Results 131 to 140 of about 4,206 (207)

Nemaline myopathy: reclassification of previously reported variants according to ACMG guidelines, and report of novel genetic variants. [PDF]

Eur J Hum Genet, 2023
Haghighi A, Alvandi Z, Nilipour Y, Haghighi A, Kornreich R, Nafissi S, Desnick RJ.   +6 more
europepmc   +1 more source

Parents as First Responders: Experiences of Emergency Care in Children with Nemaline Myopathy: A Qualitative Study. [PDF]

Nurs Rep
Merchán Arjona R, Velarde-García JF, Pacheco Del Cerro E, Meneses Monroy A.   +3 more
europepmc   +1 more source

Different Mouse Models of Nemaline Myopathy Harboring Acta1 Mutations Display Differing Abnormalities Related to Mitochondrial Biology. [PDF]

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

Nemaline myopathy with scoliosis: a case report. [PDF]

Front Pediatr
Huang J, Zhang C, Li J, Wang H, Cui X, Wang J, Zhang B, Wang X, Lin D, Zhao J, Wen J.   +10 more
europepmc   +1 more source

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

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

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

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

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

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