• 40th ENMC Sponsored International Workshop: Nemaline Myopathy. 2-4 February 1996, Naarden, The Netherlands
• A childhood-onset nemaline myopathy caused by novel heterozygote variants in the nebulin gene with literature review
• A pathogenic mechanism associated with myopathies and structural birth defects involves TPM2-directed myogenesis
• ACTA1 H40Y mutant iPSC-derived skeletal myocytes display mitochondrial defects in an in vitro model of nemaline myopathy
• An integration-free iPSC line (SDQLCHi017-A) derived from a patient with nemaline myopathy-2 disease carrying compound heterozygote mutations in NEB gene
• Autosomal dominantly inherited myopathy likely caused by the TNNT1 variant p.(Asp65Ala)
• Case report: Homozygous variants of <em>NEB</em> and <em>KLHL40</em> in two Arab patients with nemaline myopathy
• Clinico-pathological and gene features of 15 nemaline myopathy patients from a single Chinese neuromuscular center
• Derivation of NEM2 affected human embryonic stem cell line Genea078
• Derivation of NEM2 affected human embryonic stem cell line Genea079
• Derivation of NEM2 affected human embryonic stem cell line Genea080
• Detecting impaired muscle relaxation in myopathies with the use of motor cortical stimulation
• Difficulties of genetic counselling in rare, mainly neurogenetic disorders
• Dropped Head Syndrome As a Presenting Sign of Different Diseases: Report of Three Cases
• Exon skipping caused by splicing mutation in TNNT1 nemaline myopathy
• First applications of a targeted exome sequencing approach in fetuses with ultrasound abnormalities reveals an important fraction of cases with associated gene defects
• Inspiratory Muscle Training in Nemaline Myopathy
• KBTBD13 is a novel cardiomyopathy gene
• Loss-of-rescue of Ryr1^I4895T-related pathology by the genetic inhibition of the ER stress response mediator CHOP
• Nemaline myopathy type 2 (NEM2): two novel mutations in the nebulin (NEB) gene
• Observations of nemaline bodies in muscle biopsies of critically ill patients infected with SARS-CoV-2
• Respiratory muscle function in patients with nemaline myopathy
• Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies
• Sporadic late onset nemaline myopathy
• The Mechanisms of Thin Filament Assembly and Length Regulation in Muscles
• Variants located in intron 6 of <em>SMN1</em> lead to misdiagnosis in genetic detection and screening for SMA