A rare Cu/Zn superoxide dismutase mutation causing familial amyotrophic lateral sclerosis with variable age of onset, incomplete penetrance and a sensory neuropathy-Reference-Cited by-同舟云学术

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A rare Cu/Zn superoxide dismutase mutation causing familial amyotrophic lateral sclerosis with variable age of onset, incomplete penetrance and a sensory neuropathy

Published:2003-09 Issue:3 Volume:4 Page:162-166
ISSN:1466-0822
Container-title:Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders
language:en
Short-container-title:Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders

Author:

Rezania Kourosh,Yan Jianhua,Dellefave Lisa,Deng Han‐Xiang,Siddique Nailah,T Pascuzzi Robert,Siddique Teepu,P Roos Raymond

Publisher

Informa UK Limited

Subject

Clinical Neurology

Link

http://www.tandfonline.com/doi/pdf/10.1080/aml.4.3.162.166

Reference20 articles.

1. Genetic Disorders of Motor Neurons

2. Clinical implications of the genetics of ALS and other motor neuron diseases

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1. Sensory neuropathy in amyotrophic lateral sclerosis: a systematic review;Journal of Neurology;2023-08-23

2. De novo mutations in SOD1 are a cause of ALS;Journal of Neurology, Neurosurgery & Psychiatry;2021-09-13

3. High-Throughput Genetic Testing in ALS: The Challenging Path of Variant Classification Considering the ACMG Guidelines;Genes;2020-09-24

4. An exon 5 mutation (c.425G>C, p.Gly141Ala) in the SOD1 gene in a Chinese family associated with incomplete penetrance;Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration;2020-03-15

5. Oligogenic basis of sporadic ALS;Neurology Genetics;2019-04-23

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