Michael Shy

31PUBLICATIONS
114CO-AUTHORS
Gene and molecular therapyMetabolic medicineClinical nutritionPsychosocial aspects of childbirth and perinatal mental healthCraniofacial biology
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Publications (31)

|Aug 05, 2026
Clinical Development of Therapies for Charcot-Marie-Tooth Disease: Recommendations for Trial Design, Endpoints, and Regulatory Pathways.

|Jul 23, 2026
Biallelic SCO2 Variants Presenting as Motor-Predominant Axonal Neuropathy With Complex IV Deficiency.

|Nov 12, 2025
Urine Sorbitol and Xylitol for the Diagnosis of Sorbitol Dehydrogenase Deficiency-Related Neuropathy.

Jordan Elliott Bontrager, Amy L White, Karlla W Brigatti

|May 20, 2025
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

|May 09, 2025
Charcot-Marie-Tooth disease type 1E: Clinical Natural History and Molecular Impact of PMP22 Variants.

Kailee S Ward, Christopher P Ptak, Natalya Pashkova

|Feb 25, 2025
The Spastic Paraplegia-Centers of Excellence Research Network (SP-CERN): Clinical Trial Readiness for Hereditary Spastic Paraplegia.

Luca Schierbaum, Vicente Quiroz, Kathryn Yang

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Frequent Collaborators

10 joint publications

Davide Pareyson

4 joint publications

Alexander Martin Rossor

4 joint publications

Sindhu Ramchandren

4 joint publications

Joshua Burns