Cabello A - Search Results

1

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

2

Genotypic and phenotypic features of McArdle disease: insights from the Spanish national registry.

Lucia A, Ruiz JR, Santalla A, Nogales-Gadea G, Rubio JC, García-Consuegra I, Cabello A, Pérez M, Teijeira S, Vieitez I, Navarro C, Arenas J, Martin MA, Andreu AL. Lucia A, et al. Among authors: cabello a. J Neurol Neurosurg Psychiatry. 2012 Mar;83(3):322-8. doi: 10.1136/jnnp-2011-301593. Epub 2012 Jan 16. J Neurol Neurosurg Psychiatry. 2012. PMID: 22250184

3

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

4

Expression of the muscle glycogen phosphorylase gene in patients with McArdle disease: the role of nonsense-mediated mRNA decay.

Nogales-Gadea G, Rubio JC, Fernandez-Cadenas I, Garcia-Consuegra I, Lucia A, Cabello A, Garcia-Arumi E, Arenas J, Andreu AL, Martín MA. Nogales-Gadea G, et al. Among authors: cabello a. Hum Mutat. 2008 Feb;29(2):277-83. doi: 10.1002/humu.20649. Hum Mutat. 2008. PMID: 17994553

5

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

6

McArdle's disease associated with homozygosity for the missense mutation Gly204Ser of the myophosphorylase gene in a Spanish patient.

Rubio JC, Martín MA, García A, Campos Y, Cabello A, Culebras JM, Arenas J. Rubio JC, et al. Among authors: cabello a. Neuromuscul Disord. 1999 May;9(3):174-5. doi: 10.1016/s0960-8966(98)00127-8. Neuromuscul Disord. 1999. PMID: 10382912

7

Molecular analysis in Spanish patients with muscle carnitine palmitoyltransferase deficiency.

Martín MA, Rubio JC, De Bustos F, Del Hoyo P, Campos Y, García A, Börnstein B, Cabello A, Arenas J. Martín MA, et al. Among authors: cabello a. Muscle Nerve. 1999 Jul;22(7):941-3. doi: 10.1002/(sici)1097-4598(199907)22:7<941::aid-mus20>3.0.co;2-z. Muscle Nerve. 1999. PMID: 10398215 Clinical Trial.

8

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

9

Two homozygous mutations (R193W and 794/795 delAA) in the myophosphorylase gene in a patient with McArdle's disease.

Martín MA, Rubio JC, Campos Y, Vílchez J, Cabello A, Arenas J. Martín MA, et al. Among authors: cabello a. Hum Mutat. 2000 Mar;15(3):294. doi: 10.1002/(SICI)1098-1004(200003)15:3<294::AID-HUMU13>3.0.CO;2-H. Hum Mutat. 2000. PMID: 10679948

10

A missense mutation T487N in the myophosphorylase gene in a Spanish patient with McArdle's disease.

Rubio JC, Martín MA, Campos Y, Cabello A, Arenas J. Rubio JC, et al. Among authors: cabello a. Neuromuscul Disord. 2000 Feb;10(2):138-40. doi: 10.1016/s0960-8966(99)00082-6. Neuromuscul Disord. 2000. PMID: 10714589

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