Novel mutations in typical and atypical genetic loci through exome sequencing in autosomal recessive cerebellar ataxia families-Reference-Cited by-同舟云学术

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Novel mutations in typical and atypical genetic loci through exome sequencing in autosomal recessive cerebellar ataxia families

Published:2013-10-13 Issue:4 Volume:86 Page:335-341
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Faruq M.¹²,Narang A.³,Kumari R.¹,Pandey R.¹,Garg A.⁴,Behari M.²,Dash D.³,Srivastava A.K.²,Mukerji M.¹

Affiliation:

1. Genomics and Molecular Medicine; CSIR - Institute of Genomics and Integrative Biology; Delhi India

2. Neurology Department, Neuroscience Centre; All India Institute of Medical Sciences; New Delhi India

3. GNR Knowledge Center for Genome Informatics; CSIR-Institute of Genomics and Integrative Biology; Delhi India

4. Neuro-Radiology Department, Neuroscience Centre; All India Institute of Medical Sciences; New Delhi India

Funder

CSIR

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference16 articles.

1. Milestones in ataxia;Klockgether;Mov Disord,2011

2. Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond;Durr;Lancet Neurol,2010

3. Recent advances in the genetics of cerebellar ataxias;Sailer;Curr Neurol Neurosci Rep,2012

4. North and South Indian populations share a common ancestral origin of Friedreich's ataxia but vary in age of GAA repeat expansion;Singh;Ann Hum Genet,2010

5. Autosomal-recessive congenital cerebellar ataxia is caused by mutations in metabotropic glutamate receptor 1;Guergueltcheva;Am J Hum Genet,2012

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1. Genetic investigation of patients with autosomal recessive ataxia and identification of two novel variants in the SQSTM1 and SYNE1 genes;Human Genome Variation;2024-08-30

2. Whole Exome Sequencing Identifies Variable Expression of CLN6Variants in PME Affected Families;Epilepsy Research;2023-12

3. Genetic Heterogeneity Underlying Phenotypes with Early-Onset Cerebellar Atrophy;International Journal of Molecular Sciences;2023-11-16

4. Clinical and genetic characterization of neuronal ceroid lipofuscinoses (NCLs) in 29 Iranian patients: identification of 11 novel mutations;Human Genetics;2023-04-19

5. Clinical and genetic characterization of Neuronal ceroid lipofuscinoses (NCLs) in 29 Iranian patients: Identification of 11 novel mutations;2023-02-01

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