Results 61 to 70 of about 4,222 (202)

Generation of two isogenic induced pluripotent stem cell lines from a 1-month-old nemaline myopathy patient harbouring a homozygous recessive c.121C > T (p.Arg39Ter) variant in the ACTA1 gene

Stem Cell Research, 2022
Nemaline myopathy (NM) is a congenital skeletal muscle disorder that typically results in muscle weakness and the presence of rod-like structures (nemaline bodies) in the sarcoplasma and/or in the nuclei of myofibres.
Isabella S. Suleski, Robert Smith, Christina Vo, Carolin K. Scriba, Safaa Saker, Thierry Larmonier, Edoardo Malfatti, Norma B. Romero, Peter J. Houweling, Kristen J. Nowak, Nigel G. Laing, Rhonda L. Taylor, Joshua S. Clayton   +12 more
doaj   +1 more source

Congenital muscular dystrophy: from muscle to brain. [PDF]

, 2016
Congenital muscular dystrophies (CMDs) are a wide group of muscular disorders that manifest with very early onset of muscular weakness, sometime associated to severe brain involvement.The histologic pattern of muscle anomalies is typical of dystrophic ...
Corsello G, Falsaperla R, Parano E, Pavone P, Praticò AD, Rizzo R, Ruggieri M, Vitaliti G   +7 more
core   +1 more source

Integrating Chain‐of‐Thought and Retrieval Augmented Generation Enhances Rare Disease Diagnosis From Clinical Notes

Medicine Bulletin, Volume 2, Issue 2, Page 167-183, March 2026.
ABSTRACT Background Several studies show that large language models (LLMs) struggle with phenotype‐driven gene prioritization for rare diseases. These studies typically use Human Phenotype Ontology (HPO) terms to prompt foundation models such as GPT and LLaMA to predict candidate genes.
Zhanliang Wang, Da Wu, Quan Nguyen, Kai Wang   +3 more
wiley   +1 more source

Congenital Nemaline Myopathy

Pediatric Neurology Briefs, 1994
A female neonate with a rapidly fatal course of nemaline myopathy is reported from the University of Siena, Italy.
J Gordon Millichap
doaj   +1 more source

Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms [PDF]

, 2017
We have studied a cohort of nemaline myopathy (NM) patients with mutations in the muscle α-skeletal actin gene (ACTA1). Immunoblot analysis of patient muscle demonstrates increased γ-filamin, myotilin, desmin and α-actinin in many NM patients, consistent
Clement, Sophie, Cooper, Sandra T., Davies, Kay E., Domazetovska, Ana, Ilkovski, Biljana, Laing, Nigel G., Maxwell, Adam L., North, Kathryn N., Nowak, Kristen J.   +8 more
core  

Dystonia Scales for Children: Challenges and Obstacles in DBS Practice

Movement Disorders Clinical Practice, Volume 13, Issue 3, Page 795-799, March 2026.
Abstract Background Dystonia in pediatric patients often coexists with other movement disorders and neurodevelopmental issues. Current rating scales for evaluating pediatric deep brain stimulation (DBS) candidates are not universally applicable and often require a non‐validated combination of the existing scales.
Marcela Montiel, Carolina Gorodetsky, Laura Cif, Nardo Nardocci, Alfonso Fasano   +4 more
wiley   +1 more source

Impact of hematologic complete response in the treatment of sporadic late‐onset nemaline myopathy associated with monoclonal gammopathy

Clinical Case Reports, 2021
Monoclonal gammopathy of undetermined significance (MGUS) may be associated with pathologies with severe neuromuscular manifestations such as sporadic late‐onset nemaline myopathy (SLONM).
Tânia Maia, Rui Bergantim, Henrique Costa, Jorge Pinheiro, Fernanda Trigo   +4 more
doaj   +1 more source

Multi-minicore Disease [PDF]

, 2007
Multi-minicore Disease (MmD) is a recessively inherited neuromuscular disorder characterized by multiple cores on muscle biopsy and clinical features of a congenital myopathy. Prevalence is unknown.
Heinz Jungbluth, AG Engel, C Wallgren-Pettersson, MI Hughes, N Darin, Y Zhang, H Jungbluth, H Jungbluth, A Ferreiro, A Shuaib, H Bonnette, AM Magliocco, AZJ Zeman, A Ferreiro, RB Fitzsimons, KP Rimmer, PW Rowe, H Jungbluth, M Swash, GK van Wijngaarden, PH Gordon, H Jungbluth, N Monnier, A Ferreiro, H Jungbluth, H Jungbluth, E Mercuri, MA Denborough, BM Koch, H Osada, V Barone, S Guis, J Bethlem, AN Bender, AKW Brownell, JA Vanneste, L Paljaervi, T Yoshida, B Moghadaszadeh, RC McKenzie, N Petit, M Deniziak, H Zhou, NB Romero, MS Phillips, G Meissner, T Wagenknecht, S Treves, S Wu, J Tong, RT Dirksen, S Ducreux, H Zhou, F Zorzato, V Dubowitz, CA Sewry, S Jongpiputvanich, CA Sewry, CG Bonnemann, M Herasse, H Jungbluth, P Nurenberg, JF Pellissier, I Tein, M Ohkubo, AE Chudley, YS Lee, N Hulsmann, JM Vallat, C Thomas, PC Scacheri, N Monnier, H Jungbluth, AM Kaindl, V Carmignac, E Bertini, SL Maidment, MAAP Willemsen, UJM Hagberg, C Wallgren-Pettersson, MA Denborough, S Messina   +81 more
core   +2 more sources

In Vivo Function of the Chaperonin TRiC in α-Actin Folding during Sarcomere Assembly

Cell Reports, 2018
Summary: The TCP-1 ring complex (TRiC) is a multi-subunit group II chaperonin that assists nascent or misfolded proteins to attain their native conformation in an ATP-dependent manner.
Joachim Berger, Silke Berger, Mei Li, Arie S. Jacoby, Anders Arner, Navid Bavi, Alastair G. Stewart, Peter D. Currie   +7 more
doaj   +1 more source

Cellular and molecular mechanisms underlying muscular dystrophy [PDF]

, 2014
The muscular dystrophies are a group of heterogeneous genetic diseases characterized by progressive degeneration and weakness of skeletal muscle. Since the discovery of the first muscular dystrophy gene encoding dystrophin, a large number of genes have ...
Kunkel, Louis M., Rahimov, Fedik
core   +1 more source