Results 61 to 70 of about 69,426 (175)
Centronuclear Myopathy with Abundant Nemaline Rods in a Japanese Black and Hereford Crossbred Calf [PDF]
application/pdfHistopathological examination was performed on skeletal and diaphragmatic muscles from an 8-month-old male crossbred calf showing abnormal gait and tremor of the hindlimbs.
Ishihara, Kousuke +8 more
core +1 more source
OXPHOS complex deficiency in congenital myopathy: A systematic review
European Journal of Clinical Investigation, Volume 55, Issue 11, November 2025.This systematic review assessed oxidative phosphorylation (OXPHOS) complex dysfunction in genetically confirmed congenital myopathies (CM). Among 5841 studies screened, 23 publications, comprising 45 CM cases, met the inclusion criteria. OXPHOS dysfunction was identified in 78% of cases, particularly where enzymology was performed, with RYR1 most ...
Megan J. du Preez +4 more
wiley +1 more source
Clinical Genetics, Volume 108, Issue 3, Page 266-278, September 2025.Our Translational Loop integrates patient genetic data with Drosophila models to study disease mechanisms. We identified ACO2 variants in a patient linked to ICRD and show that our animal model mirrors key aspects of the disease. These insights help pinpoint therapeutic targets, advancing research toward treatments for rare genetic disorders.
Edgar Buhl +15 more
wiley +1 more source
Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases
Annals of Clinical and Translational Neurology, Volume 12, Issue 7, Page 1465-1479, July 2025.ABSTRACT Objective Approximately half of patients with hereditary myopathies remain without a definitive genetic diagnosis after DNA next‐generation sequencing (NGS). Here, we implemented transcriptome analysis of muscle biopsies as a complementary diagnostic tool for patients with muscle disease but no definitive genetic diagnosis after exome ...
Alba Segarra‐Casas +24 more
wiley +1 more source
Prevalence of function‐limiting late effects in survivors of head and neck cancer
PM&R, Volume 17, Issue 6, Page 654-662, June 2025.Abstract Background Survivors of head and neck cancer (HNC) are commonly affected by multiple complex and interrelated long‐term and late effects that can adversely affect their function and quality of life. Objective To define the prevalence of neuromuscular, musculoskeletal, visceral, oncologic, and other late effects affecting function and quality ...
Yu Hui Won, Michael D. Stubblefield
wiley +1 more source
Geometry and equilibria of parallel bundles of elastic rods [PDF]
, 2006 Geometrical conditions of existence of curved bundles of hexagonally packed rods are presented.Closure of the bundle results in a group of automorphisms of the cross-sectional lattice.
Starostin, E
core
Clinical course correlates poorly with muscle pathology in nemaline myopathy
, 2003 Objective: To report pathologic findings in 124 Australian and North American cases of primary nemaline myopathy. Methods: Results of 164 muscle biopsies from 124 Australian and North American patients with primary nemaline myopathy were reviewed ...
De Girolami, U +14 more
core
Nemaline rod myopathy treated with L-tyrosine to relieve symptoms in a neonate
, 2019 Nemaline myopathy (NM) is a heterogeneous disorder defined by the presence of rod-shaped structures known as nemaline bodies or rods. The diagnosis is based on muscle weakness, combined with visualization of nemaline bodies on muscle biopsy.
Bidev, Duygu +5 more
core +1 more source
Spinal Deformity in Congenital Myopathies
Indian Spine JournalCongenital myopathy (CM) is a group of rare genetic disorders characterized by hypotonia, hyporeflexia, and weakness present at birth. The condition is estimated to affect between 0.7 and 4.4 per 100,000 children.
Thomas Coleman, Patrick J. Cahill
doaj +1 more source
Zebrafish models for nemaline myopathy reveal a spectrum of nemaline bodies contributing to reduced muscle function [PDF]
, 2015 Nemaline myopathy is characterized by muscle weakness and the presence of rod-like (nemaline) bodies. The genetic etiology of nemaline myopathy is becoming increasingly understood with mutations in ten genes now known to cause the disease.
Aminah Giousoh +57 more
core +1 more source