Results 61 to 70 of about 3,762 (237)
Skeletal Muscle Na+ Channel Disorders [PDF]
, 2011 Five inherited human disorders affecting skeletal muscle contraction have been traced to mutations in the gene encoding the voltage-gated sodium channel Nav1.4.
Bendahhou, Saïd, Simkin, Dina
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Clinical Pharmacology &Therapeutics, EarlyView.Traditionally, clinical outcomes measuring how a patient feels, functions, or survives are preferred endpoints in clinical trials; however, some may take a long time to manifest in slowly developing diseases. Biomarkers, if properly validated, can serve as surrogate endpoints, acting as substitutes for clinical outcomes.
Renske Johanna Grupstra +4 more
wiley +1 more source
Developmental Dynamics, EarlyView.Abstract Background The endocannabinoid system is a neuromodulatory system implicated in cellular processes during both development and regeneration. The Mexican axolotl, one of only a few vertebrates capable of central nervous system regeneration, was used to examine the role of the endocannabinoid system in the regeneration of the tail and spinal ...
Michael Tolentino +3 more
wiley +1 more source
Hypokalemic Periodic Paralysis: a case report and review of the literature [PDF]
, 2008 Hypokalemic Periodic Paralysis is one form of Periodic Paralysis, a rare group of disorders that can cause of sudden onset weakness. A case of a 29 year old male is presented here.
AW Kung +13 more
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Fhod3 in zebrafish supports myofibril stability during growth of embryonic skeletal muscle
Developmental Dynamics, EarlyView.Abstract Background Actin filament organization in cardiomyocytes critically depends on the formin Fhod3, but a role for Fhod3 in skeletal muscle development has not yet been described. Results We demonstrate here that in zebrafish mutated for one of two fhod3 paralog genes, fhod3a, skeletal muscle of the trunk appears normal through 2 days post ...
Aubrie Russell +3 more
wiley +1 more source
International Journal of Eating Disorders, EarlyView.ABSTRACT Objective Anorexia nervosa (AN) is a severe eating disorder associated with extreme weight loss, hyperactivity, and amenorrhea. Neuroimaging studies revealed brain atrophy and disruption of white matter integrity in the corpus callosum (CC) of patients with AN. However, the underlying pathophysiological mechanisms remain unclear.
Stephan Lang +9 more
wiley +1 more source
The Genotype and Clinical Phenotype of Korean Patients with Familial Hypokalemic Periodic Paralysis [PDF]
, 2007 Familial hypokalemic periodic paralysis (HOPP) is a rare autosomal-dominant disease characterized by reversible attacks of muscle weakness occurring with episodic hypokalemia.
Bendahhou +29 more
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When Rare Is Not Small: Amyotrophic Lateral Sclerosis Initiatives and Therapy
Exploration, EarlyView.In the precision‐medicine era, rare diseases must not be sidelined in translational infrastructure. The Mr. Cai Lei—led “Ice‐Breaking Team” turns an amyotrophic lateral sclerosis patient community into a sustainable ecosystem, realigning philanthropy, data, and research and development to reshape rare‐disease pipelines and guide precision therapies ...
Yang Liu +6 more
wiley +1 more source
Familial Hypokalemic Periodic Paralysis in Blacks [PDF]
, 1982 Hypokalemic periodic paralysis is an uncommon disease that has rarely been reported in blacks. Historical, clinical, and pathological findings in three black patients, in addition to those previously reported in the literature, suggest that the spectrum ...
Bernstein, Jack M., Kleerekoper, Michael
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Clinical and genetic spectrum of a Chinese cohort with SCN4A gene mutations [PDF]
, 2021 Skeletal muscle sodium channelopathies due to SCN4A gene mutations have a broad clinical spectrum. However, each phenotype has been reported in few cases of Chinese origin.
Hanna, MG +14 more
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