Results 101 to 110 of about 927 (180)

Ca2+ dysregulation in Ryr1(I4895T/wt) mice causes congenital myopathy with progressive formation of minicores, cores, and nemaline rods. [PDF]

Proc Natl Acad Sci U S A, 2009
Zvaritch E, Kraeva N, Bombardier E, McCloy RA, Depreux F, Holmyard D, Kraev A, Seidman CE, Seidman JG, Tupling AR, MacLennan DH.   +10 more
europepmc   +1 more source

Nemaline cardiomyopathy in a young adult: an ultraimmunohistochemical study and review of the literature

Heart transplantation was performed in a 26-year-old man who suffered from severe dilatative cardiomyopathy. A nemaline myopathy characterized by the accumulation of Z-line material and the formation of rod-like structures had been diagnosed in the ...
Lochmuller H; Muller-Hocker J; Schafer S; Mendel B; Pongratz D
core  

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

A Viewpoint on Reframing Genetic Myopathy Classification: A Unified, Semiotic, Tri-Axis Approach. [PDF]

Ann Indian Acad Neurol
Khadilkar SV, Halani HA.
europepmc   +1 more source

Nemaline Myopathy With a Compound Heterozygous Mutation: A Case Report. [PDF]

Cureus
Chalipat S, Talewad S, Gupta A, Bahal M, Mane SV.   +4 more
europepmc   +1 more source

Relevance of muscle biopsies in the neonatal and early infantile period: a 52 years retrospective study in the gene-sequencing era. [PDF]

Acta Neuropathol Commun
Bui MT, Fernández-Eulate G, Evangelista T, Lacène E, Brochier G, Labasse C, Madelaine A, Chanut A, Beuvin M, Borsato-Levy F, Biancalana V, Barcia G, De Lonlay P, Laporte J, Böhm J, Romero NB.   +15 more
europepmc   +1 more source

Clinical validity of congenital myopathy genes determined by the ClinGen Congenital Myopathies Expert Panel. [PDF]

J Neuromuscul Dis
Ross JE, Flowers M, McNulty S, Patel M, Yang H, Palus B, Abdelmoneim Elnagheeb M, Eng L, Owens E, Beggs AH, Bertini E, D'Amico A, Donkervoort S, Dowling J, Fattori F, Ferreiro A, Genetti CA, Gonorazky H, Lek M, Lindy A, Medne L, Muntoni F, Pajusalu S, Pelin K, Rendu J, Sarkozy A, Vatta M, Winder T, Yoon G, Bönnemann CG, Ceyhan-Birsoy O.   +30 more
europepmc   +1 more source

An Update on Reported Variants in the Skeletal Muscle <i>α</i>-Actin (<i>ACTA1</i>) Gene. [PDF]

Hum Mutat
Clayton JS, Johari M, Taylor RL, Dofash L, Allan G, Monahan G, Houweling PJ, Ravenscroft G, Laing NG.   +8 more
europepmc   +1 more source

Nemaline Myopathy Type 6 Caused by Variants in the KBTBD13 Gene: A Cross-Sectional Study of 24 Patients. [PDF]

Neurol Genet
van Kleef ESB, Bouman K, Molenaar JPF, Küsters B, Groothuis JT, Olivé M, Malfatti E, Kamsteeg EJ, Van Engelen BGM, Ottenheijm CAC, Doorduin J, Voermans NC.   +11 more
europepmc   +1 more source

Effects of Aging on Orbicularis Oculi Muscle Strength and Ultrastructure in Dermatochalasis: A Pilot Study. [PDF]

J Clin Med
Krajewska-Węglewicz L, Felczak P, Dorobek M.   +2 more
europepmc   +1 more source