Results 121 to 130 of about 3,165 (200)

Pathogenic TNNT1 variants are associated with aberrant thin filament compliance and myofibre hyper-contractility. [PDF]

J Physiol
Laitila J, Lewis CTA, Hessel AL, Primiano G, Hernandez-Lain A, Fiorillo C, Lawlor MW, Ottenheijm CAC, Jungbluth H, Man KF, Fornili A, Ochala J.   +11 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

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

Integrated single-cell functional-proteomic profiling reveals a shift in myofibre specificity in human nemaline myopathy: A proof-of-principle study. [PDF]

J Physiol
Seaborne RAE, Moreno-Justicia R, Laitila J, Lewis CTA, Savoure L, Zanoteli E, Lawlor MW, Jungbluth H, Deshmukh AS, Ochala J.   +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

<i>ACTA1</i>-related congenital myopathy in a neonate: a case report and literature review. [PDF]

Front Pediatr
Zhao L, Deng F, Cai B.
europepmc   +1 more source

Vacuolar myopathy associated with lambda light chain myeloma: a case report and review of the literature. [PDF]

BMC Musculoskelet Disord
de Berny Q, Salle V, Renard C, Merle PE, Guilain N, Choukroun G, Morel P, Fourdinier O.   +7 more
europepmc   +1 more source

"Double-hit" precipitates fulminant cardiac dysfunction in a child with homozygous CAP2 variant: a case report. [PDF]

Front Cardiovasc Med
Pan Z, Wan J, Zhou K, Tan M, Li Y.
europepmc   +1 more source

Prevalence and incidence rates of 17 neuromuscular disorders: An updated review of the literature. [PDF]

J Neuromuscul Dis
Deenen JC, Verbeek AL, Verschuuren JJ, van Engelen BG, Voermans NC.   +4 more
europepmc   +1 more source

Parents as First Responders: Experiences of Emergency Care in Children with Nemaline Myopathy: A Qualitative Study. [PDF]

Nurs Rep
Merchán Arjona R, Velarde-García JF, Pacheco Del Cerro E, Meneses Monroy A.   +3 more
europepmc   +1 more source