Related by context. Frequent words. (Click for all words.) 63 autosomal dominant 61 fatal neurodegenerative 60 Leber congenital amaurosis 59 glomerulonephritis 59 developmental abnormalities 59 NF1 59 genetic polymorphisms 59 primary biliary cirrhosis 58 susceptibility gene 58 mitochondrial dysfunction 58 congenital disorders 57 susceptibility genes 57 demyelinating disease 57 FTLD 57 Angelman syndrome 57 neurodevelopmental disorder 57 hemolytic anemia 57 NF2 57 herpes viruses 57 nonsense mutations 57 protein misfolding 57 neurodegenerative disorder 56 #q# [001] 56 degenerative disorder 56 Duchenne muscular dystrophy DMD 56 enteroviruses 56 Retinoblastoma 56 muscular dystrophies 56 hyperparathyroidism 56 dysregulation 56 Pathogenesis 55 AAT deficiency 55 CNVs 55 progressive degeneration 55 transgenic mouse model 55 optic neuropathy 55 prion disease 55 Idiopathic 55 genetic abnormality 55 cardiac hypertrophy 55 Oxidative stress 55 myositis 55 transmissible spongiform encephalopathies 55 micro RNAs 55 molecular mechanisms underlying 55 PANDAS 55 genetic determinants 55 Friedreich ataxia 55 beta thalassemia 55 Hyperthyroidism 55 nephritis 54 neuroendocrine 54 paroxysmal nocturnal hemoglobinuria 54 myotonic dystrophy 54 retinal degeneration 54 mice lacking 54 Congenital 54 tumor suppressor gene 54 apoE 54 Irritable bowel syndrome 54 prion proteins 54 prion diseases 54 thyroid dysfunction 54 genetic defect 54 Helicobacter 54 syndromes 54 mutations 54 neurologic disorders 54 transcriptional regulation 54 parkinsonism 54 chromosomal regions 54 ADAM# 54 pathophysiological 54 myeloproliferative disorders 54 HNPCC 54 progressive neurodegenerative disease 54 hereditary disorder 53 Toxoplasmosis 53 metabolic abnormalities 53 Cushing syndrome 53 Muscular dystrophy 53 neuropsychiatric disorders 53 fatal malady 53 neurodevelopmental disorders 53 brain lesions 53 Mitochondrial 53 nonalcoholic fatty liver 53 neoplasm 53 congenital disorder 53 lung fibrosis 53 Retinopathy 53 mutated gene 53 idiopathic 53 SORL1 53 medulloblastomas 53 progressive degenerative 53 Epstein Barr 53 methylation patterns 53 genetic disorder 53 phenotype 53 genetically inherited