Results 141 to 150 of about 48,192 (208)

Mild congenital myopathy due to a novel variation in SPEG gene. [PDF]

Intractable Rare Dis Res, 2021
Yildirim M, Balasar O, Kose E, Dogan MT.
europepmc   +1 more source

Hypercapnic respiratory failure in pregnancy: A rare presentation of a congenital myopathy. [PDF]

Obstet Med
Earl N, Chivers G, Davidson P.
europepmc   +1 more source

Treatment with ActRIIB-mFc Produces Myofiber Growth and Improves Lifespan in the \u3cem\u3eActa1\u3c/em\u3e H40Y Murine Model of Nemaline Myopathy [PDF]

, 2016
Allen, Kenneth P., Beggs, Alan H., Dasgupta, Mahua, Fitts, Robert, Hardeman, Edna C., Hoffmann, Raymond G., Lawlor, Michael W., Liu, Fujun, Meng, Hui, Pearsall, R. Scott, Tinklenberg, Jennifer, Yang, Lin   +11 more
core   +1 more source

Two journeys, one diagnosis: exploring the clinical outcomes of twins with congenital myopathy. [PDF]

BMC Neurol
Pera MC, Pisanò G, Gnazzo M, Moretti S, Gambini L, Percesepe A, Esposito S, Perrone S.   +7 more
europepmc   +1 more source

Improvement of muscle strength in a mouse model for congenital myopathy treated with HDAC and DNA methyltransferase inhibitors. [PDF]

Elife, 2022
Ruiz A, Benucci S, Duthaler U, Bachmann C, Franchini M, Noreen F, Pietrangelo L, Protasi F, Treves S, Zorzato F.   +9 more
europepmc   +1 more source

OXPHOS complex deficiency in congenital myopathy: A systematic review. [PDF]

Eur J Clin Invest
du Preez MJ, Schoonen M, Williams ME, Bisschoff M, van der Westhuizen FH.   +4 more
europepmc   +1 more source

Phenotypic Variability of MEGF10 Variants Causing Congenital Myopathy: Report of Two Unrelated Patients from a Highly Consanguineous Population. [PDF]

Genes (Basel), 2021
AlMuhaizea M, Dabbagh O, AlQudairy H, AlHargan A, Alotaibi W, Sami R, AlOtaibi R, Ali MM, AlHindi H, Colak D, Kaya N.   +10 more
europepmc   +1 more source

MYL1-Related Congenital Myopathy: Clinical, Genetic and Pathological Insights. [PDF]

Neuropathol Appl Neurobiol
Madrigal I, Villar-Vera C, Arca G, Expósito-Escudero J, Rodríguez-Revenga L, Piolatti-Luna A, Muelas N, Vilchez R, Ciutad Celdran M, Codina A, Estévez-Arias B, Carrera-Garcia L, Ortez C, Rodriguez-Carunchio L, Sebastiani G, Azorin I, Nascimento A, Jou C, Vilchez JJ, Natera-de Benito D.   +19 more
europepmc   +1 more source

Pathogenic variants in TNNC2 cause congenital myopathy due to an impaired force response to calcium. [PDF]

J Clin Invest, 2021
van de Locht M, Donkervoort S, de Winter JM, Conijn S, Begthel L, Kusters B, Mohassel P, Hu Y, Medne L, Quinn C, Moore SA, Foley AR, Seo G, Hwee DT, Malik FI, Irving T, Ma W, Granzier HL, Kamsteeg EJ, Immadisetty K, Kekenes-Huskey P, Pinto JR, Voermans N, Bönnemann CG, Ottenheijm CA.   +24 more
europepmc   +1 more source

Disease Trajectories of a Large French Cohort of 142 Congenital Myopathy Patients in Adult Age. [PDF]

Eur J Neurol
Bisciglia M, Severa G, Romero NB, Fardeau M, Rendu J, Stojkovic T, Laforêt P, Eymard B, Ferreiro A, Malfatti E, Béhin A.   +10 more
europepmc   +1 more source