List of works - Elisa Majounie

A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD

scientific article

Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing

scientific article published on 30 January 2017

Familial frontotemporal dementia with amyotrophic lateral sclerosis and a shared haplotype on chromosome 9p

scientific article

Juvenile onset Parkinsonism with "pure nigral" degeneration and POLG1 mutation.

scientific article

Large C9orf72 repeat expansions are not a common cause of Parkinson's disease

scientific article

Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy

scientific journal article

Loss-of-function mutations in RAB39B are associated with typical early-onset Parkinson disease

scientific article

Multiple system atrophy is not caused by C9orf72 hexanucleotide repeat expansions

scientific article

Mutational analysis of the VCP gene in Parkinson's disease

scientific article published on 13 September 2011

NeuroX, a fast and efficient genotyping platform for investigation of neurodegenerative diseases

scientific article

Parkinson's disease in GTP cyclohydrolase 1 mutation carriers

scientific article

Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease

scientific article

Repeat expansion in C9ORF72 in Alzheimer's disease

scientific article

SLC25A46 Mutations Associated with Autosomal Recessive Cerebellar Ataxia in North African Families.

scientific article published on 31 May 2017

TREM2 Variants in Alzheimer's Disease

scientific article

Transcriptomic profiling of the human brain reveals that altered synaptic gene expression is associated with chronological aging

scientific article published on 4 December 2017

Variation in tau isoform expression in different brain regions and disease states

scientific article published on 19 February 2013

List of works by Elisa Majounie

A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD

Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing

Familial frontotemporal dementia with amyotrophic lateral sclerosis and a shared haplotype on chromosome 9p

Juvenile onset Parkinsonism with "pure nigral" degeneration and POLG1 mutation.

Large C9orf72 repeat expansions are not a common cause of Parkinson's disease

Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy

Loss-of-function mutations in RAB39B are associated with typical early-onset Parkinson disease

Multiple system atrophy is not caused by C9orf72 hexanucleotide repeat expansions

Mutational analysis of the VCP gene in Parkinson's disease

NeuroX, a fast and efficient genotyping platform for investigation of neurodegenerative diseases

Parkinson's disease in GTP cyclohydrolase 1 mutation carriers

Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease

Repeat expansion in C9ORF72 in Alzheimer's disease

SLC25A46 Mutations Associated with Autosomal Recessive Cerebellar Ataxia in North African Families.

TREM2 Variants in Alzheimer's Disease

Transcriptomic profiling of the human brain reveals that altered synaptic gene expression is associated with chronological aging

Variation in tau isoform expression in different brain regions and disease states