A clinical, genetic, and biochemical characterization ofSPG7mutations in a large cohort of patients with hereditary spastic paraplegia-Reference-Cited by-同舟云学术

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A clinical, genetic, and biochemical characterization ofSPG7mutations in a large cohort of patients with hereditary spastic paraplegia

Published:2008-01-16 Issue:4 Volume:29 Page:522-531
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Arnoldi Alessia,Tonelli Alessandra,Crippa Francesca,Villani Gaetano,Pacelli Consiglia,Sironi Manuela,Pozzoli Uberto,D'Angelo Maria Grazia,Meola Giovanni,Martinuzzi Andrea,Crimella Claudia,Redaelli Francesca,Panzeri Chris,Renieri Alessandra,Comi Giacomo Pietro,Turconi Anna Carla,Bresolin Nereo,Bassi Maria Teresa

Funder

Cassa di Risparmio delle Province Lombarde (CARIPLO) Foundation

Ministry of Health

Ministry of University and Research

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference30 articles.

1. Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia;Atorino;J Cell Biol,2003

2. Listening to silence and understanding nonsense:exonic mutations that affect splicing;Cartegni;Nat Rev Genet,2002

3. ESEfinder: a web resource to identify exonic splicing enhancers;Cartegni;Nucleic Acids Res,2003

4. Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease;Casari;Cell,1998

5. Mitochondrial fusion and fission in mammals;Chan;Annu Rev Cell Dev Biol,2006

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