Cuscó I - Search Results

1

Beyond the disease itself: A cross-cutting educational initiative for patients and families with rare diseases.

Rovira-Moreno E, Abuli A, Codina-Sola M, Valenzuela I, Serra-Juhe C, Cuscó I, Borregán M, Cueto-González A, Vendrell T, López-Grondona F, Brun-Gasca C, Brignani E, Martínez-Ribot L, Garci-Espejo R, Cruz J, García-Arumí E, Tizzano EF. Rovira-Moreno E, et al. Among authors: cusco i. J Genet Couns. 2021 Jun;30(3):693-700. doi: 10.1002/jgc4.1354. Epub 2020 Nov 3. J Genet Couns. 2021. PMID: 33142000

2

Identification of a pathogenic mutation in ARPP21 in patients with amyotrophic lateral sclerosis.

Dols-Icardo O, Carbayo Á, Jericó I, Blasco-Martínez O, Álvarez-Sánchez E, López Pérez MA, Bernal S, Rodríguez-Santiago B, Cusco I, Turon-Sans J, Cabezas-Torres M, Caballero-Ávila M, Vesperinas A, Llansó L, Pagola-Lorz I, Torné L, Valle-Tamayo N, Muñoz L, Rubio-Guerra S, Illán-Gala I, Cortés-Vicente E, Gelpi E, Rojas-García R. Dols-Icardo O, et al. Among authors: cusco i. J Neurol Neurosurg Psychiatry. 2025 Jan 16;96(2):132-139. doi: 10.1136/jnnp-2024-333834. J Neurol Neurosurg Psychiatry. 2025. PMID: 38960585 Free PMC article.

3

Should gamete donors be tested for spinal muscular atrophy?

Tizzano EF, Cuscó I, Barceló MJ, Parra J, Baiget M. Tizzano EF, et al. Among authors: cusco i. Fertil Steril. 2002 Feb;77(2):409-11. doi: 10.1016/s0015-0282(01)02994-6. Fertil Steril. 2002. PMID: 11821106 Free article.

4

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. Among authors: cusco i. Neurology. 2002 Nov 12;59(9):1456-60. doi: 10.1212/01.wnl.0000032496.64510.4e. Neurology. 2002. PMID: 12427907

5

Implementation of SMA carrier testing in genetic laboratories: comparison of two methods for quantifying the SMN1 gene.

Cuscó I, Barceló MJ, Baiget M, Tizzano EF. Cuscó I, et al. Hum Mutat. 2002 Dec;20(6):452-9. doi: 10.1002/humu.10144. Hum Mutat. 2002. PMID: 12442269

6

Prenatal diagnosis for risk of spinal muscular atrophy.

Cuscó I, Barceló MJ, Soler C, Parra J, Baiget M, Tizzano E. Cuscó I, et al. BJOG. 2002 Nov;109(11):1244-9. BJOG. 2002. PMID: 12452462

7

A genetic and phenotypic analysis in Spanish spinal muscular atrophy patients with c.399_402del AGAG, the most frequently found subtle mutation in the SMN1 gene.

Cuscó I, López E, Soler-Botija C, Jesús Barceló M, Baiget M, Tizzano EF. Cuscó I, et al. Hum Mutat. 2003 Aug;22(2):136-43. doi: 10.1002/humu.10245. Hum Mutat. 2003. PMID: 12872254

8

Detection of novel mutations in the SMN Tudor domain in type I SMA patients.

Cuscó I, Barceló MJ, del Río E, Baiget M, Tizzano EF. Cuscó I, et al. Neurology. 2004 Jul 13;63(1):146-9. doi: 10.1212/01.wnl.0000132634.48815.13. Neurology. 2004. PMID: 15249625

9

Choline acetyltransferase expression does not identify early pathogenic events in fetal SMA spinal cord.

Soler-Botija C, Cuscó I, López E, Clua A, Gich I, Baiget M, Ferrer I, Tizzano EF. Soler-Botija C, et al. Among authors: cusco i. Neuromuscul Disord. 2005 Mar;15(3):253-8. doi: 10.1016/j.nmd.2004.11.006. Epub 2005 Jan 28. Neuromuscul Disord. 2005. PMID: 15725587

10

Implication of fetal SMN2 expression in type I SMA pathogenesis: protection or pathological gain of function?

Soler-Botija C, Cuscó I, Caselles L, López E, Baiget M, Tizzano EF. Soler-Botija C, et al. Among authors: cusco i. J Neuropathol Exp Neurol. 2005 Mar;64(3):215-23. doi: 10.1093/jnen/64.3.215. J Neuropathol Exp Neurol. 2005. PMID: 15804053

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