Results 51 to 60 of about 4,206 (207)

ACTA1‐Related Adult‐Onset Scapuloperoneal Myopathy With Cores and Rods

Neuropathology and Applied Neurobiology, Volume 52, Issue 2, April 2026.
We report a patient with an adult‐onset, slowly progressive, ACTA1‐related scapuloperoneal myopathy with cores and rods, determined by the heterozygous variant NM_001100.4:c.1001C > T, p.(Pro334Leu). The scapuloperoneal phenotype could represent a distinct subcategory, and the characterisation of this patient with a less severe, different clinical ...
Alexandru Caramizaru, Marion Onnée, Sergey Nikitin, Amelia Dobrescu, Gianmarco Severa, Aysylu Murtazina, Andoni Urtizberea, Jean‐Pascal Lefaucheur, Robert‐Yves Carlier, Corinne Metay, Edoardo Malfatti   +10 more
wiley   +1 more source

miRegulome: a knowledge-base of miRNA regulomics and analysis [PDF]

, 2015
miRNAs regulate post transcriptional gene expression by targeting multiple mRNAs and hence can modulate multiple signalling pathways, biological processes, and patho-physiologies.
Azevedo, Vasco, Barh, Debmalya, Barve, Neha, Bhattacharya, Antaripa, Blum, Kenneth, Ghosh, Preetam, Jain, Neha, Juneja, Lucky, Kamapantula, Bhanu, Kumar, Anil, Miyoshi, Anderson, Nalluri, Joseph, Silva, Artur, Tiwari, Sandeep   +13 more
core   +3 more sources

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  

Adult Survival in SMA Type 1: A 23‐Year Journey With Home Ventilation and Multidisciplinary Support

Clinical Case Reports, Volume 14, Issue 3, March 2026.
Diffuse brain atrophy and calvarial hyperostosis in a long‐term survivor of very early onset SMA type 1. ABSTRACT Spinal muscular atrophy (SMA) type 1 is a severe autosomal recessive neuromuscular disorder caused by loss‐of‐function variants in the SMN1 gene, typically leading to death within the first two years without intervention. Long‐term survival
Antonio E. Camelo‐Filho, Renata Monteiro Jovino, Betina S. Tomaz, Paulo R. Nóbrega, Marcelo A. Holanda   +4 more
wiley   +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

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   +1 more source

The dynamics of the β-propeller domain in Kelch protein KLHL40 changes upon nemaline myopathy-associated mutation [PDF]

, 2016
Evolutionarily widespread, functionally and structurally diverse and still largely unexplored, Kelch proteins, characterized by the presence of a conserved C-terminal β-propeller, are implicated in a number of diverse fundamental biological functions ...
BORTOLOTTI, Carlo Augusto, Lambrughi, Matteo, Lucchini, Matteo, PIGNATARO, MARCELLO, Sola, Marco   +4 more
core   +1 more source

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

Calcium Homeostasis in Myogenic Differentiation Factor 1 (MyoD)-Transformed, Virally-Transduced, Skin-Derived Equine Myotubes [PDF]

, 2014
Dysfunctional skeletal muscle calcium homeostasis plays a central role in the pathophysiology of several human and animal skeletal muscle disorders, in particular, genetic disorders associated with ryanodine receptor 1 (RYR1) mutations, such as malignant
A Hovnanian, A Klein, A Margreth, Atsushi Asakura, C Drogemuller, Cesare M. Terracciano, CM Isgren, DR Laver, E Zvaritch, EC McKenzie, EC McKenzie, F Ghassemi, FL Cole, G Avila, G Cherednichenko, Georges Vassaux, GG Harrison, GL Walmsley, H Gissel, H Jungbluth, H Weintraub, H Zhou, H Zhou, H Zhou, HK DiMaio Knych, J Choi, J Fujii, J Garcia, J Huang, J Larsen, J Ma, J Tong, JM Eltit, JM Eltit, JM Healy, JM MacLeay, JR Lopez, JR Lopez, JR Mickelson, K Anderson, K Jurkat-Rott, KP Glahn, L Csernoch, L Lattanzi, LR Lentz, M Aleman, M Fernandez-Fuente, M Fernandez-Fuente, MA Denborough, Marta Fernandez-Fuente, MC Roberts, MG Larach, MH Court, MJ Hull, MM Upjohn, N Dlamini, N Tilgen, NC Voermans, NM Burton, Pilar Martin-Duque, PJ Lynch, PK Dranchak, R Yasin, RA Bannister, RA Bannister, Richard J. Piercy, S Ducreux, S Gyorke, S Hollingworth, Susan C. Brown, T Abe, T Yang, TB Rogers, TC He, TV McCarthy, X Zhao   +75 more
core   +5 more sources

Nemaline myopathy-related skeletal muscle α-actin (ACTA1) mutation, Asp286Gly, prevents proper strong myosin binding and triggers muscle weakness. [PDF]

PLoS ONE, 2012
Many mutations in the skeletal muscle α-actin gene (ACTA1) lead to muscle weakness and nemaline myopathy. Despite increasing clinical and scientific interest, the molecular and cellular pathogenesis of weakness remains unclear.
Julien Ochala, Gianina Ravenscroft, Nigel G Laing, Kristen J Nowak   +3 more
doaj   +1 more source