Results 81 to 90 of about 15,356 (198)
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 +3 more
wiley +1 more source
Abstract This chapter presents a 58-year-old woman with progressive weakness, dysphagia, and dyspnea, ultimately diagnosed with sporadic late-onset nemaline myopathy. She has a complex history that includes antiphospholipid antibody syndrome, pulmonary hypertension, monoclonal gammopathy, positive antinuclear antibody (ANA), and ...
Friedman, Brooke +3 more
openaire +3 more sources
Phenotypes of Myopathy-related Actin Mutants in differentiated C2C12 Myotubes
BMC Cell Biology, 2007 Background About 20 % of nemaline myopathies are thus far related to skeletal muscle alpha-actin. Seven actin mutants located in different parts of the actin molecule and linked to different forms of the disease were selected and expressed as EGFP-tagged
Machesky Laura M +2 more
doaj +1 more source
In Memoriam: W. King Engel, MD (1930–2025) [PDF]
Ann NeurolAnnals of Neurology, Volume 99, Issue 3, Page 563-565, March 2026.
Dalakas M, Ringel S.
europepmc +2 more sources
Nemaline myopathy: description of an adult onset case.
, 2002 Nemaline myopathy is a rare congenital muscle disease, with neonatal or adult onset. We report clinical and ultrastructural study of a 73-year-old woman whose symptoms manifested at age 40 years with proximal muscle weakness, nocturnal cramps, muscle ...
Dotti M +5 more
core +1 more source
What's new in neuromuscular disorders? The congenital myopathies
, 2003 The congenital myopathies are a heterogeneous group of early-onset neuromuscular conditions with characteristic findings on muscle biopsy, comprising central core disease, minicore myopathy (multi-minicore disease), nemaline myopathy and myotubular ...
Sewry, C A +2 more
core +1 more source
Magnetic resonance imaging of muscle in nemaline myopathy
, 2004 We report muscle MRI findings of 10 patients from 8 families with nemaline myopathy. Patients with involvement of the nebulin (NEB) gene showed a consistent pattern of selective muscle involvement corresponding to clinical severity. In mild cases.
Pelin, K +11 more
core +1 more source
PLoS ONE, 2018 Nemaline Myopathy (NM) is a rare genetic disorder that encompasses a large spectrum of myopathies characterized by hypotonia and generalized muscle weakness. To date, mutations in thirteen different genes have been associated with NM. The most frequently
Sarah Moreau-Le Lan +13 more
doaj +1 more source
Modelling myopathies in zebrafish
, 2016 Muscle diseases, or myopathies, are a group of rare congenital diseases that severely incapacitate the patients and in some cases are fatal. Most of these diseases result from mutations in genes that code for proteins of the sarcomere, the contractile ...
Rodrigues Vaz, Raquel
core
Nemaline myopathy type 6: clinical and myopathological features [PDF]
, 2018 Nemaline myopathy (NEM) is one of the most common congenital myopathies. A unique subtype, NEM6, maps to chromosome 15q21-q23 in two pedigrees, but the causative gene has not been determined.
Odgerel, Zagaa +8 more
core +1 more source