Serratosa JM - Search Results

1

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. Among authors: serratosa jm. Eur J Hum Genet. 2000 Dec;8(12):946-54. doi: 10.1038/sj.ejhg.5200571. Eur J Hum Genet. 2000. PMID: 11175283

2

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

3

The molecular genetic bases of the progressive myoclonus epilepsies.

Serratosa JM, Gardiner RM, Lehesjoki AE, Pennacchio LA, Myers RM. Serratosa JM, et al. Adv Neurol. 1999;79:383-98. Adv Neurol. 1999. PMID: 10514828 Review.

4

[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. Among authors: serratosa jm. Rev Neurol. 2002 Jan 16-31;34(2):117-20. Rev Neurol. 2002. PMID: 11988905 Free article. Spanish.

5

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. Among authors: serratosa jm. 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

6

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. Among authors: serratosa jm. Epilepsy Res. 2003 Oct;56(2-3):155-63. doi: 10.1016/j.eplepsyres.2003.09.002. Epilepsy Res. 2003. PMID: 14643000

7

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. Among authors: serratosa jm. Epilepsia. 2004 Sep;45(9):1054-60. doi: 10.1111/j.0013-9580.2004.30502.x. Epilepsia. 2004. PMID: 15329069 Free article.

8

Lafora disease due to EPM2B mutations: a clinical and genetic study.

Gómez-Abad C, Gómez-Garre P, Gutiérrez-Delicado E, Saygi S, Michelucci R, Tassinari CA, Rodríguez de Córdoba S, Serratosa JM. Gómez-Abad C, et al. Among authors: serratosa jm. Neurology. 2005 Mar 22;64(6):982-6. doi: 10.1212/01.WNL.0000154519.10805.F7. Neurology. 2005. PMID: 15781812 Free article.

9

Ehlers-Danlos syndrome and periventricular nodular heterotopia in a Spanish family with a single FLNA mutation.

Gómez-Garre P, Seijo M, Gutiérrez-Delicado E, Castro del Río M, de la Torre C, Gómez-Abad C, Morales-Corraliza J, Puig M, Serratosa JM. Gómez-Garre P, et al. Among authors: serratosa jm. J Med Genet. 2006 Mar;43(3):232-7. doi: 10.1136/jmg.2004.029173. Epub 2005 Jul 1. J Med Genet. 2006. PMID: 15994863 Free PMC article.

10

Gene symbol: FLNA. Disease: Ehlers-Danlos syndrome and periventricular nodular heterotopia.

Gomez-Garre P, Serratosa JM. Gomez-Garre P, et al. Among authors: serratosa jm. Hum Genet. 2005 Dec;118(3-4):545. Hum Genet. 2005. PMID: 16521297 No abstract available.

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