Results 111 to 120 of about 2,278 (204)

Myopathies Associated With Monoclonal Gammopathies of Clinical Significance: A Narrative Review. [PDF]

Cureus
Belkhribchia MR.
europepmc   +1 more source

Nemaline myopathy [PDF]

, 2020
openaire   +1 more source

CARE-compliant case report: Nemaline myopathy caused by the ACTA1 p.Q139H missense mutation. [PDF]

Medicine (Baltimore)
Pei X, Zhai Y, Yang F, Lu W.
europepmc   +1 more source

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

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

Proteomic analysis of nemaline myopathy in infants reveals distinct common dysregulated proteins and cellular pathways. [PDF]

Front Neurol
Hedberg-Oldfors C, Bedir AZ, Visuttijai K, Michael E, Oldfors A.   +4 more
europepmc   +1 more source

Navigating gastrointestinal challenges in genetic myopathies: Diagnostic insights and future directions. [PDF]

World J Methodol
Al-Beltagi M, Saeed N, Bediwy A, Elbeltagi R.   +3 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

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

Human skeletal muscle fiber heterogeneity beyond myosin heavy chains. [PDF]

Nat Commun
Moreno-Justicia R, Van der Stede T, Stocks B, Laitila J, Seaborne RA, Van de Loock A, Lievens E, Samodova D, Marín-Arraiza L, Dmytriyeva O, Browaeys R, Van Vossel K, Moesgaard L, Yigit N, Anckaert J, Weyns A, Van Thienen R, Sahl RE, Zanoteli E, Lawlor MW, Wierer M, Mestdagh P, Vandesompele J, Ochala J, Hostrup M, Derave W, Deshmukh AS.   +26 more
europepmc   +1 more source