Results 91 to 100 of about 927 (180)

Sporadic late-onset nemaline myopathy with cardiomyopathy presenting as advanced heart failure despite autologous stem cell transplantation: a case report. [PDF]

Eur Heart J Case Rep
Guo C, Dou JH, Zhao S, Zhang Y.
europepmc   +1 more source

Aberrations in Energetic Metabolism and Stress-Related Pathways Contribute to Pathophysiology in the Neb Conditional Knockout Mouse Model of Nemaline Myopathy. [PDF]

Am J Pathol, 2023
Slick RA, Tinklenberg JA, Sutton J, Zhang L, Meng H, Beatka MJ, Vanden Avond M, Prom MJ, Ott E, Montanaro F, Heisner J, Toro R, Granzier H, Geurts AM, Stowe DF, Hill RB, Lawlor MW.   +16 more
europepmc   +1 more source

Outcomes in Patients With Immune Checkpoint Inhibitor-Related Myopathy and Prolonged Follow-Up. [PDF]

Neurol Neuroimmunol Neuroinflamm
Segal Y, Mangioris G, Toledano M, Kottschade L, Flanagan EP, McKeon A, Stoff R, Naddaf E, Pittock SJ, Dubey D, Zekeridou A.   +10 more
europepmc   +1 more source

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

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 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

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

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