Results 61 to 70 of about 3,165 (200)

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

Evaluating proteasome modulation as a therapeutic strategy in nemaline myopathy [PDF]

, 2017
Nemaline myopathy is a subtype of congenital myopathy that is clinically characterized by muscle weakness and early hypotonia of variable severity. Pathologically, nemaline myopathy is characterized by the presence of nemaline rods that stain purple in ...
Wang, Jeffrey C.
core  

A rare structural myopathy: nemaline myopathy

, 2018
Nemaline myopathy, which is characterized by the accumulation of "rod" bodies in muscle fibers is a very rare inherited muscle disease. According to the underlying mutation, the disease has varying severity of clinical outcomes.
Akkus, Canan Hasbal, Onder Sahin, Petmezci, Mey Talip, Ersoy, Melike, Hasan Serdar Kihtir, Sevketoglu, Esra, Esra Sevketoglu, Serdar Ceylaner, Yesilbas, Osman, Mey Talip Petmezci, Melike Ersoy, Canan Hasbal Akkus, Ceylaner, Serdar, Sahin, Onder, Osman Yesilbas, Kihtir, Hasan Serdar   +15 more
core   +1 more source

Sporadic late onset nemaline myopathy with monoclonal gammopathy of undetermined significance: two cases with long term stability

European Journal of Translational Myology, 2020
Monoclonal gammopathy of undetermined significance (MGUS) associated to sporadic late onset nemaline myopathy (SLONM) is a rare and severely disabling condition of quickly progressive limb girdle acquired myopathy.
André Truffert, Ruxandra Iancu Ferfoglia, Johannes Alexander Lobrinus, Kaveh Samii, André Kohler   +4 more
doaj   +1 more source

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

A Patient With Pyruvate Carboxylase Deficiency and Nemaline Rods on Muscle Biopsy

, 2013
Nemaline rods are the pathologic hallmark of nemaline myopathy, but they have also been described as a secondary phenomenon in a variety of other disorders. Nemaline rods have not been reported in pyruvate carboxylase deficiency before. Here we present a
DURSUN, ALİ, ORHAN, DİCLEHAN, Wibrand, Flemming, Kalkanoglu-Sivri, H. Serap, TOKATLI, AYŞEGÜL, COŞKUN, TURGAY, ÖZTÜRK HİŞMİ, BURCU, Unal, Ozlem, Ostergaard, Elsebet   +8 more
core   +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

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

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

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