Results 101 to 110 of about 1,422 (160)

The Causality Spectrum of Dropped Head Syndrome is Broad and Includes Myopathy, Neurodegenerative Disorders, and Varia. [PDF]

Noro Psikiyatr Ars
Finsterer J, Mehri S.
europepmc   +1 more source

Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes-phenotypes correlations. [PDF]

Genome Med
de Feraudy Y, Vandroux M, Romero NB, Schneider R, Saker S, Boland A, Deleuze JF, Biancalana V, Böhm J, Laporte J.   +9 more
europepmc   +1 more source

Generation of an induced pluripotent stem cell line (NCHi023-A) from a 41-year-old male with nemaline myopathy carrying autosomal dominant ACTA1 c.809-10C>A mutation. [PDF]

Stem Cell Res
Hanley M, Ye S, Zhu J, Yu Y, Lin H, Flanigan K, Rashnonejad A, Zhao MT.   +7 more
europepmc   +1 more source

HIV-associated nemaline myopathy manifesting as bent spine syndrome. [PDF]

BMJ Case Rep
Nasir AZ, Jameson A.
europepmc   +1 more source

Unmasking MEGF10 Myopathy: A Rare Cause of Sudden Respiratory Failure in a Young Adult. [PDF]

Case Rep Neurol Med
Kleiser B, Hackenbruch L, Schittenhelm J, Bornemann A, Haack T, Grimm A, Martin P.   +6 more
europepmc   +1 more source

Myosin inhibition partially rescues the myofiber proteome in X-linked myotubular myopathy. [PDF]

JCI Insight
Gerlach Melhedegaard E, Rostedt F, Gineste C, Seaborne RA, Dugdale HF, Belhac V, Zanoteli E, Lawlor MW, Mack DL, Wallgren-Pettersson C, Hessel AL, Jungbluth H, Laporte J, Saito Y, Nishino I, Ochala J, Laitila J.   +16 more
europepmc   +1 more source

Iron Accumulation and Lipid Peroxidation in Cellular Models of Nemaline Myopathies. [PDF]

Int J Mol Sci
López-Cabrera A, Piñero-Pérez R, Álvarez-Córdoba M, Cilleros-Holgado P, Gómez-Fernández D, Reche-López D, Romero-González A, Romero-Domínguez JM, de la Mata M, de Pablos RM, González-Granero S, García-Verdugo JM, Sánchez-Alcázar JA.   +12 more
europepmc   +1 more source