Results 11 to 20 of about 121,131 (263)

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, Paoletta M, Liguori S, Curci C, MORETTI A   +4 more
openaire   +4 more sources

Patient Preferences for Treatments of Neuromuscular Diseases: A Systematic Literature Review

, 2017
BACKGROUND: Treatment decisions of neuromuscular diseases involve weighing clinical benefits and risks, as well as impact on patient social life, work status, other activities of daily living, and health-related quality of life.
Lindgren, P,, Edström, J, Landfeldt, E,, Lochmüller, H   +3 more
core   +1 more source

Skeletal Muscle MicroRNAs: Their Diagnostic and Therapeutic Potential in Human Muscle Diseases [PDF]

, 2016
MicroRNAs (miRNAs) are small 21–24 nucleotide RNAs that are capable of regulating multiple signaling pathways across multiple tissues. MicroRNAs are dynamically regulated and change in expression levels during periods of early development, tissue ...
Alexander, Matthew S., Kunkel, Louis
core   +1 more source

Genetic neuromuscular disease [PDF]

Journal of Neurology, Neurosurgery & Psychiatry, 2002
The clinical practice of neuromuscular disease is currently undergoing enormous change as a direct result of the wealth of recent molecular genetic discoveries. Indeed, the majority of gene discoveries in the area of neurological disease relate to neuromuscular disorders.
Mary M, Reilly, Michael G, Hanna
openaire   +2 more sources

Linking neurogenesis, oligodendrogenesis, and myelination defects to neurodevelopmental disruption in primary mitochondrial disorders

FEBS Letters, EarlyView.
Mitochondrial remodeling shapes neural and glial lineage progression by matching metabolic supply with demand. Elevated OXPHOS supports differentiation and myelin formation, while myelin compaction lowers mitochondrial dependence, revealing mitochondria as key drivers of developmental energy adaptation.
Sahitya Ranjan Biswas, Porter L. Tomsick, Alicia M. Pickrell, Paul D. Morton   +3 more
wiley   +1 more source

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi, Lara Basovic, Christopher Michael McGraw   +2 more
wiley   +1 more source

Clinical Spectrum and Outcomes of SOX1 Antibody‐Associated Paraneoplastic Neurological Syndromes: A Chinese Cohort Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background SOX1 antibody‐positive paraneoplastic neurological syndromes (PNS) exhibit significant population‐specific clinical heterogeneity. While Western cohorts predominantly manifest Lambert‐Eaton myasthenic syndrome (65%–80%), comprehensive clinical characterization and treatment response data in Asian populations remain critically ...
Jin‐Long Ye, Zu‐Ying Kuang, Bo Li, Meng‐Qiu Pan, Li‐Hua Zhou, Yang‐Yang Dai, Si‐Fen Xie, Xian‐Guang Lin, Ye‐Peng Hu, Li‐Hong Jiang, Zhan‐Hang Wang, Wei‐Jing Zhang   +11 more
wiley   +1 more source

Diseases of the neuromuscular junction

Current Opinion in Pharmacology, 2002
The neuromuscular junction is a prototype synapse and it is also the site of well-characterised autoimmune and hereditary disorders. In the presynaptic terminal, voltage-gated potassium channels and voltage-gated calcium channels are subtly altered in genetic disorders and mutations in the enzyme that synthesises acetylcholine have been demonstrated in
McConville, J, Vincent, A
openaire   +3 more sources

Efficacy of Intermittent Theta‐Burst Stimulation for Prolonged Disorders of Consciousness: A Prospective, Randomized, Controlled Trial

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Emerging evidence suggests that low‐frequency neural oscillations are dynamically regulated by consciousness levels, with the recovery of low cortical activity potentially serving as a neurophysiological substrate for conscious emergence. Targeted enhancement of these low‐frequency rhythms in patients with disorders of consciousness
Chuan Xu, Jun Hu, Qianqian Wu, Min Wu, Yamei Yu, Hangcheng Li, Jian Gao, Jingqi Li, Nai Ding, Jie Yu, Benyan Luo   +10 more
wiley   +1 more source

Diagnosing Neuromuscular Diseases [PDF]

, 2018
The field of neuromuscular diseases (NMD) has evolved at an unprecedented speed over the last two decades. Due to advances in molecular genetics, the number of identifiably different diseases has increased and a higher level of complexity has become ...
Alberto L. Dubrovsky
core