Pathogenic variants in the survival of motor neurons complex gene GEMIN5 cause cerebellar atrophy-Reference-Cited by-同舟云学术

Pathogenic variants in the survival of motor neurons complex gene GEMIN5 cause cerebellar atrophy

Published:2021-10-07 Issue:6 Volume:100 Page:722-730
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Saida Ken¹^ORCID,Tamaoki Junya²,Sasaki Masayuki³,Haniffa Muzhirah⁴,Koshimizu Eriko¹,Sengoku Toru⁵,Maeda Hiroki²,Kikuchi Masahiro⁶,Yokoyama Haruna³,Sakamoto Masamune¹,Iwama Kazuhiro¹,Sekiguchi Futoshi¹,Hamanaka Kohei¹,Fujita Atsushi¹,Mizuguchi Takeshi¹^ORCID,Ogata Kazuhiro⁵,Miyake Noriko¹⁷^ORCID,Miyatake Satoko¹,Kobayashi Makoto²,Matsumoto Naomichi¹

Affiliation:

1. Department of Human Genetics Yokohama City University Graduate School of Medicine Yokohama Japan

2. Department of Molecular and Developmental Biology, Faculty of Medicine University of Tsukuba Tsukuba Japan

3. Department of Child Neurology National Center of Neurology and Psychiatry Tokyo Japan

4. Department of Genetics Hospital Kuala Lumpur Kuala Lumpur Malaysia

5. Department of Biochemistry Yokohama City University Graduate School of Medicine Yokohama Japan

6. Department of Pediatrics Hitachi General Hospital Hitachi Japan

7. Department of Human Genetics Research Institute, National Center for Global Health and Medicine Toyama Japan

Funder

Japan Agency for Medical Research and Development

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.14066

Reference24 articles.

1. Genes and Genetic Testing in Hereditary Ataxias

2. The Classification of Autosomal Recessive Cerebellar Ataxias: a Consensus Statement from the Society for Research on the Cerebellum and Ataxias Task Force

3. The Spinal Muscular Atrophy Disease Gene Product, SMN, and Its Associated Protein SIP1 Are in a Complex with Spliceosomal snRNP Proteins

4. A Comprehensive Interaction Map of the Human Survival of Motor Neuron (SMN) Complex

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