Results 41 to 50 of about 927 (180)

Skeletal muscle‐specific myostatin overexpression promotes muscle oxidative capacity and fatigue resistance in transgenic mice

Experimental Physiology, Volume 111, Issue 7, Page 3357-3380, 1 July 2026.
Abstract In addition to controlling muscle mass, myostatin may support oxidative metabolism and endurance. Loss of function through gene knockout or post‐natal blockade generally lowers muscle oxidative capacity and increases fatigability. These observations imply that myostatin activation could promote a more oxidative and less fatigable muscle ...
Andy V. Khamoui, Andrea Abraham, Janos Porszasz, Istvan Kovanecz, Silvana Constantinescu, Harry B. Rossiter, Suzanne Reisz‐Porszasz   +6 more
wiley   +1 more source

Nemaline myopathy in a six-month-old pomeranian dog [PDF]

, 2022
Nemaline myopathy - a clinically and genetically complex heterogenous group of disorders - is described uncommonly in humans and rarely in animals, and is characterised by progressive muscle weakness.
Bester, Elizabeth G., Williams, J.H. (June Heather), Botha, W.J., Kitshoff, Adriaan Mynhardt, Du Plessis, Lizette, Van Wilpe, Erna   +5 more
core   +1 more source

Nemaline myopathy diagnosed in two young Border collies in formalin-fixed paraffin-embedded muscle samples using conventional stains

, 2018
Nemaline myopathy (NM) is a congenital neuromuscular disorder with heterogeneous clinical signs such as muscle weakness, affecting humans, seldom dogs and cats. For human NM, several causative gene mutations have been identified.
Klausmann, Stefanie, Sydler, Titus, Beckmann, Katrin, Dettwiler, Martina Andrea, Hilbe, Monika   +4 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

Histopathologic Progression and a Novel Mutation in a Child With Nemaline Myopathy

, 2008
Nemaline myopathy is a clinically heterogeneous congenital myopathy caused by mutations in at least 6 genes related to thin filaments. Histologically, they show a characteristic if not homogeneous picture of nemaline rods, essential for the diagnosis ...
Coons, Stephen, Sivakumar, Kumaraswamy, Bien-Wilner, Ricardo, Johnsen, Stanley, Sambuughin, Nyamkhishig, Ladha, Shafeeq S.   +5 more
core   +1 more source

Nemaline myopathy: clinical, histochemical and immunohistochemical features Miopatia nemalínica: achados clínicos, histoquímicos e imuno-histoquímicos

Arquivos de Neuro-Psiquiatria, 2009
Nemaline myopathy (NM) is a congenital disease that leads to hypotonia and feeding difficulties in neonates. Some cases have a more benign course, with skeletal abnormalities later in life.
Nazah Cherif Mohamad Youssef, Rosana Herminia Scola, Paulo José Lorenzoni, Lineu César Werneck   +3 more
doaj   +1 more source

Congenital myopathy with nemaline rods and cap structures caused by a mutation in the beta-tropomyosin gene (TPM2)

, 2007
OBJECTIVE: To describe the clinical, morphologic, and genetic findings in a family in which one woman had nemaline myopathy, whereas her daughter showed features of cap disease.PATIENTS: A 66-year-old woman and her 35-year-old daughter had congenital ...
Ohlsson, Monica,, Oldfors, Anders,, Tajsharghi, Homa,, Lindberg, Christopher,   +3 more
core   +1 more source

The three-dimensional structure of the nemaline rod Z-band. [PDF]

The Journal of cell biology, 1990
In nemaline myopathy and some cardiac muscles, the Z-band becomes greatly enlarged and contains multiple layers of a zigzag structure similar to that seen in normal muscle. Because of the additional periodicity in the direction of the filament axis, these structures are particularly favorable for three-dimensional analysis since it becomes possible to ...
E P, Morris, G, Nneji, J M, Squire
openaire   +2 more sources

The Diverse Neuromuscular Spectrum of VPS13A Disease

Annals of Clinical and Translational Neurology, Volume 13, Issue 1, Page 157-169, January 2026.
ABSTRACT Objective VPS13A disease (chorea‐acanthocytosis) is a rare neurodegenerative disorder caused by biallelic variants in VPS13A, typically presenting with hyperkinetic movement disorders, while neuromuscular signs are often mild. The aim of the project was to investigate the frequency and severity of neuromuscular impairment in VPS13A disease ...
Anne Buchberger, Evamaria Riedel, Marie Hackenberg, Alexander Mensch, Stefanie Beck‐Woedl, Joohyun Park, Tobias B. Haack, Bernhard Haslinger, Jan Kirschke, Holger Prokisch, Andreas Hermann, Christian Mawrin, Adrian Danek, Benedikt Schoser, Kevin Peikert, Marcus Deschauer, Isabell Cordts   +16 more
wiley   +1 more source

Clinical and Histologic Findings in ACTA1-Related Nemaline Myopathy: Case Series and Review of the Literature

, 2017
BACKGROUND: Nemaline myopathy is a rare congenital disease of skeletal muscle characterized by muscle weakness and hypotonia, as well as the diagnostic presence of nemaline rods in skeletal muscle fibers.
Reed, Umbertina Conti, Carsten Bönnemann, Sandra Donkervoort, Umbertina Conti Reed, Hu, Ying, Osório Abath Neto, Edmar Zanoteli, Bulle Oliveira, Acary Sousa [UNIFESP], Zanoteli, Edmar, Martins Moreno, Cristiane de Araujo, Donkervoort, Sandra, Bonnemann, Carsten, Cristiane de Araújo Martins Moreno, Ying Hu, Neto, Osorio Abath, Acary Sousa Bulle Oliveira   +15 more
core   +1 more source