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Mutations in NPC1 in two Brazilian patients with Niemann‐Pick disease type C and progressive supranuclear palsy‐like presentation
Author(s) -
GodeiroJúnior Clécio,
Jun Inaoka Riguel,
Rocha Barbosa Marcelo,
Regis Silva Maria Regina,
de Carvalho Aguiar Patrícia,
Barsottini Orlando
Publication year - 2006
Publication title -
movement disorders
Language(s) - Portuguese
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.21146
Subject(s) - medicine , progressive supranuclear palsy , neurology , hemotherapy , presentation (obstetrics) , gerontology , pediatrics , family medicine , humanities , psychiatry , disease , philosophy , surgery
Universidade Federal de São Paulo, Dept Neurol, São Paulo, BrazilUniversidade Federal de São Paulo, Dept Hematol & Hemotherapy, São Paulo, BrazilUniversidade Federal de São Paulo, Dept Pathol, São Paulo, BrazilInst Israelita Ensino & Pequisa Albert Einstein, São Paulo, BrazilUniversidade Federal de São Paulo, Dept Neurol, São Paulo, BrazilUniversidade Federal de São Paulo, Dept Hematol & Hemotherapy, São Paulo, BrazilUniversidade Federal de São Paulo, Dept Pathol, São Paulo, BrazilWeb of Scienc