Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia-Reference-Cited by-同舟云学术

Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia

Published:2010-10-08 Issue:1 Volume:10 Page:
ISSN:1471-2377
Container-title:BMC Neurology
language:en
Short-container-title:BMC Neurol

Author:

Álvarez Victoria, ,Sánchez-Ferrero Elena,Beetz Christian,Díaz Marta,Alonso Belén,Corao Ana I,Gámez Josep,Esteban Jesús,Gonzalo Juan F,Pascual-Pascual Samuel I,de Munain Adolfo López,Moris Germán,Ribacoba Renne,Márquez Celedonio,Rosell Jordi,Marín Rosario,García-Barcina Maria J,del Castillo Emilia,Benito Carmen,Coto Eliecer

Publisher

Springer Science and Business Media LLC

Subject

Clinical Neurology,General Medicine

Link

http://link.springer.com/content/pdf/10.1186/1471-2377-10-89.pdf

Reference47 articles.

1. Harding AE: Classification of the hereditary ataxias and paraplegias. Lancet. 1983, 1: 1151-1155. 10.1016/S0140-6736(83)92879-9.

2. Stevanin G, Ruberg M, Brice A: Recent advances in the genetics of spastic paraplegias. Curr Neurol Neurosci Rep. 2008, 8: 198-210. 10.1007/s11910-008-0032-z.

3. Salinas S, Proukakis C, Crosby A, Warner TT: Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms. Lancet Neurol. 2008, 7: 1127-38. 10.1016/S1474-4422(08)70258-8.

4. Dursun U, Koroglu C, Kocasoy Orhan E, Ugur SA, Tolun A: Autosomal recessive spastic paraplegia (SPG45) with mental retardation maps to10q24.3-q25.1. Neurogenetics. 2009, 10: 325-31. 10.1007/s10048-009-0191-3.

5. Errico A, Ballabio A, Rugarli EI: Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics. Hum Mol Genet. 2002, 11: 153-63. 10.1093/hmg/11.2.153.

Cited by 51 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. Patients with complex and very-early-onset ATL1-related spastic paraplegia offer insights on genotype/phenotype correlations and support for autosomal recessive forms of SPG3A;Journal of Neurology;2024-07-13

2. Cohort analysis of novel SPAST variants in SPG4 patients and implementation of in vitro and in vivo studies to identify the pathogenic mechanism caused by splicing mutations;Frontiers in Neurology;2023-12-07

3. Genetic etiology of progressive pediatric neurological disorders;Pediatric Research;2023-08-10

4. Novel mutation of SPG4 gene in a Chinese family with hereditary spastic paraplegia: A case report;World Journal of Clinical Cases;2023-05-16

5. Copy number variations in SPAST and ATL1 are rare among Brazilians;Clinical Genetics;2023-01-15