Severe epileptic encephalopathy associated with compound heterozygosity of THG1L variants in the Ashkenazi Jewish population-Reference-Cited by-同舟云学术

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Severe epileptic encephalopathy associated with compound heterozygosity of THG1L variants in the Ashkenazi Jewish population

Published:2021-03-08 Issue:5 Volume:185 Page:1589-1597
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Rabin Rachel¹^ORCID,Hirsch Yoel²,Johansson Martin M.²,Ekstein Joseph²,Ekstein Ahron³,Pappas John¹⁴^ORCID

Affiliation:

1. Clinical Genetic Services, Department of Pediatrics NYU Grossman School of Medicine New York New York USA

2. Dor Yeshorim, Committee for Prevention Jewish Genetic Diseases Brooklyn New York USA

3. Dor Yeshorim, Committee for Prevention Jewish Genetic Diseases Jerusalem Israel

4. Clinical Genetics, NYU Langone Orthopedic Hospital New York New York USA

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62147

Reference21 articles.

1. Mitofusins Mfn1 and Mfn2 coordinately regulate mitochondrial fusion and are essential for embryonic development

2. Mitochondrial Fusion Protects against Neurodegeneration in the Cerebellum

3. A mutation in the THG1L gene in a family with cerebellar ataxia and developmental delay

4. 23. The Dor Yeshorim story: Community-based carrier screening for Tay-Sachs disease

5. Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)

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1. Expression analysis of thg1l during Xenopus laevis development;The International Journal of Developmental Biology;2024-07-15

2. High number of candidate gene variants are identified as disease‐causing in a period of 4 years;American Journal of Medical Genetics Part A;2023-12-29

3. Compound heterozygous variants of THG1L result in autosomal recessive cerebellar ataxia;Journal of Human Genetics;2023-09-05

4. Biallelic Loss-of-Function Variants in BICD1 Are Associated with Peripheral Neuropathy and Hearing Loss;International Journal of Molecular Sciences;2023-05-17

5. stAPAminer: Mining Spatial Patterns of Alternative Polyadenylation for Spatially Resolved Transcriptomic Studies;Genomics, Proteomics & Bioinformatics;2023-01-18

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