Results 321 to 330 of about 245,637 (381)

Tissue‐Specific Regulation of Fatty Acid Metabolism in a Mouse Model of Isolated Complex I Deficiency

open access: yesPROTEOMICS, EarlyView.
ABSTRACT Isolated complex I deficiency (ICD) is commonly associated with mitochondrial diseases and closely mimics subacute necrotising encephalomyelopathy. This disorder is characterised by metabolic perturbations that affect energy metabolism pathways, including fatty acid metabolism.
Sibonelo Glen Khumalo   +2 more
wiley   +1 more source

Pre‐symptomatic risdiplam treatment for spinal muscular atrophy initiated at 12 days post‐birth: 14‐month safety and developmental outcomes

open access: yes
Pediatric Investigation, EarlyView.
Zhihao Sun   +7 more
wiley   +1 more source

Exercise in Neuromuscular Diseases [PDF]

open access: possiblePhysical Medicine and Rehabilitation Clinics of North America, 2012
This article reviews the current knowledge regarding the benefits and contraindications of exercise on individuals with neuromuscular diseases (NMDs). Specific exercise prescriptions for individuals with NMDs do not exist because the evidence base is limited. Understanding the effect of exercise on individuals with NMDs requires the implementation of a
R. Ted Abresch   +3 more
openaire   +2 more sources

Neuromuscular Diseases

Seminars in Neurology, 2009
Neuromuscular diseases are a broadly defined group of disorders that all involve injury or dysfunction of peripheral nerves or muscle. The site of injury can be in the cell bodies (i.e., amyotrophic lateral sclerosis [ALS] or sensory ganglionopathies), axons (i.e., axonal peripheral neuropathies or brachial plexopathies), Schwann cells (i.e., chronic ...
Brett M. Morrison, John W. Griffin
openaire   +3 more sources

Hypoventilation in Neuromuscular Disease [PDF]

open access: possibleSeminars in Respiratory and Critical Care Medicine, 2009
Hypoventilation in neuromuscular disease is attributed to both respiratory muscle weakness and reduced chemoreceptor sensitivity essential in ventilatory drive. Acute or chronic respiratory failure is seen in a spectrum of neuromuscular disease; whereas some are treatable others are progressive and devastating.
Eric J Huang   +2 more
openaire   +2 more sources

Hereditary neuromuscular diseases

European Journal of Radiology, 2001
This article presents the actual classification of neuromuscular diseases based on present expansion of our knowledge and understanding due to genetic developments. It summarizes the genetic and clinical presentations of each disorder together with CT findings, which we studied in a large group of patients with neuromuscular diseases.
Özsarlak, Ö.   +6 more
openaire   +4 more sources

Electrodiagnosis in Neuromuscular Disease

Physical Medicine and Rehabilitation Clinics of North America, 2012
Electromyography (EMG) is an important diagnostic tool for the assessment of individuals with various neuromuscular diseases. It should be an extension of a thorough history and physical examination. Some prototypical characteristics and findings of EMG and nerve conduction studies are discussed; however, a more thorough discussion can be found in the ...
Bethany M. Lipa, Jay J. Han
openaire   +3 more sources

Autoimmunity in Neuromuscular Disease

Annals of the New York Academy of Sciences, 1987
SUMMARY AND CONCLUSIONSA number of confounding factors can be identified from the search for autoimmune mechanisms over the last 2 decades that may be relevant for future studies. (1) An apparently homogeneous clinical disorder may represent more than one disease process and thereby imply antibody/antigen heterogeneity as, for example, in MG with and ...
openaire   +4 more sources

Hyperestrogenemia in neuromuscular diseases

Journal of the Neurological Sciences, 1989
In order to elucidate the relationship between certain neuromuscular diseases and gonadal hormones, we measured the levels of serum estrogens and other sex-related hormones. The values were compared with those for age-matched controls. The cases, comprising bulbospinal muscular disease of the Kennedy-Alter-Sung type, Kugelberg-Welander disease ...
Fusako Usuki   +3 more
openaire   +3 more sources

Exercise in Neuromuscular Disease

Seminars in Neurology, 2014
In this review, the authors present an overview of the role of exercise in neuromuscular disease (NMD). The authors demonstrate that despite the different pathologies in NMDs, exercise is beneficial, whether aerobic/endurance or strength/resistive training. The authors analyze methodological flaws of existing studies and suggest improvements for future
Seniha Inan, Yaacov Anziska
openaire   +3 more sources

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