Campos Y - Search Results

1

Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis.

Al Khleifat A, Iacoangeli A, van Vugt JJFA, Bowles H, Moisse M, Zwamborn RAJ, van der Spek RAA, Shatunov A, Cooper-Knock J, Topp S, Byrne R, Gellera C, López V, Jones AR, Opie-Martin S, Vural A, Campos Y, van Rheenen W, Kenna B, Van Eijk KR, Kenna K, Weber M, Smith B, Fogh I, Silani V, Morrison KE, Dobson R, van Es MA, McLaughlin RL, Vourc'h P, Chio A, Corcia P, de Carvalho M, Gotkine M, Panades MP, Mora JS, Shaw PJ, Landers JE, Glass JD, Shaw CE, Basak N, Hardiman O, Robberecht W, Van Damme P, van den Berg LH, Veldink JH, Al-Chalabi A. Al Khleifat A, et al. Among authors: campos y. NPJ Genom Med. 2022 Jan 28;7(1):8. doi: 10.1038/s41525-021-00267-9. NPJ Genom Med. 2022. PMID: 35091648 Free PMC article.

2

Molecular analysis of the superoxide dismutase 1 gene in Spanish patients with sporadic or familial amyotrophic lateral sclerosis.

García-Redondo A, Bustos F, Juan Y Seva B, Del Hoyo P, Jiménez S, Campos Y, Martín MA, Rubio JC, Cañadillas F, Arenas J, Esteban J. García-Redondo A, et al. Among authors: campos y. Muscle Nerve. 2002 Aug;26(2):274-8. doi: 10.1002/mus.10193. Muscle Nerve. 2002. PMID: 12210393

3

Sporadic MERRF/MELAS overlap syndrome associated with the 3243 tRNA(Leu(UUR)) mutation of mitochondrial DNA.

Campos Y, Martin MA, Lorenzo G, Aparicio M, Cabello A, Arenas J. Campos Y, et al. Muscle Nerve. 1996 Feb;19(2):187-90. doi: 10.1002/(SICI)1097-4598(199602)19:2<187::AID-MUS10>3.0.CO;2-S. Muscle Nerve. 1996. PMID: 8559168

4

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: campos y. 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.

5

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: campos y. 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

6

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: campos y. 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

7

A homozygous missense mutation (A659D) in the myophosphorylase gene in a Spanish patient with McArdle's disease.

Martín MA, Rubio JC, Campos Y, Ricoy JR, Cabello A, Arenas J. Martín MA, et al. Among authors: campos y. Neuromuscul Disord. 2000 Aug;10(6):447-9. doi: 10.1016/s0960-8966(99)00124-8. Neuromuscul Disord. 2000. PMID: 10899452

8

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: campos y. 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

9

Cosegregation of the mitochondrial DNA A1555G and G4309A mutations results in deafness and mitochondrial myopathy.

Campos Y, García A, López A, Jiménez S, Rubio JC, Del Hoyo P, Bustos F, Martín MA, Cabello A, Ricoy JR, Arenas J. Campos Y, et al. Muscle Nerve. 2002 Feb;25(2):185-8. doi: 10.1002/mus.10012. Muscle Nerve. 2002. PMID: 11870684

10

Prevalence and progression of mitochondrial diseases: a study of 50 patients.

Arpa J, Cruz-Martínez A, Campos Y, Gutiérrez-Molina M, García-Rio F, Pérez-Conde C, Martín MA, Rubio JC, Del Hoyo P, Arpa-Fernández A, Arenas J. Arpa J, et al. Among authors: campos y. Muscle Nerve. 2003 Dec;28(6):690-5. doi: 10.1002/mus.10507. Muscle Nerve. 2003. PMID: 14639582

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