Mutations at Ser331 in the HSN type I gene SPTLC1 are associated with a distinct syndromic phenotype-Reference-Cited by-同舟云学术

Mutations at Ser331 in the HSN type I gene SPTLC1 are associated with a distinct syndromic phenotype

Published:2013-05 Issue:5 Volume:56 Page:266-269
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Auer-Grumbach Michaela,Bode Heiko,Pieber Thomas R.,Schabhüttl Maria,Fischer Dirk,Seidl Rainer,Graf Elisabeth,Wieland Thomas,Schuh Reinhard,Vacariu Gerda,Grill Franz,Timmerman Vincent,Strom Tim M.,Hornemann Thorsten

Funder

Austrian Science Fund

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference13 articles.

1. Mechanisms of disease in heriditary sensory and autonomic neuropathies;Rotthier;Nat. Rev. Neurol.,2012

2. Autosomal dominant inherited neuropathies with prominent sensory loss and mutilations;Auer-Grumbach;Arch. Neurol.,2003

3. Neuronal Atrophy and Degeneration Predominantly Affecting Peripheral Sensory and Autonomic Neurons;Dyck,1993

4. Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain subunit-1 cause hereditary sensory neuropathy type I;Dawkins;Nat. Genet.,2001

5. Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation;Rotthier;Brain,2009

Cited by 37 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. Serine Palmitoyltransferase (SPT)-related Neurodegenerative and Neurodevelopmental Disorders;Journal of Neuromuscular Diseases;2024-07-02

2. Functional and Molecular Characterization of New SPTLC1 Missense Variants in Patients with Hereditary Sensory and Autonomic Neuropathy Type 1 (HSAN1);Genes;2024-05-26

3. Human genetic defects of sphingolipid synthesis;Journal of Inherited Metabolic Disease;2024-05-05

4. Yeast Models of Amyotrophic Lateral Sclerosis Type 8 Mimic Phenotypes Seen in Mammalian Cells Expressing Mutant VAPBP56S;Biomolecules;2023-07-19

5. Spectrum of SPTLC1-related disorders: a novel case of ‘Ser331 syndrome’ that expand the phenotype of hereditary sensory and autonomic neuropathy type 1A and motor neuron diseases;Neurological Sciences;2023-03-24