Detalhe da pesquisa
1.
POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern.
Acta Neuropathol
; 139(3): 565-582, 2020 03.
Artigo
Inglês
| MEDLINE | ID: mdl-31897643
2.
Clinical spectrum of BICD2 mutations.
Eur J Neurol
; 27(7): 1327-1335, 2020 07.
Artigo
Inglês
| MEDLINE | ID: mdl-32056343
3.
Plectin-related scapuloperoneal myopathy with treatment-responsive myasthenic syndrome.
Neuropathol Appl Neurobiol
; 47(2): 352-356, 2021 02.
Artigo
Inglês
| MEDLINE | ID: mdl-32757300
4.
The EGR2 gene is involved in axonal Charcot-Marie-Tooth disease.
Eur J Neurol
; 22(12): 1548-55, 2015 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-26204789
5.
Spanish MYH7 founder mutation of Italian ancestry causing a large cluster of Laing myopathy patients.
Clin Genet
; 81(5): 491-4, 2012 May.
Artigo
Inglês
| MEDLINE | ID: mdl-21395566
6.
[Guidelines for molecular diagnosis of Charcot-Marie-Tooth disease]. / Guía diagnóstica en el paciente con enfermedad de Charcot-Marie-Tooth.
Neurologia
; 27(3): 169-78, 2012 Apr.
Artigo
Espanhol
| MEDLINE | ID: mdl-21703725
7.
Phenotype and natural history of inherited neuropathies caused by HSJ1 c.352+1G>A mutation.
J Neurol Neurosurg Psychiatry
; 87(11): 1265-1268, 2016 11.
Artigo
Inglês
| MEDLINE | ID: mdl-27083531
8.
EFNS guidelines on the diagnostic approach to pauci- or asymptomatic hyperCKemia.
Eur J Neurol
; 17(6): 767-73, 2010 Jun 01.
Artigo
Inglês
| MEDLINE | ID: mdl-20402744
9.
Characterization of novel CAPN3 isoforms in white blood cells: an alternative approach for limb-girdle muscular dystrophy 2A diagnosis.
Neurogenetics
; 9(3): 173-82, 2008 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-18563459
10.
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
11.
Circulating miR-323-3p is a biomarker for cardiomyopathy and an indicator of phenotypic variability in Friedreich's ataxia patients.
Sci Rep
; 7(1): 5237, 2017 07 12.
Artigo
Inglês
| MEDLINE | ID: mdl-28701783
12.
Molecular characterization of congenital myasthenic syndromes in Spain.
Neuromuscul Disord
; 27(12): 1087-1098, 2017 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-29054425
13.
Phenotypic heterogeneity in two large Roma families with a congenital myasthenic syndrome due to CHRNE 1267delG mutation. A long-term follow-up.
Neuromuscul Disord
; 26(11): 789-795, 2016 11.
Artigo
Inglês
| MEDLINE | ID: mdl-27634344
14.
Long-term follow-up in patients with congenital myasthenic syndrome due to RAPSN mutations.
Neuromuscul Disord
; 26(2): 153-9, 2016 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-26782015
15.
HNRNPDL-related limb girdle muscular dystrophy in a Spanish family with scapulo-peroneal phenotype, the first family in Europe.
J Neurol Sci
; 414: 116875, 2020 07 15.
Artigo
Inglês
| MEDLINE | ID: mdl-32407983
16.
Targeted screening for the detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy or asymptomatic hyperCKemia using dried blood: A Spanish cohort.
Neuromuscul Disord
; 25(7): 548-53, 2015 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-25998610
17.
Mapping of Friedreich's ataxia locus by identification of recombination events in patients homozygous by descent.
Eur J Hum Genet
; 2(4): 291-9, 1994.
Artigo
Inglês
| MEDLINE | ID: mdl-7704559
18.
Novel human pathological mutations. Gene symbol: DMD. Disease: muscular dystrophy, Duchenne.
Hum Genet
; 126(2): 338, 2009 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-19694014
19.
Neurologic complications associated with hepatitis C virus infection.
Neurology
; 53(4): 861-4, 1999 Sep 11.
Artigo
Inglês
| MEDLINE | ID: mdl-10489056
20.
Cerebellar ataxia associated with neuroendocrine thymic carcinoma and GAD antibodies.
J Neurol Neurosurg Psychiatry
; 80(6): 696-7, 2009 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-19448100