Detalhe da pesquisa
1.
A DM1 family with interruptions associated with atypical symptoms and late onset but not with a milder phenotype.
Hum Mutat
; 41(2): 420-431, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31608518
2.
Study of the effect of anti-rhGAA antibodies at low and intermediate titers in late onset Pompe patients treated with ERT.
Mol Genet Metab
; 128(1-2): 129-136, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31378569
3.
Missense mutations have unexpected consequences: The McArdle disease paradigm.
Hum Mutat
; 39(10): 1338-1343, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30011114
4.
Correction to: Manifesting heterozygotes in McArdle disease: a myth or a reality-role of statins.
J Inherit Metab Dis
; 41(6): 1295, 2018 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-30030676
5.
Manifesting heterozygotes in McArdle disease: a myth or a reality-role of statins.
J Inherit Metab Dis
; 41(6): 1027-1035, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29926259
6.
Genotypic and phenotypic features of all Spanish patients with McArdle disease: a 2016 update.
BMC Genomics
; 18(Suppl 8): 819, 2017 Nov 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-29143597
7.
Genes and exercise intolerance: insights from McArdle disease.
Physiol Genomics
; 48(2): 93-100, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26465709
8.
Taking advantage of an old concept, "illegitimate transcription", for a proposed novel method of genetic diagnosis of McArdle disease.
Genet Med
; 18(11): 1128-1135, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-26913921
9.
Myotilinopathy unmasked by statin treatment: A case report.
Muscle Nerve
; 57(6): E138-E140, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29350769
10.
A New Methodology for Intraoperative Monitoring of the Functional Integrity of the Phrenic Nerve During Cardiothoracic Surgery.
J Clin Neurophysiol
; 38(3): 226-230, 2021 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31895134
11.
Characterization of RAN Translation and Antisense Transcription in Primary Cell Cultures of Patients with Myotonic Dystrophy Type 1.
J Clin Med
; 10(23)2021 Nov 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-34884222
12.
Preliminary Findings on CTG Expansion Determination in Different Tissues from Patients with Myotonic Dystrophy Type 1.
Genes (Basel)
; 11(11)2020 11 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33171734
13.
The Need for Establishing a Universal CTG Sizing Method in Myotonic Dystrophy Type 1.
Genes (Basel)
; 11(7)2020 07 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32645888
14.
Three-dimensional imaging in myotonic dystrophy type 1: Linking molecular alterations with disease phenotype.
Neurol Genet
; 6(4): e484, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-32802949
15.
Exercise and Preexercise Nutrition as Treatment for McArdle Disease.
Med Sci Sports Exerc
; 48(4): 673-9, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26559449
16.
Implementation of Intraoperative Neurophysiological Monitoring during Endovascular Procedures in the Central Nervous System.
Interv Neurol
; 3(2): 85-100, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26019712
17.
A novel mutation in the valosin-containing-protein gene found in a Spanish family.
J Neurol Sci
; 391: 112-113, 2018 08 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30103957
18.
Anti-SRP auto-antibodies are not specific for myositis: Report of 8 cases.
Joint Bone Spine
; 84(1): 103-105, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-27236258
19.
[Tuberculous myelitis with paraplegia]. / Paraplejía por mielitis tuberculosa.
Med Clin (Barc)
; 126(14): 556-7, 2006 Apr 15.
Artigo
em Espanhol
| MEDLINE | ID: mdl-16756912