Serratosa JM - Search Results

1

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

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

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

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

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

6

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.

7

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.

8

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.

9

MRI volumetry and proton MR spectroscopy of the brain in Lafora disease.

Villanueva V, Alvarez-Linera J, Gómez-Garre P, Gutiérrez J, Serratosa JM. Villanueva V, et al. Among authors: serratosa jm. Epilepsia. 2006 Apr;47(4):788-92. doi: 10.1111/j.1528-1167.2006.00526.x. Epilepsia. 2006. PMID: 16650146 Free article.

10

Hepatic disease as the first manifestation of progressive myoclonus epilepsy of Lafora.

Gómez-Garre P, Gutiérrez-Delicado E, Gómez-Abad C, Morales-Corraliza J, Villanueva VE, Rodríguez de Córdoba S, Larrauri J, Gutiérrez M, Berciano J, Serratosa JM. Gómez-Garre P, et al. Among authors: serratosa jm. Neurology. 2007 Apr 24;68(17):1369-73. doi: 10.1212/01.wnl.0000260061.37559.67. Neurology. 2007. PMID: 17452581 Free article.

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