Results 41 to 50 of about 226 (121)
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
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
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
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
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
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
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
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
Muscle &Nerve, Volume 74, Issue 3, Page 756-758, September 2026.
Hiroki Komatsu +12 more
wiley +1 more source
Nemaline Myopathy: Respiratory Failure
Pediatric Neurology Briefs, 1991 A Japanese boy with nemaline myopathy diagnosed at three years of age and complicated by severe respiratory failure at 8 years is reported from the Division of Child Neurology, National Center Hospital for Mental, Nervous, and Muscular Disorders, Kodaira,
J Gordon Millichap
doaj +1 more source