Results 41 to 50 of about 2,179 (131)
Shoulder Rotation Test: A New Test for Discriminating Between Functional and Structural Weakness
Brain and Behavior, Volume 16, Issue 4, April 2026.We introduce the shoulder rotation test, a simple bedside test combining the MRC scoring of shoulder internal rotation (IR) and external rotation (ER), for discriminating between functional weakness (FW) and structural weakness (SW) of the upper limbs.
Takamichi Kanbayashi, Masahiro Sonoo
wiley +1 more source
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 +4 more
doaj +1 more source
Clinical Genetics, Volume 109, Issue 4, Page 772-777, April 2026.CRISPR activation of NEB in fibroblasts, followed by RNA‐sequencing, documents spliceogenic effects of a NEB intronic variant. The assay enabled variant reclassification as likely pathogenic, providing molecular diagnosis in fetuses with Arthrogryposis multiplex congenita 6.
Doriana Misceo +7 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 +7 more
doaj +1 more source
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 +10 more
wiley +1 more source
Dominantly Inherited Nemaline Myopathy
Pediatric Neurology Briefs, 2003 A locus on chromosome 15q21-23 for a dominantly inherited nemaline myopathy with core-like lesions is reported in two unrelated families evaluated at University Medical Center, Nijmegen, The Netherlands.
J Gordon Millichap
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Nemaline Myopathy: Clinical Study
Pediatric Neurology Briefs, 2001 Clinical and genetic characteristics, prognostic risk factors, and classification of nemaline myopathy (NM) are examined in a study of 143 cases identified at two centers in Australia and North America and reported from the Neurogenetics Research Unit ...
J Gordon Millichap
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 +4 more
wiley +1 more source
Rare nemaline myopathy (a case report)
Гений oртопедии, 2022 Introduction Nemaline myopathies (NM) are a group of neuromuscular diseases, the distinctive histological feature of which are nemaline rods in myosymplasts.
Nikolai S. Migalkin +3 more
doaj +1 more source
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