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Are interrupted SCA2 CAG repeat expansions responsible for parkinsonism?

Archive ouverte | Charles, P. | CCSD

BACKGROUND: Autosomal dominant parkinsonism (ADP) is caused in a large percentage of familial and sporadic cases by mutations in the LRRK2 gene, particularly G2019S. It is also caused by mutations in genes associated with autosoma...

Muscle coenzyme Q10 deficiencies in ataxia with oculomotor apraxia 1.

Archive ouverte | Le Ber, I. | CCSD

International audience. APTX gene mutations responsible for ataxia-oculomotor apraxia 1 (AOA1) were identified in a family previously reported with ataxia and coenzyme Q10 (CoQ10) deficiency. We measured muscle CoQ1...

The genetic landscape of Parkinson's disease

Archive ouverte | Lunati, A. | CCSD

International audience. The cause of Parkinson's disease (PD) remains unknown in most patients. Since 1997, with the first genetic mutation known to cause PD described in SNCA gene, many other genes with Mendelian i...

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