Massive and exclusive pontocerebellar damage in mitochondrial disease and NUBPL mutations.

Autoria(s): Tenisch E.V.; Lebre A.S.; Grévent D.; de Lonlay P.; Rio M.; Zilbovicius M.; Funalot B.; Desguerre I.; Brunelle F.; Rötig A.; Munnich A.; Boddaert N.
Data(s)

01/07/2012
Identificador

https://serval.unil.ch/?id=serval:BIB_F6406A2AFA79

isbn:1526-632X (Electronic)

doi:10.1212/WNL.0b013e3182611232

pmid:22826544

isiid:000306690100024
Idioma(s)

en
Fonte

Neurology, vol. 79, no. 4, pp. 391
Palavras-Chave #Cerebellum/pathology; Cerebellum/radionuclide imaging; Humans; Male; Mitochondrial Diseases/genetics; Mitochondrial Diseases/pathology; Mitochondrial Proteins/genetics; Mutation; Olivopontocerebellar Atrophies/genetics; Olivopontocerebellar Atrophies/pathology; Pons/pathology; Pons/radionuclide imaging; Young Adult
Tipo

info:eu-repo/semantics/article

article
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