A homozygous missense variant in the homeobox domain of the NKX6‐2 results in progressive spastic ataxia type 8 associated with lower limb weakness and neurological manifestations-Reference-Cited by-同舟云学术

A homozygous missense variant in the homeobox domain of the NKX6‐2 results in progressive spastic ataxia type 8 associated with lower limb weakness and neurological manifestations

Published:2020-04-16 Issue:8 Volume:22 Page:
ISSN:1099-498X
Container-title:The Journal of Gene Medicine
language:en
Short-container-title:J Gene Med

Author:

Almatrafi Ahmad¹,Umair Muhammad²,Eldardear Amr³,Al‐Luqmani Majid³,Hashmi Jamil A.⁴,Albalawi Alia M.⁴⁵,Alfadhel Majid²⁶,Ramzan Khushnooda⁷,Basit Sulman⁴^ORCID

Affiliation:

1. Department of Biology, College of ScienceTaibah University Almadinah Almunawwarah Saudi Arabia

2. Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC)King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard‐Health Affairs (MNGHA) Riyadh Saudi Arabia

3. College of MedicineTaibah University Almadinah Almunawwarah Saudi Arabia

4. Center for Genetics and Inherited DiseasesTaibah University Medina Saudi Arabia

5. Department of Biology, College of ScienceKing Abdulaziz University Jeddah Jeddah Saudi Arabia

6. Division of Genetics, Department of PediatricsKing Abdullah Specialized Children's Hospital (KASCH), King Abdulaziz Medical City Riyadh Saudi Arabia

7. Department of GeneticsKing Faisal Specialist Hospital and Research Centre Riyadh Saudi Arabia

Funder

Taibah University

Publisher

Wiley

Subject

Genetics (clinical),Drug Discovery,Genetics,Molecular Biology,Molecular Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jgm.3196

Reference36 articles.

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2. A Locus for Autosomal Dominant Hereditary Spastic Ataxia, SAX1,Maps to Chromosome 12p13

3. VAMP1 Mutation Causes Dominant Hereditary Spastic Ataxia in Newfoundland Families

4. Whole-Exome Sequencing Identifies Homozygous AFG3L2 Mutations in a Spastic Ataxia-Neuropathy Syndrome Linked to Mitochondrial m-AAA Proteases

5. A Novel Frameshift Mutation in the AFG3L2 Gene in a Patient with Spinocerebellar Ataxia

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3. Ophthalmic Features in SPA-8 with a Homozygous Missense Variant in the Homeobox Domain of the NKX6‐2;Turkish Journal Of Neurology;2022