All Stories

  1. Neuro-Ophthalmologic Complications of SARS-Cov-2 Infections and Vaccinations
  2. Orphan Peripheral Neuropathies
  3. Detection of compound heterozygous variants in LPIN1 does not necessarily imply pathogenicity in a patient with rhabdomyolysis
  4. Comment on “Proximal Myopathy due to m.5835G>A Mutation in Mitochondrial MT-TY Gene”
  5. Noncompaction and Takotsubo Syndrome in a Neuromuscular Disorder
  6. Pharmacotherapeutic management of epilepsy in MERRF syndrome
  7. Reply to: ‘Advances in imaging of brain abnormalities in neuromuscular disease’
  8. Understanding left ventricular hypertrabeculation/noncompaction: pathomorphologic findings and prognostic impact of neuromuscular comorbidities
  9. Myotonic dystrophy-2: Unusual phenotype due to a small CCTG-expansion
  10. Exome Sequencing: Mutilating Sensory Neuropathy with Spastic Paraplegia due to a Mutation in FAM134B Gene
  11. An update on diagnosis and therapy of metabolic myopathies
  12. Takotsubo syndrome complicated by thrombus formation: is there a need for thrombectomy?
  13. Features on cerebral imaging suggesting mitochondrial disorder
  14. Cerebral imaging in paediatric mitochondrial disorders
  15. Are NO Precursors Truly Effective in MELAS?
  16. Comment on “Role of Mitochondrial Genome Mutations in Pathogenesis of Carotid Atherosclerosis”
  17. Female and male carriers of TAZ mutations need to be thoroughly investigated
  18. TK2-related Myopathic Mitochondrial Depletion Syndrome
  19. Neurohumoral treatment for cardiac disease in dystrophinopathies and mitochondrial disorders
  20. Cerebral Manifestations of Mitochondrial Disorders
  21. Marathoning with myotonic dystrophy type 2 (proximal myotonic myopathy) and leukopenia
  22. Affection of the Respiratory Muscles in Combined Complex I and IV Deficiency
  23. Growth-hormone deficiency in mitochondrial disorders
  24. Phenotypic Heterogeneity of the m.14459G>A Mutation
  25. Early-onset Hirayama disease in a female
  26. Gastrointestinal manifestations of mitochondrial disorders: a systematic review
  27. Propofol Is Mitochondrion-Toxic and May Unmask a Mitochondrial Disorder
  28. Arrhythmogenic Right Ventricular Dysplasia in Neuromuscular Disorders
  29. Mitochondrial Depletion Syndromes
  30. The Eye on Mitochondrial Disorders
  31. Dilative Arteriopathy and Leucencephalopathy as Manifestations of a Neurometabolic Disease
  32. Considerations about the genetics of left ventricular hypertrabeculation/non-compaction
  33. Disorders of the lower cranial nerves
  34. Hypercoagulability in hereditary hemorrhagic telangiectasia with epilepsy
  35. Impaired Hearing in Mitochondrial Disorders
  36. Implications of non-compaction in association with respiratory chain complex-I deficiency
  37. Role of desmoplakin mutations in the pathogenesis of non-compaction
  38. Mitochondrial toxicity of cardiac drugs and its relevance to mitochondrial disorders
  39. Are RYR2 exon-3 deletions truly causative for non-compaction?
  40. Repurposed Drugs in Metabolic Disorders
  41. Apply Awaji-shima Consensus Conference Criteria Before Diagnosing Amyotrophic Lateral Sclerosis
  42. Stroke and Stroke-like Episodes in Muscle Disease
  43. Rhabdomyolysis from ziprasidone after attempted suicide