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Montse Olivé

University of Barcelona
H指数:42
被引数:4,855

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Disease spectrum and long-term prognosis of patients with BAG3-associated neuromuscular diseases in Europe

BAG3相关神经肌肉疾病在欧洲患者中的疾病谱及长期预后。Brain A J. Neurology, awaf223

BRAIN
IF11.7
2025-11-011
PRE
Recomendaciones para el diagnóstico, tratamiento y seguimiento de la enfermedad de Pompe de inicio tardío

晚期庞贝病的诊断、治疗和随访建议

2025-09-260
OAAI
Repeat Expansions in PLIN4 Cause Autosomal Dominant Vacuolar Myopathy With Sarcolemmal Features

PLIN4中的重复扩展导致具有肌膜特征的常染色体显性空泡性肌病

2025-07-220
OA
Hypokalemic periodic paralysis associated with the atypical CACNA1S c.2690G>A (p.Arg897Lys) variant: description of 14 affected individuals from five families

低钾型周期性瘫痪与不典型CACNA1S c.2690G>A (p.Arg897Lys)变异相关:来自五个家庭的14例受累个体的描述

2025-07-020
OAAI
Absence of Pathogenic Mutations and Strong Association With HLA-DRB1*11:01 in Statin-Naive Early-Onset Anti-HMGCR Necrotizing Myopathy
2024-09-010
OAAI
Decoding the muscle transcriptome of patients with late-onset Pompe disease reveals markers of disease progression
BRAIN
IF11.7
2024-07-240
OAAI
Membrane Proteome-Wide Screening of Autoantibodies in CIDP Using Human Cell Microarray Technology
2024-05-013
OAAI
Anoctamin-5 related muscle disease: clinical and genetic findings in a large European cohort
BRAIN
IF11.7
2023-03-133
OA
Telemedicine in Neuromuscular Diseases During Covid-19 Pandemic: ERN-NMD European Survey
2023-03-073
OA
Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure
2022-10-2012
OA
Mutation update for the ACTN2 gene
2022-09-2721
OA
The Location of Disease-Causing DES Variants Determines the Severity of Phenotype and the Morphology of Sarcoplasmic Aggregates
2022-07-283
PRE
Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study
2022-07-2722
OA
Immune Response and Safety of SARS-CoV-2 mRNA-1273 Vaccine in Patients With Myasthenia Gravis
2022-07-0113
OAAI