Results 91 to 100 of about 2,179 (131)

ACTA1 H40Y mutant iPSC-derived skeletal myocytes display mitochondrial defects in an in vitro model of nemaline myopathy. [PDF]

Exp Cell Res, 2023
Gartz M, Haberman M, Sutton J, Slick RA, Luttrell SM, Mack DL, Lawlor MW.   +6 more
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

HTLV-1-associated myelopathy/tropical spastic paraplegia with sporadic late-onset nemaline myopathy: a case report. [PDF]

BMC Musculoskelet Disord, 2023
Matsuura E, Nozuma S, Shigehisa A, Dozono M, Nakamura T, Tanaka M, Kubota R, Hashiguchi A, Takashima H.   +8 more
europepmc   +1 more source

Nemaline Myopathy With a Compound Heterozygous Mutation: A Case Report. [PDF]

Cureus
Chalipat S, Talewad S, Gupta A, Bahal M, Mane SV.   +4 more
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

Nutritional status of patients with nemaline myopathy and related congenital myopathies in Finland: A pilot study. [PDF]

J Neuromuscul Dis
Lehtokari VL, Similä M, Tammepuu M, Isohanni P, Auranen M, Hiekkala S, Wallgren-Pettersson C, Strang-Karlsson S.   +7 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

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

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

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