Investigation of RFC1 tandem nucleotide repeat locus in diverse neurodegenerative outcomes in an Indian cohort-Reference-Cited by-同舟云学术

Investigation of RFC1 tandem nucleotide repeat locus in diverse neurodegenerative outcomes in an Indian cohort

Published:2023-11-02 Issue: Volume: Page:
ISSN:1364-6753
Container-title:neurogenetics
language:en
Short-container-title:Neurogenetics

Author:

Tyagi Nishu^ORCID,Uppili Bharathram,Sharma Pooja,Parveen Shaista,Saifi Sheeba,Jain Abhinav,Sonakar Akhilesh,Ahmed Istaq,Sahni Shweta,Shamim Uzma,Anand Avni,Suroliya Varun,Asokachandran Vivekanand,Srivastava Achal,Sivasubbu Sridhar,Scaria Vinod,Faruq Mohammed

Funder

CSIR-IGIB

Indian Council of Medical Research

UGC-DAE Consortium for Scientific Research, University Grants Commission

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Genetics (clinical),Genetics

Link

https://link.springer.com/content/pdf/10.1007/s10048-023-00736-6.pdf

Reference51 articles.

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2. Shakya S, Kumari R, Suroliya V et al (2019) Whole exome and targeted gene sequencing to detect pathogenic recessive variants in early onset cerebellar ataxia. Clin Genet 96(6):566–574. https://doi.org/10.1111/cge.13625

3. Uppili B, Sharma P, Ahmad I, Sahni S, Asokachandran V, Nagaraja AB, Srivastava AK, Faruq M (2023) Sequencing through hyperexpanded Friedreich's ataxia-GAA repeats by nanopore technology: implications in genotype-phenotype correlation. Brain Commun 5(2):fcad020. https://doi.org/10.1093/braincomms/fcad020

4. Sharma P, Sonakar AK, Tyagi N, Suroliya V, Kumar M, Kutum R, Asokchandran V, Ambawat S, Shamim U, Anand A, Ahmad I, Shakya S, Uppili B, Mathur A, Parveen S, Jain S, Singh J, Seth M, Zahra S et al (2022) Genetics of ataxias in Indian population: a collative insight from a common genetic screening tool. Adv Genet 3(2):2100078. https://doi.org/10.1002/GGN2.202100078

5. Bahl S, Virdi K, Mittal U, Sachdeva MP, Kalla AK, Holmes SE, O'Hearn E, Margolis RL, Jain S, Srivastava AK, Mukerji M (2005) Evidence of a common founder for SCA12 in the Indian population. Ann Hum Genet 69(Pt 5):528–534. https://doi.org/10.1046/j.1529-8817.2005.00173.x

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