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Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study.
Healy DG, Falchi M, O'Sullivan SS, Bonifati V, Durr A, Bressman S, Brice A, Aasly J, Zabetian CP, Goldwurm S, Ferreira JJ, Tolosa E, Kay DM, Klein C, Williams DR, Marras C, Lang AE, Wszolek ZK, Berciano J, Schapira AH, Lynch T, Bhatia KP, Gasser T, Lees AJ, Wood NW; International LRRK2 Consortium. Healy DG, et al. Among authors: berciano j. Lancet Neurol. 2008 Jul;7(7):583-90. doi: 10.1016/S1474-4422(08)70117-0. Epub 2008 Jun 6. Lancet Neurol. 2008. PMID: 18539534 Free PMC article.
The alpha-synuclein gene in multiple system atrophy.
Ozawa T, Healy DG, Abou-Sleiman PM, Ahmadi KR, Quinn N, Lees AJ, Shaw K, Wullner U, Berciano J, Moller JC, Kamm C, Burk K, Josephs KA, Barone P, Tolosa E, Goldstein DB, Wenning G, Geser F, Holton JL, Gasser T, Revesz T, Wood NW; European MSA study group. Ozawa T, et al. Among authors: berciano j. J Neurol Neurosurg Psychiatry. 2006 Apr;77(4):464-7. doi: 10.1136/jnnp.2005.073528. J Neurol Neurosurg Psychiatry. 2006. PMID: 16543523 Free PMC article.
Olfaction and imaging biomarkers in premotor LRRK2 G2019S-associated Parkinson disease.
Sierra M, Sánchez-Juan P, Martínez-Rodríguez MI, González-Aramburu I, García-Gorostiaga I, Quirce MR, Palacio E, Carril JM, Berciano J, Combarros O, Infante J. Sierra M, et al. Among authors: berciano j. Neurology. 2013 Feb 12;80(7):621-6. doi: 10.1212/WNL.0b013e31828250d6. Epub 2013 Jan 16. Neurology. 2013. PMID: 23325906
The European Multiple System Atrophy-Study Group (EMSA-SG).
Geser F, Seppi K, Stampfer-Kountchev M, Köllensperger M, Diem A, Ndayisaba JP, Ostergaard K, Dupont E, Cardozo A, Tolosa E, Abele M, Dodel R, Klockgether T, Ghorayeb I, Yekhlef F, Tison F, Daniels C, Kopper F, Deuschl G, Coelho M, Ferreira J, Rosa MM, Sampaio C, Bozi M, Schrag A, Hooker J, Kim H, Scaravilli T, Mathias CJ, Fowler C, Wood N, Quinn N, Widner H, Nilsson CF, Lindvall O, Schimke N, Eggert KM, Oertel W, del Sorbo F, Carella F, Albanese A, Pellecchia MT, Barone P, Djaldetti R, Meco G, Colosimo C, Gonzalez-Mandly A, Berciano J, Gurevich T, Giladi N, Galitzky M, Ory F, Rascol O, Kamm C, Buerk K, Maass S, Gasser T, Poewe W, Wenning GK; EMSA-SG. Geser F, et al. Among authors: berciano j. J Neural Transm (Vienna). 2005 Dec;112(12):1677-86. doi: 10.1007/s00702-005-0328-y. Epub 2005 Jul 29. J Neural Transm (Vienna). 2005. PMID: 16049636 Review.
Long-term disease progression in spinocerebellar ataxia types 1, 2, 3, and 6: a longitudinal cohort study.
Jacobi H, du Montcel ST, Bauer P, Giunti P, Cook A, Labrum R, Parkinson MH, Durr A, Brice A, Charles P, Marelli C, Mariotti C, Nanetti L, Panzeri M, Rakowicz M, Sulek A, Sobanska A, Schmitz-Hübsch T, Schöls L, Hengel H, Baliko L, Melegh B, Filla A, Antenora A, Infante J, Berciano J, van de Warrenburg BP, Timmann D, Szymanski S, Boesch S, Kang JS, Pandolfo M, Schulz JB, Molho S, Diallo A, Klockgether T. Jacobi H, et al. Among authors: berciano j. Lancet Neurol. 2015 Nov;14(11):1101-8. doi: 10.1016/S1474-4422(15)00202-1. Epub 2015 Sep 13. Lancet Neurol. 2015. PMID: 26377379
Survival in patients with spinocerebellar ataxia types 1, 2, 3, and 6 (EUROSCA): a longitudinal cohort study.
Diallo A, Jacobi H, Cook A, Labrum R, Durr A, Brice A, Charles P, Marelli C, Mariotti C, Nanetti L, Panzeri M, Rakowicz M, Sobanska A, Sulek A, Schmitz-Hübsch T, Schöls L, Hengel H, Melegh B, Filla A, Antenora A, Infante J, Berciano J, van de Warrenburg BP, Timmann D, Boesch S, Pandolfo M, Schulz JB, Bauer P, Giunti P, Kang JS, Klockgether T, Tezenas du Montcel S. Diallo A, et al. Among authors: berciano j. Lancet Neurol. 2018 Apr;17(4):327-334. doi: 10.1016/S1474-4422(18)30042-5. Epub 2018 Mar 13. Lancet Neurol. 2018. PMID: 29553382
Presentation, diagnosis, and management of multiple system atrophy in Europe: final analysis of the European multiple system atrophy registry.
Köllensperger M, Geser F, Ndayisaba JP, Boesch S, Seppi K, Ostergaard K, Dupont E, Cardozo A, Tolosa E, Abele M, Klockgether T, Yekhlef F, Tison F, Daniels C, Deuschl G, Coelho M, Sampaio C, Bozi M, Quinn N, Schrag A, Mathias CJ, Fowler C, Nilsson CF, Widner H, Schimke N, Oertel W, Del Sorbo F, Albanese A, Pellecchia MT, Barone P, Djaldetti R, Colosimo C, Meco G, Gonzalez-Mandly A, Berciano J, Gurevich T, Giladi N, Galitzky M, Rascol O, Kamm C, Gasser T, Siebert U, Poewe W, Wenning GK; EMSA-SG. Köllensperger M, et al. Among authors: berciano j. Mov Disord. 2010 Nov 15;25(15):2604-12. doi: 10.1002/mds.23192. Mov Disord. 2010. PMID: 20922810
490 results