Andreu AL - Search Results

1

Leigh syndrome associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFS1 gene.

Martín MA, Blázquez A, Gutierrez-Solana LG, Fernández-Moreira D, Briones P, Andreu AL, Garesse R, Campos Y, Arenas J. Martín MA, et al. Among authors: andreu al. Arch Neurol. 2005 Apr;62(4):659-61. doi: 10.1001/archneur.62.4.659. Arch Neurol. 2005. PMID: 15824269

2

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: andreu al. Arch Neurol. 2006 Dec;63(12):1782-4. doi: 10.1001/archneur.63.12.1782. Arch Neurol. 2006. PMID: 17172620

3

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

4

Increased muscle nucleoside levels associated with a novel frameshift mutation in the thymidine phosphorylase gene in a Spanish patient with MNGIE.

Blazquez A, Martín MA, Lara MC, Martí R, Campos Y, Cabello A, Garesse R, Bautista J, Andreu AL, Arenas J. Blazquez A, et al. Among authors: andreu al. Neuromuscul Disord. 2005 Nov;15(11):775-8. doi: 10.1016/j.nmd.2005.07.008. Epub 2005 Sep 28. Neuromuscul Disord. 2005. PMID: 16198108

5

Two novel mutations in the muscle glycogen phosphorylase gene in McArdle's disease.

Gámez J, Rubio JC, Martín MA, Fernández-Cadenas I, Garcia-Arumi E, Andreu AL, Arenas J. Gámez J, et al. Among authors: andreu al. Muscle Nerve. 2003 Sep;28(3):380-2. doi: 10.1002/mus.10418. Muscle Nerve. 2003. PMID: 12929201

6

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: andreu al. Hum Mutat. 2007 Feb;28(2):203-4. doi: 10.1002/humu.9474. Hum Mutat. 2007. PMID: 17221871

7

Exercise capacity in a child with McArdle disease.

Pérez M, Maté-Muñoz JL, Foster C, Rubio JC, Andreu AL, Martín MA, Arenas J, Lucia A. Pérez M, et al. Among authors: andreu al. J Child Neurol. 2007 Jul;22(7):880-2. doi: 10.1177/0883073807304206. J Child Neurol. 2007. PMID: 17715283

8

Marked mitochondrial DNA depletion associated with a novel SUCLG1 gene mutation resulting in lethal neonatal acidosis, multi-organ failure, and interrupted aortic arch.

Rivera H, Merinero B, Martinez-Pardo M, Arroyo I, Ruiz-Sala P, Bornstein B, Serra-Suhe C, Gallardo E, Marti R, Moran MJ, Ugalde C, Perez-Jurado LA, Andreu AL, Garesse R, Ugarte M, Arenas J, Martin MA. Rivera H, et al. Among authors: andreu al. Mitochondrion. 2010 Jun;10(4):362-8. doi: 10.1016/j.mito.2010.03.003. Epub 2010 Mar 19. Mitochondrion. 2010. PMID: 20227526

9

A new mtDNA mutation in the tRNA(Leu(UUR)) gene associated with ocular myopathy.

Campos Y, Gámez J, García A, Andreu AL, Rubio JC, Martín MA, del Hoyo P, Navarro C, Cervera C, Garesse R, Arenas J. Campos Y, et al. Among authors: andreu al. Neuromuscul Disord. 2001 Jul;11(5):477-80. doi: 10.1016/s0960-8966(00)00223-6. Neuromuscul Disord. 2001. PMID: 11404120

10

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: andreu al. Ann Neurol. 2001 Nov;50(5):574-81. Ann Neurol. 2001. PMID: 11706962

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