All Stories

  1. RANK-RANKL Signaling in Cancer of the Uterine Cervix: A Review
  2. Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions
  3. The histopathological spectrum of malignant hyperthermia and rhabdomyolysis due to RYR1 mutations
  4. RANK/RANKL signaling inhibition may improve the effectiveness of checkpoint blockade in cancer treatment
  5. Highly variable ultrastructural findings in KBTBD13-nemaline myopathy (NEM6)
  6. Prognosis and treatment of FOLFOX therapy related interstitial pneumonia: a plea for multimodal immune modulating therapy in the respiratory insufficient patient
  7. Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections
  8. A novel mitochondrial DNA m.7507A>G mutation is only pathogenic at high levels of heteroplasmy
  9. Ventilation-Induced Massive Lethal Air Embolism and Subcutaneous Emphysema in a Patient With a Lung Cavern
  10. What Can We Learn From Assisted Bicycle Training in a Girl With Dystrophinopathy? A Case Study
  11. Experimental treatment of NRAS-mutated neurocutaneous melanocytosis with MEK162, a MEK-inhibitor
  12. Multiple Phenotypes in Phosphoglucomutase 1 Deficiency
  13. Increased Axonal Ribosome Numbers Is an Early Event in the Pathogenesis of Amyotrophic Lateral Sclerosis
  14. Scleroderma-polymyositis overlap syndrome versus idiopathic polymyositis and systemic sclerosis: a descriptive study on clinical features and myopathology
  15. Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa
  16. Erratum: Symptomatic lipid storage in carriers for the PNPLA2 gene
  17. THE IMMUNE RECONSTITUTION INFLAMMATORY SYNDROME: A CAUSE OF DEATH IN PERSONS ON ANTIRETROVIRAL THERAPY?
  18. Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy
  19. Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis
  20. A novel late-onset axial myopathy associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene
  21. Symptomatic lipid storage in carriers for the PNPLA2 gene
  22. Mutations in DDHD2, Encoding an Intracellular Phospholipase A1, Cause a Recessive Form of Complex Hereditary Spastic Paraplegia
  23. Mutations in TPM2 and congenital fibre type disproportion
  24. Brody syndrome: A clinically heterogeneous entity distinct from Brody disease
  25. G.P.103 Brody syndrome: a clinically heterogeneous entity distinct from Brody disease: A review of literature and a cross-sectional clinical study in 17 patients
  26. Mitochondrial DNA m.3242G > A mutation, an under diagnosed cause of hypertrophic cardiomyopathy and renal tubular dysfunction?
  27. Congenital myopathy caused by a novel missense mutation in the CFL2 gene
  28. Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness
  29. Myopathy in a 20-year-old female patient with D4ST-1 deficient Ehlers-Danlos syndrome due to a homozygous CHST14 mutation
  30. Intramuscular fibrous tissue determines muscle echo intensity in amyotrophic lateral sclerosis
  31. Late-onset post-irradiation vasculopathy of the posterior cerebral vasculature
  32. Autosomal Recessive Dilated Cardiomyopathy due to DOLK Mutations Results from Abnormal Dystroglycan O-Mannosylation
  33. Restoration of complex V deficiency caused by a novel deletion in the human TMEM70 gene normalizes mitochondrial morphology
  34. Neuropathology in classical and variant ataxia-telangiectasia
  35. The phenotype of the Gly94fsX222 PMP22 insertion
  36. Mild Muscular Features in Tenascin-X Knockout Mice, A Model of Ehlers–Danlos Syndrome
  37. Increased axonal ribosome numbers in CMT diseases
  38. Dominant Mutations in KBTBD13, a Member of the BTB/Kelch Family, Cause Nemaline Myopathy with Cores
  39. Dominant Mutations in KBTBD13, a Member of the BTB/Kelch Family, Cause Nemaline Myopathy with Cores
  40. Urinary dopamine in aromatic L-amino acid decarboxylase deficiency: The unsolved paradox
  41. Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway
  42. Peripheral Nerve Society Guideline on processing and evaluation of nerve biopsies
  43. A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndrome
  44. Cardiac biplane strain imaging: initialin vivoexperience
  45. Congenital monomelic muscular hypertrophy of the upper extremity
  46. Myopathy and polyneuropathy in an adolescent with the kyphoscoliotic type of Ehlers-Danlos syndrome
  47. Development of the Human Cerebellum and Its Disorders
  48. Metabolische Myopathien – ein Überblick
  49. Deficiency of Dol-P-Man Synthase Subunit DPM3 Bridges the Congenital Disorders of Glycosylation with the Dystroglycanopathies
  50. Neuromuscular features in Marfan syndrome
  51. Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy
  52. Neuromuscular involvement in various types of Ehlers-Danlos syndrome
  53. Skeletal Muscle Ultrasound: Correlation Between Fibrous Tissue and Echo Intensity
  54. Immunohistochemical analysis of the oxidative phosphorylation complexes in skeletal muscle from patients with mitochondrial DNA encoded tRNA gene defects
  55. TDP-43 accumulation is common in myopathies with rimmed vacuoles
  56. SPORADIC LATE-ONSET NEMALINE MYOPATHY EFFECTIVELY TREATED BY MELPHALAN AND STEM CELL TRANSPLANT
  57. Primary temporal bone secretory meningioma presenting as chronic otitis media
  58. Delayed Intrauterine Repair of an Experimental Spina Bifida with a Collagen Biomatrix
  59. Nucleoplasmic LAP2α–lamin A complexes are required to maintain a proliferative state in human fibroblasts
  60. Proteasome-mediated degradation of integral inner nuclear membrane protein emerin in fibroblasts lacking A-type lamins
  61. Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations
  62. A case of neuromuscular mimicry
  63. Distal spinal muscular atrophy as a major feature in adult-onset ataxia telangiectasia
  64. Carbogen Breathing Differentially Enhances Blood Plasma Volume and 5-Fluorouracil Uptake in Two Murine Colon Tumor Models with a Distinct Vascular Structure
  65. Hemorrhagic colloid cyst
  66. Histological Evaluation of Acute Covering of an Experimental Neural Tube Defect with Biomatrices in Fetal Sheep
  67. Macrophage clustering as a diagnostic marker in sural nerve biopsies of patients with CIDP
  68. Recurrent neuropathy associated with Ehlers–Danlos syndrome
  69. Congenital Cataract Facial Dysmorphism Neuropathy Syndrome: A Clinically Recognizable Entity
  70. In utero Repair of an Experimental Neural Tube Defect in a Chronic Sheep Model Using Biomatrices
  71. Development and malformations of the human pyramidal tract
  72. Brain-Thyroid-Lung syndrome: a patient with a severe multi-system disorder due to a de novo mutation in the thyroid transcription factor 1 gene
  73. Acute disseminated encephalomyelitis associated with Borrelia burgdorferi
  74. Bilateral intraneural perineurioma presenting as ulnar neuropathy at the elbow
  75. Nuclear envelope alterations in fibroblasts from LGMD1B patients carrying nonsense Y259X heterozygous or homozygous mutation in lamin A/C gene
  76. Development and developmental disorders of the human cerebellum
  77. Pathogenesis of axonal dystrophy and demyelination in αA-crystallin-expressing transgenic mice
  78. A locus on chromosome 15q for a dominantly inherited nemaline myopathy with core-like lesions
  79. Postnatal cranial ultrasonographic findings in feto-fetal transfusion syndrome
  80. Mutations in the nebulin gene can cause severe congenital nemaline myopathy
  81. MECP2 Mutation in a Boy with Severe Neonatal Encephalopathy: Clinical, Neuropathological and Molecular Findings
  82. A new phenotype of autosomal dominant nemaline myopathy
  83. Drop metastasis from pituitary adenoma
  84. Neuronal Migration Disorders in Man
  85. Peripheral primitive neuroectodermal tumour of the cervix
  86. Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy
  87. NADPH-Diaphorase-Containing Neurons in Cortex, Subcortical White Matter and Neostriatum Are Selectively Spared in Alzheimer’s Disease
  88. The linear naevus sebaceus syndrome
  89. Quiz case of the month
  90. Nemaline myopathy: current concepts. The ENMC International Consortium and Nemaline Myopathy.
  91. Fetal Akinesia Sequence Caused by Nemaline Myopathy
  92. Letter to the Editor. Monosomy X and ompalocele
  93. Clinical and molecular genetic features of congenital spinal muscular atrophy
  94. Pathological findings in a patient with amyotrophic lateral sclerosis and multifocal motor neuropathy with conduction block
  95. Distal myopathy as the presenting manifestation of sarcoidosis.
  96. Neurovascular intact muscle transposition for anal sphincter repair
  97. Deletion in the CMT1A locus on chromosome 17p11.2 in hereditary neuropathy with liability to pressure palsies
  98. Pure autonomic failure: a new case with clinical, biochemical, and necropsy data.
  99. Comments on coggeshall et al., PAIN, 52 (1992) 233–242
  100. Heparan Sulfate Expression Patterns in the Amyloid Deposits of Patients with Alzheimer's and Lewy Body Type Dementia
  101. Paretic ocular bobbing
  102. Purulent meningitis due to aspergillosis in a patient with systemic lupus erythematosus
  103. MELAS: A family with paternal inheritance
  104. Intracranial Meningiomas
  105. Localized 1H NMR Spectroscopy in Fifty Cases of Newly Diagnosed Intracranial Tumors
  106. Polyneuropathy in lithium intoxication
  107. Thickening of Dura Surrounding Meningiomas
  108. Hypothermia in three patients with multiple sclerosis