Results 61 to 70 of about 226 (121)

Mechanistic Insights Into NFIX‐Mediated DNA Recognition and Transcriptional Regulation in Skeletal Muscle

Smart Medicine, Volume 5, Issue 1, February 2026.
An atomic view of the NFIX–DNA complex reveals recognition of the TGGCA motif and links sequence‐specific binding to the transcriptional programs governing skeletal muscle development and disease. ABSTRACT Skeletal muscle is essential for voluntary movement and exhibits a remarkable capacity for regeneration following injury.
Ci Zhu, Shuang Liu, Xi Chen, Chengxiao Qin, Yueyu Wang, Chunchun Xue, Lingxing Li, Wenlan Du, Xin Chen, Xiaofeng Li, Jie Shen, He Song   +11 more
wiley   +1 more source

KLHL41 stabilizes skeletal muscle sarcomeres by nonproteolytic ubiquitination

eLife, 2017
Maintenance of muscle function requires assembly of contractile proteins into highly organized sarcomeres. Mutations in Kelch-like protein 41 (KLHL41) cause nemaline myopathy, a fatal muscle disorder associated with sarcomere disarray.
Andres Ramirez-Martinez, Bercin Kutluk Cenik, Svetlana Bezprozvannaya, Beibei Chen, Rhonda Bassel-Duby, Ning Liu, Eric N Olson   +6 more
doaj   +1 more source

A case of acute hypercapnic respiratory failure secondary to late onset nemaline rod myopathy: A multi-disciplinary approach

Respiratory Medicine Case Reports
Background: Nemaline rod myopathy (NRM) is a rare muscle disorder defined by muscle weakness, respiratory insufficiency, and dysphagia. Respiratory muscle involvement can lead to acute hypercapnic respiratory failure, posing significant challenges in ...
Chandana Madala, Srilakshmi Giridharan, Dr Anthony Vacchio   +2 more
doaj   +1 more source

Nemaline myopathy.

Archives of pathology & laboratory medicine, 1978
Nemaline myopathy occurred sporadically in a 59-year-old woman. She had slowly progressive weakness. A muscle biopsy specimen showed nemaline rods, increased variation in fiber size, apparent loss of Type IIb fiber differentiation, and a "moth-eaten" pattern of the intermyofibrillar network.
S M, Greenwood, F J, Viozzi
openaire   +3 more sources

Molecular classification of nemaline myopathies: “nontyping” specimens exhibit unique patterns of gene expression

Neurobiology of Disease, 2004
Nemaline myopathy (NM) is a slowly progressive or nonprogressive neuromuscular disorder caused by mutations in genes encoding skeletal muscle sarcomeric thin filament proteins. It is characterized by great heterogeneity at the clinical, histopathological,
Despina Sanoudou, Leslie A. Frieden, Judith N. Haslett, Alvin T. Kho, Steven A. Greenberg, Isaac S. Kohane, Louis M. Kunkel, Alan H. Beggs   +7 more
doaj   +1 more source

In Memoriam: W. King Engel, MD (1930–2025)

Annals of Neurology, Volume 99, Issue 3, Page 563-565, March 2026.
Marinos C. Dalakas, Steven P. Ringel
wiley   +1 more source

Failure to identify modifiers of NEBULIN-related nemaline myopathy in two pre-clinical models of the disease

Biology Open, 2019
Nemaline myopathy is a rare neuromuscular disorder that affects 1 in 50,000 live births, with prevalence as high as 1 in 20,000 in certain populations.
Boyang Qiu, Julie Ruston, Henk Granzier, Monica J. Justice, James J. Dowling   +4 more
doaj   +1 more source

Triggering typical nemaline myopathy with compound heterozygous nebulin mutations reveals myofilament structural changes as pathomechanism

Nature Communications, 2020
Nebulin-based nemaline myopathy is a heterogenous disease with unclear pathological mechanisms. Here, the authors generate a mouse model that mimics the most common genetic cause of the disease and demonstrate that muscle weakness in this model is ...
Johan Lindqvist, Weikang Ma, Frank Li, Yaeren Hernandez, Justin Kolb, Balazs Kiss, Paola Tonino, Robbert van der Pijl, Esmat Karimi, Henry Gong, Josh Strom, Zaynab Hourani, John E. Smith, Coen Ottenheijm, Thomas Irving, Henk Granzier   +15 more
doaj   +1 more source

Nemaline myopathy: A report of four cases

Annals of Indian Academy of Neurology, 2007
Nemaline myopathies are a group of genetically determined (autosomal dominant/recessive) congenital myopathies characterized by the formation of nemaline rods within muscle fibers.
Deepti A, Gayathri N, Veerendra Kumar M, Shankar Susarla   +3 more
doaj  

Clinical and Pathological Features of Childhood-Onset Nemaline Myopathy: A Report of Four Cases

Case Reports in Medicine, 2012
We examined whether immunological abnormalities can be found in the specimens of four childhood-onset nemaline myopathy (NM) patients without autoimmune diseases. Pathological examination revealed that nemaline rods were found in all specimens.
Chao Jiang, Jianping Wang, Haidong Lu
doaj   +1 more source