Gómez-Garre P - Search Results

1

[Lafora disease. A new case of confirmation of diagnosis on molecular genetic studies].

Martínez-Bermejo A, López-Martín V, Serratosa JM, Gutiérrez-Molina M, Gómez-Garre P, Arcas J, Tendero A, Roche C, Pérez-Mies B. Martínez-Bermejo A, et al. Rev Neurol. 2002 Jan 16-31;34(2):117-20. Rev Neurol. 2002. PMID: 11988905 Free article. Spanish.

2

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, Tu… See abstract for full author list ➔ Vollstedt EJ, et al. Among authors: gomez garre p. Mov Disord. 2023 Feb;38(2):286-303. doi: 10.1002/mds.29288. Epub 2023 Jan 24. Mov Disord. 2023. PMID: 36692014

3

Transcriptomic analysis reveals an association of FCGBP with Parkinson's disease.

Gómez-Garre P, Periñán MT, Jesús S, Bacalini MG, Garagnani P, Mollenhauer B, Pirazzini C, Provini F, Trenkwalder C, Franceschi C, Mir P; PROPAG-AGEING consortium. Gómez-Garre P, et al. NPJ Parkinsons Dis. 2022 Nov 12;8(1):157. doi: 10.1038/s41531-022-00415-7. NPJ Parkinsons Dis. 2022. PMID: 36371440 Free PMC article.

4

Peripheral inflammatory immune response differs among sporadic and familial Parkinson's disease.

Muñoz-Delgado L, Macías-García D, Periñán MT, Jesús S, Adarmes-Gómez AD, Bonilla Toribio M, Buiza Rueda D, Jiménez-Jaraba MDV, Benítez Zamora B, Díaz Belloso R, García-Díaz S, Martín-Bórnez M, Pineda Sánchez R, Carrillo F, Gómez-Garre P, Mir P. Muñoz-Delgado L, et al. Among authors: gomez garre p. NPJ Parkinsons Dis. 2023 Jan 31;9(1):12. doi: 10.1038/s41531-023-00457-5. NPJ Parkinsons Dis. 2023. PMID: 36720879 Free PMC article.

5

Moving beyond neurons: the role of cell type-specific gene regulation in Parkinson's disease heritability.

Reynolds RH, Botía J, Nalls MA; International Parkinson’s Disease Genomics Consortium (IPDGC); System Genomics of Parkinson’s Disease (SGPD); Hardy J, Gagliano Taliun SA, Ryten M. Reynolds RH, et al. NPJ Parkinsons Dis. 2019 Apr 17;5:6. doi: 10.1038/s41531-019-0076-6. eCollection 2019. NPJ Parkinsons Dis. 2019. PMID: 31016231 Free PMC article.

6

Cumulative Genetic Score and C9orf72 Repeat Status Independently Contribute to Amyotrophic Lateral Sclerosis Risk in 2 Case-Control Studies.

Dou J, Bakulski K, Guo K, Hur J, Zhao L, Saez-Atienzar S, Stark A, Chia R, García-Redondo A, Rojas-Garcia R, Vázquez Costa JF, Fernandez Santiago R, Bandres-Ciga S, Gómez-Garre P, Periñán MT, Mir P, Pérez-Tur J, Cardona F, Menendez-Gonzalez M, Riancho J, Borrego-Hernández D, Galán-Dávila L, Infante Ceberio J, Pastor P, Paradas C, Dols-Icardo O, Traynor BJ, Feldman EL, Goutman SA; Spanish Neurological Consortium. Dou J, et al. Among authors: gomez garre p. Neurol Genet. 2023 May 31;9(4):e200079. doi: 10.1212/NXG.0000000000200079. eCollection 2023 Aug. Neurol Genet. 2023. PMID: 37293291 Free PMC article.

7

A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2).

Serratosa JM, Gómez-Garre P, Gallardo ME, Anta B, de Bernabé DB, Lindhout D, Augustijn PB, Tassinari CA, Malafosse RM, Topcu M, Grid D, Dravet C, Berkovic SF, de Córdoba SR. Serratosa JM, et al. Hum Mol Genet. 1999 Feb;8(2):345-52. doi: 10.1093/hmg/8.2.345. Hum Mol Genet. 1999. PMID: 9931343

8

Mutational spectrum of the EPM2A gene in progressive myoclonus epilepsy of Lafora: high degree of allelic heterogeneity and prevalence of deletions.

Gómez-Garre P, Sanz Y, Rodríguez De Córdoba SR, Serratosa JM. Gómez-Garre P, et al. Eur J Hum Genet. 2000 Dec;8(12):946-54. doi: 10.1038/sj.ejhg.5200571. Eur J Hum Genet. 2000. PMID: 11175283

9

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

10

Characterization of a 6p21 translocation breakpoint in a family with idiopathic generalized epilepsy.

Sáez-Hernández L, Peral B, Sanz R, Gómez-Garre P, Ramos C, Ayuso C, Serratosa JM. Sáez-Hernández L, et al. Epilepsy Res. 2003 Oct;56(2-3):155-63. doi: 10.1016/j.eplepsyres.2003.09.002. Epilepsy Res. 2003. PMID: 14643000

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