✦ LIBER ✦

Hereditary spastic paraplegia-like disorder due to a mitochondrial ATP6 gene point mutation

✍ Scribed by Christophe Verny; Naig Guegen; Valerie Desquiret; Arnaud Chevrollier; Adriana Prundean; Frederic Dubas; Julien Cassereau; Marc Ferre; Patrizia Amati-Bonneau; Dominique Bonneau; Pascal Reynier; Vincent Procaccio

Book ID: 108211103
Publisher: Elsevier Science
Year: 2011
Tongue: English
Weight: 382 KB
Volume: 11
Category: Article
ISSN: 1567-7249
DOI: 10.1016/j.mito.2010.07.006

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Charcot–Marie–Tooth hereditary neuropath

Charcot–Marie–Tooth hereditary neuropathy due to a mitochondrial ATP6 mutation

✍ Matthis Synofzik; Julia Schicks; Christian Wilhelm; Antje Bornemann; Ludger Schö 📂 Article 📅 2012 🏛 John Wiley and Sons 🌐 English ⚖ 554 KB

Intragenic modifiers of hereditary spast

Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations

✍ Ingrid K. Svenson; Mark T. Kloos; P. Craig Gaskell; Martha A. Nance; James Y. Ga 📂 Article 📅 2004 🏛 Springer 🌐 English ⚖ 222 KB

A case of complicated spastic paraplegia

A case of complicated spastic paraplegia 2 due to a point mutation in the proteolipid protein 1 gene

✍ Eun Sil Lee; Han Ku Moon; Yong Hoon Park; James Garbern; Grace M. Hobson 📂 Article 📅 2004 🏛 Elsevier Science 🌐 English ⚖ 177 KB

Hereditary Spastic Paraplegia SPG13 Is A

Hereditary Spastic Paraplegia SPG13 Is Associated with a Mutation in the Gene Encoding the Mitochondrial Chaperonin Hsp60

✍ Jens Jacob Hansen; Alexandra Dürr; Isabelle Cournu-Rebeix; Costa Georgopoulos; D 📂 Article 📅 2002 🏛 American Society of Human Genetics 🌐 English ⚖ 538 KB

Peripheral neuropathy in hereditary spas

Peripheral neuropathy in hereditary spastic paraplegia due to spastin (SPG4) mutation – A neurophysiological study using excitability techniques

✍ Kishore R. Kumar; Carolyn M. Sue; David Burke; Karl Ng 📂 Article 📅 2012 🏛 Elsevier Science 🌐 English ⚖ 407 KB

NBIA due to FA2H gene mutations is allel

NBIA due to FA2H gene mutations is allelic with hereditary spastic paraplegia (SPG35) and a form of familial leukodystrophy

✍ Susanne A. Schneider 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 44 KB