Detalhe da pesquisa
1.
Phenotypic correlations in a large single-center cohort of patients with BSCL2 nerve disorders: a clinical, neurophysiological and muscle magnetic resonance imaging study.
Eur J Neurol
; 27(8): 1364-1373, 2020 08.
Artigo
Inglês
| MEDLINE | ID: mdl-32320108
2.
Deep phenotyping of facioscapulohumeral muscular dystrophy type 2 by magnetic resonance imaging.
Eur J Neurol
; 27(12): 2604-2615, 2020 12.
Artigo
Inglês
| MEDLINE | ID: mdl-32697863
3.
Corpus callosum agenesis, myopathy and pinpoint pupils: consider Stormorken syndrome.
Eur J Neurol
; 25(2): e25-e26, 2018 02.
Artigo
Inglês
| MEDLINE | ID: mdl-29356264
4.
Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease. / Guía clínica para el diagnóstico y seguimiento de la distrofia miotónica tipo 1, DM1 o enfermedad de Steinert.
Neurologia (Engl Ed)
; 35(3): 185-206, 2020 Apr.
Artigo
Inglês, Espanhol
| MEDLINE | ID: mdl-31003788
5.
Cranial, axial and proximal myopathy and hypertrophic cardiomyopathy caused by a mutation in the globular head region of the MYH7 gene.
Eur J Neurol
; 21(6): e51-2, 2014 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-24805292
6.
Axial involvement as a prominent feature in SMPX-related distal myopathy.
Neuromuscul Disord
; 39: 3-4, 2024 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-38615630
7.
Blood pressure is not associated with haematoma enlargement in acute intracerebral haemorrhage.
Eur J Neurol
; 15(10): 1085-90, 2008 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-18717722
8.
[Isolated girdle weakness: expansion of the phenotypic spectrum of the MERRF 8344A>G mutation of mitochondrial DNA]. / Debilidad aislada de cinturas: ampliacion del espectro fenotipico de la mutacion MERRF 8344A>G del ADN mitocondrial.
Rev Neurol
; 66(8): 268-270, 2018 Apr 16.
Artigo
Espanhol
| MEDLINE | ID: mdl-29645070
9.
Molecular characterization of congenital myasthenic syndromes in Spain.
Neuromuscul Disord
; 27(12): 1087-1098, 2017 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-29054425
10.
[Fifteen years of enzyme therapy in Pompe disease]. / Quince años de la terapia enzimática en la enfermedad de Pompe.
Rev Neurol
; 73(9): 337-338, 2021 11 01.
Artigo
Espanhol
| MEDLINE | ID: mdl-34676531
11.
1st FSHD European Trial Network workshop:Working towards trial readiness across Europe.
Neuromuscul Disord
; 31(9): 907-918, 2021 09.
Artigo
Inglês
| MEDLINE | ID: mdl-34404575
12.
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
13.
Guía clínica para el diagnóstico y seguimiento de la distrofia miotónica tipo 1, DM1 o enfermedad de Steinert / Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease
Neurología (Barc., Ed. impr.)
; 35(3): 185-206, abr. 2020. tab
Artigo
Espanhol
| IBECS (Espanha) | ID: ibc-197531
14.
Long-lasting treatment effect of rituximab in MuSK myasthenia.
Neurology
; 78(3): 189-93, 2012 Jan 17.
Artigo
Inglês
| MEDLINE | ID: mdl-22218276
15.
Quince años de la terapia enzimática en la enfermedad de Pompe / Fifteen years of enzyme therapy in Pompe disease
Rev. neurol. (Ed. impr.)
; 73(9): 337-338, Nov 1, 2021.
Artigo
Espanhol
| IBECS (Espanha) | ID: ibc-229595
16.
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
17.
Partial dysferlin reconstitution by adult murine mesoangioblasts is sufficient for full functional recovery in a murine model of dysferlinopathy.
Cell Death Dis
; 1: e61, 2010 Aug 05.
Artigo
Inglês
| MEDLINE | ID: mdl-21364666
18.
Dried Blood Spot for Screening for Late-Onset Pompe Disease: A Spanish Cohort.
J Neuromuscul Dis
; 2(s1): S42, 2015.
Artigo
Inglês
| MEDLINE | ID: mdl-27858636
19.
Unique post-exercise electrophysiological test results in a new Andersen-Tawil syndrome mutation.
Clin Neurophysiol
; 122(12): 2537-9, 2011 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-21640645
20.
Reasons for exclusion from thrombolytic therapy following acute ischemic stroke.
Neurology
; 64(4): 719-20, 2005 Feb 22.
Artigo
Inglês
| MEDLINE | ID: mdl-15728300