期刊： JOURNAL OF NEUROMUSCULAR DISEASES, 2023; 10 (3)
Background: Spinal muscular atrophy (SMA) is a hereditary motor neuron disorder, characterized by the degeneration of motor neurons and progressive mu......
期刊： JOURNAL OF NEUROMUSCULAR DISEASES, 2023; 10 (4)
Background: Depending on the therapy approach and disease background, the heterogeneity of muscular tissues complicates the development of targeted ge......
期刊： JOURNAL OF NEUROMUSCULAR DISEASES, 2023; 10 (6)
RYR1-related exertional myalgia/rhabdomyolysis (ERM) is an underrecognized condition, which can cause limiting muscle symptoms, and may account for mo......
期刊： JOURNAL OF NEUROMUSCULAR DISEASES, 2023; 10 (6)
期刊： JOURNAL OF NEUROMUSCULAR DISEASES, 2023; 10 (5)
Background: Eating an adequate diet and maintaining a healthy body weight can be challenging for patients with muscular disorders (MD). Starting tube ......
期刊： JOURNAL OF NEUROMUSCULAR DISEASES, 2023; 10 (5)
Background: Attempting discontinuation of treatment in patients with chronic inflammatory demyelinating polyneuropathy (CIDP) is recommended. However,......
期刊： JOURNAL OF NEUROMUSCULAR DISEASES, 2023; 10 (6)
Duchenne muscular dystrophy is a severe, X-linked disease characterized by decreased muscle mass and function in children. Genetic and biochemical res......
期刊： JOURNAL OF NEUROMUSCULAR DISEASES, 2023; 10 (6)
Background: Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with genetic and phenotypic heterogeneity. Pathogenic genetic var......
期刊： JOURNAL OF NEUROMUSCULAR DISEASES, 2023; 10 (5)
Introduction: MRI of extra-ocular muscles (EOM) in patients with myasthenia gravis (MG) could aid in diagnosis and provide insights in therapy-resista......
期刊： JOURNAL OF NEUROMUSCULAR DISEASES, 2023; 10 (1)
Background: Mitochondrial tRNA (MTT) genes are hotspot for mitochondrial DNA mutation and are responsible of half mitochondrial disease. MTT mutations......
期刊： JOURNAL OF NEUROMUSCULAR DISEASES, 2023; 10 (2)
Background: Muscular A-type lamin-interacting protein (MLIP) has a regulatory role in myoblast differentiation and organization of myonuclear position......
期刊： JOURNAL OF NEUROMUSCULAR DISEASES, 2023; 10 (1)
Background: Congenital myopathies are rare neuromuscular disorders presenting with a wide spectrum of clinical features, including long bone fractures......
