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M. Shy · SciRah

Researcher profile · Semantic Scholar

M. Shy

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M. Shy — researcher profile on SciRah

h-index: 67
Works: 300
Citations: 14K

Most-cited papers

BIALLELIC MUTATIONS IN SORD CAUSE A COMMON AND POTENTIALLY TREATABLE HEREDITARY NEUROPATHY WITH IMPLICATIONS FOR DIABETES
A. Cortese, Yi Zhu, A. Rebelo, S. Negri +91 more
2020Nature Genetics149 citations Open access
Semantic Scholar
Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia
M. Minnerop, D. Kurzwelly, H. Wagner, A. Soehn +52 more
2017Brain : a journal of neurology105 citations Open access
Semantic Scholar
Phenotypic variability of childhood Charcot-Marie-Tooth disease
Kayla M. D. Cornett, M. Menezes, P. Bray, M. Halaki +17 more
2016JAMA Neurology102 citations Open access
Semantic Scholar
Phase 2 Trial of Rituximab in Acetylcholine Receptor Antibody-Positive Generalized Myasthenia Gravis: The BeatMG Study.
R. Nowak, C. Coffey, J. Goldstein, M. Dimachkie +25 more
2021Neurology101 citations Open access
Semantic Scholar
Targeted next-generation sequencing panels in the diagnosis of Charcot-Marie-Tooth disease
A. Cortese, J. Wilcox, J. Polke, R. Poh +7 more
2019Neurology89 citations Open access
Semantic Scholar
Hereditary motor and sensory neuropathies: Understanding molecular pathogenesis could lead to future treatment strategies.
N. Jerath, M. Shy
2015Biochimica et Biophysica Acta89 citations Open access
Semantic Scholar
Prevalence and orthopedic management of foot and ankle deformities in Charcot–Marie–Tooth disease
M. Laurá, Dishan B. Singh, G. Ramdharry, J. Morrow +18 more
2017Muscle and Nerve75 citations Open access
Semantic Scholar
Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study
M. Pipis, S. Feely, J. Polke, M. Skorupinska +56 more
2020Brain : a journal of neurology69 citations Open access
Semantic Scholar
Peripheral neuropathy in complex inherited diseases: an approach to diagnosis
A. Rossor, A. Carr, H. Devine, H. Chandrashekar +5 more
2017Journal of Neurology Neurosurgery & Psychiatry69 citations Open access
Semantic Scholar
Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1
Alleene V. Strickland, Maria Schabhüttl, H. Offenbacher, M. Synofzik +16 more
2015Journal of Neurology68 citations Open access
Semantic Scholar
SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiency
A. Rebelo, D. Saade, C. Pereira, A. Farooq +9 more
2018Brain : a journal of neurology56 citations Open access
Semantic Scholar
Burst mitofusin activation reverses neuromuscular dysfunction in murine CMT2A
A. Franco, Xia-Wei Dang, Emily K. Walton, Joshua N. Ho +7 more
2020eLife54 citations Open access
Semantic Scholar
Validation of MRC Centre MRI calf muscle fat fraction protocol as an outcome measure in CMT1A
J. Morrow, M. Evans, T. Grider, C. Sinclair +8 more
2018Neurology54 citations Open access
Semantic Scholar
Myelin protein zero mutations and the unfolded protein response in Charcot Marie Tooth disease type 1B
Yunhong Bai, Xing-Yao Wu, K. Brennan, David S. Wang +4 more
2018Annals of Clinical and Translational Neurology50 citations Open access
Semantic Scholar
Functional Magnetic Resonance Imaging with Concurrent Urodynamic Testing Identifies Brain Structures Involved in Micturition Cycle in Patients with Multiple Sclerosis
R. Khavari, C. Karmonik, M. Shy, Sophie G. Fletcher +1 more
2016Journal of Urology49 citations Open access
Semantic Scholar
A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores.
V. Fridman, Stefan H. Sillau, G. Acsadi, C. Bacon +33 more
2020Neurology46 citations Open access
Semantic Scholar
Novel mutations in dystonin provide clues to the pathomechanisms of HSAN-VI
F. Manganelli, S. Parisi, M. Nolano, F. Tao +11 more
2017Neurology43 citations Open access
Semantic Scholar
Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1)
Francis B Panosyan, M. Laurá, A. Rossor, C. Pisciotta +12 more
2017Neurology42 citations Open access
Semantic Scholar
Satisfaction with ankle foot orthoses in individuals with Charcot-Marie-Tooth disease
Riccardo Zuccarino, Kirsten M. Anderson, M. Shy, J. Wilken
2020Muscle and Nerve41 citations Open access
Semantic Scholar
Transmembrane protease serine 5: a novel Schwann cell plasma marker for CMT1A
Hong-Ge Wang, M. Davison, Kathryn Wang, Tai-He Xia +15 more
2019Annals of Clinical and Translational Neurology39 citations Open access
Semantic Scholar
Genetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease
A. Horga, M. Laurá, Z. Jaunmuktane, N. Jerath +15 more
2017Journal of Neurology Neurosurgery & Psychiatry37 citations Open access
Semantic Scholar
Myelin Abnormality in CMT4J Recapitulates Features of Acquired Demyelination
B. Hu, Megan Mccollum, Vignesh Ravi, S. Arpag +12 more
2018Annals of Neurology36 citations Open access
Semantic Scholar
Mutations in BAG3 Cause Adult Onset Charcot-Marie-Tooth Disease
M. Shy, A. Rebelo, S. Feely, Lisa Abreu +4 more
2017Journal of Neurology Neurosurgery & Psychiatry35 citations Open access
Semantic Scholar
A multicentre retrospective study of Charcot-Marie-Tooth disease type 4B (CMT4B) due to mutations in Myotubularin-related proteins (MTMRs)
D. Pareyson, T. Stojkovic, M. Reilly, S. Léonard-Louis +38 more
2019Annals of Neurology34 citations Open access
Semantic Scholar
Schwann Cell Transcript Biomarkers for Hereditary Neuropathy Skin Biopsies
John Svaren, John J. Moran, Xing-Yao Wu, Riccardo Zuccarino +7 more
2019Annals of Neurology34 citations Open access
Semantic Scholar
Treatment with IFB-088 Improves Neuropathy in CMT1A and CMT1B Mice
Yunhong Bai, Caroline Treins, Vera G. Volpi, C. Scapin +12 more
2021Molecular Neurobiology33 citations Open access
Semantic Scholar
Regulating PMP22 Expression as a Dosage Sensitive Neuropathy Gene
H. Pantera, M. Shy, John Svaren
2019Brain Research33 citations Open access
Semantic Scholar
Small nerve fiber involvement in CMT1A
M. Nolano, F. Manganelli, V. Provitera, C. Pisciotta +5 more
2015Neurology33 citations Open access
Semantic Scholar
The Charcot-Marie-Tooth Functional Outcome Measure (CMT-FOM)
K. Eichinger, J. Burns, Kayla M. D. Cornett, C. Bacon +6 more
2018Neurology32 citations Open access
Semantic Scholar
Trials for Slowly Progressive Neurogenetic Diseases Need Surrogate Endpoints
M. Reilly, D. Herrmann, D. Pareyson, S. Scherer +4 more
2023Annals of Neurology28 citations Open access
Semantic Scholar
Development and validation of the Charcot-Marie-Tooth Disease Infant Scale
Melissa R. Mandarakas, M. Menezes, K. Rose, R. Shy +20 more
2018Brain : a journal of neurology28 citations Open access
Semantic Scholar
Biomarkers predict outcome in Charcot Marie Tooth Disease 1A
R. Fledrich, M. Mannil, Andreas Leha, Caroline Ehbrecht +25 more
2017Journal of Neurology Neurosurgery & Psychiatry27 citations Open access
Semantic Scholar
Clinical practice guideline for the management of paediatric Charcot-Marie-Tooth disease
E. Yiu, P. Bray, J. Baets, S. Baker +18 more
2022Journal of Neurology Neurosurgery & Psychiatry26 citations
Semantic Scholar
Reduced neurofilament expression in cutaneous nerve fibers of patients with CMT2E
C. Pisciotta, Yunhong Bai, K. Brennan, Xing-Yao Wu +8 more
2015Neurology26 citations Open access
Semantic Scholar
Refining clinical trial inclusion criteria to optimize the standardized response mean of the CMTPedS
Kayla M. D. Cornett, M. Menezes, P. Bray, R. Shy +14 more
2020Annals of Clinical and Translational Neurology24 citations Open access
Semantic Scholar
Assessing non-Mendelian Inheritance in Inherited Axonopathies
Dana M. Bis-Brewer, Z. Gan-or, P. Sleiman, Aixa Rodriguez +62 more
2020Genetics in Medicine24 citations Open access
Semantic Scholar
A nonsense mutation in myelin protein zero causes congenital hypomyelination neuropathy through altered P0 membrane targeting and gain of abnormal function
P. Fratta, F. Ornaghi, G. Dati, D. Zambroni +7 more
2018bioRxiv22 citations Open access
Semantic Scholar
The audiologic profile of patients with Charcot-Marie Tooth neuropathy can be characterised by both cochlear and neural deficits
N. Giuliani, L. Holte, M. Shy, T. Grider
2019International Journal of Audiology21 citations
Semantic Scholar
Neuropathy due to bi-allelic SH3TC2 variants: Genotype-phenotype correlation and natural history.
T. Rehbein, Tong-Tong Wu, Simona Treidler, D. Pareyson +12 more
2023Brain : a journal of neurology20 citations
Semantic Scholar
Disease Progression in CMT related to MPZ Mutations: A Longitudinal Study
V. Fridman, Stefan H. Sillau, Jacob Bockhorst, Kaitlin E. Smith +26 more
2022Annals of Neurology19 citations Open access
Semantic Scholar
Rydel-Seiffer fork revisited: Beyond a simple case of black and white
Francis B Panosyan, Joan Mountain, M. Reilly, M. Shy +1 more
2016Neurology18 citations Open access
Semantic Scholar
Mitochondrial Phenotypes in Genetically Diverse Neurodegenerative Diseases and Their Response to Mitofusin Activation
Xia-Wei Dang, Emily Walton, B. Zabłocka, R. Baloh +2 more
2022Cells17 citations Open access
Semantic Scholar
A neuropathy‐associated kinesin KIF1A mutation hyper‐stabilizes the motor‐neck interaction during the ATPase cycle
M. Morikawa, N. Jerath, Tadayuki Ogawa, Momo Morikawa +4 more
2022EMBO Journal17 citations Open access
Semantic Scholar
A CADM3 variant causes Charcot-Marie-Tooth disease with marked upper limb involvement.
A. Rebelo, A. Cortese, A. Abraham, Yael Eshed-Eisenbach +17 more
2021Brain : a journal of neurology17 citations Open access
Semantic Scholar
MicroRNAs as Biomarkers of Charcot-Marie-Tooth Disease Type 1A
Hong-Ge Wang, M. Davison, Kathryn Wang, Tai-He Xia +13 more
2021Neurology17 citations Open access
Semantic Scholar
Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association Study
F. Tao, G. Beecham, A. Rebelo, S. Blanton +24 more
2019Journal of Neuromuscular Diseases17 citations Open access
Semantic Scholar
Carpal Tunnel Syndrome in Inherited Neuropathies: A Retrospective Survey
Francis B Panosyan, C. Kirk, Devon Marking, M. Reilly +3 more
2017Muscle and Nerve17 citations Open access
Semantic Scholar
Development and Validation of the Pediatric Charcot–Marie–Tooth Disease Quality of Life Outcome Measure
S. Ramchandren, Tong-Tong Wu, R. Finkel, C. Siskind +5 more
2020Annals of Neurology16 citations Open access
Semantic Scholar
ADVANCES IN DIAGNOSIS AND MANAGEMENT OF DISTAL SENSORY POLYNEUROPATHIES
M. Silsby, E. Feldman, Richard D. Dortch, Alison R Roth +6 more
2023Journal of Neurology Neurosurgery & Psychiatry14 citations Open access
Semantic Scholar
Accelerate Clinical Trials in Charcot-Marie-Tooth Disease (ACT-CMT): A Protocol to Address Clinical Trial Readiness in CMT1A
K. Eichinger, J. Sowden, J. Burns, M. McDermott +7 more
2022Frontiers in Neurology12 citations Open access
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