SPTLC1 mutation in twin sisters with hereditary sensory neuropathy type I-Reference-Cited by-同舟云学术

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SPTLC1 mutation in twin sisters with hereditary sensory neuropathy type I

Published:2004-03-22 Issue:6 Volume:62 Page:1001-1002
ISSN:0028-3878
Container-title:Neurology
language:en
Short-container-title:Neurology

Author:

Verhoeven K.,Coen K.,De Vriendt E.,Jacobs A.,Van Gerwen V.,Smouts I.,Pou-Serradell A.,Martin J. -J.,Timmerman V.,De Jonghe P.

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Neurology (clinical)

Cited by 35 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. HSAN1 mutations in serine palmitoyltransferase reveal a close structure–function–phenotype relationship;Human Molecular Genetics;2015-12-17

2. Human genetic disorders of sphingolipid biosynthesis;Journal of Inherited Metabolic Disease;2014-08-21

3. Mutations in the SPTLC1 Protein Cause Mitochondrial Structural Abnormalities and Endoplasmic Reticulum Stress in Lymphoblasts;DNA and Cell Biology;2014-07

4. Early-onset severe hereditary sensory and autonomic neuropathy type 1 with S331F SPTLC1 mutation;Molecular Medicine Reports;2013-11-18

5. Hereditary sensory and autonomic neuropathy type 1 (HSANI) caused by a novel mutation in SPTLC2;Neurology;2013-05-08

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