Blázquez A - Search Results

1

A Novel Mutation Associated with Neonatal Lethal Cardiomyopathy Leads to an Alternative Transcript Expression in the X-Linked Complex I NDUFB11 Gene.

Amate-García G, Ballesta-Martínez MJ, Serrano-Lorenzo P, Garrido-Moraga R, González-Quintana A, Blázquez A, Rubio JC, García-Consuegra I, Arenas J, Ugalde C, Morán M, Guillén-Navarro E, Martín MA. Amate-García G, et al. Among authors: blazquez a. Int J Mol Sci. 2023 Jan 16;24(2):1743. doi: 10.3390/ijms24021743. Int J Mol Sci. 2023. PMID: 36675256 Free PMC article.

2

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. Among authors: blazquez a. 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

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

4

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: blazquez a. Arch Neurol. 2005 Apr;62(4):659-61. doi: 10.1001/archneur.62.4.659. Arch Neurol. 2005. PMID: 15824269

5

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. 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

6

Association of novel POLG mutations and multiple mitochondrial DNA deletions with variable clinical phenotypes in a Spanish population.

González-Vioque E, Blázquez A, Fernández-Moreira D, Bornstein B, Bautista J, Arpa J, Navarro C, Campos Y, Fernández-Moreno MA, Garesse R, Arenas J, Martín MA. González-Vioque E, et al. Among authors: blazquez a. Arch Neurol. 2006 Jan;63(1):107-11. doi: 10.1001/archneur.63.1.107. Arch Neurol. 2006. PMID: 16401742

7

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

8

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

9

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: blazquez 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

10

Infantile mitochondrial encephalomyopathy with unusual phenotype caused by a novel BCS1L mutation in an isolated complex III-deficient patient.

Blázquez A, Gil-Borlado MC, Morán M, Verdú A, Cazorla-Calleja MR, Martín MA, Arenas J, Ugalde C. Blázquez A, et al. Neuromuscul Disord. 2009 Feb;19(2):143-6. doi: 10.1016/j.nmd.2008.11.016. Epub 2009 Jan 21. Neuromuscul Disord. 2009. PMID: 19162478

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