Lochmüller Lab

A new issue of the Journal of Neuromuscular Diseases has recently been released. Read it below:

Journal of Neuromuscular Diseases: Volume 7, issue 2

*Hanns is joint editor in chief of the Journal of Neuromuscular Diseases, together with Carsten Bönnemann of the NIH National Institute of Neurological Disorders and Stroke.

Articles:

• Pseudoexons of the DMD gene
• Revised recommendations for the treatment of infants diagnosed with spinal muscular atrophy via newborn screening who have 4 copies of SMN2
• Relationship between eating and digestive symptoms and respiratory function in advanced Duchenne muscular dystrophy patients
• Infants diagnosed with spinal muscular atrophy and 4 SMN2 copies through newborn screening – Opportunity or burden?
• Upregulation of hallmark muscle genes protects Gne M743T/M743T mutated knock-in mice from kidney and muscle phenotype
• Clinical and genetic features in a series of eight unrelated patients with neuropathy due to Glycyl-tRNA Synthetase (GARS) variants
• RESTORE: A prospective multinational registry of patients with genetically confirmed spinal muscular atrophy – Rationale and study design
• Improved criteria for the classification of titin variants in inherited skeletal myopathies
• Characterizing enrollment in observational studies of Duchenne muscular dystrophy by race and ethnicity
• The slipping slipper sign: A poor man’s test for severe diabetic peripheral neuropathy
• Scoliosis surgery significantly impacts motor abilities in higher-functioning individuals with spinal muscular atrophy
• Paramyotonia congenita with persistent distal and facial muscle weakness: A case report with literature review