Cabello A - Search Results

1

Bilateral striatal necrosis and MELAS associated with a new T3308C mutation in the mitochondrial ND1 gene.

Campos Y, Martín MA, Rubio JC, Gutiérrez del Olmo MC, Cabello A, Arenas J. Campos Y, et al. Among authors: cabello a. Biochem Biophys Res Commun. 1997 Sep 18;238(2):323-5. doi: 10.1006/bbrc.1997.7166. Biochem Biophys Res Commun. 1997. PMID: 9299504

2

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

3

A missense mutation W797R in the myophosphorylase gene in a Spanish patient with McArdle's disease.

Rubio JC, Martín MA, Campos Y, Auciello R, Cabello A, Arenas J. Rubio JC, et al. Among authors: cabello a. Muscle Nerve. 2000 Jan;23(1):129-31. doi: 10.1002/(sici)1097-4598(200001)23:1<129::aid-mus20>3.0.co;2-f. Muscle Nerve. 2000. PMID: 10590419

4

A homozygous missense mutation (A659D) in the myophosphorylase gene in a Spanish patient with McArdle's disease.

Martín MA, Rubio JC, Campos Y, Ricoy JR, Cabello A, Arenas J. Martín MA, et al. Among authors: cabello a. Neuromuscul Disord. 2000 Aug;10(6):447-9. doi: 10.1016/s0960-8966(99)00124-8. Neuromuscul Disord. 2000. PMID: 10899452

5

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

6

Two pathogenic mutations in the mitochondrial DNA tRNA Leu(UUR) gene (T3258C and A3280G) resulting in variable clinical phenotypes.

Campos Y, García A, del Hoyo P, Jara P, Martín MA, Rubio JC, Berbel A, Barberá JR, Ribacoba R, Astudillo A, Cabello A, Ricoy JR, Arenas J. Campos Y, et al. Among authors: cabello a. Neuromuscul Disord. 2003 Jun;13(5):416-20. doi: 10.1016/s0960-8966(03)00039-7. Neuromuscul Disord. 2003. PMID: 12798797

7

A novel mutation in the mitochondrial DNA tRNA Leu (UUR) gene associated with late-onset ocular myopathy.

Maeso E, Rueda A, Jiménez S, Del Hoyo P, Martín R, Cabello A, Mendoza LM, Arenas J, Campos Y. Maeso E, et al. Among authors: cabello a. Neuromuscul Disord. 2007 May;17(5):415-8. doi: 10.1016/j.nmd.2007.01.015. Epub 2007 Mar 23. Neuromuscul Disord. 2007. PMID: 17363246

8

Mitochondrial DNA deletion in a patient with mitochondrial myopathy, lactic acidosis, and stroke-like episodes (MELAS) and Fanconi's syndrome.

Campos Y, Garcia-Silva T, Barrionuevo CR, Cabello A, Muley R, Arenas J. Campos Y, et al. Among authors: cabello a. Pediatr Neurol. 1995 Jul;13(1):69-72. doi: 10.1016/0887-8994(95)00082-q. Pediatr Neurol. 1995. PMID: 7575854

9

Clinical heterogeneity in two pedigrees with the 3243 bp tRNA(Leu(UUR)) mutation of mitochondrial DNA.

Campos Y, Bautista J, Gutiérrez-Rivas E, Chinchón D, Cabello A, Segura D, Arenas J. Campos Y, et al. Among authors: cabello a. Acta Neurol Scand. 1995 Jan;91(1):62-5. doi: 10.1111/j.1600-0404.1995.tb05845.x. Acta Neurol Scand. 1995. PMID: 7732778

10

Sporadic MERRF/MELAS overlap syndrome associated with the 3243 tRNA(Leu(UUR)) mutation of mitochondrial DNA.

Campos Y, Martin MA, Lorenzo G, Aparicio M, Cabello A, Arenas J. Campos Y, et al. Among authors: cabello a. Muscle Nerve. 1996 Feb;19(2):187-90. doi: 10.1002/(SICI)1097-4598(199602)19:2<187::AID-MUS10>3.0.CO;2-S. Muscle Nerve. 1996. PMID: 8559168

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