Detalhe da pesquisa
1.
Genetics of the Charcot-Marie-Tooth disease in the Spanish Gypsy population: the hereditary motor and sensory neuropathy-Russe in depth.
Clin Genet
; 83(6): 565-70, 2013 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-22978647
2.
Isolated cardiomyopathy caused by a DMD nonsense mutation in somatic mosaicism: genetic normalization in skeletal muscle.
Clin Genet
; 82(6): 574-8, 2012 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-22092019
3.
A new phenotype of dysferlinopathy with congenital onset.
Neuromuscul Disord
; 19(1): 21-5, 2009 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-19084402
4.
Altered myogenesis and premature senescence underlie human TRIM32-related myopathy.
Acta Neuropathol Commun
; 7(1): 30, 2019 03 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30823891
5.
Highly skewed inactivation of the wild-type X-chromosome in asymptomatic female carriers of spinal and bulbar muscular atrophy (Kennedy's disease).
J Neurol
; 255(6): 853-7, 2008 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-18446311
6.
Report by the Spanish Foundation for the Brain on the social impact of amyotrophic lateral sclerosis and other neuromuscular disorders. / Informe de la Fundación Del Cerebro sobre el impacto social de la esclerosis lateral amiotrófica y las enfermedades neuromusculares.
Neurologia (Engl Ed)
; 33(1): 35-46, 2018.
Artigo
Inglês, Espanhol
| MEDLINE | ID: mdl-25825074
7.
Uso de la determinación transcutánea de co2 en pacientes con déficit de timidina quinasa 2 y costes de su uso en una consulta de ventilación mecánica no invasiva / Use of transcutaneous co2 determination in patients with thymidine kinase 2 deficit and costs of its use in a noninvasive mechanical ventilation consultation
Rev. esp. patol. torac
; 35(3): 195-201, oct. 2023. tab, graf
Artigo
Espanhol
| IBECS (Espanha) | ID: ibc-227388
8.
A novel MYH7 founder mutation causing Laing distal myopathy in Southern Spain.
Neuromuscul Disord
; 28(10): 828-836, 2018 10.
Artigo
Inglês
| MEDLINE | ID: mdl-30166250
9.
Dysferlin expression in monocytes: a source of mRNA for mutation analysis.
Neuromuscul Disord
; 17(1): 69-76, 2007 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-17070050
10.
Variable presentation of the clinical phenotype of McArdle's disease in a kindred harbouring a novel compound genotype in the muscle glycogen phosphorylase gene.
Neurosci Lett
; 391(1-2): 28-31, 2005 Dec 31.
Artigo
Inglês
| MEDLINE | ID: mdl-16154688
11.
Informe de la Fundación Del Cerebro sobre el impacto social de la esclerosis lateral amiotrófica y las enfermedades neuromusculares / Report by the Spanish Foundation for the Brain on the social impact of amyotrophic lateral sclerosis and other neuromuscular disorders
Neurología (Barc., Ed. impr.)
; 33(1): 35-46, ene.-feb. 2018. tab
Artigo
Espanhol
| IBECS (Espanha) | ID: ibc-172545
12.
Redefining dysferlinopathy phenotypes based on clinical findings and muscle imaging studies.
Neurology
; 75(4): 316-23, 2010 Jul 27.
Artigo
Inglês
| MEDLINE | ID: mdl-20574037
13.
Symptomatic dysferlin gene mutation carriers: characterization of two cases.
Neurology
; 68(16): 1284-9, 2007 Apr 17.
Artigo
Inglês
| MEDLINE | ID: mdl-17287450
14.
[Spinal cord lymphoma]. / Linfoma intrarraquídeo.
Neurologia
; 14(8): 407, 1999 Oct.
Artigo
Espanhol
| MEDLINE | ID: mdl-10609464
15.
[Isolated paralysis of the hypoglossal nerve due to metastasis at the base of the cranium]. / Parálisis aislada del nervio hipogloso debida a metástasis de la base de cráneo.
Neurologia
; 15(1): 31, 2000 Jan.
Artigo
Espanhol
| MEDLINE | ID: mdl-10730064