Results 11 to 20 of about 5,284 (245)

Coincidence of Nemaline Myopathy and Agenesis of Corpus Callosum in a Newborn Infant: Case Report

Journal of Behçet Uz Children's Hospital, 2019
The diagnosis of the hypotonia at the neonatal period is difficult. In the neonatal period, the differential must include acute illnesses and systemic diseases such as sepsis, congestive heart failure and inborn errors of metabolism. Congenital disorders
Sinem Akbay, Esra Ozer, Ozkan Ilhan, Berat Kanar, Seyma Memur, Gulden Diniz, Dilek Cavusoglu, Nihal Olgaç Dündar   +7 more
doaj   +3 more sources

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy [PDF]

, 2014
Peer ...
Adele D’Amico, Agrawal, Alan H. Beggs, Alla S. Kostyukova, Anders Flisberg, Ann E. Davidson, Annie Laquerrière, Biljana Ilkovski, Brett P. Thomas, Carina Wallgren-Pettersson, Carol C. Gregorio, Carsten G. Bönnemann, Catherine A. Brownstein, Chereau, Christopher T. Pappas, Coen A.C. Ottenheijm, Cooper, Daniel G. MacArthur, Darcée D. Sloboda, David Chitayat, David P. Bick, David S. Gokhin, de Winter, Edoardo Malfatti, Emily J. Todd, Enrico Bertini, Eva Holmberg, Flora Nolent, Gianina Ravenscroft, Gokhin, Granzier, Greenfield, Ichizo Nishino, James J. Dowling, Judith Melki, Jérome Maluenda, Katarina Pelin, Kate G. Quinlan, Kathryn N. North, Kostyukova, Kouyama, Leigh B. Waddell, Lindsay C. Swanson, Livija Medne, Majczenko, Mark J. Daly, Menezes, Michaela Yuen, Monkol Lek, Namrata Gupta, Nanda, Natalia Moroz, Nicole Martin, Nigel F. Clarke, Nigel G. Laing, Norma B. Romero, Ozge Ceyhan-Birsoy, Pablo Lapunzina, Patrick Shannon, Peter J. Houweling, Peter Van den Bergh, Ravenscroft, Ryan, Sarah A. Sandaradura, Sloboda, Stacey B. Gabriel, Stefanie M. Novak, Telfer, Tsukada, Vandana A. Gupta, Velia M. Fowler, Vilma-Lotta Lehtokari, William R. Telfer, Yukiko K. Hayashi   +73 more
core   +3 more sources

Generation of a novel mouse model of nemaline myopathy due to recurrent NEB exon 55 deletion [PDF]

Skeletal Muscle
Biallelic pathogenic variants in the nebulin (NEB) gene lead to the congenital muscle disease nemaline myopathy. In-frame deletion of exon 55 (ΔExon55) is the most common disease-causing variant in NEB.
Zachary Coulson, Justin Kolb, Nesrin Sabha, Esmat Karimi, Zaynab Hourani, Coen Ottenheijm, Henk Granzier, James J. Dowling   +7 more
doaj   +2 more sources

Actin nemaline myopathy mouse reproduces disease, suggests other actin disease phenotypes and provides cautionary note on muscle transgene expression.

PLoS ONE, 2011
Mutations in the skeletal muscle α-actin gene (ACTA1) cause congenital myopathies including nemaline myopathy, actin aggregate myopathy and rod-core disease.
Gianina Ravenscroft, Connie Jackaman, Caroline A Sewry, Elyshia McNamara, Sarah E Squire, Allyson C Potter, John Papadimitriou, Lisa M Griffiths, Anthony J Bakker, Kay E Davies, Nigel G Laing, Kristen J Nowak   +11 more
doaj   +2 more sources

Late-onset myopathy responsive to immunomodulatory treatment: sporadic late-onset nemaline myopathy without nemaline rods? [PDF]

BMJ Neurology Open
Background Late-onset sporadic nemaline myopathy (SLONM) is a rare, treatable or potentially life-threatening muscle disorder that typically manifests late in life and is characterised by the presence of nemaline rods within muscle fibres, serving as the
Menachem Sadeh, Yakov Fellig, Ron Dabby
doaj   +2 more sources

Nemaline Myopathy: A Case Report [PDF]

Case Reports in Neurology, 2021
Generalized weakness in the pediatric and adolescent population is caused by many disorders that affect the neuromuscular axis. As next-generation sequencing (NGS) is becoming of high yield in replacing more invasive procedures, that is, muscle and nerve
Adnan A. Mubaraki
doaj   +2 more sources

CONGENITAL MYOPATHIES – NEMALINE MYOPATHIES [PDF]

Neuromuscular Disorders, 2021
S. Silverstein, S. Syeda, A. Foley, K. Meilleur, M. Leach, P. Uapinyoying, K. Chao, S. Donkervoort, C. Bönnemann   +8 more
  +23 more sources

Clinico-pathological and gene features of 15 nemaline myopathy patients from a single Chinese neuromuscular center. [PDF]

Acta Neurol Belg, 2023
Haidong L, Yin L, Ping C, Xianzhao Z, Qi Q, Xiaoli M, Zheng L, Wenhao C, Yaguang Z, Qianqian Q.   +9 more
europepmc   +3 more sources

A Korean Case of Neonatal Nemaline Myopathy Carrying KLHL40 Mutations Diagnosed Using Next Generation Sequencing [PDF]

Neonatal Medicine, 2021
Nemaline myopathy is a genetically heterogeneous neuromuscular disorder and one of the most common congenital myopathies. The clinical manifestations usually vary depending on the age of onset.
Yoong-a Suh, Young Bae Sohn, Moon Sung Park, Jang Hoon Lee   +3 more
doaj   +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
Abstract figure legend SMPFO uniquely develops data relating to the biophysical state of the sarcomeric protein, alongside global proteome profiling, on a single myofibre basis. Using this approach we found that important myofibre subtype heterogeneity, at both protein function and abundance levels in healthy muscle, is lost or shrunk in myofibres of ...
Seaborne RAE, Moreno-Justicia R, Laitila J, Lewis CTA, Savoure L, Zanoteli E, Lawlor MW, Jungbluth H, Deshmukh AS, Ochala J.   +9 more
europepmc   +2 more sources