Results 141 to 150 of about 4,206 (207)

Structural and functional analysis of actin point mutations leading to nemaline myopathy to elucidate their role in actin function. [PDF]

Biophys Rev, 2022
Glyakina AV, Galzitskaya OV.
europepmc   +1 more source

Pediatric Nemaline Myopathy: A Systematic Review Using Individual Patient Data. [PDF]

J Child Neurol, 2022
Christophers B, Lopez MA, Gupta VA, Vogel H, Baylies M.   +4 more
europepmc   +1 more source

Sporadic Late-onset Nemaline Myopathy Associated with Sjögren's Syndrome. [PDF]

Intern Med
Hamaguchi T, Nishino I, Hirano Y, Uchida N, Fujita-Nakata M, Nakanishi M, Sakai T, Asahina M.   +7 more
europepmc   +1 more source

Disruption of cardio-pulmonary coupling in myopathies: Pathophysiological and mechanistic characterization with special emphasis on nemaline myopathy. [PDF]

Front Cardiovasc Med, 2022
Ronderos-Botero DM, Dileep A, Yapor L, Singhal R.   +3 more
europepmc   +1 more source

Nemaline Myopathy Type 6 Caused by Variants in the KBTBD13 Gene: A Cross-Sectional Study of 24 Patients. [PDF]

Neurol Genet
van Kleef ESB, Bouman K, Molenaar JPF, Küsters B, Groothuis JT, Olivé M, Malfatti E, Kamsteeg EJ, Van Engelen BGM, Ottenheijm CAC, Doorduin J, Voermans NC.   +11 more
europepmc   +1 more source

NEB mutations disrupt the super-relaxed state of myosin and remodel the muscle metabolic proteome in nemaline myopathy. [PDF]

Acta Neuropathol Commun, 2022
Ranu N, Laitila J, Dugdale HF, Mariano J, Kolb JS, Wallgren-Pettersson C, Witting N, Vissing J, Vilchez JJ, Fiorillo C, Zanoteli E, Auranen M, Jokela M, Tasca G, Claeys KG, Voermans NC, Palmio J, Huovinen S, Moggio M, Beck TN, Kontrogianni-Konstantopoulos A, Granzier H, Ochala J.   +22 more
europepmc   +1 more source

Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes with coexisting nemaline myopathy: a case report. [PDF]

J Med Case Rep
Gunawardena K, Praveenan S, Dissanayake VHW, Ratnayake P.   +3 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

Nemaline Myopathy in a Hypotonic Neonate: Diagnostic Approach for Early Detection and Management. [PDF]

Cureus
Vu A, Nanda S, Chassee T.
europepmc   +1 more source