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

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.

doi:10.1212/WNL.0b013e3182611232

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

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Serval ID

serval:BIB_F6406A2AFA79

Type

Article: article from journal or magazin.

Publication sub-type

Case report (case report): feedback on an observation with a short commentary.

Collection

Publications

Institution

UNIL/CHUV

Title

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

Journal

Neurology

Author(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.

ISSN

1526-632X (Electronic)

ISSN-L

0028-3878

Publication state

Published

Issued date

07/2012

Peer-reviewed

Oui

Volume

79

Number

4

Pages

391

Language

english

Notes

Publication types: Case Reports ; Journal Article

Keywords

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

OAI-PMH

oai:serval.unil.ch:BIB_F6406A2AFA79

DOI

10.1212/WNL.0b013e3182611232

Pubmed

22826544

Web of science

000306690100024

Open Access

Yes

Create date

05/03/2015 12:15