Results 141 to 150 of about 11,986 (188)

Malignant Hyperthermia in Slavonic cohort - clinical and genetic findings beyond standard diagnostics. [PDF]

Orphanet J Rare Dis
Klincová M, Zídková J, Réblová K, Štěpánková D, Schröderová I, Gaillyová R, Bönischová T, Havránková N, Tomášková V, Kramářová T, Fajkusová L, Štourač P.   +11 more
europepmc   +1 more source

RYR1 Pathogenic Variant in a Patient With Overlapping Features of Brugada Syndrome and Arrhythmogenic Cardiomyopathy. [PDF]

JACC Case Rep
Saplaouras A, Koskina S, Mililis P, Kariki O, Bazoukis G, Antonakaki D, Bouzarelou D, Nyktari E, Efremidis M, Letsas KP.   +9 more
europepmc   +1 more source

Aerobic exercise partially improves the skeletal muscle phenotype in a model of heart failure with preserved ejection fraction in male mice. [PDF]

Physiol Rep
Martínez Martínez C, Fragoso Medina J, Bravo Sánchez E, Nieblas B, Saavedra Molina A, Cortés Rojo C, Manzo Ávalos S, García N, Montoya Pérez R.   +8 more
europepmc   +1 more source

Importance of the early recognition, early suspicion, and early treatment for malignant hyperthermia crisis: two case reports. [PDF]

World J Emerg Med
Hu C, Song W, Lin H, Wu Y, Fu G, Lin D.
europepmc   +1 more source

Whole Genome Sequence Identifies the Second Allele: An Intronic Variant in RYR1 Contributes to Early-Onset Fetal Akinesia Deformation Sequence. [PDF]

Mol Syndromol
Wang M, Hong J, Han S, Jin P, Xu C, Qian Y, Dong M.   +6 more
europepmc   +1 more source

Glycogenin-1 deficiency: a case report and review of the literature. [PDF]

Front Genet
Molitierno N, Velardo D, Salvucci G, Abati E, Tumminello G, Ripolone M, Zanotti S, Napoli L, Ciscato P, Sciacco M, Comi GP, Corti S, Ronchi D.   +12 more
europepmc   +1 more source

Tubular Aggregate Myopathies: Genetic Heterogeneity and Diverse Clinical Features Converging on Calcium Dysregulation. [PDF]

Cells
Serano M, Fiore F, Sorrentino V, Rossi D.   +3 more
europepmc   +1 more source

The Clinical, Histological, and Genetic Spectrum of <i>RYR1</i> Variants-A Multi-Center Israeli Cohort Study. [PDF]

J Clin Med
Ginsberg M, Michelson M, Aharoni S, Sagie L, Michaeli Y, Rotenberg D, Finkelshtein V, Yosovich K, Argov Z, Nissenkorn A, Lev D, Sadeh M, Dabby R.   +12 more
europepmc   +1 more source

Monogenic Syndromes as a Cause of Adverse Drug Reactions in the Russian Population. [PDF]

Int J Mol Sci
Buianova AA, Cheranev VV, Shmitko AO, Vasiliadis IA, Samitova AF, Suchalko ON, Repinskaia ZA, Kuznetsov MI, Belova VA, Korostin DO.   +9 more
europepmc   +1 more source

Mitochondrial dysfunction in hyperkalemic periodic paralysis: A case report and literature review. [PDF]

BMC Pediatr
Mikhael FG, Yatim AS, El-Khoury R, Karam PE.   +3 more
europepmc   +1 more source