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RESSIVE HF
RESSIVE HF
Politeknik Negeri Malang
Email verificata su student.polinema.ac.id
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Anno
Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism
V Bonifati, P Rizzu, MJ Van Baren, O Schaap, GJ Breedveld, E Krieger, ...
science 299 (5604), 256-259, 2003
35272003
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
23502009
Association between Early-Onset Parkinson's Disease and Mutations in the Parkin Gene
CB Lücking, A Dürr, V Bonifati, J Vaughan, G De Michele, T Gasser, ...
New England Journal of Medicine 342 (21), 1560-1567, 2000
18952000
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
17232008
A common LRRK2 mutation in idiopathic Parkinson's disease
WP Gilks, PM Abou-Sleiman, S Gandhi, S Jain, A Singleton, AJ Lees, ...
The Lancet 365 (9457), 415-416, 2005
9792005
Past, present, and future of Parkinson's disease: a special essay on the 200th anniversary of the shaking palsy
JA Obeso, M Stamelou, CG Goetz, W Poewe, AE Lang, D Weintraub, ...
Movement Disorders 32 (9), 1264-1310, 2017
9492017
Lewy pathology in Parkinson’s disease consists of crowded organelles and lipid membranes
SH Shahmoradian, AJ Lewis, C Genoud, J Hench, TE Moors, PP Navarro, ...
Nature neuroscience 22 (7), 1099-1109, 2019
8512019
A Wide Variety of Mutations in the Parkin Gene Are Responsible for Autosomal Recessive Parkinsonism in Europe
N Abbas, CB Lücking, S Ricard, A Dürr, V Bonifati, G De Michele, ...
Human molecular genetics 8 (4), 567-574, 1999
7081999
A frequent LRRK2 gene mutation associated with autosomal dominant Parkinson's disease
A Di Fonzo, CF Rohé, J Ferreira, HF Chien, L Vacca, F Stocchi, L Guedes, ...
The Lancet 365 (9457), 412-415, 2005
6802005
EFNS/MDS‐ES recommendations for the diagnosis of P arkinson's disease
A Berardelli, GK Wenning, A Antonini, D Berg, BR Bloem, V Bonifati, ...
European Journal of Neurology 20 (1), 16-34, 2013
6542013
A susceptibility locus for Parkinson's disease maps to chromosome 2p13
T Gasser, B Müller-Myhsok, ZK Wszolek, R Oehlmann, DB Calne, ...
Nature genetics 18 (3), 262-265, 1998
6461998
Noninvasive cortical stimulation with transcranial direct current stimulation in Parkinson's disease
F Fregni, PS Boggio, MC Santos, M Lima, AL Vieira, SP Rigonatti, ...
Movement disorders 21 (10), 1693-1702, 2006
5732006
DJ-1( PARK7), a novel gene for autosomal recessive, early onset parkinsonism
V Bonifati, P Rizzu, F Squitieri, E Krieger, N Vanacore, JC Van Swieten, ...
Neurological sciences 24 (3), 159-160, 2003
5682003
Park7, a novel locus for autosomal recessive early-onset parkinsonism, on chromosome 1p36
CM Van Duijn, MCJ Dekker, V Bonifati, RJ Galjaard, ...
The American Journal of Human Genetics 69 (3), 629-634, 2001
5392001
The genetics of P arkinson's disease: Progress and therapeutic implications
AB Singleton, MJ Farrer, V Bonifati
Movement Disorders 28 (1), 14-23, 2013
5082013
FBXO7 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndrome
A Di Fonzo, MCJ Dekker, P Montagna, A Baruzzi, EH Yonova, LC Guedes, ...
Neurology 72 (3), 240-245, 2009
4672009
ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease
A Di Fonzo, HF Chien, M Socal, S Giraudo, C Tassorelli, G Iliceto, ...
Neurology 68 (19), 1557-1562, 2007
4592007
Mutations in SLC30A10 cause parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease
M Quadri, A Federico, T Zhao, GJ Breedveld, C Battisti, C Delnooz, ...
The American Journal of Human Genetics 90 (3), 467-477, 2012
4402012
Early-onset parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes
V Bonifati, CF Rohe, GJ Breedveld, E Fabrizio, M De Mari, C Tassorelli, ...
Neurology 65 (1), 87-95, 2005
4222005
How much phenotypic variation can be attributed to parkin genotype?
E Lohmann, M Periquet, V Bonifati, NW Wood, G De Michele, AM Bonnet, ...
Annals of neurology 54 (2), 176-185, 2003
3902003
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