Mutations in the Novel Mitochondrial Protein REEP1 Cause Hereditary Spastic Paraplegia Type 31-Reference-Cited by-同舟云学术

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Mutations in the Novel Mitochondrial Protein REEP1 Cause Hereditary Spastic Paraplegia Type 31

Published:2006-08 Issue:2 Volume:79 Page:365-369
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Züchner Stephan,Wang Gaofeng,Tran-Viet Khanh-Nhat,Nance Martha A.,Gaskell Perry C.,Vance Jeffery M.,Ashley-Koch Allison E.,Pericak-Vance Margaret A.

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference15 articles.

1. The hereditary spastic paraplegias;Reid;J Neurol,1999

2. Advances in the hereditary spastic paraplegias;Fink;Exp Neurol Suppl,2003

3. A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10);Reid;Am J Hum Genet,2002

4. Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60;Hansen;Am J Hum Genet,2002

5. A new locus for dominant hereditary spastic paraplegia maps to chromosome 2p12;Züchner;Neurogenetics,2006

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1. Generation of a human induced pluripotent stem cell line (FSMi001-A) from fibroblasts of a patient carrying heterozygous mutation in the REEP1 gene;Stem Cell Research;2024-09

2. Atlastin-1 regulates endosomal tubulation and lysosomal proteolysis in human cortical neurons;Neurobiology of Disease;2024-09

3. Fam134c and Fam134b shape axonal endoplasmic reticulum architecture in vivo;EMBO Reports;2024-07-22

4. Phenotypic variability in a large kindred with spastic paraplegia associated with a novel REEP1 variant;eNeurologicalSci;2024-06

5. Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing;2024-05-04

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