Results 181 to 190 of about 924,459 (214)

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

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

Novel truncating mutations of MYO18B causing congenital myopathy in a Swiss patient. [PDF]

Neurol Genet, 2020
Mihaylova V, Chablais F, Herenger Y, Spiegel R, Heinrich Jung H.   +4 more
europepmc   +1 more source

Case report: Dihydropyridine receptor (CACNA1S) congenital myopathy, a novel phenotype with early onset periodic paralysis. [PDF]

Front Neurol
Aburahma SK, Rousan LA, Shboul M, Biella F, Lucchiari S, Comi GP, Meola G, Pagliarani S.   +7 more
europepmc   +1 more source

Looking for Targets to Restore the Contractile Function in Congenital Myopathy Caused by Gln¹⁴⁷Pro Tropomyosin. [PDF]

Int J Mol Sci, 2020
Karpicheva OE, Simonyan AO, Rysev NA, Redwood CS, Borovikov YS.   +4 more
europepmc   +1 more source

Morphological and functional alterations of neuromuscular synapses in a mouse model of ACTA1 congenital myopathy. [PDF]

Hum Mol Genet
Liu Y, Lin W.
europepmc   +1 more source

Ovine congenital progressive muscular dystrophy (OCPMD) is a model of TNNT1 congenital myopathy. [PDF]

Acta Neuropathol Commun, 2020
Clayton JS, McNamara EL, Goullee H, Conijn S, Muthsam K, Musk GC, Coote D, Kijas J, Testa AC, Taylor RL, O'Hara AJ, Groth D, Ottenheijm C, Ravenscroft G, Laing NG, Nowak KJ.   +15 more
europepmc   +1 more source

Phenotype-Genotype Correlation of a Cohort of Patients with Congenital Myopathy: A Single Centre Experience from India. [PDF]

J Neuromuscul Dis
Harikrishna GV, Padmanabha H, Polavarapu K, Anjanappa RM, Preethish-Kumar V, Nandeesh BN, Vengalil S, Nashi S, Baskar D, Thomas A, Bardhan M, Arunachal G, Menon D, Sanka SB, Manjunath N, Nalini A.   +15 more
europepmc   +1 more source

Cardiac Involvement in LAMA2-Related Muscular Dystrophy and SELENON-Related Congenital Myopathy: A Case Series. [PDF]

J Neuromuscul Dis
Bouman K, van den Heuvel FMA, Evertz R, Boesaard E, Groothuis JT, van Engelen BGM, Nijveldt R, Erasmus CE, Udink Ten Cate FEA, Voermans NC.   +9 more
europepmc   +1 more source

Dominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical cores.

American Journal of Human Genetics, 2012
Karen Majczenko, Ann E. Davidson, S. Camelo-Piragua, Pankaj B. Agrawal, Richard A. Manfready, Xing-Li Li, Sucheta M. Joshi, Ji-Shu Xu, Wei-Ping Peng, A. Beggs, Jun Z. Li, M. Burmeister, J. Dowling   +12 more
semanticscholar   +1 more source