Gámez J - Search Results

1

Does ALS-FUS without FUS mutation represent ALS-FET? Report of three cases.

Borrego-Écija S, Cortés-Vicente E, Cervera-Carles L, Clarimón J, Gámez J, Batlle J, Ricken G, Molina-Porcel L, Aldecoa I, Sánchez-Valle R, Rojas-García R, Gelpi E. Borrego-Écija S, et al. Among authors: gamez j. Neuropathol Appl Neurobiol. 2019 Jun;45(4):421-426. doi: 10.1111/nan.12527. Epub 2018 Nov 20. Neuropathol Appl Neurobiol. 2019. PMID: 30375034 Free PMC article. Review. No abstract available.

2

SMN2 copy number predicts acute or chronic spinal muscular atrophy but does not account for intrafamilial variability in siblings.

Cuscó I, Barceló MJ, Rojas-García R, Illa I, Gámez J, Cervera C, Pou A, Izquierdo G, Baiget M, Tizzano EF. Cuscó I, et al. Among authors: gamez j. J Neurol. 2006 Jan;253(1):21-5. doi: 10.1007/s00415-005-0912-y. Epub 2005 Jun 28. J Neurol. 2006. PMID: 15981080

3

FUS/TLS gene mutations are the second most frequent cause of familial ALS in the Spanish population.

Syriani E, Morales M, Gamez J. Syriani E, et al. Among authors: gamez j. Amyotroph Lateral Scler. 2011 Mar;12(2):118-23. doi: 10.3109/17482968.2010.539235. Epub 2010 Dec 6. Amyotroph Lateral Scler. 2011. PMID: 21128870

4

Variably protease-sensitive prionopathy presenting within ALS/FTD spectrum.

Vicente-Pascual M, Rossi M, Gámez J, Lladó A, Valls J, Grau-Rivera O, Ávila Polo R, Llorens F, Zerr I, Ferrer I, Nos C, Parchi P, Sánchez-Valle R, Gelpí E. Vicente-Pascual M, et al. Among authors: gamez j. Ann Clin Transl Neurol. 2018 Sep 21;5(10):1297-1302. doi: 10.1002/acn3.632. eCollection 2018 Oct. Ann Clin Transl Neurol. 2018. PMID: 30349865 Free PMC article.

5

Transthyretin stabilization activity of the catechol-O-methyltransferase inhibitor tolcapone (SOM0226) in hereditary ATTR amyloidosis patients and asymptomatic carriers: proof-of-concept study.

Gamez J, Salvadó M, Reig N, Suñé P, Casasnovas C, Rojas-Garcia R, Insa R. Gamez J, et al. Amyloid. 2019 Jun;26(2):74-84. doi: 10.1080/13506129.2019.1597702. Epub 2019 May 23. Amyloid. 2019. PMID: 31119947 Clinical Trial.

6

Cognitive decline in amyotrophic lateral sclerosis: Neuropathological substrate and genetic determinants.

Borrego-Écija S, Turon-Sans J, Ximelis T, Aldecoa I, Molina-Porcel L, Povedano M, Rubio MA, Gámez J, Cano A, Paré-Curell M, Bajo L, Sotoca J, Clarimón J, Balasa M, Antonell A, Lladó A, Sánchez-Valle R, Rojas-García R, Gelpi E. Borrego-Écija S, et al. Among authors: gamez j. Brain Pathol. 2021 May;31(3):e12942. doi: 10.1111/bpa.12942. Epub 2021 Feb 12. Brain Pathol. 2021. PMID: 33576076 Free PMC article.

7

Clinicopathological correlates in frontotemporal lobar degeneration: motor neuron disease spectrum.

Carbayo Á, Borrego-Écija S, Turon-Sans J, Cortés-Vicente E, Molina-Porcel L, Gascón-Bayarri J, Rubio MÁ, Povedano M, Gámez J, Sotoca J, Juntas-Morales R, Almendrote M, Marquié M, Sánchez-Valle R, Illán-Gala I, Dols-Icardo O, Rubio-Guerra S, Bernal S, Caballero-Ávila M, Vesperinas A, Gelpi E, Rojas-García R. Carbayo Á, et al. Among authors: gamez j. Brain. 2024 Jan 16:awae011. doi: 10.1093/brain/awae011. Online ahead of print. Brain. 2024. PMID: 38227807

8

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

9

Survival and respiratory decline are not related to homozygous SMN2 deletions in ALS patients.

Gamez J, Barceló MJ, Muñoz X, Carmona F, Cuscó I, Baiget M, Cervera C, Tizzano EF. Gamez J, et al. Neurology. 2002 Nov 12;59(9):1456-60. doi: 10.1212/01.wnl.0000032496.64510.4e. Neurology. 2002. PMID: 12427907

10

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

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