Cabello A - Search Results

1

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

2

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

3

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

4

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

5

Molecular heterogeneity of myophosphorylase deficiency (McArdle's disease): a genotype-phenotype correlation study.

Martín MA, Rubio JC, Buchbinder J, Fernández-Hojas R, del Hoyo P, Teijeira S, Gámez J, Navarro C, Fernández JM, Cabello A, Campos Y, Cervera C, Culebras JM, Andreu AL, Fletterick R, Arenas J. Martín MA, et al. Among authors: cabello a. Ann Neurol. 2001 Nov;50(5):574-81. Ann Neurol. 2001. PMID: 11706962

6

Respiratory chain enzyme defects in patients with idiopathic inflammatory myopathy.

Campos Y, Arenas J, Cabello A, Gomez-Reino JJ. Campos Y, et al. Among authors: cabello a. Ann Rheum Dis. 1995 Jun;54(6):491-3. doi: 10.1136/ard.54.6.491. Ann Rheum Dis. 1995. PMID: 7632092 Free PMC article.

7

Multiple deletions of mitochondrial DNA in muscle from a patient with benign progressive external ophthalmoplegia.

Campos Y, Martín MA, Rubio JC, Ricard C, Cabello A, Arenas J. Campos Y, et al. Among authors: cabello a. J Inherit Metab Dis. 1996;19(3):366-7. doi: 10.1007/BF01799268. J Inherit Metab Dis. 1996. PMID: 8803781 No abstract available.

8

Lack of gastrointestinal symptoms in a 60-year-old patient with MNGIE.

Martín MA, Blázquez A, Martí R, Bautista J, Lara MC, Cabello A, Campos Y, Belda O, Andreu AL, Arenas J. Martín MA, et al. Among authors: cabello a. Neurology. 2004 Oct 26;63(8):1536-7. doi: 10.1212/01.wnl.0000141857.37073.97. Neurology. 2004. PMID: 15505189 No abstract available.

9

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

10

A proposed molecular diagnostic flowchart for myophosphorylase deficiency (McArdle disease) in blood samples from Spanish patients.

Rubio JC, Garcia-Consuegra I, Nogales-Gadea G, Blazquez A, Cabello A, Lucia A, Andreu AL, Arenas J, Martin MA. Rubio JC, et al. Among authors: cabello a. Hum Mutat. 2007 Feb;28(2):203-4. doi: 10.1002/humu.9474. Hum Mutat. 2007. PMID: 17221871

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