Navarro C - Search Results

1

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: navarro c. Neurology. 2001 Feb 27;56(4):450-4. doi: 10.1212/wnl.56.4.450. Neurology. 2001. PMID: 11222786

2

Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene.

Melià MJ, Kubota A, Ortolano S, Vílchez JJ, Gámez J, Tanji K, Bonilla E, Palenzuela L, Fernández-Cadenas I, Pristoupilová A, García-Arumí E, Andreu AL, Navarro C, Hirano M, Martí R. Melià MJ, et al. Among authors: navarro c. Brain. 2013 May;136(Pt 5):1508-17. doi: 10.1093/brain/awt074. Epub 2013 Mar 29. Brain. 2013. PMID: 23543484 Free PMC article.

3

Familial multiple symmetric lipomatosis associated with the A8344G mutation of mitochondrial DNA.

Gámez J, Playán A, Andreu AL, Bruno C, Navarro C, Cervera C, Arbós MA, Schwartz S, Enriquez JA, Montoya J. Gámez J, et al. Among authors: navarro c. Neurology. 1998 Jul;51(1):258-60. doi: 10.1212/wnl.51.1.258. Neurology. 1998. PMID: 9674814

4

Molecular genetic analysis of McArdle's disease in Spanish patients.

Andreu AL, Bruno C, Gamez J, Shanske S, Cervera C, Navarro C, Arbos MA, Tamburino L, Schwartz S, DiMauro S. Andreu AL, et al. Among authors: navarro c. Neurology. 1998 Jul;51(1):260-2. doi: 10.1212/wnl.51.1.260. Neurology. 1998. PMID: 9674815

5

A new mutation in the regulatory domain of the myophosphorylase gene affecting protein dimer contact.

Gamez J, Fernandez R, Bruno C, Andreu AL, Cervera C, Navarro C, Schwartz S, Dimauro S. Gamez J, et al. Among authors: navarro c. Muscle Nerve. 1999 Aug;22(8):1136-8. doi: 10.1002/(sici)1097-4598(199908)22:8<1136::aid-mus21>3.0.co;2-2. Muscle Nerve. 1999. PMID: 10417800

6

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: navarro c. Arch Neurol. 2000 Feb;57(2):217-9. doi: 10.1001/archneur.57.2.217. Arch Neurol. 2000. PMID: 10681080 Clinical Trial.

7

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: navarro c. Ann Neurol. 2001 Nov;50(5):574-81. Ann Neurol. 2001. PMID: 11706962

8

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: navarro c. Brain. 2005 Jul;128(Pt 7):1716-27. doi: 10.1093/brain/awh511. Epub 2005 Apr 27. Brain. 2005. PMID: 15857933

9

Muscle involvement in cholesterol ester storage disease.

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

10

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: navarro c. Ann Neurol. 1990 May;27(5):480-6. doi: 10.1002/ana.410270505. Ann Neurol. 1990. PMID: 2360788

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