Mario Saporta

3PUBLICATIONS
17CO-AUTHORS
Gene mappingNeurology and neuromuscular diseases
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Publications (3)

|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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