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Elisa Majounie
Elisa Majounie
BC Cancer Agency
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Cited by
Cited by
Year
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD
AE Renton, E Majounie, A Waite, J Simón-Sánchez, S Rollinson, ...
Neuron 72 (2), 257-268, 2011
46862011
TREM2 variants in Alzheimer's disease
R Guerreiro, A Wojtas, J Bras, M Carrasquillo, E Rogaeva, E Majounie, ...
New England Journal of Medicine 368 (2), 117-127, 2013
30392013
Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study
E Majounie, AE Renton, K Mok, EGP Dopper, A Waite, S Rollinson, ...
The Lancet Neurology 11 (4), 323-330, 2012
12852012
Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease
R Sims, SJ Van Der Lee, AC Naj, C Bellenguez, N Badarinarayan, ...
Nature genetics 49 (9), 1373-1384, 2017
8892017
Common polygenic variation enhances risk prediction for Alzheimer’s disease
V Escott-Price, R Sims, C Bannister, D Harold, M Vronskaya, E Majounie, ...
Brain 138 (12), 3673-3684, 2015
4182015
Loss of VPS13C function in autosomal-recessive parkinsonism causes mitochondrial dysfunction and increases PINK1/Parkin-dependent mitophagy
S Lesage, V Drouet, E Majounie, V Deramecourt, M Jacoupy, A Nicolas, ...
The American Journal of Human Genetics 98 (3), 500-513, 2016
4042016
Unbiased screen for interactors of leucine-rich repeat kinase 2 supports a common pathway for sporadic and familial Parkinson disease
A Beilina, IN Rudenko, A Kaganovich, L Civiero, H Chau, SK Kalia, ...
Proceedings of the National Academy of Sciences 111 (7), 2626-2631, 2014
3782014
Excessive burden of lysosomal storage disorder gene variants in Parkinson’s disease
LA Robak, IE Jansen, J Van Rooij, AG Uitterlinden, R Kraaij, J Jankovic, ...
Brain 140 (12), 3191-3203, 2017
3682017
Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72
A Chiň, G Borghero, G Restagno, G Mora, C Drepper, BJ Traynor, ...
Brain 135 (3), 784-793, 2012
2292012
Parkinson’s disease in GTP cyclohydrolase 1 mutation carriers
NE Mencacci, IU Isaias, MM Reich, C Ganos, V Plagnol, JM Polke, J Bras, ...
Brain 137 (9), 2480-2492, 2014
2092014
Systematic Review and UK‐Based Study of PARK2 (parkin), PINK1, PARK7 (DJ‐1) and LRRK2 in early‐onset Parkinson's disease
LL Kilarski, JP Pearson, V Newsway, E Majounie, MDW Knipe, ...
Movement Disorders 27 (12), 1522-1529, 2012
2052012
Repeat Expansion in C9ORF72 in Alzheimer's Disease
E Majounie, Y Abramzon, AE Renton, R Perry, SS Bassett, O Pletnikova, ...
New England Journal of Medicine 366 (3), 283-284, 2012
1972012
Extensive genetics of ALS: a population-based study in Italy
A Chiň, A Calvo, L Mazzini, R Cantello, G Mora, C Moglia, L Corrado, ...
Neurology 79 (19), 1983-1989, 2012
1922012
Germline and somatic NF1 gene mutation spectrum in NF1‐associated malignant peripheral nerve sheath tumors (MPNSTs)
M Upadhyaya, L Kluwe, G Spurlock, B Monem, E Majounie, ...
Human mutation 29 (1), 74-82, 2008
1332008
Characterization of the somatic mutational spectrum of the neurofibromatosis type 1 (NF1) gene in neurofibromatosis patients with benign and malignant tumors
M Upadhyaya, S Han, C Consoli, E Majounie, M Horan, NS Thomas, ...
Human mutation 23 (2), 134-146, 2004
1232004
Age-associated miRNA alterations in skeletal muscle from rhesus monkeys reversed by caloric restriction
EM Mercken, E Majounie, J Ding, R Guo, J Kim, M Bernier, J Mattison, ...
Aging (Albany NY) 5 (9), 692, 2013
1222013
Pan-cancer analysis of advanced patient tumors reveals interactions between therapy and genomic landscapes
E Pleasance, E Titmuss, L Williamson, H Kwan, L Culibrk, EY Zhao, ...
Nature Cancer 1 (4), 452-468, 2020
1182020
Familial frontotemporal dementia with amyotrophic lateral sclerosis and a shared haplotype on chromosome 9p
JP Pearson, NM Williams, E Majounie, A Waite, J Stott, V Newsway, ...
Journal of neurology 258, 647-655, 2011
1182011
Discovery and functional prioritization of Parkinson’s disease candidate genes from large-scale whole exome sequencing
IE Jansen, H Ye, S Heetveld, MC Lechler, H Michels, RI Seinstra, ...
Genome biology 18, 1-26, 2017
1172017
NeuroX, a fast and efficient genotyping platform for investigation of neurodegenerative diseases
MA Nalls, J Bras, DG Hernandez, MF Keller, E Majounie, AE Renton, ...
Neurobiology of aging 36 (3), 1605. e7-1605. e12, 2015
1112015
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