Concepedia
Journal of the Neurological Sciences · 2003 · 31 citations · 8 references
Life SciencesGeneticsNeurologyHuman GeneticsMedical GeneticsNeurogeneticsGenetic DisordersGenetic SyndromesInherited Disease TestingMovement Disorder GeneticsRare Disease GeneticsMutationNeuromuscular Genetic Disorders
8
Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia
Jamïlé Hazan, Núria Fonknechten, Delphine Mavel et al. · Nature Genetics · 1999 · 633 citations
Medicine, Neurology, Neuroscience +4
A Kinesin Heavy Chain (KIF5A) Mutation in Hereditary Spastic Paraplegia (SPG10)
Evan Reid, Mark Kloos, Allison E. Ashley‐Koch et al. · The American Journal of Human Genetics · 2002 · 540 citations · Full text
Life Sciences, Neurology, Neuroscience +13
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 et al. · The American Journal of Human Genetics · 2002 · 371 citations · Full text
Life Sciences, Genetics, Neurology +14
Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia
Xinping Zhao, David M. Alvarado, Shirley Rainier et al. · Nature Genetics · 2001 · 359 citations
Life Sciences, Genetics, Neurology +10
Mutation analysis of the<i>spastin</i>gene (<i>SPG4</i>) in patients in Germany with autosomal dominant hereditary spastic paraplegia
Simone M. Sauter, Bianca Miterski, Sven Klimpe et al. · Human Mutation · 2002 · 99 citations
Life Sciences, Genetics, Neurology +11