Detalhe da pesquisa
1.
Biallelic variants in SNUPN cause a limb girdle muscular dystrophy with myofibrillar-like features.
Brain;
2024 Feb 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38366623
2.
Frequency and phenotypic spectrum of spinocerebellar ataxia 27B and other genetic ataxias in a Spanish cohort of late-onset cerebellar ataxia.
Eur J Neurol;
30(12): 3828-3833, 2023 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37578187
3.
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
4.
Clinical, morphological and genetic characterization of Brody disease: an international study of 40 patients.
Brain;
143(2): 452-466, 2020 02 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32040565
5.
New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy.
Brain;
143(9): 2696-2708, 2020 09 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32875335
6.
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
7.
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
8.
Limb girdle muscular dystrophy due to mutations in POMT2.
J Neurol Neurosurg Psychiatry;
89(5): 506-512, 2018 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29175898
9.
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
10.
Cancer phenotype in myotonic dystrophy patients: Results from a meta-analysis.
Muscle Nerve;
58(4): 517-522, 2018 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30028904
11.
Chronic pain has a strong impact on quality of life in facioscapulohumeral muscular dystrophy.
Muscle Nerve;
57(3): 380-387, 2018 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29053898
12.
Calpain 3 deficiency affects SERCA expression and function in the skeletal muscle.
Expert Rev Mol Med;
18: e7, 2016 Apr 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27055500
13.
Analysis of the C9orf72 gene in patients with amyotrophic lateral sclerosis in Spain and different populations worldwide.
Hum Mutat;
34(1): 79-82, 2013 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22936364
14.
Teenage exercise is associated with earlier symptom onset in dysferlinopathy: a retrospective cohort study.
J Neurol Neurosurg Psychiatry;
89(11): 1224-1226, 2018 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29378789
15.
Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis.
J Neurol;
270(12): 5849-5865, 2023 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37603075
16.
Senescence plays a role in myotonic dystrophy type 1.
JCI Insight;
7(19)2022 10 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36040809
17.
Muscle MRI characteristic pattern for late-onset TK2 deficiency diagnosis.
J Neurol;
269(7): 3550-3562, 2022 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35286480
18.
Delay of EGF-Stimulated EGFR Degradation in Myotonic Dystrophy Type 1 (DM1).
Cells;
11(19)2022 09 27.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36230978
19.
Three-year quantitative magnetic resonance imaging and phosphorus magnetic resonance spectroscopy study in lower limb muscle in dysferlinopathy.
J Cachexia Sarcopenia Muscle;
13(3): 1850-1863, 2022 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35373496
20.
Neurologic complications of intrathecal liposomal cytarabine administered prophylactically to patients with non-Hodgkin lymphoma.
J Neurooncol;
103(3): 603-9, 2011 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-20953897