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List of works by Amirthagowri Ambalavanan

A rare variant in MLKL confers susceptibility to ApoE ɛ4-negative Alzheimer's disease in Hong Kong Chinese population

scientific article published on 10 March 2018

Absence of Mutation Enrichment for Genes Phylogenetically Conserved in the Olivocerebellar Motor Circuitry in a Cohort of Canadian Essential Tremor Cases

article

Analysis of DNAJC13 mutations in French-Canadian/French cohort of Parkinson's disease

scientific article published on 3 May 2016

Analysis of functional GLO1 variants in the BTBD9 locus and restless legs syndrome

scientific article published on 17 June 2015

De novo mutations in moderate or severe intellectual disability

scientific article

De novo variants in sporadic cases of childhood onset schizophrenia

scientific article published on 28 October 2015

Exome sequencing of sporadic childhood-onset schizophrenia suggests the contribution of X-linked genes in males

article

Family-based association study of common variants, rare mutation study and epistatic interaction detection in HDAC genes in schizophrenia

scientific article published on 18 October 2014

Family-based exome-sequencing approach identifies rare susceptibility variants for lithium-responsive bipolar disorder

scientific article published on 17 September 2013

Full sequencing and haplotype analysis of MAPT in Parkinson's disease and rapid eye movement sleep behavior disorder

scholarly article by Jiao Li et al published July 2018 in Movement Disorders

GBA p.T369M substitution in Parkinson disease: Polymorphism or association? A meta-analysis

scientific article published on 08 September 2016

Genetic architecture and adaptations of Nunavik Inuit

scientific article published on 22 July 2019

Genome-wide association analysis identifies new candidate risk loci for familial intracranial aneurysm in the French-Canadian population

scientific article published on 12 March 2018

Identification of genetic variants of LGI1 and RTN4R (NgR1) linked to schizophrenia that are defective in NgR1-LGI1 signaling

scientific article published on 11 March 2016

Increased missense mutation burden of Fatty Acid metabolism related genes in nunavik inuit population

scientific article published on 26 May 2015

Investigation of rare variants in LRP1, KPNA1, ALS2CL and ZNF480 genes in schizophrenia patients reflects genetic heterogeneity of the disease

scientific article published on 20 February 2013

Methylation of BDNF in women with bulimic eating syndromes: associations with childhood abuse and borderline personality disorder

scientific article

Missense variants in ATP1A3 and FXYD gene family are associated with childhood-onset schizophrenia

article

No rare deleterious variants from STK32B, PPARGC1A, and CTNNA3 are associated with essential tremor

scientific article published on 19 October 2017

Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features

scientific article published on 25 June 2015

Paternal Age Explains a Major Portion of De Novo Germline Mutation Rate Variability in Healthy Individuals

scientific article

RNF213 Is Associated with Intracranial Aneurysms in the French-Canadian Population

scientific article published on 30 September 2016

SMPD1 mutations, activity, and α-synuclein accumulation in Parkinson's disease

scientific article published on 20 February 2019

Teneurin transmembrane protein 4 is not a cause for essential tremor in a Canadian population

scientific article published on 3 February 2017

The role of the melanoma gene MC1R in Parkinson disease and REM sleep behavior disorder

scientific article published on 06 April 2016

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