KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations-Reference-Cited by-同舟云学术

KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations

Published:2012-01-18 Issue:6 Volume:20 Page:645-649
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Klebe Stephan,Lossos Alexander,Azzedine Hamid,Mundwiller Emeline,Sheffer Ruth,Gaussen Marion,Marelli Cecilia,Nawara Magdalena,Carpentier Wassila,Meyer Vincent,Rastetter Agnès,Martin Elodie,Bouteiller Delphine,Orlando Laurent,Gyapay Gabor,El-Hachimi Khalid H,Zimmerman Batel,Gamliel Moriya,Misk Adel,Lerer Israela,Brice Alexis,Durr Alexandra,Stevanin Giovanni

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg2011261.pdf

Reference25 articles.

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2. Salinas S, Proukakis C, Crosby A, Warner TT : Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms. Lancet Neurol 2008; 7: 1127–1138.

3. Stevanin G, Ruberg M, Brice A : Recent advances in the genetics of spastic paraplegias. Curr Neurol Neurosci Rep 2008; 8: 198–210.

4. Erlich Y, Edvardson S, Hodges E et al: Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis. Genome Res 2011; 21: 658–664.

5. Riviere JB, Ramalingam S, Lavastre V et al: KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2. Am J Hum Genet 2011.

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