Cabello A - Search Results

1

Mitochondrial dysfunction associated with a mutation in the Notch3 gene in a CADASIL family.

de la Peña P, Bornstein B, del Hoyo P, Fernández-Moreno MA, Martín MA, Campos Y, Gómez-Escalonilla C, Molina JA, Cabello A, Arenas J, Garesse R. de la Peña P, et al. Among authors: cabello a. Neurology. 2001 Oct 9;57(7):1235-8. doi: 10.1212/wnl.57.7.1235. Neurology. 2001. PMID: 11591842

2

Early-onset multisystem mitochondrial disorder caused by a nonsense mutation in the mitochondrial DNA cytochrome C oxidase II gene.

Campos Y, García-Redondo A, Fernández-Moreno MA, Martínez-Pardo M, Goda G, Rubio JC, Martín MA, del Hoyo P, Cabello A, Bornstein B, Garesse R, Arenas J. Campos Y, et al. Among authors: cabello a. Ann Neurol. 2001 Sep;50(3):409-13. doi: 10.1002/ana.1141. Ann Neurol. 2001. PMID: 11558799

3

Myoglobinuria and COX deficiency in a patient taking cerivastatin and gemfibrozil.

Arenas J, Fernández-Moreno MA, Molina JA, Fernández V, del Hoyo P, Campos Y, Calvo P, Martín MA, García A, Moreno T, Martínez-Salio A, Börnstein B, Bermejo F, Cabello A, Garesse R. Arenas J, et al. Among authors: cabello a. Neurology. 2003 Jan 14;60(1):124-6. doi: 10.1212/01.wnl.0000042050.85041.fb. Neurology. 2003. PMID: 12525734

4

Complex I defect in muscle from patients with Huntington's disease.

Arenas J, Campos Y, Ribacoba R, Martín MA, Rubio JC, Ablanedo P, Cabello A. Arenas J, et al. Among authors: cabello a. Ann Neurol. 1998 Mar;43(3):397-400. doi: 10.1002/ana.410430321. Ann Neurol. 1998. PMID: 9506560

5

Clinical and cellular consequences of the mutation m.12300G>A in the mitochondrial tRNA(Leu(CUN)) gene.

Martín-Jiménez R, Martín-Hernández E, Cabello A, García-Silva MT, Arenas J, Campos Y. Martín-Jiménez R, et al. Among authors: cabello a. Mitochondrion. 2012 Mar;12(2):288-93. doi: 10.1016/j.mito.2011.10.004. Epub 2011 Nov 7. Mitochondrion. 2012. PMID: 22094595

6

Novel mutation in the PYGM gene resulting in McArdle disease.

Rubio JC, Lucia A, Fernández-Cadenas I, Cabello A, Blázquez A, Gámez J, Andreu AL, Martín MA, Arenas J. Rubio JC, et al. Among authors: cabello a. Arch Neurol. 2006 Dec;63(12):1782-4. doi: 10.1001/archneur.63.12.1782. Arch Neurol. 2006. PMID: 17172620

7

Mild ocular myopathy associated with a novel mutation in mitochondrial twinkle helicase.

Rivera H, Blázquez A, Carretero J, Alvarez-Cermeño JC, Campos Y, Cabello A, Gonzalez-Vioque E, Borstein B, Garesse R, Arenas J, Martín MA. Rivera H, et al. Among authors: cabello a. Neuromuscul Disord. 2007 Oct;17(9-10):677-80. doi: 10.1016/j.nmd.2007.05.006. Epub 2007 Jul 5. Neuromuscul Disord. 2007. PMID: 17614277

8

Myophosphorylase deficiency associated with a defect in complex I of the mitochondrial respiratory chain.

Rubio JC, Martín MA, Bautista J, Campos Y, Segura D, Cabello A, Chinchón I, Arenas J. Rubio JC, et al. Among authors: cabello a. J Neurol Sci. 1998 Dec 11;161(2):110-3. doi: 10.1016/s0022-510x(98)00263-9. J Neurol Sci. 1998. PMID: 9879690

9

Clinical heterogeneity associated with mitochondrial DNA depletion in muscle.

Campos Y, Martín MA, García-Silva T, del Hoyo P, Rubio JC, Castro-Gago M, García-Peñas J, Casas J, Cabello A, Ricoy JR, Arenas J. Campos Y, et al. Among authors: cabello a. Neuromuscul Disord. 1998 Dec;8(8):568-73. doi: 10.1016/s0960-8966(98)00080-7. Neuromuscul Disord. 1998. PMID: 10093063

10

McArdle's disease associated with homozygosity for the missense mutation Gly204Ser of the myophosphorylase gene in a Spanish patient.

Rubio JC, Martín MA, García A, Campos Y, Cabello A, Culebras JM, Arenas J. Rubio JC, et al. Among authors: cabello a. Neuromuscul Disord. 1999 May;9(3):174-5. doi: 10.1016/s0960-8966(98)00127-8. Neuromuscul Disord. 1999. PMID: 10382912

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