Akses publik

Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7

A Ben Ammar, F Petit, N Alexandri, K Gaudon, S Bauché, A Rouche, ...

Journal of neurology 257, 754-766, 2010

Mandat: National Institute of Health and Medical Research, France

The CHRNE 1293insG founder mutation is a frequent cause of congenital myasthenia in North Africa

P Richard, K Gaudon, H Haddad, AB Ammar, E Genin, S Bauché, ...

Neurology 71 (24), 1967-1972, 2008

Mandat: German Research Foundation, National Institute of Health and Medical …

The role of SNCA and MAPT in Parkinson disease and LRRK2 parkinsonism in the Tunisian Arab-Berber population.

J Trinh, EK Gustavsson, I Guella, C Vilariño‐Güell, D Evans, ...

European Journal of Neurology 21 (11), 2014

Mandat: Canadian Institutes of Health Research, Genome Canada

Tersedia di suatu tempat: 41

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

Mandat: US National Institutes of Health, Genome Canada

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

Mandat: US National Institutes of Health, Genome Canada, National Institute of …

[PDF] oup.com

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

Mandat: US National Institutes of Health, Canadian Institutes of Health Research …

[PDF] academia.edu

LRRK2 Gly2019Ser penetrance in Arab–Berber patients from Tunisia: a case-control genetic study

MM Hulihan, L Ishihara-Paul, J Kachergus, L Warren, R Amouri, R Elango, ...

The Lancet Neurology 7 (7), 591-594, 2008

Mandat: US National Institutes of Health

Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity

MB Hammer, G Eleuch-Fayache, LV Schottlaender, H Nehdi, JR Gibbs, ...

The American Journal of Human Genetics 92 (2), 245-251, 2013

Mandat: US National Institutes of Health

Urinary LRRK2 phosphorylation predicts parkinsonian phenotypes in G2019S LRRK2 carriers

KB Fraser, MS Moehle, RN Alcalay, AB West, LRRK2 Cohort Consortium, ...

Neurology 86 (11), 994-999, 2016

Mandat: US National Institutes of Health, Parkinson's Foundation, USA

Defects in the CAPN1 gene result in alterations in cerebellar development and cerebellar ataxia in mice and humans

Y Wang, J Hersheson, D Lopez, M Hammer, Y Liu, KH Lee, V Pinto, ...

Cell reports 16 (1), 79-91, 2016

Mandat: US National Institutes of Health, National Fund for Scientific Research …

[PDF] academia.edu

A comparative study of Parkinson's disease and leucine-rich repeat kinase 2 p. G2019S parkinsonism

J Trinh, R Amouri, JE Duda, JF Morley, M Read, A Donald, ...

Neurobiology of aging 35 (5), 1125-1131, 2014

Mandat: US National Institutes of Health, Genome Canada

[PDF] ox.ac.uk

DNM3 and genetic modifiers of age of onset in LRRK2 Gly2019Ser parkinsonism: a genome-wide linkage and association study

J Trinh, EK Gustavsson, C Vilariño-Güell, S Bortnick, J Latourelle, ...

The Lancet Neurology 15 (12), 1248-1256, 2016

Mandat: US National Institutes of Health, Canadian Institutes of Health Research …

[PDF] wiley.com

Nonsteroidal Anti‐inflammatory Use and LRRK2 Parkinson's Disease Penetrance

M San Luciano, CM Tanner, C Meng, C Marras, SM Goldman, AE Lang, ...

Movement Disorders 35 (10), 1755-1764, 2020

Mandat: US National Institutes of Health, German Research Foundation, Michael J Fox …

PINK1 mutations and parkinsonism

L Ishihara-Paul, MM Hulihan, J Kachergus, R Upmanyu, L Warren, ...

Neurology 71 (12), 896-902, 2008

Mandat: US National Institutes of Health

Characterization of DCTN1 genetic variability in neurodegeneration

C Vilarino-Guell, C Wider, AI Soto-Ortolaza, SA Cobb, JM Kachergus, ...

Neurology 72 (23), 2024-2028, 2009

Mandat: US National Institutes of Health

[PDF] nih.gov

LRRK2 parkinsonism in Tunisia and Norway: A comparative analysis of disease penetrance

F Hentati, J Trinh, C Thompson, E Nosova, MJ Farrer, JO Aasly

Neurology 83 (6), 568-569, 2014

Mandat: Canadian Institutes of Health Research, Genome Canada, Research Council of …

[PDF] academia.edu

A comparative study of LRRK2, PINK1 and genetically undefined familial Parkinson's disease

K Nishioka, M Kefi, B Jasinska-Myga, C Wider, C Vilariño-Güell, OA Ross, ...

Journal of Neurology, Neurosurgery & Psychiatry 81 (4), 391-395, 2010

Mandat: Swiss National Science Foundation, US National Institutes of Health

ATP13A2 variability in Parkinson disease

C Vilariño‐Güell, AI Soto, SJ Lincoln, SB Yahmed, M Kefi, MG Heckman, ...

Human mutation 30 (3), 406-410, 2009

Mandat: US National Institutes of Health

[PDF] plos.org

A mutation causes MuSK reduced sensitivity to agrin and congenital myasthenia

A Ben Ammar, P Soltanzadeh, S Bauché, P Richard, E Goillot, R Herbst, ...

PloS one 8 (1), e53826, 2013

Mandat: Austrian Science Fund, National Institute of Health and Medical Research, France