Febrile ataxia and myokymia broaden the SPG26 hereditary spastic paraplegia phenotype-Reference-Cited by-同舟云学术

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Febrile ataxia and myokymia broaden the SPG26 hereditary spastic paraplegia phenotype

Published:2017-05-23 Issue:3 Volume:3 Page:e156
ISSN:2376-7839
Container-title:Neurology Genetics
language:en
Short-container-title:Neurol Genet

Author:

Dad Rubina,Walker Susan,Scherer Stephen W.,Hassan Muhammad Jawad,Alghamdi Mohammad Domaia,Minassian Berge A.,Alkhater Reem A.

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Genetics (clinical),Neurology (clinical)

Reference7 articles.

1. Molecular aspects of hereditary spastic paraplegia

2. Clinical and genetic study of hereditary spastic paraplegia in Canada;Chrestian;Neurol Genet,2016

3. Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis

4. Alteration of Ganglioside Biosynthesis Responsible for Complex Hereditary Spastic Paraplegia

5. Novel B4GALNT1 mutations in a complicated form of hereditary spastic paraplegia;Wakil;Clin Genet,2014

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1. Glycosphingolipids in congenital disorders of glycosylation (CDG);Molecular Genetics and Metabolism;2024-05

2. Disordered testosterone transport in mice lacking the ganglioside GM2/GD2 synthase gene;FEBS Open Bio;2023-04-06

3. Hereditary spastic paraplegia type 26 with a novel mutation in B4GALNT1 gene and literature review of the clinical features;Journal of Pediatric Neurosciences;2023-01-30

4. Functional validation of novel variants in B4GALNT1 associated with early‐onset complex hereditary spastic paraplegia with impaired ganglioside synthesis;American Journal of Medical Genetics Part A;2022-07

5. The investigation of genetic and clinical features in patients with hereditary spastic paraplegia in central‐Southern China;Molecular Genetics & Genomic Medicine;2021-02-27

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