Martín MA - Search Results

1

Cardiac dysfunction in mitochondrial disease. Clinical and molecular features.

Villar P, Bretón B, García-Pavía P, González-Páramos C, Blázquez A, Gómez-Bueno M, García-Silva T, García-Consuegra I, Martín MA, Garesse R, Bornstein B, Gallardo ME. Villar P, et al. Among authors: martin ma. Circ J. 2013;77(11):2799-806. doi: 10.1253/circj.cj-13-0557. Epub 2013 Aug 20. Circ J. 2013. PMID: 23965802 Free article.

2

A double mutation (A8296G and G8363A) in the mitochondrial DNA tRNA (Lys) gene associated with myoclonus epilepsy with ragged-red fibers.

Arenas J, Campos Y, Bornstein B, Ribacoba R, Martín MA, Rubio JC, Santorelli FM, Zeviani M, DiMauro S, Garesse R. Arenas J, et al. Among authors: martin ma. Neurology. 1999 Jan 15;52(2):377-82. doi: 10.1212/wnl.52.2.377. Neurology. 1999. PMID: 9932960

3

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: martin ma. Neuromuscul Disord. 1998 Dec;8(8):568-73. doi: 10.1016/s0960-8966(98)00080-7. Neuromuscul Disord. 1998. PMID: 10093063

4

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: martin ma. Ann Neurol. 2001 Sep;50(3):409-13. doi: 10.1002/ana.1141. Ann Neurol. 2001. PMID: 11558799

5

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: martin ma. Neurology. 2001 Oct 9;57(7):1235-8. doi: 10.1212/wnl.57.7.1235. Neurology. 2001. PMID: 11591842

6

The A8296G mtDNA mutation associated with several mitochondrial diseases does not cause mitochondrial dysfunction in cybrid cell lines.

Bornstein B, Mas JA, Fernández-Moreno MA, Campos Y, Martín MA, del Hoyo P, Rubio JC, Arenas J, Garesse R. Bornstein B, et al. Among authors: martin ma. Hum Mutat. 2002 Mar;19(3):234-9. doi: 10.1002/humu.10050. Hum Mutat. 2002. PMID: 11857739

7

[Molecular genetics of disorders of the mitochondrial respiratory chain].

Campos Y, Martín MA, Arenas J. Campos Y, et al. Among authors: martin ma. Rev Neurol. 2002 Jul 16-31;35(2):153-8. Rev Neurol. 2002. PMID: 12221629 Free article. Review. Spanish.

8

Molecular analysis of myophosphorylase deficiency in Dutch patients with McArdle's disease.

Martín MA, Rubio JC, Wevers RA, Van Engelen BG, Steenbergen GC, Van Diggelen OP, De Visser M, De Die-Smulders C, Blázquez A, Andreu AL, Arenas J. Martín MA, et al. Ann Hum Genet. 2004 Jan;68(Pt 1):17-22. doi: 10.1046/j.1529-8817.2003.00067.x. Ann Hum Genet. 2004. PMID: 14748827

9

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. Neurology. 2004 Oct 26;63(8):1536-7. doi: 10.1212/01.wnl.0000141857.37073.97. Neurology. 2004. PMID: 15505189 No abstract available.

10

Comparative analysis of the pathogenic mechanisms associated with the G8363A and A8296G mutations in the mitochondrial tRNA(Lys) gene.

Bornstein B, Mas JA, Patrono C, Fernández-Moreno MA, González-Vioque E, Campos Y, Carrozzo R, Martín MA, del Hoyo P, Santorelli FM, Arenas J, Garesse R. Bornstein B, et al. Among authors: martin ma. Biochem J. 2005 May 1;387(Pt 3):773-8. doi: 10.1042/BJ20040949. Biochem J. 2005. PMID: 15554876 Free PMC article.

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