List of works by Sruti Rayaprolu

A KCNC3 mutation causes a neurodevelopmental, non-progressive SCA13 subtype associated with dominant negative effects and aberrant EGFR trafficking

scientific article published on 3 May 2017

A novel de novo pathogenic mutation in the CACNA1A gene

scientific article

Analysis of COQ2 gene in multiple system atrophy

scientific article

Analysis of the C9orf72 repeat in Parkinson's disease, essential tremor and restless legs syndrome

scientific article published on 18 October 2012

Angiogenin variation and Parkinson disease

scientific article published in May 2012

Association between alcohol and cardiovascular disease: Mendelian randomisation analysis based on individual participant data

scientific article

Association of Parkinson disease age of onset with DRD2, DRD3 and GRIN2B polymorphisms

scientific article published on 25 November 2015

Association of the APOE, MTHFR and ACE Genes Polymorphisms and Stroke in Zambian Patients

scientific article

Frequency of APOE, MTHFR and ACE polymorphisms in the Zambian population

scientific article

GWAS risk factors in Parkinson's disease: LRRK2 coding variation and genetic interaction with PARK16.

scientific article

Genetic variation of the retromer subunits VPS26A/B-VPS29 in Parkinson's disease

scientific article

Heterogeneity of Matrin 3 in the developing and aging murine central nervous system

scientific article published on 15 February 2016

Investigating FUS variation in Parkinson's disease

scientific article published on January 2014

Investigating the role of FUS exonic variants in essential tremor

scientific article published on 16 April 2013

LRRK2 exonic variants and risk of multiple system atrophy

scientific article

Length of normal alleles of C9ORF72 GGGGCC repeat do not influence disease phenotype

scientific article published on 26 July 2012

Low density lipoprotein receptor related protein 1 and 6 gene variants and ischaemic stroke risk

scientific article published on 29 May 2015

NOTCH3 variants and risk of ischemic stroke

scientific article

Role for the microtubule-associated protein tau variant p.A152T in risk of α-synucleinopathies

scientific article

SLC1A2 rs3794087 does not associate with essential tremor

scientific article

TARDBP mutations in Parkinson's disease

scientific article

TREM2 in neurodegeneration: evidence for association of the p.R47H variant with frontotemporal dementia and Parkinson's disease

scientific article published on 21 June 2013

TREM2 p.R47H substitution is not associated with dementia with Lewy bodies

scientific article published on 14 July 2016

VPS35 and DNAJC13 disease-causing variants in essential tremor

scientific article published on 13 August 2014

Paulina is supported by:

About Paulina

Help