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Phenotypic and molecular analyses of X-linked dystonia-parkinsonism (Lubag) in women
VGH Evidente et al.
ARCHIVES OF NEUROLOGY (2004)
Identification and characterization of ε-sarcoglycans in the central nervous system
A Nishiyama et al.
MOLECULAR BRAIN RESEARCH (2004)
Effect of torsinA on membrane proteins reveals a loss of function and a dominant-negative phenotype of the dystonia-associated ΔE-torsinA mutant
GE Torres et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2004)
TorsinA in the nuclear envelope
TV Naismith et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2004)
Disturbed surround inhibition in focal hand dystonia
YH Sohn et al.
ANNALS OF NEUROLOGY (2004)
The early onset dystonia protein torsinA interacts with kinesin light chain 1
C Kamm et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2004)
Autosomal recessive, DYT2-like primary torsion dystonia - A new family
NL Khan et al.
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Cloning, developmental regulation and neural localization of rat ε-sarcoglycan
JF Xiao et al.
MOLECULAR BRAIN RESEARCH (2003)
Candidate gene studies in focal dystonia
D Sibbing et al.
NEUROLOGY (2003)
Abnormalities of spatial discrimination in focal and generalized dystonia
FM Molloy et al.
BRAIN (2003)
The effects of frequency in pallidal deep brain stimulation for primary dystonia
A Kupsch et al.
JOURNAL OF 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)
Different patterns of electrophysiological deficits in manifesting and non-manifesting carriers of the DYT1 gene mutation
MJ Edwards et al.
BRAIN (2003)
Myoclonus in a patient with a deletion of the ε-sarcoglyean locus on chromosome 7q21
RJ DeBerardinis et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2003)
Mutations in the ε-sarcoglycan gene found to be uncommon in seven myoclonus-dystonia families
F Han et al.
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Severe myoclonus-dystonia syndrome associated with a novel epsilon-sarcoglycan gene truncating mutation
L Maréchal et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS (2003)
Role of the dopamine D5 receptor (DRD5) as a susceptibility gene for cervical dystonia
F Brancati et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2003)
THAP1 is a nuclear proapoptotic factor that links prostate-apoptosis-response-4 (Par-4) to PML nuclear bodies
M Roussigne et al.
ONCOGENE (2003)
The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted
M Grabowski et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2003)
Abnormal associative plasticity of the human motor cortex in writer's cramp
A Quartarone et al.
BRAIN (2003)
Evidence that paternal expression of the ε-Sarcoglycan gene accounts for reduced penetrance in myoclonus-dystonia
B Müller et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2002)
Phenomenology of Lubag or X-linked dystonia-parkinsonism
VGH Evidente et al.
MOVEMENT DISORDERS (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)
Myoclonus-dystonia syndrome:: ε-sarcoglycan mutations and phenotype
F Asmus et al.
ANNALS OF NEUROLOGY (2002)
The prevalence of primary dystonia in the general community
J Müller et al.
NEUROLOGY (2002)
Classification and genetics of dystonia
PMD Aguiar et al.
LANCET NEUROLOGY (2002)
Genetic and clinical heterogeneity in paroxysmal kinesigenic dyskinesia: Evidence for a third EKD gene
SD Spacey 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)
Myoclonus dystonia - Possible association with obsessive-compulsive disorder and alcohol dependence
R Saunders-Pullman et al.
NEUROLOGY (2002)
A polymorphism in the dopamine receptor DRD5 is associated with blepharospasm
A Misbahuddin et al.
NEUROLOGY (2002)
Neuronal plasticity of interrelated cerebellar and cortical networks
M Molinari et al.
NEUROSCIENCE (2002)
Frequency of DYT1 mutation in early-onset primary dystonia in Italian patients
G Zorzi et al.
MOVEMENT DISORDERS (2002)
Intrafamilial phenotypic variability of the DYT1 dystonia: From asymptomatic TOR1A gene carrier status to dystonic storm
P Opal et al.
MOVEMENT DISORDERS (2002)
Intrathecal baclofen for generalized dystonia
AL Albright et al.
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2001)
Atypical presentation of dopa-responsive dystonia: Generalized hypotonia and proximal weakness
CK Kong et al.
NEUROLOGY (2001)
Mutations in the gene encoding ε-sarcoglycan cause myoclonus-dystonia syndrome
A Zimprich et al.
NATURE GENETICS (2001)
Cervical dystonia is associated with a polymorphism in the dopamine (D5) receptor gene
MR Placzek et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2001)
A major locus for several phenotypes of myoclonus-dystonia on chromosome 7q
M Vidailhet et al.
NEUROLOGY (2001)
Identification of a novel primary torsion dystonia loons (DYT13) on chromosome 1p36 in an Italian family with cranial-cervical or upper limb onset
EM Valente et al.
NEUROLOGICAL SCIENCES (2001)
Dope-responsive dystonia simulating spastic paraplegia due to tyrosine hydroxylase (TH) gene mutations
Y Furukawa et al.
NEUROLOGY (2001)
A sarcoglycan-dystroglycan complex anchors Dp116 and utrophin in the peripheral nervous system
M Imamura et al.
HUMAN MOLECULAR GENETICS (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.
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The DYT1 phenotype and guidelines for diagnostic testing
SB Bressman et al.
NEUROLOGY (2000)
Zac1 (Lot1), a potential tumor suppressor gene, and the gene for ε-sarcoglycan are maternally imprinted genes:: Identification by a subtractive screen of novel uniparental fibroblast lines
G Piras et al.
MOLECULAR AND CELLULAR BIOLOGY (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)
Frequency of the DYT1 mutation in primary torsion dystonia without family history
D Brassat et al.
ARCHIVES OF NEUROLOGY (2000)
A locus for paroxysmal kinesigenic dyskinesia maps to human chromosome 16
LB Bennett et al.
NEUROLOGY (2000)
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