Detalhe da pesquisa
1.
Ablation of the carboxy-terminal end of MAMDC2 causes a distinct muscular dystrophy.
Brain
; 146(12): 5235-5248, 2023 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37503746
2.
Anoctamin-5 related muscle disease: clinical and genetic findings in a large European cohort.
Brain
; 146(9): 3800-3815, 2023 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36913258
3.
BNIP3 Is Involved in Muscle Fiber Atrophy in Late-Onset Pompe Disease Patients.
Am J Pathol
; 192(8): 1151-1166, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35605642
4.
Lessons learned from a sporadic FUSopathy in a young man: a case report.
BMC Neurol
; 23(1): 55, 2023 Feb 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36732691
5.
Assessing Dysferlinopathy Patients Over Three Years With a New Motor Scale.
Ann Neurol
; 89(5): 967-978, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33576057
6.
Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study.
J Neurol Neurosurg Psychiatry
; 2022 07 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-35896379
7.
Cardiac and pulmonary findings in dysferlinopathy: A 3-year, longitudinal study.
Muscle Nerve
; 65(5): 531-540, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35179231
8.
Characterizing SOD1 mutations in Spain. The impact of genotype, age, and sex in the natural history of the disease.
Eur J Neurol
; 2022 Dec 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36484631
9.
Novel ANO5 intronic Roma variant alters splicing causing muscular dystrophy.
Clin Genet
; 100(1): 106-110, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33818761
10.
Charcot-Marie-Tooth disease due to MORC2 mutations in Spain.
Eur J Neurol
; 28(9): 3001-3011, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34189813
11.
Clinical characteristics and outcomes of thymoma-associated myasthenia gravis.
Eur J Neurol
; 28(6): 2083-2091, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33721382
12.
Deoxynucleoside Therapy for Thymidine Kinase 2-Deficient Myopathy.
Ann Neurol
; 86(2): 293-303, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31125140
13.
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
em Inglês
| MEDLINE | ID: mdl-31897643
14.
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
15.
Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy.
J Neurol Neurosurg Psychiatry
; 90(5): 576-585, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30530568
16.
Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials.
J Neurol Neurosurg Psychiatry
; 89(10): 1071-1081, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29735511
17.
Muscle imaging in laminopathies: Synthesis study identifies meaningful muscles for follow-up.
Muscle Nerve
; 58(6): 812-817, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30066418
18.
A Laing distal myopathy-associated proline substitution in the ß-myosin rod perturbs myosin cross-bridging activity.
J Clin Invest
; 134(9)2024 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38690726
19.
Clinical and Genetic Analysis of Patients With TK2 Deficiency.
Neurol Genet
; 10(2): e200138, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38544965
20.
EURO-NMD registry: federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry for rare neuromuscular disorders.
Orphanet J Rare Dis
; 19(1): 66, 2024 Feb 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38355534