Publications by authors named "Michael Shy"

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Spectrum of dominant Charcot-Marie-Tooth disease due to variants.
Christopher J Record, Tiffany Grider, Adriana P Rebelo, Christian Laurini, Mariola Skorupinska, Michael E Shy

J Neurol Neurosurg Psychiatry· January 2026

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Urine Sorbitol and Xylitol for the Diagnosis of Sorbitol Dehydrogenase Deficiency-Related Neuropathy.
Jordan Elliott Bontrager, Amy L White, Karlla W Brigatti, William Laxen, Perry R Loken, Michael E Shy

Neurology· December 2025

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Validation and Reliability of the Thai Pediatric Charcot-Marie-Tooth Quality of Life Outcome Measure.
Pimchanok Kulsirichawaroj, Arisa Phochaisarn, Sivaporn Limpaninlachat, Nutchavadee Vorasan, Surachai Likasitwattanakul, Michael E Shy

J Peripher Nerv Syst· December 2025

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Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD.
Andrea Cortese, Maike F Dohrn, Riccardo Curro, Sara Negri, Petra Lassuthova, Michael E Shy

Brain· October 2025

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Comprehensive genotype-phenotype analysis in POLR3-related disorders.
Mackenzie A Michell-Robinson, Stefanie Perrier, Samuel Gauthier, Alexa Derksen, Quentin Sabbagh, Michael E Shy

HGG Adv· October 2025

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Perception of ankle foot orthoses by individuals with Charcot-Marie-Tooth disease.
Kirsten M Anderson, Riccardo Zuccarino, Sara M Magdziarz, Michael E Shy, Jason M Wilken

Prosthet Orthot Int· October 2025

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Gene-Pseudogene Inversions as a Hidden Source of Missing Heritability.
Ilaria Quartesan, Stefano Facchini, Arianna Manini, Ricardo Parolin Schnekenberg, Chiara Pisciotta, Michael E Shy

medRxiv· October 2025

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Updated demographics categories to capture the true diversity of an international registry of rare disease patients.
Nicole Kressin, Michael E Shy, Tara Jones, Nidia Villalpando, Gita Ramdharry

Ther Adv Rare Dis· July 2025

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Activation of XBP1s attenuates disease severity in models of proteotoxic Charcot-Marie-Tooth type 1B.
Thierry Touvier, Francesca A Veneri, Anke Claessens, Cinzia Ferri, Rosa Mastrangelo, Michael E Shy

Brain· June 2025

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Heterozygous loss-of-function variants in SPTAN1 cause an early childhood onset distal myopathy.
Jonathan De Winter, Liedewei Van de Vondel, Biljana Ermanoska, Alice Monticelli, Arnaud Isapof, Michael E Shy

Genet Med· June 2025

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Feasibility, Validity, and Reliability of the Virtual CMT Infant Toddler Scale (vCMTInfS): A Remote Evaluation of Infants/Toddlers With CMT.
Rosemary Shy, Amanda Dragon, Shawna M E Feely, Gabrielle Donlevy, Kayla Cornett, Michael E Shy

J Peripher Nerv Syst· June 2025

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Charcot-Marie-Tooth disease type 1E: clinical natural history and molecular impact of PMP22 variants.
Kailee S Ward, Christopher P Ptak, Natalya Pashkova, Tiffany Grider, Tabitha A Peterson, Michael E Shy

Brain· June 2025

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Charcot-Marie-Tooth disease type 1E: Clinical Natural History and Molecular Impact of Variants.
Kailee S Ward, Christopher P Ptak, Natalya Pashkova, Tiffany Grider, Tabitha A Peterson, Michael E Shy

medRxiv· May 2025

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Generation of two induced pluripotent stem cell lines from Charcot-Marie-Tooth type 1B patients harboring autosomal dominant mutations in myelin protein zero gene.
Jingting Zhu, Gongbo Guo, Fatemeh Mehryab, Mary Kate McCulloch, Wilson Marques Junior, Michael E Shy

Stem Cell Res· April 2025

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The Spastic Paraplegia-Centers of Excellence Research Network (SP-CERN): Clinical Trial Readiness for Hereditary Spastic Paraplegia.
Luca Schierbaum, Vicente Quiroz, Kathryn Yang, Joshua Rong, Nicole Battaglia, Michael E Shy

Neurol Genet· April 2025

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Balance Confidence and Falls in Individuals With Charcot-Marie-Tooth Disease: A Cross-Sectional Observational Study.
Kirsten M Anderson, Bopha Chrea, Riccardo Zuccarino, Michael E Shy, Jason M Wilken

Health Sci Rep· April 2025

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Combined clinical, structural and cellular studies discriminate pathogenic and benign TRPV4 variants.
Sarah H Berth, Linh Vo, Do Hoon Kwon, Tiffany Grider, Yasmine S Damayanti, Michael E Shy

Brain· February 2025

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Disease Progression in Charcot-Marie-Tooth Disease Type 4B (CMT4B) Associated With Mutations in Myotubularin-Related Proteins 2 and 13.
Alessandro Bertini, Mary M Reilly, Chiara Pisciotta, Stefano C Previtali, Yesim Parman, Michael E Shy

Eur J Neurol· February 2025

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TRPV4 neuromuscular disease registry highlights bulbar, skeletal and proximal limb manifestations.
Gage P Kosmanopoulos, Jack K Donohue, Maya Hoke, Simone Thomas, Margo A Peyton, Michael E Shy

Brain· January 2025

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A recurrent missense variant in ITPR3 causes demyelinating Charcot-Marie-Tooth with variable severity.
Danique Beijer, Maike F Dohrn, Adriana Rebelo, Matt C Danzi, Bianca Rose Grosz, Michael E Shy

Brain· January 2025

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Disrupting the transmembrane domain interface between PMP22 and MPZ causes peripheral neuropathy.
Natalya Pashkova, Tabitha A Peterson, Christopher P Ptak, Stanley C Winistorfer, Debbie Guerrero-Given, Michael E Shy

iScience· November 2024

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Clinical Characteristics of Charcot-Marie-Tooth Disease Type 4J.
Reza Sadjadi, Vincent Picher-Martel, Jasper M Morrow, Daniel Thedens, Paul A DiCamillo, Michael E Shy

Neurology· September 2024

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Heterozygous loss-of-function variants in SPTAN1 cause a novel early childhood onset distal myopathy with chronic neurogenic features.
Jonathan De Winter, Liedewei Van de Vondel, Biljana Ermanoska, Alice Monticelli, Arnaud Isapof, Michael E Shy

medRxiv· September 2024

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Generation of 3 patient induced Pluripotent stem cell lines containing SORD mutations linked to a recessive neuropathy.
Christopher Yanick, Renata Maciel, Elizabeth Jacobs, Jacquelyn Schatzman, Michael Shy

Stem Cell Res· August 2024

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Quantitative Foot Muscle Magnetic Resonance Imaging Reliably Measures Disease Progression in Children and Adolescents with Charcot-Marie-Tooth Disease Type 1A.
Carolynne M Doherty, Paige Howard, Luke F O'Donnell, Riccardo Zuccarino, Stephen Wastling, Rosemary R Shy, Michael E Shy

Ann Neurol· July 2024

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