Associated Papers
Structural variation in nebulin and its impact on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions.
Sagath L et al.
European Journal of Human Genetics : Ejhg, 2025
Retrospective Cohort Analysis of Clinical, Molecular, and Histopathologic Characteristics of 275 Patients With Nemaline Myopathy.
Hildebrandt C et al.
Neurology. Genetics, 2025
Generation of prostate cancer assembloids modeling the patient-specific tumor microenvironment.
Lee J et al.
Plos Genetics, 2025
A Case of Nebulin-Related Nemaline Myopathy With Asymmetric Distal Lower Limb Weakness.
Mizutani H et al.
Cureus, 2025
Structural variation in nebulin and its implications on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions.
Sagath L et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Genetic Manifestations and Phenotype Spectrum in Infants With Feeding Difficulty.
Han M et al.
Molecular Genetics & Genomic Medicine, 2024
Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes-phenotypes correlations.
de Feraudy Y et al.
Genome Medicine, 2024
Nemaline myopathy: reclassification of previously reported variants according to ACMG guidelines, and report of novel genetic variants.
Haghighi A et al.
European Journal of Human Genetics : Ejhg, 2023
Clinical Manifestation of Nebulin-Associated Nemaline Myopathy.
Moreno CAM et al.
Neurology. Genetics, 2023
Nemaline Myopathy in Brazilian Patients: Molecular and Clinical Characterization.
Gurgel-Giannetti J et al.
International Journal of Molecular Sciences, 2022
Clinical and genetic features of infancy-onset congenital myopathies from a Chinese paediatric centre.
Zhang Y et al.
Bmc Pediatrics, 2022
Incorporating Spinal Muscular Atrophy Analysis by Next-Generation Sequencing into a Comprehensive Multigene Panel for Neuromuscular Disorders.
Tan CA et al.
Genetic Testing and Molecular Biomarkers, 2020
Mutational and clinical spectrum in a cohort of Chinese patients with hereditary nemaline myopathy.
Wang Q et al.
Clinical Genetics, 2020
RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy.
Hamanaka K et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
New massive parallel sequencing approach improves the genetic characterization of congenital myopathies.
Oliveira J et al.
Journal of Human Genetics, 2016
Bilateral foot-drop as predominant symptom in nebulin (NEB) gene related "core-rod" congenital myopathy.
Malfatti E et al.
European Journal of Medical Genetics, 2015
Mutation update: the spectra of nebulin variants and associated myopathies.
Lehtokari VL et al.
Human Mutation, 2014