ADSSL1mutation relevant to autosomal recessive adolescent onset distal myopathy-Reference-Cited by-同舟云学术

ADSSL1mutation relevant to autosomal recessive adolescent onset distal myopathy

Published:2015-12-15 Issue:2 Volume:79 Page:231-243
ISSN:0364-5134
Container-title:Annals of Neurology
language:en
Short-container-title:Ann Neurol.

Author:

Park Hyung Jun¹²,Hong Young Bin³,Choi Young-Chul²,Lee Jinho³,Kim Eun Ja³,Lee Ji-Su⁴,Mo Won Min³,Ki Soo Mi⁴,Kim Hyo In⁴,Kim Hye Jin⁵,Hyun Young Se⁵,Hong Hyun Dae⁵,Nam Kisoo⁶,Jung Sung Chul⁷,Kim Sang-Beom⁸,Kim Se Hoon⁹,Kim Deok-Ho¹⁰,Oh Ki-Wook¹¹,Kim Seung Hyun¹¹,Yoo Jeong Hyun¹²,Lee Ji Eun⁴¹³,Chung Ki Wha⁵,Choi Byung-Ok³⁴¹⁴

Affiliation:

1. Department of Neurology; Mokdong Hospital, Ewha Womans University School of Medicine; Seoul South Korea

2. Department of Neurology; Yonsei University College of Medicine; Seoul South Korea

3. Department of Neurology; Samsung Medical Center, Sungkyunkwan University School of Medicine; Seoul South Korea

4. Department of Health Sciences and Technology; Samsung Advanced Institute for Health Sciences and Technology, Sungkyunkwan University; Seoul South Korea

5. Department of Biological Science; Kongju National University; Gongju South Korea

6. Department of Chemistry; New York University; New York NY

7. Department of Biochemistry; Ewha Womans University School of Medicine; Seoul South Korea

8. Department of Neurology; Kyung Hee University College of Medicine, Kangdong Hospital; Seoul South Korea

9. Department of Pathology; Yonsei University College of Medicine; Seoul South Korea

10. Department of Bioengineering; University of Washington; Seattle WA

11. Department of Neurology; College of Medicine, Hanyang University; Seoul South Korea

12. Department of Radiology; Mokdong Hospital, Ewha Womans University School of Medicine; Seoul South Korea

13. Samsung Genome Institute, Samsung Medical Center; Seoul South Korea

14. Neuroscience Center, Samsung Medical Center; Seoul South Korea

Funder

Korean Health Technology R&D Project, Ministry of Health and Welfare

National Research Foundation of Korea

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Reference36 articles.

1. The 2015 version of the gene table of monogenic neuromuscular disorders (nuclear genome);Kaplan;Neuromuscul Disord,2014

2. The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy;Eisenberg;Nat Genet,2001

3. Distal myopathy caused by homozygous missense mutations in the nebulin gene;Wallgren-Pettersson;Brain,2007

4. Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy;Liu;Nat Genet,1998

5. Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies;Bolduc;Am J Hum Genet,2010

Cited by 33 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. Recessive GNE Mutations in Korean Nonaka Distal Myopathy Patients with or without Peripheral Neuropathy;Genes;2024-04-11

2. Childhood-Onset Myopathy With Preserved Ambulation Caused by a Recurrent ADSSL1 Missense Variant;Neurology Genetics;2024-02

3. Metabolic Malfunction Mars Muscle Mitochondria;Neurology Genetics;2024-02

4. Neurological presentations of inborn errors of purine and pyrimidine metabolism;European Journal of Paediatric Neurology;2024-01

5. Integrated Functions of Cardiac Energetics, Mechanics, and Purine Nucleotide Metabolism;Comprehensive Physiology;2023-12-29