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Mario Saporta

Director, CMT, MDA and Neurogenetics Clinics · Jackson Memorial Hospital

Credentials: · · · · ·

History

Charcot-Marie-Tooth Center of Excellence · University of Miami/Jackson Health System
Present
Jackson Memorial Hospital
Present
University of Miami/Jackson Health System
Present

Neurology
2001–2005
Doctor of Medicine
1997–2001

Research

Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia
New England Journal of Medicine · 2023 · 217 citations
Axonal Charcot-Marie-Tooth disease patient-derived motor neurons demonstrate disease-specific phenotypes including abnormal electrophysiological properties
Experimental Neurology · 2015 · First of 9 authors · Corresponding · 113 citations
Inherited peripheral neuropathies
Case report · Neurologic Clinics · 2013 · First of 2 authors · Corresponding · 93 citations

Michael Shy
19 papers
Steven Scherer
11 papers
David Herrmann
8 papers
Jun Li
8 papers
Shawna Feely
8 papers
John Day
5 papers
Thomas Lloyd
5 papers
RL
Richard Lewis
4 papers
Vera Fridman
4 papers
Charlotte Sumner
3 papers
David Walk
3 papers
Gyula Acsadi
3 papers

Clinical trials

Phase III Trial Assessing the Efficacy and Safety of PXT3003 in CMT1A Patients
Principal investigator · Unknown · Phase 3
Pharnext S.C.A.
2021–2024
Registry Study to Observe Long-term Safety of Vamorolone (AGAMREE®) in Patients With Duchenne Muscular Dystrophy-SUMMIT
Site PI · Recruiting
Catalyst Pharmaceuticals, Inc.
2024–2032
Genetics of Charcot Marie Tooth (CMT) - Modifiers of CMT1A, New Causes of CMT2
Site PI · Recruiting
University of Iowa
2010–2026
Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Types CMT1B, CMT2A, CMT4A, CMT4C, and Others
Site PI · Recruiting
Michael Shy
2010–2026