Encontrados 27 documentos, a visualizar página 1 de 3
GDAP1 mutations are frequent among Brazilian patients with autosomal recessive ...
Marques Júnior, Wilson
Acute inflammatory painful polyradiculoneuritis: an uncommon presentation relat...
Marques Júnior, Wilson
Long-term safety and efficacy of patisiran for hereditary transthyretin-mediate...
Adams, David; Polydefkis, Michael; González-Duarte, Alejandra; Wixner, Jonas; Kristen, Arnt V.; Schmidt, Hartmut H.; Berk, John L.Background: Hereditary transthyretin-mediated amyloidosis is a rare, inherited, progressive disease caused by mutations in the transthyretin (TTR) gene. We assessed the safety and efficacy of long-term treatment with patisiran, an RNA interference therapeutic that inhibits TTR production, in patients with hereditary transthyretin-mediated amyloidosis with polyneuropathy. Methods: This multicentre, open-label ex...
The frequency of the C9orf72 expansion in a Brazilian population
Marques Júnior, Wilson
Muscoloskeletal disease in MDA5-related type I interferonopathy: a mendelian mi...
Marques Júnior, Wilson
A patient with ataxia with oculomotor apraxia type 1 and slow conduction veloci...
Marques Júnior, Wilson
Pure neural leprosy mimiking brachial and Lumbosacral plexopathy
Marques Júnior, Wilson
Identification of five novel mutations in brazilian families with X-linked CMT
Marques Júnior, Wilson
Screening of HINT1 mutations associated with recessive axonal neuropathy in a b...
Marques Júnior, Wilson
EMG patterns in familial amyloidotic polineuropathy (FAP) due to TTR mutations
Marques Júnior, Wilson