Detalhe da pesquisa
1.
Phenotypic spectrum of MFN2 mutations in the Spanish population.
J Med Genet
; 47(4): 249-56, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-19889647
2.
A kindred with cerebellar ataxia and thermoanalgesia.
J Neurol Neurosurg Psychiatry
; 80(5): 518-23, 2009 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-18710877
3.
Two Spanish families with Charcot-Marie-Tooth type 2A: clinical, electrophysiological and molecular findings.
Neuromuscul Disord
; 18(12): 974-8, 2008 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-18996695
4.
Genetic analysis of 27 Spanish patients with hemiplegic migraine, basilar-type migraine and childhood periodic syndromes.
Cephalalgia
; 28(10): 1039-47, 2008 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-18644040
5.
A nuclear defect in the 4p16 region predisposes to multiple mitochondrial DNA deletions in families with Wolfram syndrome.
J Clin Invest
; 97(7): 1570-6, 1996 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-8601620
6.
Effects of chronic restraint stress on the global DNA methylation profile of rat lung cells: Modulation by physical exercise.
Behav Brain Res
; 331: 188-192, 2017 07 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-28341609
7.
Physical exercise affects the epigenetic programming of rat brain and modulates the adaptive response evoked by repeated restraint stress.
Behav Brain Res
; 296: 286-289, 2016 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26342282
8.
Spinocerebellar ataxia type 2 (SCA2) with white matter involvement.
Neurosci Lett
; 381(3): 247-51, 2005 Jun 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-15896478
9.
Effects of zidovudine in 30 patients with mild to end-stage AIDS dementia complex.
AIDS
; 7(5): 683-92, 1993 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-8318176
10.
Methods for detecting early signs of AIDS dementia complex in asymptomatic HIV-1-infected subjects.
AIDS
; 6(11): 1309-16, 1992 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-1361744
11.
Identification of seven novel SNPS (five nucleotide and two amino acid substitutions) in the connexin31 (GJB3) gene.
Hum Mutat
; 15(5): 481-2, 2000 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-10790215
12.
Linkage of DFNB1 to non-syndromic neurosensory autosomal-recessive deafness in Mediterranean families.
Eur J Hum Genet
; 5(2): 83-8, 1997.
Artigo
em Inglês
| MEDLINE | ID: mdl-9195157
13.
Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study.
Eur J Hum Genet
; 4(1): 25-33, 1996.
Artigo
em Inglês
| MEDLINE | ID: mdl-8800924
14.
Clinical, neuropathologic, and genetic studies of a large spinocerebellar ataxia type 1 (SCA1) kindred: (CAG)n expansion and early premonitory signs and symptoms.
Neurology
; 45(1): 24-30, 1995 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-7824128
15.
Linkage analysis in Spanish families with nonspecific X-linked mental retardation: Significant linkage at Xq13-q21.
Am J Med Genet
; 98(4): 343-7, 2001 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-11170079
16.
Identification of WASP mutations in 14 Spanish families with Wiskott-Aldrich syndrome.
Am J Med Genet
; 100(2): 116-21, 2001 Apr 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-11298372
17.
Anticipation is not associated with CAG repeat expansion in parent-offspring pairs of patients affected with schizophrenia.
Am J Med Genet
; 88(1): 50-6, 1999 Feb 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-10050967
18.
Understanding the dynamics of Spinocerebellar Ataxia 8 (SCA8) locus through a comparative genetic approach in humans and apes.
Neurosci Lett
; 336(3): 143-6, 2003 Jan 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-12505613
19.
Enterogenous cyst of the spinal cord terminal cone. Clinical and radiological aspects (CT and MRI).
J Neurosurg Sci
; 33(3): 287-9, 1989.
Artigo
em Inglês
| MEDLINE | ID: mdl-2614514
20.
Cerebral blood flow in AIDS-related neurotoxoplasmosis: a preliminary 99mTc-HMPAO SPECT study.
Nuklearmedizin
; 30(1): 13-7, 1991 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-2062672