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dystonia (13) 13
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1. Full Text Role of Gα(olf) in familial and sporadic adult-onset primary dystonia
by Vemula, Satya R and Puschmann, Andreas and Xiao, Jianfeng and Zhao, Yu and Rudzińska, Monika and Frei, Karen P and Truong, Daniel D and Wszolek, Zbigniew K and LeDoux, Mark S and Lund University and Klinisk neurogenetik and Neurologi, Lund and MultiPark: Multidisciplinary research focused on Parkinson´s disease and Clinical Neurogenetics and Neurology, Lund and Lunds universitet
Human Molecular Genetics, ISSN 0964-6906, 06/2013, Volume 22, Issue 12, pp. 2510 - 2519
The vast majority of patients with primary dystonia are adults with focal or segmental distribution of involuntary movements. Although ~10% of probands have at... 
Amino Acid Sequence | Dystonic Disorders - genetics | European Continental Ancestry Group - genetics | GTP-Binding Protein alpha Subunits - metabolism | GTP-Binding Protein alpha Subunits - chemistry | Humans | Middle Aged | Molecular Sequence Data | GTP-Binding Protein alpha Subunits - genetics | Male | Dystonic Disorders - enzymology | Sequence Alignment | Pedigree | Adult | Female | Mutation | Basic Medicine | Medical and Health Sciences | Medicin och hälsovetenskap | neurogenetics | olfaction | Medicinsk genetik | Medical Genetics | genetics | GNAL | dystonia | Medicinska och farmaceutiska grundvetenskaper | Purkinje cell | movement disorders
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2. Full Text Mutations in CIZ1 cause adult onset primary cervical dystonia
by Xiao, Jianfeng and Uitti, Ryan J and Zhao, Yu and Vemula, Satya R and Perlmutter, Joel S and Wszolek, Zbigniew K and Maraganore, Demetrius M and Auburger, Georg and Leube, Barbara and Lehnhoff, Katja and LeDoux, Mark S
Annals of Neurology, ISSN 0364-5134, 04/2012, Volume 71, Issue 4, pp. 458 - 469
Objective: Primary dystonia is usually of adult onset, can be familial, and frequently involves the cervical musculature. Our goal was to identify the causal... 
TORSION DYSTONIA | SEQUENCE MOTIFS | GENE | VARIANTS | PHOSPHORYLATION | REPLICATION FACTOR CIZ1 | SUBNUCLEAR DISTRIBUTION | IDENTIFICATION | NEUROSCIENCES | CLINICAL NEUROLOGY | PREDICTION | FAMILY | Amino Acid Sequence | Genetic Predisposition to Disease - genetics | Humans | Molecular Sequence Data | Genotype | Male | Torticollis - genetics | DNA Mutational Analysis | Pedigree | Adult | Female | Mutation | Nuclear Proteins - genetics | Genetic Linkage | Muscular system | FDA approval
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3. Full Text Role of G(olf) in familial and sporadic adult-onset primary dystonia
by Vemula, SR and Puschmann, A and Xiao, JF and Zhao, Y and Rudzinska, M and Frei, KP and Truong, DD and Wszolek, ZK and LeDoux, MS
HUMAN MOLECULAR GENETICS, ISSN 0964-6906, 06/2013, Volume 22, Issue 12, pp. 2510 - 2519
The vast majority of patients with primary dystonia are adults with focal or segmental distribution of involuntary movements. Although 10 of probands have at... 
PRIMARY CERVICAL DYSTONIA | CHROMOSOME 18P | GERMANY | GENE | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | FOCAL DYSTONIA | PRIMARY TORSION DYSTONIA | MUTATIONS | HISTONE H3 PHOSPHORYLATION | EXPRESSION | DELETION
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4. Full Text Recent Advances in the Genetics of Dystonia
by Xiao, Jianfeng and Vemula, Satya R and LeDoux, Mark S
Current Neurology and Neuroscience Reports, ISSN 1528-4042, 8/2014, Volume 14, Issue 8, pp. 1 - 10
Dystonia, a common and genetically heterogeneous neurological disorder, was recently defined as “a movement disorder characterized by sustained or intermittent... 
Neurology | Neurosciences | CIZ1 | PRRT2 | GNAL | Medicine & Public Health | Whole-exome sequencing | Dystonia | TUBB4A | ANO3 | WHISPERING DYSPHONIA | SEQUENCE VARIANTS | CRANIOCERVICAL DYSTONIA | NEUROSCIENCES | CLINICAL NEUROLOGY | THAP1 | FAMILY | PRIMARY CERVICAL DYSTONIA | PRIMARY TORSION DYSTONIA | MUTATIONS | PAROXYSMAL KINESIGENIC DYSKINESIA | MYOCLONUS-DYSTONIA | Dystonic Disorders - genetics | Humans | Proteins | Nervous system diseases | Genetic aspects | Analysis | Neurophysiology
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5. Full Text Motor phenotypes and molecular networks associated with germline deficiency of Ciz1
by Xiao, Jianfeng and Vemula, Satya R and Xue, Yi and Khan, Mohammad M and Kuruvilla, Korah P and Marquez-Lona, Esther M and Cobb, Madison R and LeDoux, Mark S
Experimental Neurology, ISSN 0014-4886, 09/2016, Volume 283, Issue Pt A, pp. 110 - 120
A missense mutation in (c.790A > G, p.S264G) was linked to autosomal dominant cervical dystonia in a large multiplex Caucasian pedigree (OMIM614860, DYT23).... 
Cerebellum | CIZ1 | Dystonia | Knock-out mouse | Gene expression | Cell cycle | PROTEIN | MODEL | NEUROSCIENCES | KNOCK-IN MOUSE | COLORECTAL-CANCER | REPLICATION FACTOR CIZ1 | CELL-CYCLE | MUTATIONS | SUBNUCLEAR DISTRIBUTION | PROMOTES | Reflex - genetics | Muscle Strength - genetics | Age Factors | Genome - genetics | Male | Brain - growth & development | Gait - physiology | Psychomotor Performance - physiology | Brain - metabolism | Exploratory Behavior - physiology | Nuclear Proteins - deficiency | Female | Nuclear Proteins - genetics | Disease Models, Animal | Animals, Newborn | Gene Regulatory Networks - genetics | Movement Disorders - pathology | Mice, Transgenic | Signal Transduction - genetics | Postural Balance - genetics | Animals | Movement Disorders - physiopathology | Sex Factors | Mice | Movement Disorders - genetics | Gait - genetics | Cell death | Analysis | Genes | Genomics | Physiological aspects | DNA synthesis | Genetic aspects | DNA binding proteins | Anopheles | Neurons
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6. Full Text Role of major and brain-specific Sgce isoforms in the pathogenesis of myoclonus-dystonia syndrome
by Xiao, Jianfeng and Vemula, Satya R and Xue, Yi and Khan, Mohammad M and Carlisle, Francesca A and Waite, Adrian J and Blake, Derek J and Dragatsis, Ioannis and Zhao, Yu and LeDoux, Mark S
Neurobiology of Disease, ISSN 0969-9961, 2016, Volume 98, pp. 52 - 65
Abstract Loss-of-function mutations in SGCE , which encodes ε-sarcoglycan (ε-SG), cause myoclonus-dystonia syndrome (OMIM159900, DYT11). A “major” ε-SG protein... 
Neurology | Sgce | Gene trap | Dystonia | Myoclonus | Sarcoglycans | PURKINJE-CELLS | CROSS-MAZE | PHENOTYPES | MODEL | NEUROSCIENCES | EPSILON-SARCOGLYCAN GENE | KNOCK-IN MOUSE | PSYCHIATRIC-DISORDERS | MUTATIONS | SPECTRUM | MOTOR DEFICITS | Cell death | Analysis | Genomics | Mice | Mass spectrometry | Anopheles | Genes | Gene Trap
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7. Full Text Blepharospasm in a multiplex African-American pedigree
by Xiao, Jianfeng and Thompson, Misty M and Vemula, Satya R and LeDoux, Mark S
Journal of the Neurological Sciences, ISSN 0022-510X, 2016, Volume 362, pp. 299 - 303
Abstract Background Isolated blepharospasm (BSP) is a late-onset focal dystonia characterized by involuntary contractions of the orbicularis oculi muscles.... 
Neurology | Dystonia | African-American | Blepharospasm | Sequence variant | THAP1 | PHENOTYPE | RISK | NEUROSCIENCES | CLINICAL NEUROLOGY | FAMILY | PRIMARY DYSTONIA | GENE | CERVICAL DYSTONIA | ONSET | Genetic Testing | Oligonucleotide Array Sequence Analysis | Dystonia - complications | Humans | Middle Aged | African Americans | Family Health | Male | Gene Expression Profiling | Blepharospasm - genetics | Young Adult | Blepharospasm - complications | Apoptosis Regulatory Proteins - genetics | Adult | Female | Blepharospasm - epidemiology | Nuclear Proteins - genetics | Child | Severity of Illness Index | Molecular Chaperones - genetics | GTP-Binding Protein alpha Subunits - genetics | DNA-Binding Proteins - genetics | Mutation - genetics | Adolescent | Age of Onset | Eyelid diseases
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8. Full Text Pathogenic variants in TUBB4A are not found in primary dystonia
by Vemula, Satya R and Xiao, Jianfeng and Bastian, Robert W and Momčilović, Dragana and Blitzer, Andrew and LeDoux, Mark S
Neurology, ISSN 0028-3878, 04/2014, Volume 82, Issue 14, pp. 1227 - 1230
OBJECTIVE:To determine the contribution of TUBB4A, recently associated with DYT4 dystonia in a pedigree with “whispering dysphonia” from Norfolk, United... 
WHISPERING DYSPHONIA | BETA-TUBULIN ISOTYPES | MISSENSE MUTATIONS | CLINICAL NEUROLOGY | RESOLUTION | Leukoencephalopathies - pathology | Dystonic Disorders - genetics | Genetic Predisposition to Disease | Leukoencephalopathies - genetics | Humans | Middle Aged | Male | Tubulin - genetics | United Kingdom | Mutation - genetics | Genetic Testing - methods | Age of Onset | Adult | Dystonic Disorders - pathology | Female | Aged | 162
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9. Full Text Genotype–phenotype correlations in THAP1 dystonia: Molecular foundations and description of new cases
by LeDoux, Mark S and Xiao, Jianfeng and Rudzińska, Monika and Bastian, Robert W and Wszolek, Zbigniew K and Van Gerpen, Jay A and Puschmann, Andreas and Momčilović, Dragana and Vemula, Satya R and Zhao, Yu and Lund University and Klinisk neurogenetik and Neurologi, Lund and MultiPark: Multidisciplinary research focused on Parkinson´s disease and Clinical Neurogenetics and Lunds universitet and Neurology, Lund
Parkinsonism and Related Disorders, ISSN 1353-8020, 2012, Volume 18, Issue 5, pp. 414 - 425
Abstract An extensive variety of THAP1 sequence variants have been associated with focal, segmental and generalized dystonia with age of onset ranging from 3... 
Neurology | Spasmodic dysphonia | Dystonia | Tremor | DYT6 | THAP1 | PROTEIN | VARIANTS | ZINC-FINGER | CARRIERS | GENE DYT1 | CLINICAL NEUROLOGY | PENETRANCE | METABOLISM | MUTATION | PRIMARY TORSION DYSTONIA | ONSET | Chromosomes, Human, Pair 8 - genetics | Humans | Middle Aged | Child, Preschool | Databases, Genetic | Family Health | Infant | Male | Young Adult | Apoptosis Regulatory Proteins - genetics | Adult | Dystonic Disorders - pathology | Female | Dystonic Disorders - physiopathology | Dystonic Disorders - therapy | Nuclear Proteins - genetics | Child | Dystonic Disorders - genetics | Genetic Predisposition to Disease - genetics | Genetic Association Studies | DNA-Binding Proteins - genetics | Mutation - genetics | Animals | Adolescent | Age of Onset | Medical colleges | Genetic aspects | Universities and colleges | Neurologi | Clinical Medicine | Medical and Health Sciences | Medicin och hälsovetenskap | Klinisk medicin
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10. Full Text Dystonia, facial dysmorphism, intellectual disability and breast cancer associated with a chromosome 13q34 duplication and overexpression of TFDP1: Case report
by Moscovich, Mariana and LeDoux, Mark S and Xiao, Jianfeng and Rampon, Garrett L and Vemula, Satya R and Rodriguez, Ramon L and Foote, Kelly D and Okun, Michael S
BMC Medical Genetics, ISSN 1471-2350, 07/2013, Volume 14, Issue 1, pp. 70 - 70
Background: Dystonia is a movement disorder characterized by involuntary sustained muscle contractions causing twisting and repetitive movements or abnormal... 
Breast cancer | TFDP1 | Dystonia | Duplication | Chromosome 13q34 | G1-S Checkpoint pathway | PROTEIN | GLOBUS-PALLIDUS | AMPLIFICATION | GENE | GENETICS & HEREDITY | DEEP-BRAIN-STIMULATION | LATE-ONSET | MUTATIONS | COMPARATIVE GENOMIC HYBRIDIZATION | ATAXIA-TELANGIECTASIA | SINGLE-NUCLEOTIDE POLYMORPHISMS | G-S Checkpoint pathway | Chromosomes, Human, Pair 13 - genetics | Oligonucleotide Array Sequence Analysis | Gene Expression Regulation - genetics | Humans | Muscular Atrophy - genetics | Developmental Disabilities - genetics | Chromosome Duplication - genetics | Intellectual Disability - genetics | Dystonia - genetics | Transcription Factor DP1 - genetics | Psychotic Disorders - genetics | Breast Neoplasms - genetics | Facies | Adult | Female | Craniofacial Abnormalities | Abnormalities, Multiple - genetics | Case studies | Human chromosome abnormalities | Reports | Development and progression | Genetic aspects | Mental retardation | Studies | DNA methylation | Families & family life | Genetics | Ataxia | Genetic testing | Gene expression | Chromosomes | Age | Deoxyribonucleic acid--DNA
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11. Full Text Whole‐exome sequencing for variant discovery in blepharospasm
by Tian, Jun and Vemula, Satya R and Xiao, Jianfeng and Valente, Enza Maria and Defazio, Giovanni and Petrucci, Simona and Gigante, Angelo Fabio and Rudzińska‐Bar, Monika and Wszolek, Zbigniew K and Kennelly, Kathleen D and Uitti, Ryan J and van Gerpen, Jay A and Hedera, Peter and Trimble, Elizabeth J and LeDoux, Mark S
Molecular Genetics & Genomic Medicine, ISSN 2324-9269, 07/2018, Volume 6, Issue 4, pp. 601 - 626
Background Blepharospasm (BSP) is a type of focal dystonia characterized by involuntary orbicularis oculi spasms that are usually bilateral, synchronous, and... 
Purkinje cell | whole‐exome sequencing | blepharospasm | dystonia | cerebellum | whole-exome sequencing | HEMIPLEGIC MIGRAINE | GENOTYPE-PHENOTYPE CORRELATIONS | HS1-BP3 GENE | NUCLEAR-ENVELOPE | EPISODIC ATAXIA TYPE-2 | GENETICS & HEREDITY | MITOCHONDRIAL DYSFUNCTION | CEREBELLAR ATROPHY | ESSENTIAL TREMOR | ONSET | Headache | Migraine | Heredity | Gene sequencing | Spasms | Pleiotropy | Etiology | Ataxia | Genetics | Dystonia | Mutation | Stratification | Polygenic inheritance | Movement disorders
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