Results 151 to 160 of about 48,192 (208)

Symptomatic and Prophylactic Dantrolene Treatment in a Case of RYR1 -Related Congenital Myopathy. [PDF]

Ann Indian Acad Neurol
Şenol HB, Polat AI, Aydın A, Hız AS, Yiş U.   +4 more
europepmc   +1 more source

L-Carnitine ameliorates congenital myopathy in a tropomyosin 3 de novo mutation transgenic zebrafish. [PDF]

J Biomed Sci, 2021
Hsu PJ, Wang HD, Tseng YC, Pan SW, Sampurna BP, Jong YJ, Yuh CH.   +6 more
europepmc   +1 more source

Phenotypic Heterogeneity in ORAI-1-Associated Congenital Myopathy. [PDF]

Glob Med Genet
Baskar D, Vengalil S, Polavarapu K, Preethish-Kumar V, Arunachal G, Sukrutha R, Bardhan M, Huddar A, Unnikrishnan G, Kulkarni GB, Chickabasaviah YT, Kumar RS, Nalini A, Nashi S.   +13 more
europepmc   +1 more source

Zebrafish and cellular models of SELENON-Congenital myopathy exhibit novel embryonic and metabolic phenotypes. [PDF]

Skelet Muscle
Barraza-Flores P, Moghadaszadeh B, Lee W, Isaac B, Sun L, Hickey ET, Rockowitz S, Sliz P, Beggs AH.   +8 more
europepmc   +1 more source

Loss-of-function variants in JPH1 cause congenital myopathy with prominent facial and ocular involvement. [PDF]

J Med Genet
Johari M, Topf A, Folland C, Duff J, Dofash L, Marti P, Robertson T, Vilchez J, Cairns A, Harris E, Marini-Bettolo C, Hundallah K, Alhashem AM, Al-Owain M, Maroofian R, Ravenscroft G, Straub V.   +16 more
europepmc   +1 more source

Clinical RNA sequencing confirms compound heterozygous intronic variants in RYR1 in a patient with congenital myopathy, respiratory failure, neonatal brain hemorrhage, and d-transposition of the great arteries. [PDF]

Mol Genet Genomic Med, 2021
Shillington A, Zea Vera A, Perry T, Hopkin R, Thomas C, Cooper D, Suhrie K.   +6 more
europepmc   +1 more source

Bi-allelic MYMX variants cause a syndromic congenital myopathy with recognizable facial palsy, growth restriction, and dysmorphism. [PDF]

Eur J Hum Genet
Rahman F, Marsili L, Pasquetti D, Rad A, Nadeem Anjum M, Oprea G, Cheema HA, Vona B, Augusto Alves C, Houlden H, Maqbool S, Efthymiou S, Smol T, Maroofian R.   +13 more
europepmc   +1 more source

Expanding the Spectrum of Congenital Myopathy Linked to Variants in the <i>MYBPC1</i> Gene: A Clinical Report. [PDF]

Neurol Clin Pract
Lanvin PL, Li D, Conrad S, Magot A, Micaelli X, Péréon Y, Vincent M, Isidor B, Sternberg D, McCormick EM, Hakonarson H, Mercier S, Falk MJ.   +12 more
europepmc   +1 more source

Biallelic LINE insertion mutation in HACD1 causing congenital myopathy. [PDF]

Neurol Genet, 2020
Al Amrani F, Gorodetsky C, Hazrati LN, Amburgey K, Gonorazky HD, Dowling JJ.   +5 more
europepmc   +1 more source

Compound Heterozygous RYR1 Variants in a Patient with Severe Congenital Myopathy: Case Report and Comparison with Additional Cases of Recessive RYR1-Related Myopathy. [PDF]

Int J Mol Sci
Janßen S, Erbe LS, Kneifel M, Vorgerd M, Döring K, Lubieniecki KP, Lubieniecka JM, Gerding WM, Casadei N, Güttsches AK, Heyer C, Lücke T, Nguyen HHP, Köhler C, Hoffjan S.   +14 more
europepmc   +1 more source