Fernández JM - 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: fernandez hojas r, fernandez jm. Ann Neurol. 2001 Nov;50(5):574-81. Ann Neurol. 2001. PMID: 11706962

2

A novel missense mutation (W797R) in the myophosphorylase gene in Spanish patients with McArdle disease.

Fernández R, Navarro C, Andreu AL, Bruno C, Shanske S, Gámez J, Teijeira S, Hernández I, Teijeiro A, Fernández JM, Musumeci O, DiMauro S. Fernández R, et al. Among authors: fernandez jm. Arch Neurol. 2000 Feb;57(2):217-9. doi: 10.1001/archneur.57.2.217. Arch Neurol. 2000. PMID: 10681080 Clinical Trial.

3

Molecular and clinical study of McArdle's disease in a cohort of 123 European patients. Identification of 20 novel mutations.

Vieitez I, Teijeira S, Fernandez JM, San Millan B, Miranda S, Ortolano S, Louis S, Laforet P, Navarro C. Vieitez I, et al. Among authors: fernandez jm. Neuromuscul Disord. 2011 Dec;21(12):817-23. doi: 10.1016/j.nmd.2011.07.002. Epub 2011 Jul 29. Neuromuscul Disord. 2011. PMID: 21802952

4

Skin biopsy findings in glycogenosis III: clinical, biochemical, and electrophysiological correlations.

Sancho S, Navarro C, Fernández JM, Domínguez C, Ortega A, Roig M, Cervera C. Sancho S, et al. Among authors: fernandez jm. Ann Neurol. 1990 May;27(5):480-6. doi: 10.1002/ana.410270505. Ann Neurol. 1990. PMID: 2360788

5

Autosomal dominant limb-girdle muscular dystrophy: a large kindred with evidence for anticipation.

Gamez J, Navarro C, Andreu AL, Fernandez JM, Palenzuela L, Tejeira S, Fernandez-Hojas R, Schwartz S, Karadimas C, DiMauro S, Hirano M, Cervera C. Gamez J, et al. Among authors: fernandez hojas r, fernandez jm. Neurology. 2001 Feb 27;56(4):450-4. doi: 10.1212/wnl.56.4.450. Neurology. 2001. PMID: 11222786

6

Myoadenylate deaminase deficiency: clinico-pathological and molecular study of a series of 27 Spanish cases.

Teijeira S, San Millán B, Fernández JM, Rivas E, Viéitez I, Miranda S, González F, Navarro C. Teijeira S, et al. Among authors: fernandez jm. Clin Neuropathol. 2009 Mar-Apr;28(2):136-42. doi: 10.5414/npp28136. Clin Neuropathol. 2009. PMID: 19353846 Free article.

7

Adult glycogenosis II with paracrystalline mitochondrial inclusions and Hirano bodies in skeletal muscle.

Fernández R, Fernández JM, Cervera C, Teijeira S, Teijeiro A, Domínguez C, Navarro C. Fernández R, et al. Among authors: fernandez jm. Neuromuscul Disord. 1999 May;9(3):136-43. doi: 10.1016/s0960-8966(98)00117-5. Neuromuscul Disord. 1999. PMID: 10382906

8

Muscle involvement in cholesterol ester storage disease.

Navarro C, Fernández JM, Domínguez C, Ortega A, Sancho S, García J. Navarro C, et al. Among authors: fernandez jm. Neurology. 1992 May;42(5):1120-1. doi: 10.1212/wnl.42.5.1120. Neurology. 1992. PMID: 1579241 No abstract available.

9

Late juvenile metachromatic leukodystrophy treated with bone marrow transplantation; a 4-year follow-up study.

Navarro C, Fernández JM, Domínguez C, Fachal C, Alvarez M. Navarro C, et al. Among authors: fernandez jm. Neurology. 1996 Jan;46(1):254-6. doi: 10.1212/wnl.46.1.254. Neurology. 1996. PMID: 8559389

10

Autosomal dominant congenital fibre type disproportion: a clinicopathological and imaging study of a large family.

Sobrido MJ, Fernández JM, Fontoira E, Pérez-Sousa C, Cabello A, Castro M, Teijeira S, Alvarez S, Mederer S, Rivas E, Seijo-Martínez M, Navarro C. Sobrido MJ, et al. Among authors: fernandez jm. Brain. 2005 Jul;128(Pt 7):1716-27. doi: 10.1093/brain/awh511. Epub 2005 Apr 27. Brain. 2005. PMID: 15857933

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