Putative founder effect in the Polish, Iranian and United States populations for the L144S SOD1 mutation associated with slowly uniform phenotype of amyotrophic lateral sclerosis-Reference-Cited by-同舟云学术

Putative founder effect in the Polish, Iranian and United States populations for the L144S SOD1 mutation associated with slowly uniform phenotype of amyotrophic lateral sclerosis

Published:2020-08-10 Issue:1-2 Volume:22 Page:80-85
ISSN:2167-8421
Container-title:Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
language:en
Short-container-title:Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Author:

Kuźma-Kozakiewicz Magdalena¹²,Andersen Peter M.³,Elahi Elahe⁴,Alavi Afagh⁵,Sapp Peter C.⁶,Morita Mitsuya⁷,Żekanowski Cezary⁸,Berdyński Mariusz³⁸

Affiliation:

1. Department of Neurology, Medical University of Warsaw, Warsaw, Poland

2. Neurodegenerative Diseases Research Group, Medical University of Warsaw, Warsaw, Poland

3. Institute of Clinical Science, Neurosciences, Umeå University, Umeå, Sweden

4. Faculty of Science, Tehran University, Tehran, Iran

5. Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran

6. Department of Neurology, University of Massachusetts Medical School, Worcester, MA, USA

7. Division of Neurology, Department of Internal Medicine, Jichi Medical University, Shomotsuke, Japan, and

8. Laboratory of Neurogenetics, Department of Neurodegenerative Disorders, Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland

Funder

EU Joint Program - Neurodegenerative Disease Research

Publisher

Informa UK Limited

Subject

Neurology (clinical),Neurology

Link

https://www.tandfonline.com/doi/pdf/10.1080/21678421.2020.1803359

Reference22 articles.

1. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis

2. Amyotrophic lateral sclerosis associated with mutations in the CuZn superoxide dismutase gene

3. Development of a Smartphone App for a Genetics Website: The Amyotrophic Lateral Sclerosis Online Genetics Database (ALSoD)

4. Hereditary motor neuron disease in a large Norwegian family with a “H46R” substitution in the superoxide dismutase 1 gene

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