Assistente RarasDescreva sintomas, busque uma doença ou conte sua história. Eu pesquiso em 10.468 doenças raras.
Raras pode cometer erros. Não substitui orientação médica profissional.
4 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
16 ensaios clínicos encontrados, 4 ativos.
Evaluation of Dysphagia in Myositis and Muscular Dystrophy Using Real-Time MRI and Quantitative Muscle Ultrasound.
Recurrent Pneumonia in a Patient With Oculopharyngeal Muscular Dystrophy (OPMD) due to GCN Expansion in the PABPN1 Gene: A Diagnostic Challenge.
Oculopharyngeal muscular dystrophy (OPMD) associated alanine expansion impairs the function of the nuclear polyadenosine RNA binding protein PABPN1 as revealed by proximity labeling and comparative proteomics.
🥇 Meta-análiseWhat is known about muscle weakness, balance impairments and indoor mobility limitations in oculopharyngeal muscular dystrophy? A scoping review.
Comprehensive Profiling of Annexins in Neuromuscular Disorders Reveals a Unique Signature in Dysferlinopathy.