Results 21 to 30 of about 198,800 (341)
Rehabilitation interventions for foot drop in neuromuscular disease [PDF]
, 2007 "Foot drop" or "Floppy foot drop" is the term commonly used to describe weakness or contracture of the muscles around the ankle joint.
Disler, Peter B. +3 more
core +1 more source
DIAGNOSIS IN NEUROMUSCULAR DISEASES
Neurologic Clinics, 1996 The diagnosis of neuromuscular diseases can be challenging and successful in the majority of patients, due to advancements in electrophysiology, muscle and nerve biopsy immunohistochemistry, and cytogenetics. This article reviews diverse topics, highlighting these recent achievements, with an emphasis on how they affect the clinical and laboratory ...
David S. Younger, Gordon Gilbert
openalex +4 more sources
Early stages of building a rare disease registry, methods and 2010 data from the Belgian Neuromuscular Disease Registry (BNMDR) [PDF]
, 2015 The Belgian Neuromuscular Disease Registry, commissioned in 2008, aims to collect data to improve knowledge on neuromuscular diseases and enhance quality health services for neuromuscular disease patients.
BNMDR Scientific Committee, the +7 more
core +2 more sources
Biomedicines, 2022 The complement system plays a key role in myasthenia gravis (MG). Anti-complement drugs are emerging as effective therapies to treat anti-acetylcholine receptor (AChR) antibody-positive MG patients, though their usage is still limited by the high costs ...
Nicola Iacomino +11 more
doaj +1 more source
Improving translational studies: lessons from rare neuromuscular diseases [PDF]
, 2015 Animal models play a key role in the development of novel treatments for human disease. This is particularly true for rare diseases – defined as disorders that affect less than 1 in 2000 people in the human population – for which, very often, there are ...
Wells, D J
core +3 more sources
BDNF-dependent modulation of axonal transport is selectively impaired in ALS
Acta Neuropathologica Communications, 2022 Axonal transport ensures long-range delivery of essential cargoes between proximal and distal compartments, and is needed for neuronal development, function, and survival.
Andrew P. Tosolini +5 more
doaj +1 more source
A functional motor unit in the culture dish : co-culture of spinal cord explants and muscle cells [PDF]
, 2012 Human primary muscle cells cultured aneurally in monolayer rarely contract spontaneously because, in the absence of a nerve component, cell differentiation is limited and motor neuron stimulation is missing(1). These limitations hamper the in vitro study
Arnold, Anne-Sophie +2 more
core +1 more source
Neuromuscular Diseases and Bone
Frontiers in Endocrinology, 2019 Neuromuscular diseases (NMDs) are inherited or acquired conditions affecting skeletal muscles, motor nerves, or neuromuscular junctions. Most of them are characterized by a progressive damage of muscle fibers with reduced muscle strength, disability, and poor health-related quality of life of affected patients.
Iolascon G +4 more
openaire +5 more sources
Neurology and Therapy, 2023 Background We have aimed to assess whether muscle thickness ultrasound (US) shows differences between patients with chronic inflammatory demyelinating polyneuropathy (CIDP), chronic axonal polyneuropathy (CAP), and other neuromuscular (NM) diseases ...
Sara A. Alnajjar +5 more
doaj +1 more source
Late-onset thymidine kinase 2 deficiency: a review of 18 cases [PDF]
, 2019 BACKGROUND: TK2 gene encodes for mitochondrial thymidine kinase, which phosphorylates the pyrimidine nucleosides thymidine and deoxycytidine. Recessive mutations in the TK2 gene are responsible for the 'myopathic form' of the mitochondrial depletion ...
Caballero Eraso, Candelaria +9 more
core +1 more source