REEP1 mutations in SPG31: Frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction-Reference-Cited by-同舟云学术

REEP1 mutations in SPG31: Frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction

Published:2011-09-09 Issue:10 Volume:32 Page:1118-1127
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Goizet Cyril,Depienne Christel,Benard Giovanni,Boukhris Amir,Mundwiller Emeline,Solé Guilhem,Coupry Isabelle,Pilliod Julie,Martin-Négrier Marie-Laure,Fedirko Estelle,Forlani Sylvie,Cazeneuve Cécile,Hannequin Didier,Charles Perrine,Feki Imed,Pinel Jean-François,Ouvrard-Hernandez Anne-Marie,Lyonnet Stanislas,Ollagnon-Roman Elisabeth,Yaouanq Jacqueline,Toutain Annick,Dussert Christelle,Fontaine Bertrand,Leguern Eric,Lacombe Didier,Durr Alexandra,Rossignol Rodrigue,Brice Alexis,Stevanin Giovanni

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.21542/fullpdf

Reference55 articles.

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4. Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21;Baxter;Nat Genet,2002

5. REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31;Beetz;Brain,2008

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