Mutations in NPC1 in two Brazilian patients with Niemann-Pick disease type C and progressive supranuclear palsy-like presentation.

Godeiro-Júnior, Clécio; Inaoka, Riguel Jun; Barbosa, Marcelo Rocha; Silva, Maria Regina Regis; Aguiar, Patrícia de Carvalho; Barsottini, Orlando

Godeiro-Júnior, Clécio; Inaoka, Riguel Jun; Barbosa, Marcelo Rocha; Silva, Maria Regina Regis; Aguiar, Patrícia de Carvalho; Barsottini, Orlando.

Mov Disord ; 21(12): 2270-2, 2006 Dec.

Article in En | MEDLINE | ID: mdl-17044092

Subject(s)

Carrier Proteins/genetics; Membrane Glycoproteins/genetics; Mutation; Niemann-Pick Disease, Type C/genetics; Supranuclear Palsy, Progressive/genetics; Adolescent; Adult; Bone Marrow/pathology; Brazil; Female; Humans; Intracellular Signaling Peptides and Proteins; Niemann-Pick C1 Protein; Niemann-Pick Disease, Type C/complications; Niemann-Pick Disease, Type C/pathology; Supranuclear Palsy, Progressive/complications; Supranuclear Palsy, Progressive/pathology

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Collection: 01-internacional Database: MEDLINE Main subject: Supranuclear Palsy, Progressive / Membrane Glycoproteins / Carrier Proteins / Niemann-Pick Disease, Type C / Mutation Limits: Adolescent / Adult / Female / Humans Country/Region as subject: America do sul / Brasil Language: En Journal: Mov Disord Journal subject: NEUROLOGIA Year: 2006 Document type: Article Country of publication: United States

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