Results 91 to 100 of about 69,426 (175)

A homozygous single-nucleotide variant in <i>TNNT1</i> causes abnormal troponin T isoform expression in a patient with severe nemaline myopathy: A case report. [PDF]

J Neuromuscul Dis
Laarne M, Oghabian A, Laitila J, Isohanni P, Tynninen O, Zhao F, Rostedt F, Sarparanta J, Sagath L, Lawlor MW, Wallgren-Pettersson C, Lehtokari VL, Pelin K.   +12 more
europepmc   +1 more source

READYCOM: protocol for a 2-year prospective natural history and cross-sectional muscle-fatigability study for improving trial readiness in congenital myopathies. [PDF]

BMJ Open
van de Camp SAJH, Brenninkmeijer R, van Doorn JLM, de Laat ECM, Pomp L, Stinissen L, Cameron D, Groothuis JT, van Alfen N, Jungbluth H, Erasmus CE, Bartels B, Wadman RI, Voet NBM, van der Pol WL, Voermans NC.   +15 more
europepmc   +1 more source

An unusual cause of hypertrophic cardiomyopathy in an infant: A case report and brief literature review. [PDF]

Tunis Med
Safi F, Feki M, Ben Hmadou H, Dammak A, Gargouri R, Loukil M, Hammami R.   +6 more
europepmc   +1 more source

Retrospective Cohort Analysis of Clinical, Molecular, and Histopathologic Characteristics of 275 Patients With Nemaline Myopathy. [PDF]

Neurol Genet
Hildebrandt C, Genetti CA, Logvinenko T, Win W, Barraza-Flores P, Hayes LH, Rockowitz S, Lehtokari VL, Iannaccone ST, Darras BT, Topaloglu H, Wallgren-Pettersson C, Beggs AH.   +12 more
europepmc   +1 more source

Generation of a novel mouse model of nemaline myopathy due to recurrent NEB exon 55 deletion. [PDF]

Skelet Muscle
Coulson Z, Kolb J, Sabha N, Karimi E, Hourani Z, Ottenheijm C, Granzier H, Dowling JJ.   +7 more
europepmc   +1 more source

A Case of Nebulin-Related Nemaline Myopathy With Asymmetric Distal Lower Limb Weakness. [PDF]

Cureus
Mizutani H, Misumi Y, Hamanaka K, Tawara N, Miyatake S, Matsumoto N, Ueda M.   +6 more
europepmc   +1 more source

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

Novel missense variants in CFL2 affect F-actin depolymerisation and expand the disease spectrum of CFL2-related myopathy. [PDF]

Hum Mol Genet
Dofash LNH, Folland C, Dyke J, Farhat E, Chaabouni M, Miladi N, Needham M, Lamont PJ, Ashton C, Ravenscroft G.   +9 more
europepmc   +1 more source

Case Report: Overlap syndrome with concurrent polymyositis, masticatory myositis, and lymphocytic thyroiditis in a dog. [PDF]

Front Vet Sci
Crawford-Jennings MI, Moreno RC, Shelton GD, Fowler KM, Vezza CR, Shinn RL, Parker RL, Wilkinson AR.   +7 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