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Mario Saporta

3PUBLICATIONS

17CO-AUTHORS

Gene mappingNeurology and neuromuscular diseases

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Publications (3)

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|Feb 04, 2024

Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy.

Sandra Donkervoort, Payam Mohassel, Melanie O'Leary

|Feb 13, 2020

A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores.

Vera Fridman, Stefan Sillau, Gyula Acsadi

|Nov 13, 2019

Human Tridimensional Neuronal Cultures for Phenotypic Drug Screening in Inherited Peripheral Neuropathies.

Renata Maciel, Renata Correa, Juliana Bosso Taniguchi

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Frequent Collaborators

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David A Dyment

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Sander Pajusalu

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Carsten G Bönnemann

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Vera Fridman

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Stefan Sillau

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Gyula Acsadi

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Shawna Feely

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Richard S Finkel

Frequent Collaborators

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Sandra Donkervoort

1 joint publications

David A Dyment

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Sander Pajusalu

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A Reghan Foley

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