Gamez J - Search Results

1

Identification and characterization of the novel point mutation m.3634A>G in the mitochondrial MT-ND1 gene associated with LHON syndrome.

Carreño-Gago L, Gamez J, Cámara Y, Alvarez de la Campa E, Aller-Alvarez JS, Moncho D, Salvado M, Galan A, de la Cruz X, Pinós T, García-Arumí E. Carreño-Gago L, et al. Among authors: gamez j. Biochim Biophys Acta Mol Basis Dis. 2017 Jan;1863(1):182-187. doi: 10.1016/j.bbadis.2016.09.002. Epub 2016 Sep 7. Biochim Biophys Acta Mol Basis Dis. 2017. PMID: 27613247 Free article.

2

A novel exon 3 mutation (D76V) in the SOD1 gene associated with slowly progressive ALS.

Segovia-Silvestre T, Andreu AL, Vives-Bauza C, Garcia-Arumi E, Cervera C, Gamez J. Segovia-Silvestre T, et al. Among authors: gamez j. Amyotroph Lateral Scler Other Motor Neuron Disord. 2002 Jun;3(2):69-74. doi: 10.1080/146608202760196039. Amyotroph Lateral Scler Other Motor Neuron Disord. 2002. PMID: 12215228

3

Two novel mutations in the muscle glycogen phosphorylase gene in McArdle's disease.

Gámez J, Rubio JC, Martín MA, Fernández-Cadenas I, Garcia-Arumi E, Andreu AL, Arenas J. Gámez J, et al. Muscle Nerve. 2003 Sep;28(3):380-2. doi: 10.1002/mus.10418. Muscle Nerve. 2003. PMID: 12929201

4

A novel exon 5 mutation (N139H) in the SOD1 gene in a Spanish family associated with incomplete penetrance.

Nogales-Gadea G, Garcia-Arumi E, Andreu AL, Cervera C, Gamez J. Nogales-Gadea G, et al. Among authors: gamez j. J Neurol Sci. 2004 Apr 15;219(1-2):1-6. doi: 10.1016/j.jns.2003.10.018. J Neurol Sci. 2004. PMID: 15050430

5

Mutational analysis of the Cu/Zn superoxide dismutase gene in a Catalan ALS population: should all sporadic ALS cases also be screened for SOD1?

Gamez J, Corbera-Bellalta M, Nogales G, Raguer N, García-Arumí E, Badia-Canto M, Lladó-Carbó E, Alvarez-Sabín J. Gamez J, et al. J Neurol Sci. 2006 Aug 15;247(1):21-8. doi: 10.1016/j.jns.2006.03.006. Epub 2006 May 3. J Neurol Sci. 2006. PMID: 16674979

6

Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene.

Melià MJ, Kubota A, Ortolano S, Vílchez JJ, Gámez J, Tanji K, Bonilla E, Palenzuela L, Fernández-Cadenas I, Pristoupilová A, García-Arumí E, Andreu AL, Navarro C, Hirano M, Martí R. Melià MJ, et al. Among authors: gamez j. Brain. 2013 May;136(Pt 5):1508-17. doi: 10.1093/brain/awt074. Epub 2013 Mar 29. Brain. 2013. PMID: 23543484 Free PMC article.

7

Lithium for treatment of amyotrophic lateral sclerosis: much ado about nothing.

Gamez J, Salvado M, Martínez de la Ossa A, Badia M. Gamez J, et al. Neurologia. 2016 Oct;31(8):550-61. doi: 10.1016/j.nrl.2013.02.001. Epub 2013 Apr 10. Neurologia. 2016. PMID: 23582371 Free article. Review. English, Spanish.

8

CX3CR1 is a modifying gene of survival and progression in amyotrophic lateral sclerosis.

Lopez-Lopez A, Gamez J, Syriani E, Morales M, Salvado M, Rodríguez MJ, Mahy N, Vidal-Taboada JM. Lopez-Lopez A, et al. Among authors: gamez j. PLoS One. 2014 May 7;9(5):e96528. doi: 10.1371/journal.pone.0096528. eCollection 2014. PLoS One. 2014. PMID: 24806473 Free PMC article.

9

PFN1 mutations are also rare in the Catalan population with amyotrophic lateral sclerosis.

Syriani E, Salvans C, Salvadó M, Morales M, Lorenzo L, Cazorla S, Gamez J. Syriani E, et al. Among authors: gamez j. J Neurol. 2014 Dec;261(12):2387-92. doi: 10.1007/s00415-014-7501-x. Epub 2014 Sep 24. J Neurol. 2014. PMID: 25249294

10

UNC13A confers risk for sporadic ALS and influences survival in a Spanish cohort.

Vidal-Taboada JM, Lopez-Lopez A, Salvado M, Lorenzo L, Garcia C, Mahy N, Rodríguez MJ, Gamez J. Vidal-Taboada JM, et al. Among authors: gamez j. J Neurol. 2015 Oct;262(10):2285-92. doi: 10.1007/s00415-015-7843-z. Epub 2015 Jul 11. J Neurol. 2015. PMID: 26162714 Free article.

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