Victor S. Souza
Sao Paulo, SP, Brazil
Last Updated: 09/26/2026
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Found 10 publications
A healthcare claims analysis to identify and characterize patients with suspected X-Linked Myotubular Myopathy (XLMTM) in the Brazilian Healthcare System.
Journal: Orphanet journal of rare diseases
Published: June 20, 2023
Brazilian registry of patients with porphyria: REBRAPPO study.
Journal: Orphanet journal of rare diseases
Published: August 21, 2022
Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study.
Journal: Journal of neurology, neurosurgery, and psychiatry
Published: February 01, 2022
GBE1-related disorders: Adult polyglucosan body disease and its neuromuscular phenotypes.
Journal: Journal of inherited metabolic disease
Published: August 09, 2020
Immune-mediated inflammatory polyneuropathy overlapping Charcot-Marie-Tooth 1B.
Journal: Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia
Published: January 05, 2020
Clinical and molecular findings in a cohort of ANO5-related myopathy.
Journal: Annals of clinical and translational neurology
Published: March 11, 2019
Motor unit number index (MUNIX) in myopathic disorders: Clinical correlations and potential pitfalls.
Journal: Neurophysiologie clinique = Clinical neurophysiology
Published: March 03, 2019
Leukodystrophy with disorders of sex development due to WT1 mutations.
Journal: Journal of the neurological sciences
Published: March 10, 2018
Early-onset axonal Charcot-Marie-Tooth disease due to SACS mutation.
Journal: Neuromuscular disorders : NMD
Published: August 11, 2017
Showing 1-10 of 10
Last Updated: 09/26/2026