Associated Papers
Exome Sequencing of a Type 1 Diabetes Mellitus Family Exposes Both Common and Individualized Rare Variants Contributing to Pathogenesis.
Ibrahim TAM et al.
Journal of Diabetes Research, 2025
41376825 (PubMed )
Supplement: 3346256.f1.pdf
A novel homozygous variant in an Iranian pedigree with cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 4.
Mohamadian M et al.
Journal of Clinical Laboratory Analysis, 2020
33079427 (PubMed )
Supplement: JCLA-34-e23484-s001.xlsx › Sheet2
A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK.
Morgan S et al.
Brain : a Journal of Neurology, 2017
Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing.
Kenna KP et al.
Journal of Medical Genetics, 2013
23881933 (PubMed )
Supplement: jmedgenet-2013-101795-s1.pdf
A novel peripherin gene (PRPH) mutation identified in one sporadic amyotrophic lateral sclerosis patient.
Corrado L et al.
Neurobiology of Aging, 2011
A frameshift deletion in peripherin gene associated with amyotrophic lateral sclerosis.
Gros-Louis F et al.
The Journal of Biological Chemistry, 2004
[Variation of the peripherin gene in Chinese with or without high myopia].
Li J et al.
Yi Chuan = Hereditas, 2002
Select a paper to view details