Anti-myogenic and profibrotic effect of serum from patients affected by muscular laminopathies [0.03%]
肌肉层粘连病患者血清的抗肌源性和促纤维化效应
Elisa Schena,Antonella Pini,Paola Cavalcante et al.
Elisa Schena et al.
Emery-Dreifuss Muscular Dystrophy type 2 (EDMD2) and LMNA-related congenital muscular dystrophy (L-CMD) are caused by mutations in LMNA gene. Both pathologies are characterized by joint contractures, muscle weakness and wasting and cardiac ...
Raffaella Manzo,Anna Annunziata,Cecilia Calabrese et al.
Raffaella Manzo et al.
The management of patients with neuromuscular diseases requires a multidisciplinary approach that integrates medical care with targeted psychological support. Respiratory difficulties, often treated with non-invasive ventilation (NIV) are a...
Empowering clinicians with artificial intelligence in hereditary neuromuscular disorders [0.03%]
人工智能在遗传性神经肌肉疾病中的临床应用赋能
Andi Nuredini,Marco Savarese,Filippo Maria Santorelli et al.
Andi Nuredini et al.
Artificial Intelligence (AI) is the ability of machines to perform tasks that typically require human intelligence, such as learning, problem-solving, and decision-making. Its integration into healthcare may revolutionize many areas of medi...
Multimodal Evaluation of Bethlem Myopathy with the c.788G > A Variant in the COL6A1 Gene: a case report with genetic, ultrasonographic, and structural-functional discordance correlations [0.03%]
COL6A1基因c.788G>A突变型贝赫切特肌病的多模态评估：一例遗传、超声和结构-功能不一致的相关性病例报告
Wilmer Santiago Herrera Malpica,Jully C Gómez,Fernando Ortiz-Corredor et al.
Wilmer Santiago Herrera Malpica et al.
Introduction: Bethlem myopathy (BM) is a collagen-VI-related myopathy caused by mutations in the COL6A1, COL6A2, and COL6A3 genes. It is characterized by proximal muscle weakness, distal joint laxity, and contractures, wi...
Cancer and benign tumors in myotonic dystrophy, facioscapulohumeral muscular dystrophy, and oculopharyngeal muscular dystrophy: a 23-year, single-center, retrospective study [0.03%]
肌强直性营养不良、面肩肱型肌营养不良和眼咽型肌营养不良患者中的肿瘤发生：一项23年单中心回顾性研究
Naman Bareja,Brinda Desai,Michal Vytopil et al.
Naman Bareja et al.
Objectives: Some muscular dystrophies, such as myotonic dystrophy type 1 and 2 (DM1 and DM2), facioscapulohumeral muscular dystrophy (FSHD), and oculopharyngeal muscular dystrophy (OPMD), are caused by genetic mutations t...
Corrado Angelini
Corrado Angelini
Females with X-Linked Muscle Disorders: an underestimated patient population [0.03%]
被低估的患者群体：女性X连锁肌肉病患者
Luisa Politano
Luisa Politano
Carriers of genetic diseases including female carriers of X-linked disorders are traditionally believed to be asymptomatic due to the compensatory presence of the unmutated gene on the other allele. However, in recent decades numerous contr...
What did we learn from new treatments in SMA? A narrative review [0.03%]
新的脊髓性肌萎缩症治疗手段带来了哪些启示？一项叙事综述
Eugenio Mercuri,Gianpaolo Cicala,Marianna Villa et al.
Eugenio Mercuri et al.
Spinal Muscular Atrophy (SMA) is a progressive neuromuscular disorder caused by SMN1 gene mutations, leading to inevitable motoneuronal degeneration. The introduction of disease modifying therapies has dramatically altered its natural histo...
Ilaria Saltarella,Paola Laghetti,Simone Dell&#x;Atti et al.
Ilaria Saltarella et al.
Objectives: Non-dystrophic myotonias (NDM) are rare diseases due to mutations in the voltage-gated sodium (Nav1.4) and chloride (ClC-1) channels expressed in skeletal muscle fibers. We provide an up-to-date review of phar...
Management of Pompe disease alongside and beyond ERT: a narrative review [0.03%]
α-葡萄糖苷酶抑制剂联合酶替代治疗之外的庞贝病管理：综述
Barbara Risi,Filomena Caria,Enrica Bertella et al.
Barbara Risi et al.
Background: Pompe disease is a lysosomal storage disorder that primarily affects muscles, and its natural history has been transformed over the past 20 years by therapies designed to restore the deficient enzyme function,...