Related references
Note: Only part of the references are listed.Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study
Susan B. Bressman et al.
LANCET NEUROLOGY (2009)
Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study
Ana Djarmati et al.
LANCET NEUROLOGY (2009)
Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia
Tania Fuchs et al.
NATURE GENETICS (2009)
Myoclonus-dystonia due to maternal uniparental disomy
Emilie Guettard et al.
ARCHIVES OF NEUROLOGY (2008)
TorsinA binds the KASH domain of nesprins and participates in linkage between nuclear envelope and cytoskeleton
Flavia C. Nery et al.
JOURNAL OF CELL SCIENCE (2008)
Frequency of GCH1 deletions in dopa-responsive dystonia
B. Zirn et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2008)
Novel TOR1A mutation p.Arg288Gln in early-onset dystonia (DYT1)
B. Zim et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2008)
DYT16, a novel young-onset dystonia-parkinson ism disorder:: identification of a segregating mutation in the stress-response protein PRKRA
Sarah Camargos et al.
LANCET NEUROLOGY (2008)
Myoclonus-dystonia syndrome: Clinical presentation, disease course, and genetic features in 11 families
Nardo Nardocci et al.
MOVEMENT DISORDERS (2008)
The pathophysiological basis of dystonias
Xandra O. Breakefield et al.
NATURE REVIEWS NEUROSCIENCE (2008)
Frontotemporal and striatal SPECT abnormalities in myoclonus-dystonia: Phenotypic and pathogenetic considerations
Spiridon Papapetropoulos et al.
NEURODEGENERATIVE DISEASES (2008)
A novel locus for autosomal recessive primary torsion dystonia (DYT17) maps to 20p11.22-q13.12
E. Chouery et al.
NEUROGENETICS (2008)
Myoclonus-dystonia -: Clinical and electrophysiologic pattern related to SGCE mutations
E. Roze et al.
NEUROLOGY (2008)
Susceptibility to DYT1 dystonia in European patients is modified by D216H polymorphism
C. Kamm et al.
NEUROLOGY (2008)
Neuropathology of primary adult-onset dystonia
J. L. Holton et al.
NEUROLOGY (2008)
Differential involvement of striosome and matrix dopamine systems in a transgenic model of dopa-responsive dystonia
Kenta Sato et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2008)
Study of a Swiss dopa-responsive dystonia family with a deletion in GCH1 -: Redefining DYT14 as DYT5
C. Wider et al.
NEUROLOGY (2008)
The dystonia-associated protein torsinA modulates synaptic vesicle recycling
Alessandra Granata et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2008)
Increased cerebellar activation during sequence learning in DYT1 carriers: an equiperformance study
Maren Carbon et al.
BRAIN (2008)
Motor deficits and hyperactivity in cerebral cortex-specific Dyt1 conditional knockout mice
Fumiaki Yokoi et al.
JOURNAL OF BIOCHEMISTRY (2008)
Structural and functional analysis of the human TAF1/DYT3 multiple transcript system
Thilo Herzfeld et al.
MAMMALIAN GENOME (2007)
Mutations in the cyclic adenosine monophosphate response element of the tyrosine hydroxylase gene
Marcel M. Verbeek et al.
ANNALS OF NEUROLOGY (2007)
First case of X-linked dystonia-parkinsonism (Lubag) to demonstrate a response to bilateral pallidal stimulation
Virgilio Gerald H. Evidente et al.
MOVEMENT DISORDERS (2007)
Dopamine release is impaired in a mouse model of DYT1 dystonia
Aygul Balcioglu et al.
JOURNAL OF NEUROCHEMISTRY (2007)
Overexpression of human wildtype torsinA and human ΔGAG torsinA in a transgenic mouse model causes phenotypic abnormalities
K. Grundmann et al.
NEUROBIOLOGY OF DISEASE (2007)
Intragenic cis and trans modification of genetic susceptibility in DYT1 torsion dystonia
Neil J. Risch et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
Genotype-phenotype correlation of paroxysmal nonkinesigenic dyskinesia
M. K. Bruno et al.
NEUROLOGY (2007)
Nigrostriatal dysfunction in X-linked dystonia-parkinsonism (DYT3)
Bjoern Tackenberg et al.
MOVEMENT DISORDERS (2007)
Mutant torsinA interferes with protein processing through the secretory pathway in DYT1 dystonia cells
Jeffrey W. Hewett et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)
The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATPIA3 gene
Allison Brashear et al.
BRAIN (2007)
Reduced neuron-specific expression of the TAF1 gene is associated with X-linked dystonia-parkinsonism
Satoshi Makino et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
SGCE missense mutations that cause myoclonus-dystonia syndrome impair ε-sarcoglycan trafficking to the plasma membrane:: modulation by ubiquitination and torsinA
Christopher T. Esapa et al.
HUMAN MOLECULAR GENETICS (2007)
Deficiency in Na,K-ATPase α isoform genes alters spatial learning, motor activity, and anxiety in mice
Amy E. Moseley et al.
JOURNAL OF NEUROSCIENCE (2007)
Utility of MLPA in deletion analysis of GCH1 in dopa-responsive dystonia
Daniela Steinberger et al.
NEUROGENETICS (2007)
Motor deficits and hyperactivity in Dyt1 knockdown mice
Mai T. Dang et al.
NEUROSCIENCE RESEARCH (2006)
Distal myoclonus and late onset in a large Dutch family with myoclonus-dystonia
E. M. J. Foncke et al.
NEUROLOGY (2006)
Altered responses to dopaminergic D2 receptor activation and N-type calcium currents in striatal cholinergic interneurons in a mouse model of DYT1 dystonia
A. Pisani et al.
NEUROBIOLOGY OF DISEASE (2006)
Current concepts - Dystonia
Daniel Tarsy et al.
NEW ENGLAND JOURNAL OF MEDICINE (2006)
Myoclonus, motor deficits, alterations in emotional responses and monoamine metabolism in ε-sarcoglycan deficient mice
Fumiaki Yokoi et al.
JOURNAL OF BIOCHEMISTRY (2006)
Genetic heterogeneity in paroxysmal nonkinesigenic dyskinesia
SD Spacey et al.
NEUROLOGY (2006)
A systematic review on the diagnosis and treatment of primary (idiopathic) dystonia and dystonia plus syndromes:: report of an EFNS/MDS-ES Task Force
A. Albanese et al.
EUROPEAN JOURNAL OF NEUROLOGY (2006)
Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes
ST du Montcel et al.
JOURNAL OF MEDICAL GENETICS (2006)
Effects of genetic variations in the dystonia protein torsinA: identification of polymorphism at residue 216 as protein modifier
N Kock et al.
HUMAN MOLECULAR GENETICS (2006)
Dystonia-causing mutant torsinA inhibits cell adhesion and neurite extension through interference with cytoskeletal dynamics
JW Hewett et al.
NEUROBIOLOGY OF DISEASE (2006)
Generation and characterization of Dyt1 ΔGAG knock-in mouse as a model for early-onset dystonia
MT Dang et al.
EXPERIMENTAL NEUROLOGY (2005)
Myoclonus-dystonia due to genomic deletions in the epsilon-sarcoglycan gene
F Asmus et al.
ANNALS OF NEUROLOGY (2005)
Diagnostic evaluation of patients with a brain mass as the presenting manifestation of cancer
AN Mavrakis et al.
NEUROLOGY (2005)
Functional anatomy of the basal ganglia in X-linked recessive dystonia-parkinsonism
S Goto et al.
ANNALS OF NEUROLOGY (2005)
Impaired motor learning in mice expressing TorsinA with the DYT1 dystonia mutation
N Sharma et al.
JOURNAL OF NEUROSCIENCE (2005)
The metabolic pathology of dopa-responsive dystonia
K Asanuma et al.
ANNALS OF NEUROLOGY (2005)
The AAA plus protein torsinA interacts with a conserved domain present in LAP1 and a novel ER protein
RE Goodchild et al.
JOURNAL OF CELL BIOLOGY (2005)
ε-sarcoglycan immunoreactivity and mRNA expression in mouse brain
P Chan et al.
JOURNAL OF COMPARATIVE NEUROLOGY (2005)
Decreased striatal D2 receptor binding in non-manifesting carriers of the DYT1 dystonia mutation
K Asanuma et al.
NEUROLOGY (2005)
Transgenic mouse model of early-onset DYT1 dystonia
P Shashidharan et al.
HUMAN MOLECULAR GENETICS (2005)
The dystrophin glycoprotein complex - Signaling strength and integrity for the sarcolemma
KA Lapidos et al.
CIRCULATION RESEARCH (2004)
Mutations in DYT1 -: Extension of the phenotypic and mutational spectrum
K Kabakci et al.
NEUROLOGY (2004)
A Drosophila model of early onset torsion dystonia suggests impairment in TGF-β signaling
YH Koh et al.
HUMAN MOLECULAR GENETICS (2004)
Heterozygous mutation in 5′-untranslated region of sepiapterin reductase gene (SPR) in a patient with dopa-responsive dystonia
D Steinberger et al.
NEUROGENETICS (2004)
Pallidal deep brain stimulation in cervical dystonia: Clinical outcome in four cases
HA Eltahawy et al.
CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES (2004)
The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway
HY Lee et al.
HUMAN MOLECULAR GENETICS (2004)
Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis
S Rainier et al.
ARCHIVES OF NEUROLOGY (2004)
Phenotypic and molecular analyses of X-linked dystonia-parkinsonism (Lubag) in women
VGH Evidente et al.
ARCHIVES OF NEUROLOGY (2004)
Refined linkage to the RDP/DYT12 locus on 19q13.2 and evaluation of GRIK5 as a candidate gene
C Kamm et al.
MOVEMENT DISORDERS (2004)
Autosomal recessive, DYT2-like primary torsion dystonia: A new family
J Zlotogora
NEUROLOGY (2004)
Deep brain stimulation in Myoclonus-dystonia syndrome
L Cif et al.
MOVEMENT DISORDERS (2004)
Deep brain stimulation for dystonia
JK Krauss et al.
JOURNAL OF CLINICAL NEUROPHYSIOLOGY (2004)
TorsinA in the nuclear envelope
TV Naismith et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2004)
The early onset dystonia protein torsinA interacts with kinesin light chain 1
C Kamm et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2004)
Brainstem pathology in DYT1 primary torsion dystonia
KS McNaught et al.
ANNALS OF NEUROLOGY (2004)
Enaptin, a giant actin-binding protein, is an element of the nuclear membrane and the actin cytoskeleton
VC Padmakumar et al.
EXPERIMENTAL CELL RESEARCH (2004)
Autosomal recessive, DYT2-like primary torsion dystonia - A new family
NL Khan et al.
NEUROLOGY (2003)
Specific sequence changes in multiple transcript system DYT3 are associated with X-linked dystonia parkinsonism
D Nolte et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2003)
Frequency and phenotypic variability of the GAG deletion of the DYT1 gene in an unselected group of patients with dystonia
K Grundmann et al.
ARCHIVES OF NEUROLOGY (2003)
Suppression of polyglutamine-induced protein aggregation in Caenorhabditis elegans by torsin proteins
GA Caldwell et al.
HUMAN MOLECULAR GENETICS (2003)
TorsinA protein and neuropathology in early onset generalized dystonia with GAG deletion
K Rostasy et al.
NEUROBIOLOGY OF DISEASE (2003)
The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted
M Grabowski et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2003)
Diagnostic criteria for dystonia in DYT1 families
SB Bressman et al.
NEUROLOGY (2002)
Exon deletions in the GCHI gene in two of four Turkish families with dopa-responsive dystonia
C Klein et al.
NEUROLOGY (2002)
ε-sarcoglycan mutations found in combination with other dystonia gene mutations
C Klein et al.
ANNALS OF NEUROLOGY (2002)
A novel locus for inherited myoclonus-dystonia on 18p11
DA Grimes et al.
NEUROLOGY (2002)
The natural history of sex-linked recessive dystonia parkinsonism of Panay, Philippines (XDP)
LV Lee et al.
PARKINSONISM & RELATED DISORDERS (2002)
Classification and genetics of dystonia
PMD Aguiar et al.
LANCET NEUROLOGY (2002)
Secondary paroxysmal dyskinesias
J Blakeley et al.
MOVEMENT DISORDERS (2002)
Neuropathology of a case of dopa-responsive dystonia associated with a new genetic locus, DYT14
H Grötzsch et al.
NEUROLOGY (2002)
The genetics of primary dystonias and related disorders
AH Németh
BRAIN (2002)
Lipoatrophic diabetes-associated utero-ovarian dysfunction: Influence of cellular lipid deposition on norepinephrine indices
DR Garris et al.
HORMONE RESEARCH (2002)
X-linked dystonia (Lubag) presenting predominantly with parkinsonism: A more benign phenotype?
VGH Evidente et al.
MOVEMENT DISORDERS (2002)
Mutations of GCH1 in dopa-responsive dystonia
U Muller et al.
JOURNAL OF NEURAL TRANSMISSION (2002)
Catecholamines and serotonin are differently regulated by tetrahydrobiopterin - A study from 6-pyruvoyltetrahydropterin synthase knockout mice
C Sumi-Ichinose et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2001)
Mutations in the gene encoding ε-sarcoglycan cause myoclonus-dystonia syndrome
A Zimprich et al.
NATURE GENETICS (2001)
Novel mutation in the TOR1A (DYT1) gene in atypical, early onset dystonia and polymorphisms in dystonia and early onset parkinsonism
JC Leung et al.
NEUROGENETICS (2001)
A sarcoglycan-dystroglycan complex anchors Dp116 and utrophin in the peripheral nervous system
M Imamura et al.
HUMAN MOLECULAR GENETICS (2000)
Dopa-responsive dystonia:: Mutation analysis of GCH1 and analysis of therapeutic doses of L-dopa
D Steinberger et al.
NEUROLOGY (2000)
Rapid-onset dystonia-parkinsonism - A clinical and genetic analysis of a new kindred
SJ Pittock et al.
NEUROLOGY (2000)
A second paroxysmal kinesigenic choreoathetosis locus (EKD2) mapping on 16q13-q22.1 indicates a family of genes which give rise to paroxysmal disorders on human chromosome 16
EM Valente et al.
BRAIN (2000)
Familial paroxysmal exercise-induced dyskinesia and benign epilepsy: a clinical and neurophysiological study of an uncommon disorder
L Margari et al.
NEUROLOGICAL SCIENCES (2000)
Association between early-onset Parkinson's disease and mutations in the parkin gene
CB Lücking et al.
NEW ENGLAND JOURNAL OF MEDICINE (2000)
Polyglutamine aggregates alter protein folding homeostasis in Caenorhabditis elegans
SH Satyal et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2000)
Mutant torsinA, responsible for early-onset torsion dystonia, forms membrane inclusions in cultured neural cells
J Hewett et al.
HUMAN MOLECULAR GENETICS (2000)
A new family with paroxysmal exercise induced dystonia and migraine:: a clinical and genetic study
A Münchau et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2000)
Four novel mutations in the Tyrosine Hydroxylase gene in patients with infantile parkinsonism
RJM Swaans et al.
ANNALS OF HUMAN GENETICS (2000)
Evidence for de novo cholesterol synthesis by term human fetal amnion and chorion: A comparative study using the reverse-isotope dilution technique
A Loganath et al.
HORMONE RESEARCH (2000)
Share Paper
