Results 21 to 30 of about 69,426 (175)
Recent advances in nemaline myopathy [PDF]
, 2021 The nemaline myopathies constitute a large proportion of the congenital or structural myopathies. Common to all patients is muscle weakness and the presence in the muscle biopsy of nemaline rods.
Laitila, Jenni +1 more
core +1 more source
Incidence and Prevalence of Congenital Myopathies - A Population-Based Study From Western Sweden. [PDF]
Ann NeurolObjective Congenital myopathies are a group of rare genetic muscle disorders. Previous studies have estimated point prevalences which only include surviving individuals. Our aim was to perform an epidemiological study with strict inclusion criteria, using modern diagnostic technology to present both incidences and prevalences, and to describe the ...
Michael E +5 more
europepmc +2 more sources
The nonlinear bending-torsion theory for curved rods as Gamma-limit of three-dimensional elasticity [PDF]
, 2006 The problem of the rigorous derivation of one-dimensional models for nonlinearly elastic curved beams is studied in a variational setting. Considering different scalings of the three-dimensional energy and passing to the limit as the diameter of the beam
Scardia, L.
core +8 more sources
Proteomic profiling of sporadic late‐onset nemaline myopathy
Annals of Clinical and Translational Neurology, 2022 Objective To define the proteomic profile of sporadic late‐onset nemaline myopathy (SLONM) and explore its pathogenesis. Methods We performed mass spectrometry on laser‐dissected frozen muscle samples from five patients with SLONM, three of whom with an ...
Elie Naddaf +6 more
doaj +1 more source
Хирургия позвоночника, 2022 Objective. To present a clinical case of a patient with spinal deformity associated with myopathy, which was initially undiagnosed and as- sessed as secondary myopathy after performed spinal surgeries. Material and Methods.
Oksana G. Prudnikova +3 more
doaj +1 more source
Antioxidants, 2023 Nemaline myopathy (NM) is one of the most common forms of congenital myopathy and it is identified by the presence of “nemaline bodies” (rods) in muscle fibers by histopathological examination.
Rocío Piñero-Pérez +12 more
doaj +1 more source
Acta Neuropathologica Communications, 2022 Nemaline myopathy (NM) is a muscle disorder with broad clinical and genetic heterogeneity. The clinical presentation of affected individuals ranges from severe perinatal muscle weakness to milder childhood-onset forms, and the disease course and ...
Clémence Labasse +29 more
doaj +1 more source
Nemaline myopathy diagnosed in two young Border collies in formalin-fixed paraffin-embedded muscle samples using conventional stains [PDF]
, 2018 Nemaline myopathy (NM) is a congenital neuromuscular disorder with heterogeneous clinical signs such as muscle weakness, affecting humans, seldom dogs and cats. For human NM, several causative gene mutations have been identified.
Klausmann, Stefanie +4 more
core +2 more sources
BMC Research Notes, 2009 Background Nemaline myopathy is a neuromuscular disorder characterized by the presence of nemaline bodies in patient muscles. 20% of the cases are associated with α-skeletal muscle actin mutations. We previously showed that actin mutations can cause four
Vandamme Drieke +8 more
doaj +1 more source
BMC Musculoskeletal Disorders, 2023 Background Sporadic late onset nemaline myopathy (SLONM) is a muscle disorder characterized by the presence of nemaline rods in muscle fibers.
Eiji Matsuura +8 more
doaj +1 more source