A Mutation in the Vesicle-Trafficking Protein VAPB Causes Late-Onset Spinal Muscular Atrophy and Amyotrophic Lateral Sclerosis-Reference-Cited by-同舟云学术

A Mutation in the Vesicle-Trafficking Protein VAPB Causes Late-Onset Spinal Muscular Atrophy and Amyotrophic Lateral Sclerosis

Published:2004-11 Issue:5 Volume:75 Page:822-831
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Nishimura Agnes L.,Mitne-Neto Miguel,Silva Helga C.A.,Richieri-Costa Antônio,Middleton Susan,Cascio Duilio,Kok Fernando,Oliveira João R.M.,Gillingwater Tom,Webb Jeanette,Skehel Paul,Zatz Mayana

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference31 articles.

1. NMDA and non-NMDA receptors are co-localized at individual excitatory synapses in cultured rat hippocampus;Bekkers;Nature,1989

2. 2.5 Å resolution crystal structure of the motile major sperm protein (MSP) of Ascaris suum;Bullock;J Mol Biol,1996

3. DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4);Chen;Am J Hum Genet,2004

4. SMN1 gene study in three families in which ALS and spinal muscular atrophy coexist;Corcia;Neurology,2002

5. Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene;Eymard-Pierre;Am J Hum Genet,2002

Cited by 827 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. ALS-associated C21ORF2 variant disrupts DNA damage repair, mitochondrial metabolism, neuronal excitability and NEK1 levels in human motor neurons;Acta Neuropathologica Communications;2024-09-04

2. The genetics of amyotrophic lateral sclerosis;Current Opinion in Neurology;2024-08-22

3. Role of mitochondria‐endoplasmic reticulum contacts in neurodegenerative, neurodevelopmental and neuropsychiatric conditions;European Journal of Neuroscience;2024-08-05

4. Axonopathy Underlying Amyotrophic Lateral Sclerosis: Unraveling Complex Pathways and Therapeutic Insights;Neuroscience Bulletin;2024-08-04

5. VAP-mediated membrane-tethering mechanisms implicate ER-PM contact function in pH homeostasis;Cell Reports;2024-08