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Jan   Aasly
Jan Aasly
Professor NTNU, medisin
Geverifieerd e-mailadres voor ntnu.no
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Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease
E Sidransky, MA Nalls, JO Aasly, J Aharon-Peretz, G Annesi, ER Barbosa, ...
New England Journal of Medicine 361 (17), 1651-1661, 2009
22322009
Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease
P Hollingworth, D Harold, R Sims, A Gerrish, JC Lambert, ...
Nature genetics 43 (5), 429-435, 2011
21552011
Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study
DG Healy, M Falchi, SS O'Sullivan, V Bonifati, A Durr, S Bressman, ...
The Lancet Neurology 7 (7), 583-590, 2008
16442008
VPS35 mutations in Parkinson disease
C Vilariño-Güell, C Wider, OA Ross, JC Dachsel, JM Kachergus, ...
The American Journal of Human Genetics 89 (1), 162-167, 2011
10482011
Alpha‐synuclein p. H50Q, a novel pathogenic mutation for Parkinson's disease
S Appel‐Cresswell, C Vilarino‐Guell, M Encarnacion, H Sherman, I Yu, ...
Movement disorders 28 (6), 811-813, 2013
7612013
Identification of a novel LRRK2 mutation linked to autosomal dominant parkinsonism: evidence of a common founder across European populations
J Kachergus, IF Mata, M Hulihan, JP Taylor, S Lincoln, J Aasly, JM Gibson, ...
The American Journal of Human Genetics 76 (4), 672-680, 2005
6302005
Collaborative analysis of α-synuclein gene promoter variability and Parkinson disease
DM Maraganore, M De Andrade, A Elbaz, MJ Farrer, JP Ioannidis, ...
Jama 296 (6), 661-670, 2006
6062006
Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids
R Rademakers, M Baker, AM Nicholson, NJ Rutherford, NC Finch, ...
Nature genetics 44 (2), 200-205, 2012
5222012
Cerebrospinal fluid biomarkers for Parkinson disease diagnosis and progression
M Shi, J Bradner, AM Hancock, KA Chung, JF Quinn, ER Peskind, ...
Annals of neurology 69 (3), 570-580, 2011
4742011
Translation initiator EIF4G1 mutations in familial Parkinson disease
MC Chartier-Harlin, JC Dachsel, C Vilariño-Güell, SJ Lincoln, F Leprêtre, ...
The American Journal of Human Genetics 89 (3), 398-406, 2011
3932011
The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases
C Tzoulis, BA Engelsen, W Telstad, J Aasly, M Zeviani, S Winterthun, ...
Brain 129 (7), 1685-1692, 2006
3672006
DNAJC13 mutations in Parkinson disease
C Vilariño-Güell, A Rajput, AJ Milnerwood, B Shah, C Szu-Tu, J Trinh, I Yu, ...
Human molecular genetics 23 (7), 1794-1801, 2014
3512014
Mitochondrial impairment in patients with Parkinson disease with the G2019S mutation in LRRK2
H Mortiboys, KK Johansen, JO Aasly, O Bandmann
Neurology 75 (22), 2017-2020, 2010
3482010
Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case–control study
OA Ross, AI Soto-Ortolaza, MG Heckman, JO Aasly, N Abahuni, G Annesi, ...
The Lancet Neurology 10 (10), 898-908, 2011
3382011
Clinical correlations with Lewy body pathology in LRRK2-related Parkinson disease
LV Kalia, AE Lang, LN Hazrati, S Fujioka, ZK Wszolek, DW Dickson, ...
JAMA neurology 72 (1), 100-105, 2015
3232015
APOE ε4 lowers age at onset and is a high risk factor for Alzheimer's disease; A case control study from central Norway
SB Sando, S Melquist, A Cannon, ML Hutton, O Sletvold, I Saltvedt, ...
BMC neurology 8, 1-7, 2008
3042008
Lrrk2 pathogenic substitutions in Parkinson's disease
IF Mata, JM Kachergus, JP Taylor, S Lincoln, J Aasly, T Lynch, ...
Neurogenetics 6, 171-177, 2005
2712005
Clinical features of LRRK2‐associated Parkinson's disease in central Norway
JO Aasly, M Toft, I Fernandez‐Mata, J Kachergus, M Hulihan, LR White, ...
Annals of Neurology: Official Journal of the American Neurological …, 2005
2312005
Segregation and manifestations of the mtDNA tRNA (Lys) A--> G (8344) mutation of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome.
NG Larsson, MH Tulinius, E Holme, A Oldfors, O Andersen, J Wahlström, ...
American journal of human genetics 51 (6), 1201, 1992
2151992
POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection
BA Engelsen, C Tzoulis, B Karlsen, A Lillebø, LM Lægreid, J Aasly, ...
Brain 131 (3), 818-828, 2008
1902008
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Artikelen 1–20