Huntington DiseaseGenes, DominantPedigreeTelangiectasia, Hereditary HemorrhagicMutationGenetic LinkagePhenotypeMutation, MissenseBase SequenceTrinucleotide Repeat ExpansionDNA Mutational AnalysisMolecular Sequence DataTrinucleotide RepeatsChromosomes, Human, Pair 4Polymerase Chain ReactionNerve Tissue ProteinsPolycystic Kidney, Autosomal DominantGenetic Diseases, InbornGenetic TestingAge of OnsetProtoporphyria, ErythropoieticNuclear ProteinsDisease Models, AnimalGenetic MarkersQuinolinic AcidAllelesHeterozygoteMuscular Dystrophy, FacioscapulohumeralExonsGenes, RecessiveCorpus StriatumChoreaChromosome Mapping3-Hydroxyanthranilate 3,4-DioxygenaseRats, TransgenicProdromal SymptomsGenotypeMice, TransgenicNeurodegenerative DiseasesWitchcraftAmino Acid SequenceBrainHaplotypesAtrophyRotarod Performance TestCaudate NucleusHomozygoteNeostriatumTetrabenazineMythologyTRPP Cation ChannelsQuinolinic AcidsLod ScoreDNAPoint MutationPeptidesCloning, MolecularMutant ProteinsRetinitis PigmentosaInclusion BodiesNeuronsGene DosageNerve Fibers, UnmyelinatedGene Knock-In TechniquesGenetic CounselingChromosome BandingDisease ProgressionRestriction MappingPutamenBlotting, SouthernOptic Atrophy, Autosomal DominantDopamine and cAMP-Regulated Phosphoprotein 32LipoylationFamilyHeterozygote DetectionMagnetic Resonance ImagingPolymorphism, Restriction Fragment LengthSequence Homology, Amino AcidPeperomiaEarly DiagnosisMuscular Atrophy, SpinalNitro CompoundsRepetitive Sequences, Nucleic AcidGenetic Predisposition to DiseaseDNA Copy Number VariationsSurvival of Motor Neuron 2 ProteinCell LineDNA, ComplementaryPolycystic Kidney DiseasesFamily HealthCataractCADASILSequence Homology, Nucleic AcidNerve DegenerationSequence Analysis, DNAGene ExpressionSyndromeCognition DisordersGene Expression RegulationSeverity of Illness Index