Results 91 to 100 of about 2,332 (142)

Adult-Onset Hypokalemic Periodic Paralysis With the p.Arg672Cys Variant in the SCN4A Gene: A Case Report. [PDF]

Cureus
Okabe T, Izumi M, Kouno I, Yukisawa S, Matsuda A.   +4 more
europepmc   +1 more source

Recurrent Severe Viral-Induced Rhabdomyolysis Associated With Underlying Genetic Variants in a Young Adult: A Case Report. [PDF]

Cureus
Stone AM, Bunch CM, Gauger A, Seela G, Aboumourad N, Maust J, Picardal A, Roschyk CJ, Gonzales BA, Dollard AC, Abdelghani A, Yakey B, Klever RG, Miller J.   +13 more
europepmc   +1 more source

A clinical prediction rule for myotonia permanens associated with the <i>SCN4A</i> p.Gly1306Glu variant. [PDF]

Curr Res Neurobiol
Polanco DR, Almendras CJ, Lucero ML, Padilla Pérez O, Beytía Reyes MLA, Valdebenito IZ, Muller GB, Henríquez RE, Leal CPV, Rivera MS, Avila-Smirnow D.   +10 more
europepmc   +1 more source

Late-Onset Episodic Weakness With Hyperkalemia Suggestive of Hyperkalemic Periodic Paralysis. [PDF]

Cureus
Pandey HK, Sivakumar K, Gudenkauf KJ, Kadakia R.   +3 more
europepmc   +1 more source

Interference of Small Sequence Variants with MLPA in <i>CLCN1</i>: Implications for Congenital Myotonia Diagnosis. [PDF]

Genes (Basel)
Busacca M, Canioni E, Brugnoni R.
europepmc   +1 more source

Myotonia: Recognition, Evaluation, and Differential Diagnosis. [PDF]

Muscle Nerve
Crayle JI, Al-Lozi M, Miller TM.
europepmc   +1 more source

Somatic Mutation Trajectories Define Prognostically Distinct Subtypes and Shape the Tumor Microenvironment in Gastric Cancer. [PDF]

Genes (Basel)
Shen Y, Pang H, Liu H, Ma P, Liu M, Li Y, Wang Q, Xie X, Zhang X, Zhao Y.   +9 more
europepmc   +1 more source

Hypokalemic Periodic Paralysis Syndrome. [PDF]

Cureus
Govil D, Desai S, Singh K, Soueidan A.
europepmc   +1 more source

Gne-Depletion in C2C12 Myoblasts Leads to Alterations in Glycosylation and Myopathogene Expression. [PDF]

Cells
Neu CT, Antonopoulos A, Dell A, Haslam SM, Horstkorte R.   +4 more
europepmc   +1 more source

Permanent weakness and myopathy in hypokalemic periodic paralysis. [PDF]

Acta Myol
Bossola M, Senatore A, Di Stasio E.
europepmc   +1 more source