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Journal Article
Journal of Neuroscience, ISSN 0270-6474, 09/2011, Volume 31, Issue 36, pp. 12790 - 12801
Journal Article
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, ISSN 1552-4841, 10/2015, Volume 168, Issue 7, pp. 573 - 585
Journal Article
Neurobiology of Disease, ISSN 0969-9961, 2016, Volume 96, pp. 271 - 283
Abstract We identified a novel spontaneous mutant mouse showing motor symptoms that are similar to those of the dystonia musculorum ( dt ) mouse. The... 
Neurology | Hereditary sensory and autonomic neuropathy type 6 | Dystonia muscurolum | Neurofilament accumulation | Dystonin | Neurodegeneration | Naturally occurring mutant | MOTOR-NEURONS | RED NUCLEUS | NEUROFILAMENT PROTEIN | BPAG1 LOCUS | BRAIN-STEM | AMYOTROPHIC-LATERAL-SCLEROSIS | NEUROSCIENCES | SUPERIOR COLLICULUS | NEUROLOGIC DEGENERATION | TRANSGENIC MOUSE MODEL | INTERMEDIATE-FILAMENTS | Heredodegenerative Disorders, Nervous System - genetics | Intermediate Filaments - genetics | Reflex, Righting - genetics | Age Factors | Dystonin - genetics | Heredodegenerative Disorders, Nervous System - pathology | Humans | Gene Expression Regulation, Developmental - genetics | Dystonic Disorders - complications | Intermediate Filaments - metabolism | Mice, Neurologic Mutants | Space Perception - physiology | Exploratory Behavior - physiology | Neurons - ultrastructure | Heredodegenerative Disorders, Nervous System - etiology | Neurons - physiology | Dystonic Disorders - pathology | Chromosomes, Human, Pair 1 - genetics | Animals, Newborn | Dystonic Disorders - genetics | Mice, Inbred C57BL | Genotype | Dystonin - metabolism | Microsatellite Repeats - genetics | Motor Activity - genetics | Animals | Intermediate Filaments - ultrastructure | Evoked Potentials, Motor - genetics | Mice | Dystonia | Nucleotide sequencing | Gene mutations | Analysis | Central nervous system | DNA sequencing
Journal Article
Clinical Genetics, ISSN 0009-9163, 10/2014, Volume 86, Issue 4, pp. 373 - 377
The aim of this study was to identify the relative frequency of Huntington's disease (HD) and HD‐like (HDL) disorders HDL1, HDL2, spinocerebellar ataxia type 2... 
HDL1 | neuroferritinopathy | chorea‐acanthocytosis | DRPLA | HDL2 | spinocerebellar ataxia type 2 | HD‐like | Huntington disease | SCA2 | Brazil | benign hereditary chorea | Huntington disease‐like 2 | Huntington disease-like 2 | Spinocerebellar ataxia type 2 | Benign hereditary chorea | Chorea-acanthocytosis | Neuroferritinopathy | HD-like | DIAGNOSIS | PHENOTYPE | GENE | CHOREA | EXPANSION | GENETICS & HEREDITY | HUNTINGTON-DISEASE-LIKE-2 | chorea-acanthocytosis | TRINUCLEOTIDE REPEAT | Heredodegenerative Disorders, Nervous System - genetics | Heredodegenerative Disorders, Nervous System - pathology | Humans | Huntington Disease - pathology | Middle Aged | Dementia - diagnosis | Male | Dementia - epidemiology | Dementia - genetics | Spinocerebellar Ataxias - diagnosis | Adult | Female | Huntington Disease - diagnosis | Chorea - diagnosis | Spinocerebellar Ataxias - genetics | Dementia - pathology | Cognition Disorders - pathology | Spinocerebellar Ataxias - epidemiology | Heredodegenerative Disorders, Nervous System - diagnosis | Cognition Disorders - genetics | Spinocerebellar Ataxias - pathology | Chorea - pathology | Cognition Disorders - diagnosis | Huntington Disease - epidemiology | Phenotype | Chorea - epidemiology | Heredodegenerative Disorders, Nervous System - epidemiology | Huntington Disease - genetics | Trinucleotide Repeat Expansion - genetics | Chorea - genetics | Cognition Disorders - epidemiology | Huntington's chorea | Epidemiology | Neurological disorders | Genetic disorders
Journal Article
Brain Research, ISSN 0006-8993, 01/2018, Volume 1679, pp. 155 - 170
In this study, we analyze the neuropathological and biochemical alterations involved in the pathogenesis of a neurodegenerative/movement disorder during... 
Dopamine metabolism alteration | Dying back neurodegeneration | Myo5a mutation | α-synuclein/tau-P | Autophagy | TEM | Mitochondria complex I-IV | PURKINJE-CELLS | TAU-PROTEIN | COAT COLOR MUTATION | PHOSPHORYLATION | alpha-synuclein/tau-P | MYOSIN-VA MUTATION | ATAXIC MUTANT RAT | NEURODEGENERATION | ALPHA-SYNUCLEIN | NEUROSCIENCES | ANIMAL-MODEL | PARKINSONS-DISEASE | Heredodegenerative Disorders, Nervous System - genetics | Central Nervous System - ultrastructure | Central Nervous System - metabolism | Heredodegenerative Disorders, Nervous System - pathology | alpha-Synuclein - ultrastructure | Central Nervous System - pathology | Myosin Heavy Chains - genetics | tau Proteins - metabolism | Myosin Heavy Chains - metabolism | Phosphorylation - genetics | tau Proteins - genetics | Rats, Mutant Strains | alpha-Synuclein - genetics | Disease Models, Animal | tau Proteins - ultrastructure | Microscopy, Electron, Transmission | 3,4-Dihydroxyphenylacetic Acid - metabolism | Myosin Type V - metabolism | Rats | 3,4-Dihydroxyphenylacetic Acid - analogs & derivatives | Mutation - genetics | Animals | Myosin Type V - genetics | Electron Transport Chain Complex Proteins - metabolism | Heredodegenerative Disorders, Nervous System - metabolism | alpha-Synuclein - metabolism | Nervous system diseases | Metabolites | Gene mutations | Neurons | Resveratrol | Physiological aspects | Genetic aspects | Oxidoreductases
Journal Article