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Journal Article
CURRENT OPINION IN NEUROLOGY, ISSN 1350-7540, 08/2019, Volume 32, Issue 4, pp. 604 - 609
Purpose of review Our understanding of X-Linked Dystonia-Parkinsonism (XDP) has advanced considerably in recent years because of a wealth of new data... 
SYSTEM | STIMULATION | parkinsonism | BASAL GANGLIA | LUBAG | SINE-VNTR-Alu | NEUROSCIENCES | GENOME | CLINICAL NEUROLOGY | FEATURES | DYT3 | dystonia | DISEASE | DYSFUNCTION | X-Linked Dystonia-Parkinsonism | EXPRESSION | TAF1
Journal Article
The Laryngoscope, ISSN 0023-852X, 01/2020, Volume 130, Issue 1, pp. 171 - 177
Objectives To systematically characterize and describe voice and swallowing manifestations in patients with X‐linked dystonia parkinsonism (XDP) and correlate... 
Dysphagia | functional endoscopic evaluation of swallowing | quality of life | X‐linked dystonia parkinsonism | dysphonia | X-linked dystonia parkinsonism
Journal Article
Cell, ISSN 0092-8674, 02/2018, Volume 172, Issue 5, pp. 897 - 909.e21
X-linked Dystonia-Parkinsonism (XDP) is a Mendelian neurodegenerative disease that is endemic to the Philippines and is associated with a founder haplotype. We... 
DYT3 | XDP | dystonia | transcriptome assembly | retrotransposon | Parkinson’s disease | genome assembly | intron retention | SVA | TAF1 | Parkinson's disease | II ELONGATION RATE | STEM-CELLS | HUMAN-DISEASE | RNA | BIOCHEMISTRY & MOLECULAR BIOLOGY | INTRON RETENTION | GENE-EXPRESSION | INTERFERENCE | SEQUENCING DATA | VARIATION DISCOVERY | CELL BIOLOGY | TATA-Binding Protein Associated Factors - metabolism | Humans | Histone Acetyltransferases - genetics | Nerve Degeneration - genetics | Male | Genetic Loci | Transcription Factor TFIID - metabolism | RNA, Messenger - metabolism | Transcription Factor TFIID - genetics | Haplotypes - genetics | Short Interspersed Nucleotide Elements | Base Sequence | Histone Acetyltransferases - metabolism | Minisatellite Repeats - genetics | Female | Genetic Diseases, X-Linked - genetics | Neurons - metabolism | Alu Elements - genetics | Induced Pluripotent Stem Cells - metabolism | Dystonic Disorders - genetics | Introns - genetics | Alternative Splicing - genetics | RNA, Messenger - genetics | Transcriptome - genetics | TATA-Binding Protein Associated Factors - genetics | CRISPR-Cas Systems - genetics | Nerve Degeneration - pathology | Family | High-Throughput Nucleotide Sequencing | Models, Genetic | Genome, Human | Neural Stem Cells - metabolism | Cohort Studies | Nervous system diseases | Analysis | Genomics | Genetic research | Genetic aspects | Dystonia
Journal Article
Movement Disorders, ISSN 0885-3185, 07/2018, Volume 33, Issue 7, pp. 1108 - 1118
Journal Article
Current Neurology and Neuroscience Reports, ISSN 1528-4042, 11/2010, Volume 10, Issue 6, pp. 431 - 439
The list of genetic causes of syndromes of dystonia parkinsonism grows constantly. As a consequence, the diagnosis becomes more and more challenging for the... 
DJ-1-associated parkinsonism | PARK9 | SENDA syndrome | PARK6 | PARK7 | Neuroferritinopathy | PARK2 | Medicine & Public Health | DYT3 | Parkin-associated parkinsonism | Neurodegeneration with Brain Iron Accumulation (NBIA) | Lubag disease | Kufor-Rakeb disease | DYT16 | Pantothenate kinase-associated neurodegeneration | Rapid-onset dystonia-parkinsonism | DYT12 | PLA2G6 -associated neurodegeneration | Spastic paraplegia with a thin corpus callosum (SPG11) | Dopa-responsive dystonia | PARK15 | Neurology | Wilson’s disease | x-linked dystonia-parkinsonism | PARK14 | PINK1-associated parkinsonism | FBXO7-associated neurodegeneration | SLC6A3 gene | PLA2G6-associated neurodegeneration | Wilson's disease | BRAIN IRON ACCUMULATION | CLINICAL NEUROLOGY | HALLERVORDEN-SPATZ-SYNDROME | KINASE-ASSOCIATED NEURODEGENERATION | THIN CORPUS-CALLOSUM | LOSS-OF-FUNCTION | NEUROAXONAL DYSTROPHY | PINK1 MUTATIONS | NEUROSCIENCES | RECESSIVE JUVENILE PARKINSONISM | EARLY-ONSET PARKINSONISM | Diagnosis, Differential | Dystonic Disorders - genetics | Phenotype | Parkinsonian Disorders - complications | Humans | Parkinsonian Disorders - genetics | Dystonic Disorders - complications | Dystonic Disorders - etiology | Parkinsonian Disorders - etiology | Parkinsonism | Gene mutations | Causes of | Genetic aspects | Diagnosis | Research | Dopaminergic mechanisms | Health aspects
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 2007, Volume 80, Issue 3, pp. 393 - 406
Journal Article
Journal Article