.

Brain : a journal of neurology

Avec: Christopher J Record , Mariola Skorupinska , Matilde Laura , Alexander M Rossor , Davide Pareyson , Chiara Pisciotta , Shawna M E Feely , Thomas E Lloyd , Rita Horvath , Reza Sadjadi , David N Herrmann , Jun Li , David Walk , Sabrina W Yum , Richard A Lewis , John Day , Joshua Burns , Richard S Finkel , Mario A Saporta , Sindhu Ramchandren , Michael D Weiss , Gyula Acsadi , Vera Fridman , Francesco Muntoni , Roy Poh , James M Polke , Stephan Zuchner , Michael E Shy , Steven S Scherer , Mary M Reilly , Auteur inconnu

Lower limb muscle MRI fat fraction is a responsive outcome measure in CMT X1, 1B and 2A.

Annals of clinical and translational neurology

Avec: Carolynne M Doherty , Jasper M Morrow , Riccardo Zuccarino , Paige Howard , Stephen Wastling , Menelaos Pipis , Nick Zafeiropoulos , Katherine J Stephens , Tiffany Grider , Shawna M E Feely , Peggy Nopoulous , Mariola Skorupinska , Evelin Milev , Emma Nicolaisen , Magdalena Dudzeic , Amy McDowell , Nuran Dilek , Francesco Muntoni , Alexander M Rossor , Sachit Shah , Matilde Laura , Tarek A Yousry , Daniel Thedens , John Thornton , Michael E Shy , Mary M Reilly

Refining clinical trial inclusion criteria to optimize the standardized response mean of the CMTPedS.

Annals of clinical and translational neurology

Avec: Kayla M D Cornett , Manoj P Menezes , Paula Bray , Rosemary R Shy , Isabella Moroni , Emanuela Pagliano , Davide Pareyson , Tim Estilow , Sabrina W Yum , Trupti Bhandari , Francesco Muntoni , Matilde Laura , Mary M Reilly , Richard S Finkel , Katy J Eichinger , David N Herrmann , Michael E Shy , Joshua Burns , Auteur inconnu

Satisfaction with ankle foot orthoses in individuals with Charcot-Marie-Tooth disease.

Muscle & nerve

Avec: Riccardo Zuccarino , Kirsten M Anderson , Michael E Shy , Jason M Wilken

Regulating PMP22 expression as a dosage sensitive neuropathy gene.

Brain research

Avec: Harrison Pantera , Michael E Shy , John Svaren

Association Between Body Mass Index and Disability in Children With Charcot-Marie-Tooth Disease.

Neurology

Avec: Gabrielle A Donlevy , Sarah P Garnett , Kayla M D Cornett , Marnee J McKay , Jennifer N Baldwin , Rosemary R Shy , Sabrina W Yum , Timothy Estilow , Isabella Moroni , Maria Foscan , Emanuela Pagliano , Davide Pareyson , Matilde Laura , Trupti Bhandari , Francesco Muntoni , Mary M Reilly , Richard S Finkel , Janet E Sowden , Katy J Eichinger , David N Herrmann , Michael E Shy , Joshua Burns , Manoj P Menezes

Validation of the Italian version of the pediatric CMT quality of life outcome measure.

Journal of the peripheral nervous system : JPNS

Avec: Isabella Moroni , Federica Rachele Danti , Davide Pareyson , Emanuela Pagliano , Giuseppe Piscosquito , Maria Foscan , Alessia Marchi , Anna Ardissone , Silvia Genitrini , Tong Tong Wu , Michael E Shy , Sindhu Ramchandren

Biallelic variants in COQ7 cause distal hereditary motor neuropathy with upper motor neuron signs.

Brain : a journal of neurology

Avec: Adriana P Rebelo , Pedro J Tomaselli , Jessica Medina , Ying Wang , Maike F Dohrn , Eva Nyvltova , Matt C Danzi , Mark Garrett , Sean E Smith , Alan Pestronk , Chengcheng Li , Ariel Ruiz , Elizabeth Jacobs , Shawna M E Feely , Marcondes C França , Marcus V Gomes , Diogo F Santos , Surinder Kumar , David B Lombard , Mario Saporta , Siegfried Hekimi , Antoni Barrientos , Conrad Weihl , Michael E Shy , Wilson Marques , Stephan Zuchner

Parent-proxy pediatric CMT quality of life outcome measure: Validation of the Italian version.

Journal of the peripheral nervous system : JPNS

Avec: Federica Rachele Danti , Emanuela Pagliano , Davide Pareyson , Maria Foscan , Alessia Marchi , Alessia Feoli , Fabio Bruschi , Giuseppe Piscosquito , Micheal E Shy , Sindhu Ramchandren , Isabella Moroni , Tong Tong Wu

Quantitative Foot Muscle Magnetic Resonance Imaging Reliably Measures Disease Progression in Children and Adolescents with Charcot-Marie-Tooth Disease Type 1A.

Annals of neurology

Avec: Carolynne M Doherty , Paige Howard , Luke F O'Donnell , Riccardo Zuccarino , Stephen Wastling , Evelin Milev , Tina Banks , Sachit Shah , Nick Zafeiropoulos , Katherine J Stephens , Anna Sarkozy , Tiffany Grider , Shawna M E Feely , Adnan Manzur , Rosemary R Shy , Mariola Skorupinska , Menelaos Pipis , Emma Nicolaisen , Amy McDowell , Nuran Dilek , Alexander M Rossor , Matilde Laura , Christopher Clark , Francesco Muntoni , Daniel Thedens , John Thornton , Jasper M Morrow , Michael E Shy , Mary M Reilly

Schwann cell transcript biomarkers for hereditary neuropathy skin biopsies.

Annals of neurology

Avec: John Svaren , John J Moran , Xingyao Wu , Riccardo Zuccarino , Chelsea Bacon , Yunhong Bai , Raghu Ramesh , Laurie Gutmann , Daniel M Anderson , Derek Pavelec , Michael E Shy

Variation in SIPA1L2 is correlated with phenotype modification in Charcot- Marie- Tooth disease type 1A.

Annals of neurology

Avec: Feifei Tao , Gary W Beecham , Adriana P Rebelo , John Svaren , Susan H Blanton , John J Moran , Camila Lopez-Anido , Jasper M Morrow , Lisa Abreu , Devon Rizzo , Callyn A Kirk , Xingyao Wu , Shawna Feely , Camiel Verhamme , Mario A Saporta , David N Herrmann , John W Day , Charlotte J Sumner , Thomas E Lloyd , Jun Li , Sabrina W Yum , Franco Taroni , Frank Baas , Byung-Ok Choi , Davide Pareyson , Steven S Scherer , Mary M Reilly , Michael E Shy , Stephan Züchner , Auteur inconnu

Author Correction: 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

Targeted next-generation sequencing panels in the diagnosis of Charcot-Marie-Tooth disease.

Neurology

Avec: Andrea Cortese , Janel E Wilcox , James M Polke , Roy Poh , Mariola Skorupinska , Alexander M Rossor , Matilde Laura , Pedro J Tomaselli , Henry Houlden , Michael E Shy , Mary M Reilly

Burst mitofusin activation reverses neuromuscular dysfunction in murine CMT2A.

eLife

Avec: Antonietta Franco , Xiawei Dang , Emily K Walton , Joshua N Ho , Barbara Zablocka , Cindy Ly , Timothy M Miller , Robert H Baloh , Michael E Shy , Andrew S Yoo , Gerald W Dorn

A CADM3 variant causes Charcot-Marie-Tooth disease with marked upper limb involvement.

Brain : a journal of neurology

Avec: Adriana P Rebelo , Andrea Cortese , Amit Abraham , Yael Eshed-Eisenbach , Gal Shner , Anna Vainshtein , Elena Buglo , Vladimir Camarena , Gabriel Gaidosh , Ramin Shiekhattar , Lisa Abreu , Steve Courel , Dennis K Burns , Yunhong Bai , Chelsea Bacon , Shawna M E Feely , Diana Castro , Elior Peles , Mary M Reilly , Michael E Shy , Stephan Zuchner

Development and Validation of the Pediatric Charcot-Marie-Tooth Disease Quality of Life Outcome Measure.

Annals of neurology

Avec: Sindhu Ramchandren , Tong Tong Wu , Richard S Finkel , Carly E Siskind , Shawna M E Feely , Joshua Burns , Mary M Reilly , Timothy Estilow , Michael E Shy , Auteur inconnu

Charcot-Marie-Tooth neuropathy score and ambulation index are both predictors of orthotic need for patients with CMT.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

Avec: Valeria Prada , Riccardo Zuccarino , Cristina Schenone , Giulia Mennella , Marina Grandis , Michael E Shy , Angelo Schenone

Randomized Phase 2 Study of ACE-083 in Patients With Charcot-Marie-Tooth Disease.

Neurology

Avec: Florian P Thomas , Thomas H Brannagan , Russell J Butterfield , Urvi Desai , Ali A Habib , David N Herrmann , Katy J Eichinger , Nicholas E Johnson-Cl , Chafic Karam , Alan Pestronk , Colin Quinn , Michael E Shy , Jeffrey M Statland , Sub H Subramony , David Walk , Katherine Stevens-Favorite , Barry Miller , Ashley Leneus , Marcie Fowler , Marc van de Rijn , Kenneth M Attie

PMP22 associates with MPZ via their transmembrane domains and disrupting this interaction causes a loss-of-function phenotype similar to hereditary neuropathy associated with liability to pressure palsies (HNPP).

bioRxiv : the preprint server for biology

Avec: Natalya Pashkova , Tabitha A Peterson , Christopher P Ptak , Stanley C Winistorfer , Christopher A Ahern , Michael E Shy , Robert C Piper

A study concept of expeditious clinical enrollment for genetic modifier studies in Charcot-Marie-Tooth neuropathy 1A.

Journal of the peripheral nervous system : JPNS

Avec: Isaac R L Xu , Matt C Danzi , Ariel Ruiz , Jacquelyn Raposo , Yeisha Arcia De Jesus , Mary M Reilly , Andrea Cortese , Michael E Shy , Steven S Scherer , David N Herrmann , Vera Fridman , Jonathan Baets , Mario Saporta , Reza Seyedsadjadi , Tanya Stojkovic , Kristl G Claeys , Pooja Patel , Shawna Feely , Adriana P Rebelo , Auteur inconnu , Maike F Dohrn , Stephan Züchner

Treatment Patterns and Treatment Satisfaction Among Adults with Alopecia Areata in the United States.

Advances in therapy

Avec: Moshe Fridman , Markqayne Ray , Kavita Gandhi , Morgan E Shy , Arash Mostaghimi

Virtual Charcot-Marie-Tooth Examination Score: A Validated Virtual Evaluation for People With Charcot-Marie-Tooth Disease.

Neurology. Clinical practice

Avec: Valeria Prada , Matilde Laurà , Riccardo Zuccarino , Mary M Reilly , Michael E Shy

Neuropathy due to bi-allelic SH3TC2 variants: genotype-phenotype correlation and natural history.

Brain : a journal of neurology

Avec: Tyler Rehbein , Tong Tong Wu , Simona Treidler , Davide Pareyson , Richard Lewis , Sabrina W Yum , Brett A McCray , Sindhu Ramchandren , Joshua Burns , Jun Li , Richard S Finkel , Steven S Scherer , Stephan Zuchner , Michael E Shy , Mary M Reilly , David N Herrmann

A humanized yeast model reveals dominant-negative properties of neuropathy-associated alanyl-tRNA synthetase mutations.

Human molecular genetics

Avec: Rebecca Meyer-Schuman , Sheila Marte , Tyler J Smith , Shawna M E Feely , Marina Kennerson , Garth Nicholson , Mike E Shy , Kristin S Koutmou , Anthony Antonellis

Validation of the parent-proxy version of the pediatric Charcot-Marie-Tooth disease quality of life instrument for children aged 0-7 years.

Journal of the peripheral nervous system : JPNS

Avec: Tong Tong Wu , Richard S Finkel , Carly E Siskind , Shawna M E Feely , Joshua Burns , Mary M Reilly , Francesco Muntoni , Evelin Milev , Timothy Estilow , Michael E Shy , Sindhu Ramchandren , Auteur inconnu

Transmembrane protease serine 5: a novel Schwann cell plasma marker for CMT1A.

Annals of clinical and translational neurology

Avec: Hongge Wang , Matthew Davison , Kathryn Wang , Tai-He Xia , Martin Kramer , Katherine Call , Jun Luo , Xingyao Wu , Riccardo Zuccarino , Chelsea Bacon , Yunhong Bai , John J Moran , Laurie Gutmann , Shawna M E Feely , Tiffany Grider , Alexander M Rossor , Mary M Reilly , John Svaren , Michael E Shy

Reliability of the Charcot-Marie-Tooth functional outcome measure.

Journal of the peripheral nervous system : JPNS

Avec: Paula Bray , Kayla M D Cornett , Timothy Estilow , Davide Pareyson , Riccardo Zuccarino , Mariola Skorupinska , Menelaos Pipis , Janet E Sowden , Steven Scherer , Mary M Reilly , Michael E Shy , David N Herrmann , Joshua Burns , Katy J Eichinger

Incidence and Clinical Features of TRPV4-Linked Axonal Neuropathies in a USA Cohort of Charcot-Marie-Tooth Disease Type 2.

Neuromolecular medicine

Avec: Sheng Deng , Shawna M E Feely , Yong Shi , Hong Zhai , Luna Zhan , Teepu Siddique , Han-Xiang Deng , Michael E Shy

A recurrent GARS mutation causes distal hereditary motor neuropathy.

Journal of the peripheral nervous system : JPNS

Avec: Diana C Lee , Rebecca Meyer-Schuman , Chelsea Bacon , Michael E Shy , Anthony Antonellis , Steven S Scherer

Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study.

Brain : a journal of neurology

Avec: Menelaos Pipis , Shawna M E Feely , James M Polke , Mariola Skorupinska , Laura Perez , Rosemary R Shy , Matilde Laura , Jasper M Morrow , Isabella Moroni , Chiara Pisciotta , Franco Taroni , Dragan Vujovic , Thomas E Lloyd , Gyula Acsadi , Sabrina W Yum , Richard A Lewis , Richard S Finkel , David N Herrmann , John W Day , Jun Li , Mario Saporta , Reza Sadjadi , David Walk , Joshua Burns , Francesco Muntoni , Sindhu Ramchandren , Rita Horvath , Nicholas E Johnson , Stephan Züchner , Davide Pareyson , Steven S Scherer , Alexander M Rossor , Michael E Shy , Mary M Reilly , Auteur inconnu

The integrated stress response contributes to tRNA synthetase-associated peripheral neuropathy.

Science (New York, N.Y.)

Avec: E L Spaulding , T J Hines , P Bais , A L D Tadenev , R Schneider , D Jewett , B Pattavina , S L Pratt , K H Morelli , M G Stum , D P Hill , C Gobet , M Pipis , M M Reilly , M J Jennings , R Horvath , Y Bai , M E Shy , B Alvarez-Castelao , E M Schuman , L P Bogdanik , E Storkebaum , R W Burgess

The Rare Disease Research Scholars Program: A training curriculum for clinical researchers with mixed methods evaluation study.

Translational science of rare diseases

Avec: Debra S Regier , Jennifer A Weaver , Nancy Cheng , Mark L Batshaw , Mary Ottolini , Michael E Shy , Marshall L Summar

Treatment with IFB-088 Improves Neuropathy in CMT1A and CMT1B Mice.

Molecular neurobiology

Avec: Yunhong Bai , Caroline Treins , Vera G Volpi , Cristina Scapin , Cinzia Ferri , Rosa Mastrangelo , Thierry Touvier , Francesca Florio , Francesca Bianchi , Ubaldo Del Carro , Frank F Baas , David Wang , Pierre Miniou , Philippe Guedat , Michael E Shy , Maurizio D'Antonio

Advances in diagnosis and management of distal sensory polyneuropathies.

Journal of neurology, neurosurgery, and psychiatry

Avec: Matthew Silsby , Eva L Feldman , Richard D Dortch , Alison Roth , Simon Haroutounian , Yusuf A Rajabally , Steve Vucic , Michael E Shy , Anne Louise Oaklander , Neil G Simon

Association of Body Mass Index With Disease Progression in Children With Charcot-Marie-Tooth Disease.

Neurology

Avec: Gabrielle A Donlevy , Kayla M D Cornett , Sarah P Garnett , Rosemary Shy , Timothy Estilow , Sabrina W Yum , Kimberly Anderson , Davide Pareyson , Isabella Moroni , Francesco Muntoni , Mary M Reilly , Richard S Finkel , David N Herrmann , Katy J Eichinger , Michael E Shy , Joshua Burns , Manoj P Menezes

Hereditary neuropathy.

Handbook of clinical neurology

Avec: Chiara Pisciotta , Michael E Shy

Activation of XBP1s attenuates disease severity in models of proteotoxic Charcot-Marie-Tooth type 1B.

bioRxiv : the preprint server for biology

Avec: Thierry Touvier , Francesca A Veneri , Anke Claessens , Cinzia Ferri , Rosa Mastrangelo , Noémie Sorgiati , Francesca Bianchi , Serena Valenzano , Ubaldo Del Carro , Cristina Rivellini , Phu Duong , Michael E Shy , Jeffery W Kelly , John Svaren , R Luke Wiseman , Maurizio D'Antonio

Patient-reported disease burden in the Accelerate Clinical Trials in Charcot-Marie-Tooth Disease Study.

Journal of the peripheral nervous system : JPNS

Avec: T Rehbein , J Purks , N Dilek , S Behrens-Spraggins , J E Sowden , K J Eichinger , Auteur inconnu , J Burns , D Pareyson , S S Scherer , M M Reilly , M E Shy , M P McDermott , C R Heatwole , D N Herrmann

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

Nature genetics

A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores.

Neurology

Avec: Vera Fridman , Stefan Sillau , Gyula Acsadi , Chelsea Bacon , Kimberly Dooley , Joshua Burns , John Day , Shawna Feely , Richard S Finkel , Tiffany Grider , Laurie Gutmann , David N Herrmann , Callyn A Kirk , Sarrah A Knause , Matilde Laurá , Richard A Lewis , Jun Li , Thomas E Lloyd , Isabella Moroni , Francesco Muntoni , Emanuela Pagliano , Chiara Pisciotta , Giuseppe Piscosquito , Sindhu Ramchandren , Mario Saporta , Reza Sadjadi , Rosemary R Shy , Carly E Siskind , Charlotte J Sumner , David Walk , Janel Wilcox , Sabrina W Yum , Stephan Züchner , Steven S Scherer , Davide Pareyson , Mary M Reilly , Michael E Shy , Auteur inconnu

Réseau de co-auteurs

Mary M Reilly 27 collaborations

David N Herrmann 17 collaborations

Davide Pareyson 17 collaborations

Shawna M E Feely 15 collaborations

None None 14 collaborations

Steven S Scherer 13 collaborations

Richard S Finkel 12 collaborations

Sabrina W Yum 11 collaborations

Joshua Burns 11 collaborations

Francesco Muntoni 10 collaborations

Riccardo Zuccarino 9 collaborations

Alexander M Rossor 9 collaborations

Sindhu Ramchandren 9 collaborations

Yunhong Bai 8 collaborations

Matilde Laura 8 collaborations

Chiara Pisciotta 8 collaborations

Stephan Zuchner 8 collaborations

Isabella Moroni 8 collaborations

Tiffany Grider 7 collaborations

John Svaren 7 collaborations

Adriana P Rebelo 7 collaborations

Jun Li 7 collaborations

Xingyao Wu 6 collaborations

Thomas E Lloyd 6 collaborations

Stephan Züchner 6 collaborations

Emanuela Pagliano 6 collaborations

Chelsea Bacon 6 collaborations

Mariola Skorupinska 6 collaborations

Menelaos Pipis 6 collaborations

Laurie Gutmann 5 collaborations

Lisa Abreu 5 collaborations

Shawna Feely 5 collaborations

Charlotte J Sumner 5 collaborations

Franco Taroni 5 collaborations

Reza Sadjadi 5 collaborations

David Walk 5 collaborations

Rosemary R Shy 5 collaborations

Katy J Eichinger 5 collaborations

Timothy Estilow 5 collaborations

Tong Tong Wu 5 collaborations

Andrea Cortese 5 collaborations

M E Shy 4 collaborations

John J Moran 4 collaborations

Rita Horvath 4 collaborations

Richard A Lewis 4 collaborations

Vera Fridman 4 collaborations

Carly E Siskind 4 collaborations

Jasper M Morrow 4 collaborations

Kayla M D Cornett 4 collaborations

Janet E Sowden 4 collaborations

Matt C Danzi 4 collaborations

Mario Saporta 4 collaborations

Alexa Bacha 3 collaborations

Callyn A Kirk 3 collaborations

Mario A Saporta 3 collaborations

John W Day 3 collaborations

M M Reilly 3 collaborations

Paige Howard 3 collaborations

John Day 3 collaborations

Gyula Acsadi 3 collaborations

James M Polke 3 collaborations

Evelin Milev 3 collaborations

Manoj P Menezes 3 collaborations

Maria Foscan 3 collaborations

Giuseppe Piscosquito 3 collaborations

Steve Courel 3 collaborations

Elena Buglo 3 collaborations

Matilde Laurà 3 collaborations

Tanya Stojkovic 3 collaborations

Henry Houlden 3 collaborations

Hongge Wang 2 collaborations

Matthew Davison 2 collaborations

Kathryn Wang 2 collaborations

Tai-He Xia 2 collaborations

Jun Luo 2 collaborations

D Pareyson 2 collaborations

Feifei Tao 2 collaborations

Gary W Beecham 2 collaborations

Susan H Blanton 2 collaborations

Camila Lopez-Anido 2 collaborations

Devon Rizzo 2 collaborations

Camiel Verhamme 2 collaborations

Frank Baas 2 collaborations

Byung-Ok Choi 2 collaborations

Xiawei Dang 2 collaborations

Emily K Walton 2 collaborations

Barbara Zablocka 2 collaborations

Robert H Baloh 2 collaborations

Gerald W Dorn 2 collaborations

Brett A McCray 2 collaborations

Stefan Sillau 2 collaborations

Matilde Laurá 2 collaborations

Rosemary Shy 2 collaborations

Janel Wilcox 2 collaborations

Jessica Medina 2 collaborations

Roy Poh 2 collaborations

Carolynne M Doherty 2 collaborations

Stephen Wastling 2 collaborations

Nick Zafeiropoulos 2 collaborations

Katherine J Stephens 2 collaborations

Emma Nicolaisen 2 collaborations

Amy McDowell 2 collaborations

Nuran Dilek 2 collaborations

Sachit Shah 2 collaborations

Daniel Thedens 2 collaborations

John Thornton 2 collaborations

Paula Bray 2 collaborations

Trupti Bhandari 2 collaborations

Gabrielle A Donlevy 2 collaborations

Sarah P Garnett 2 collaborations

Federica Rachele Danti 2 collaborations

Alessia Marchi 2 collaborations

Pedro J Tomaselli 2 collaborations

Maike F Dohrn 2 collaborations

Alan Pestronk 2 collaborations

Ariel Ruiz 2 collaborations

Yi Zhu 2 collaborations

Sara Negri 2 collaborations

Chelsea J Bacon 2 collaborations

Dana M Bis-Brewer 2 collaborations

Enrico Bugiardini 2 collaborations

Alkyoni Athanasiou-Fragkouli 2 collaborations

Nourelhoda A Haridy 2 collaborations

Rosario Isasi 2 collaborations

Alaa Khan 2 collaborations

Stefania Magri 2 collaborations

Eric Powell 2 collaborations

Paola Saveri 2 collaborations

Stefano Tozza 2 collaborations

Jana Vandrovcova 2 collaborations

Julia Dallman 2 collaborations

Elena Grignani 2 collaborations

Enrico Marchioni 2 collaborations

Beisha Tang 2 collaborations

Zhiqiang Lin 2 collaborations

Abdullah Al-Ajmi 2 collaborations

Rebecca Schüle 2 collaborations

Matthis Synofzik 2 collaborations

Thierry Maisonobe 2 collaborations

Michaela Auer-Grumbach 2 collaborations

Mohamed A Abdelhamed 2 collaborations

Sherifa A Hamed 2 collaborations

Ruxu Zhang 2 collaborations

Fiore Manganelli 2 collaborations

Lucio Santoro 2 collaborations

R Grace Zhai 2 collaborations

Valeria Prada 2 collaborations

Rebecca Meyer-Schuman 2 collaborations

Anthony Antonellis 2 collaborations

Cinzia Ferri 2 collaborations

Rosa Mastrangelo 2 collaborations

Thierry Touvier 2 collaborations

Francesca Bianchi 2 collaborations

Ubaldo Del Carro 2 collaborations

Maurizio D'Antonio 2 collaborations

Katherine M Call 1 collaboration

Ilaria Callegari 1 collaboration

C Gemelli 1 collaboration

A Geroldi 1 collaboration

F Veneri 1 collaboration

P Mandich 1 collaboration

M D'Antonio 1 collaboration

A Schenone 1 collaboration

V Prada 1 collaboration

M Grandis 1 collaboration

Delfina Larrea 1 collaboration

Marta Pera 1 collaboration

Adriano Gonnelli 1 collaboration

Rubén Quintana-Cabrera 1 collaboration

H Orhan Akman 1 collaboration

Cristina Guardia-Laguarta 1 collaboration

Kevin R Velasco 1 collaboration

Estela Area-Gomez 1 collaboration

Federica Dal Bello 1 collaboration

Diego De Stefani 1 collaboration

Eric A Schon 1 collaboration

Marta Giacomello 1 collaboration

A M Rossor 1 collaboration

Alexander Martin Rossor 1 collaboration

Mahima Kapoor 1 collaboration

Henny Wellington 1 collaboration

Emily Spaulding 1 collaboration

James N Sleigh 1 collaboration

Robert W Burgess 1 collaboration

Henrik Zetterberg 1 collaboration

Amanda Heslegrave 1 collaboration

Tiziana Cavallaro 1 collaboration

Matteo Tagliapietra 1 collaboration

Gian Maria Fabrizi 1 collaboration

Jean-Michel Vallat 1 collaboration

Marina Scarlato 1 collaboration

Raffaella Fazio 1 collaboration

Angelo Quattrini 1 collaboration

Stefano C Previtali 1 collaboration

Gage Kosmanopoulos 1 collaboration

Jack K Donohue 1 collaboration

Maya Hoke 1 collaboration

Simone Thomas 1 collaboration

Margo A Peyton 1 collaboration

Linh Vo 1 collaboration

Thomas O Crawford 1 collaboration

Manatsu Morikawa 1 collaboration

Nivedita U Jerath 1 collaboration

Tadayuki Ogawa 1 collaboration

Momo Morikawa 1 collaboration

Yosuke Tanaka 1 collaboration

Nobutaka Hirokawa 1 collaboration

Jacob Bockhorst 1 collaboration

Kaitlin Smith 1 collaboration

Guiseppe Piscosquito 1 collaboration

Christopher J Record 1 collaboration

Michael D Weiss 1 collaboration

Peggy Nopoulous 1 collaboration

Magdalena Dudzeic 1 collaboration

Tarek A Yousry 1 collaboration

Tim Estilow 1 collaboration

Kirsten M Anderson 1 collaboration

Jason M Wilken 1 collaboration

Harrison Pantera 1 collaboration

Marnee J McKay 1 collaboration

Jennifer N Baldwin 1 collaboration

Anna Ardissone 1 collaboration

Silvia Genitrini 1 collaboration

Ying Wang 1 collaboration

Eva Nyvltova 1 collaboration

Mark Garrett 1 collaboration

Sean E Smith 1 collaboration

Chengcheng Li 1 collaboration

Elizabeth Jacobs 1 collaboration

Marcondes C França 1 collaboration

Marcus V Gomes 1 collaboration

Diogo F Santos 1 collaboration

Surinder Kumar 1 collaboration

David B Lombard 1 collaboration

Siegfried Hekimi 1 collaboration

Antoni Barrientos 1 collaboration

Conrad Weihl 1 collaboration

Wilson Marques 1 collaboration

Alessia Feoli 1 collaboration

Fabio Bruschi 1 collaboration

Micheal E Shy 1 collaboration

Luke F O'Donnell 1 collaboration

Tina Banks 1 collaboration

Anna Sarkozy 1 collaboration

Adnan Manzur 1 collaboration

Christopher Clark 1 collaboration

Raghu Ramesh 1 collaboration

Daniel M Anderson 1 collaboration

Derek Pavelec 1 collaboration

Janel E Wilcox 1 collaboration

Antonietta Franco 1 collaboration

Joshua N Ho 1 collaboration

Cindy Ly 1 collaboration

Timothy M Miller 1 collaboration

Andrew S Yoo 1 collaboration

Amit Abraham 1 collaboration

Yael Eshed-Eisenbach 1 collaboration

Gal Shner 1 collaboration

Anna Vainshtein 1 collaboration

Vladimir Camarena 1 collaboration

Gabriel Gaidosh 1 collaboration

Ramin Shiekhattar 1 collaboration

Dennis K Burns 1 collaboration

Diana Castro 1 collaboration

Elior Peles 1 collaboration

Cristina Schenone 1 collaboration

Giulia Mennella 1 collaboration

Marina Grandis 1 collaboration

Angelo Schenone 1 collaboration

Florian P Thomas 1 collaboration

Thomas H Brannagan 1 collaboration

Russell J Butterfield 1 collaboration

Urvi Desai 1 collaboration

Ali A Habib 1 collaboration

Nicholas E Johnson-Cl 1 collaboration

Chafic Karam 1 collaboration

Colin Quinn 1 collaboration

Jeffrey M Statland 1 collaboration

Sub H Subramony 1 collaboration

Katherine Stevens-Favorite 1 collaboration

Barry Miller 1 collaboration

Ashley Leneus 1 collaboration

Marcie Fowler 1 collaboration

Marc van de Rijn 1 collaboration

Kenneth M Attie 1 collaboration

Natalya Pashkova 1 collaboration

Tabitha A Peterson 1 collaboration

Christopher P Ptak 1 collaboration

Stanley C Winistorfer 1 collaboration

Christopher A Ahern 1 collaboration

Robert C Piper 1 collaboration

Isaac R L Xu 1 collaboration

Jacquelyn Raposo 1 collaboration

Yeisha Arcia De Jesus 1 collaboration

Jonathan Baets 1 collaboration

Reza Seyedsadjadi 1 collaboration

Kristl G Claeys 1 collaboration

Pooja Patel 1 collaboration

Moshe Fridman 1 collaboration

Markqayne Ray 1 collaboration

Kavita Gandhi 1 collaboration

Morgan E Shy 1 collaboration

Arash Mostaghimi 1 collaboration

Tyler Rehbein 1 collaboration

Simona Treidler 1 collaboration

Richard Lewis 1 collaboration

Sheila Marte 1 collaboration

Tyler J Smith 1 collaboration

Marina Kennerson 1 collaboration

Garth Nicholson 1 collaboration

Mike E Shy 1 collaboration

Kristin S Koutmou 1 collaboration

Martin Kramer 1 collaboration

Katherine Call 1 collaboration

Steven Scherer 1 collaboration

Sheng Deng 1 collaboration

Yong Shi 1 collaboration

Hong Zhai 1 collaboration

Luna Zhan 1 collaboration

Teepu Siddique 1 collaboration

Han-Xiang Deng 1 collaboration

Diana C Lee 1 collaboration

Laura Perez 1 collaboration

Dragan Vujovic 1 collaboration

Nicholas E Johnson 1 collaboration

E L Spaulding 1 collaboration

T J Hines 1 collaboration

P Bais 1 collaboration

A L D Tadenev 1 collaboration

R Schneider 1 collaboration

D Jewett 1 collaboration

B Pattavina 1 collaboration

S L Pratt 1 collaboration

K H Morelli 1 collaboration

M G Stum 1 collaboration

D P Hill 1 collaboration

C Gobet 1 collaboration

M Pipis 1 collaboration

M J Jennings 1 collaboration

R Horvath 1 collaboration

Y Bai 1 collaboration

B Alvarez-Castelao 1 collaboration

E M Schuman 1 collaboration

L P Bogdanik 1 collaboration

E Storkebaum 1 collaboration

R W Burgess 1 collaboration

Debra S Regier 1 collaboration

Jennifer A Weaver 1 collaboration

Nancy Cheng 1 collaboration

Mark L Batshaw 1 collaboration

Mary Ottolini 1 collaboration

Marshall L Summar 1 collaboration

Caroline Treins 1 collaboration

Vera G Volpi 1 collaboration

Cristina Scapin 1 collaboration

Francesca Florio 1 collaboration

Frank F Baas 1 collaboration

David Wang 1 collaboration

Pierre Miniou 1 collaboration

Philippe Guedat 1 collaboration

Matthew Silsby 1 collaboration

Eva L Feldman 1 collaboration

Richard D Dortch 1 collaboration

Alison Roth 1 collaboration

Simon Haroutounian 1 collaboration

Yusuf A Rajabally 1 collaboration

Steve Vucic 1 collaboration

Anne Louise Oaklander 1 collaboration

Neil G Simon 1 collaboration

Kimberly Anderson 1 collaboration

Francesca A Veneri 1 collaboration

Anke Claessens 1 collaboration

Noémie Sorgiati 1 collaboration

Serena Valenzano 1 collaboration

Cristina Rivellini 1 collaboration

Phu Duong 1 collaboration

Jeffery W Kelly 1 collaboration

R Luke Wiseman 1 collaboration

T Rehbein 1 collaboration

J Purks 1 collaboration

N Dilek 1 collaboration

S Behrens-Spraggins 1 collaboration

J E Sowden 1 collaboration

K J Eichinger 1 collaboration

J Burns 1 collaboration

S S Scherer 1 collaboration

M P McDermott 1 collaboration

C R Heatwole 1 collaboration

D N Herrmann 1 collaboration

Kimberly Dooley 1 collaboration

Sarrah A Knause 1 collaboration