Mario A. Saporta

Mario A. Saporta

Neurology | Neuromusculoskeletal Medicine

1150 Northwest 14th Street
Miami, FL 33136

Last Updated: 09/26/2026

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Found 52 publications

Establishment and characterization of three human pluripotent stem cell lines from patients with spinocerebellar ataxia 27B (SCA27B).

Establishment and characterization of three human pluripotent stem cell lines from patients with spinocerebellar ataxia 27B (SCA27B).

Journal: Stem cell research

Published: May 12, 2026

Spinal Spheroids as Screening Platform for Peripheral Neuropathies.

Spinal Spheroids as Screening Platform for Peripheral Neuropathies.

Journal: Methods in molecular biology (Clifton, N.J.)

Published: January 01, 2026

Establishment and characterization of three human pluripotent stem cell lines from Charcot-Marie-Tooth disease Type 4B3 patients bearing mutations in MTMR5/Sbf1 gene.

Establishment and characterization of three human pluripotent stem cell lines from Charcot-Marie-Tooth disease Type 4B3 patients bearing mutations in MTMR5/Sbf1 gene.

Journal: Stem cell research

Published: August 22, 2024

Somatic instability of the FGF14 -SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellum.

Somatic instability of the FGF14 -SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellum.

Journal: medRxiv : the preprint server for health sciences

Published: July 15, 2024

Somatic instability of the FGF14-SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellum.

Somatic instability of the FGF14-SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellum.

Journal: Brain : a journal of neurology

Published: July 01, 2024

Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD.

Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD.

Journal: Brain : a journal of neurology

Published: June 08, 2024

The GENESIS database and tools: A decade of discovery in Mendelian genomics.

The GENESIS database and tools: A decade of discovery in Mendelian genomics.

Journal: Experimental neurology

Published: May 25, 2024

Customized antisense oligonucleotide-based therapy for neurofilament-associated Charcot-Marie-Tooth disease.

Customized antisense oligonucleotide-based therapy for neurofilament-associated Charcot-Marie-Tooth disease.

Journal: Brain : a journal of neurology

Published: February 22, 2024

Generation of 3 patient induced Pluripotent stem cell lines containing SORD mutations linked to a recessive neuropathy.

Generation of 3 patient induced Pluripotent stem cell lines containing SORD mutations linked to a recessive neuropathy.

Journal: Stem cell research

Published: February 01, 2024

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

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

Journal: Journal of the peripheral nervous system : JPNS

Published: January 24, 2024

A recurrent missense variant in ITPR3 causes demyelinating Charcot-Marie-Tooth with variable severity.

A recurrent missense variant in ITPR3 causes demyelinating Charcot-Marie-Tooth with variable severity.

Journal: Brain : a journal of neurology

Published: December 21, 2023

Sord deficient rats develop a motor-predominant peripheral neuropathy unveiling novel pathophysiological insights.

Sord deficient rats develop a motor-predominant peripheral neuropathy unveiling novel pathophysiological insights.

Journal: bioRxiv : the preprint server for biology

Published: December 18, 2023

Showing 1-12 of 52

Last Updated: 09/26/2026