del Hoyo P - Search Results

1

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: del hoyo p. Ann Neurol. 2001 Nov;50(5):574-81. Ann Neurol. 2001. PMID: 11706962

2

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: del hoyo p. 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.

3

Identification of novel mutations in Spanish patients with muscle carnitine palmitoyltransferase II deficiency.

Martín MA, Rubio JC, del Hoyo P, García A, Bustos F, Campos Y, Cabello A, Culebras JM, Arenas J. Martín MA, et al. Among authors: del hoyo p. Hum Mutat. 2000 Jun;15(6):579-80. doi: 10.1002/1098-1004(200006)15:6<579::AID-HUMU14>3.0.CO;2-H. Hum Mutat. 2000. PMID: 10862092

4

Molecular analysis of Spanish patients with AMP deaminase deficiency.

Rubio JC, Martín MA, Del Hoyo P, Bautista J, Campos Y, Segura D, Navarro C, Ricoy JR, Cabello A, Arenas J. Rubio JC, et al. Among authors: del hoyo p. Muscle Nerve. 2000 Aug;23(8):1175-8. doi: 10.1002/1097-4598(200008)23:8<1175::aid-mus3>3.0.co;2-m. Muscle Nerve. 2000. PMID: 10918252

5

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

6

[Enzyme complex defects of the mitochondrial respiratory chain].

Rubio JC, Martín MA, del Hoyo P, de Bustos F, Campos Y, Arenas J. Rubio JC, et al. Among authors: del hoyo p. Rev Neurol. 1998 Apr;26 Suppl 1:S15-20. Rev Neurol. 1998. PMID: 9810586 Review. Spanish.

7

[Molecular genetics of alterations in the mitochondrial respiratory chain].

Martín MA, Campos Y, de Bustos F, del Hoyo P, Rubio JC, Arenas J. Martín MA, et al. Among authors: del hoyo p. Rev Neurol. 1998 Apr;26 Suppl 1:S27-35. Rev Neurol. 1998. PMID: 9810588 Review. Spanish.

8

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

9

Slow segregation and rapid shift to homoplasmy coexist in a family with the T8993 > G mutation.

Martín MA, Campos Y, García-Silva MT, Rubio JC, Del Hoyo P, de Bustos F, García A, Arenas J. Martín MA, et al. Among authors: del hoyo p. J Inherit Metab Dis. 1999 Dec;22(8):939-40. doi: 10.1023/a:1005603926730. J Inherit Metab Dis. 1999. PMID: 10604149 No abstract available.

10

A mitochondrial tRNA(Lys) gene mutation (T8316C) in a patient with mitochondrial myopathy, lactic acidosis, and stroke-like episodes.

Campos Y, Lorenzo G, Martín MA, Torregrosa A, del Hoyo P, Rubio JC, García A, Arenas J. Campos Y, et al. Among authors: del hoyo p. Neuromuscul Disord. 2000 Oct;10(7):493-6. doi: 10.1016/s0960-8966(00)00107-3. Neuromuscul Disord. 2000. PMID: 10996780

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