Identification of two novel ALS2 mutations in infantile-onset ascending hereditary spastic paraplegia-Reference-Cited by-同舟云学术

Identification of two novel ALS2 mutations in infantile-onset ascending hereditary spastic paraplegia

Published:2016-01-11 Issue:3-4 Volume:17 Page:260-265
ISSN:2167-8421
Container-title:Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
language:en
Short-container-title:Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Author:

Daud Shakeela¹,Kakar Naseebullah²³⁴,Goebel Ingrid²⁵,Hashmi Abu Saeed¹,Yaqub Tahir¹⁶,Nürnberg Gudrun⁷,Nürnberg Peter⁷⁸⁹,Morris-Rosendahl Deborah J.¹⁰¹¹,Wasim Muhammad¹,Volk Alexander E.²⁵,Kubisch Christian²⁵,Ahmad Jamil⁴,Borck Guntram²

Affiliation:

1. Institute of Biochemistry and Biotechnology (IBBt), UVAS, Lahore, Pakistan,

2. Institute of Human Genetics, University of Ulm, Ulm, Germany,

3. International Graduate School in Molecular Medicine Ulm, University of Ulm, Ulm, Germany,

4. Department of Biotechnology and Informatics, BUITEMS, Quetta, Pakistan,

5. Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany,

6. Department of Microbiology, UVAS, Lahore, Pakistan,

7. Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany,

8. Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany,

9. Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany,

10. Clinical Genetics and Genomics, Royal Brompton Hospital, London, United Kingdom,

11. National Heart and Lung Institute, Imperial College London, London, United Kingdom

Publisher

Informa UK Limited

Subject

Clinical Neurology,Neurology

Link

https://www.tandfonline.com/doi/pdf/10.3109/21678421.2015.1125501

Reference15 articles.

1. A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2

2. The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis

3. Infantile-Onset Ascending Hereditary Spastic Paralysis Is Associated with Mutations in the Alsin Gene

4. AnALS2gene mutation causes hereditary spastic paraplegia in a Pakistani kindred

5. PRIMARY LATERAL SCLEROSIS: CLINICAL FEATURES, NEUROPATHOLOGY AND DIAGNOSTIC CRITERIA

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