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Page 1
Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort.
Vollstedt EJ, Schaake S, Lohmann K, Padmanabhan S, Brice A, Lesage S, Tesson C, Vidailhet M, Wurster I, Hentati F, Mirelman A, Giladi N, Marder K, Waters C, Fahn S, Kasten M, Brüggemann N, Borsche M, Foroud T, Tolosa E, Garrido A, Annesi G, Gagliardi M, Bozi M, Stefanis L, Ferreira JJ, Correia Guedes L, Avenali M, Petrucci S, Clark L, Fedotova EY, Abramycheva NY, Alvarez V, Menéndez-González M, Jesús Maestre S, Gómez-Garre P, Mir P, Belin AC, Ran C, Lin CH, Kuo MC, Crosiers D, Wszolek ZK, Ross OA, Jankovic J, Nishioka K, Funayama M, Clarimon J, Williams-Gray CH, Camacho M, Cornejo-Olivas M, Torres-Ramirez L, Wu YR, Lee-Chen GJ, Morgadinho A, Pulkes T, Termsarasab P, Berg D, Kuhlenbäumer G, Kühn AA, Borngräber F, de Michele G, De Rosa A, Zimprich A, Puschmann A, Mellick GD, Dorszewska J, Carr J, Ferese R, Gambardella S, Chase B, Markopoulou K, Satake W, Toda T, Rossi M, Merello M, Lynch T, Olszewska DA, Lim SY, Ahmad-Annuar A, Tan AH, Al-Mubarak B, Hanagasi H, Koziorowski D, Ertan S, Genç G, de Carvalho Aguiar P, Barkhuizen M, Pimentel MMG, Saunders-Pullman R, van de Warrenburg B, Bressman S, Toft M, Appel-Cresswell S, Lang AE, Skorvanek M, Boon AJW, Krüger R, Sammler EM, Tumas V, … See abstract for full author list ➔ Vollstedt EJ, et al. Mov Disord. 2023 Feb;38(2):286-303. doi: 10.1002/mds.29288. Epub 2023 Jan 24. Mov Disord. 2023. PMID: 36692014 Free article.
Gene symbol: EPM2A.
Trujillo-Tiebas MJ, Gómez-garré P, Arguirre-Lambán J, Lorda-Sánchez I, Serratosa JM, Ayuso C. Trujillo-Tiebas MJ, et al. Hum Genet. 2007 Apr;121(2):289-90. Hum Genet. 2007. PMID: 17598229 No abstract available.
Laforin, the dual-phosphatase responsible for Lafora disease, interacts with R5 (PTG), a regulatory subunit of protein phosphatase-1 that enhances glycogen accumulation.
Fernández-Sánchez ME, Criado-García O, Heath KE, García-Fojeda B, Medraño-Fernández I, Gomez-Garre P, Sanz P, Serratosa JM, Rodríguez de Córdoba S. Fernández-Sánchez ME, et al. Hum Mol Genet. 2003 Dec 1;12(23):3161-71. doi: 10.1093/hmg/ddg340. Epub 2003 Oct 7. Hum Mol Genet. 2003. PMID: 14532330
Vitamin D levels in children and adolescents with chronic tic disorders: a multicentre study.
Bond M, Moll N, Rosello A, Bond R, Schnell J, Burger B, Hoekstra PJ, Dietrich A, Schrag A, Kocovska E, Martino D, Mueller N, Schwarz M, Meier UC; EMTICS Collaborative Group. Bond M, et al. Eur Child Adolesc Psychiatry. 2022 Aug;31(8):1-12. doi: 10.1007/s00787-021-01757-y. Epub 2021 Apr 13. Eur Child Adolesc Psychiatry. 2022. PMID: 33851280 Free PMC article.
Gene symbol: EPM2A.
Trujillo-Tiebas MJ, Gómez-Garré P, Pérez-González N, Lorda-Sánchez I, Serratosa JM, Ayuso C. Trujillo-Tiebas MJ, et al. Hum Genet. 2007 Apr;121(2):290. Hum Genet. 2007. PMID: 17598230 No abstract available.
Genetic linkage of autosomal dominant progressive supranuclear palsy to 1q31.1.
Ros R, Gómez Garre P, Hirano M, Tai YF, Ampuero I, Vidal L, Rojo A, Fontan A, Vazquez A, Fanjul S, Hernandez J, Cantarero S, Hoenicka J, Jones A, Ahsan RL, Pavese N, Piccini P, Brooks DJ, Perez-Tur J, Nyggard T, de Yébenes JG. Ros R, et al. Ann Neurol. 2005 May;57(5):634-41. doi: 10.1002/ana.20449. Ann Neurol. 2005. PMID: 15852377
Familial partial epilepsy with variable foci: clinical features and linkage to chromosome 22q12.
Berkovic SF, Serratosa JM, Phillips HA, Xiong L, Andermann E, Díaz-Otero F, Gómez-Garre P, Martín M, Fernández-Bullido Y, Andermann F, Lopes-Cendes I, Dubeau F, Desbiens R, Scheffer IE, Wallace RH, Mulley JC, Pandolfo M. Berkovic SF, et al. Epilepsia. 2004 Sep;45(9):1054-60. doi: 10.1111/j.0013-9580.2004.30502.x. Epilepsia. 2004. PMID: 15329069 Free article.
Variability of age at onset in siblings with familial Alzheimer disease.
Gómez-Tortosa E, Barquero MS, Barón M, Sainz MJ, Manzano S, Payno M, Ros R, Almaraz C, Gómez-Garré P, Jiménez-Escrig A. Gómez-Tortosa E, et al. Arch Neurol. 2007 Dec;64(12):1743-8. doi: 10.1001/archneur.64.12.1743. Arch Neurol. 2007. PMID: 18071037
97 results