Phenotypic features of myoclonus-dystonia in three kindreds.
about
Clinical and genetic features of myoclonus-dystonia in 3 cases: a video presentationMusician's dystonia and comorbid anxiety: two sides of one coin?SGCE mutations cause psychiatric disorders: clinical and genetic characterizationAlcohol in essential tremor and other movement disorders.Abnormal nuclear envelope in the cerebellar Purkinje cells and impaired motor learning in DYT11 myoclonus-dystonia mouse modelsAlteration of striatal dopaminergic neurotransmission in a mouse model of DYT11 myoclonus-dystonia.Genomic imprinting in the development and evolution of psychotic spectrum conditions.SGCE and myoclonus dystonia: motor characteristics, diagnostic criteria and clinical predictors of genotype.Co-occurrence of affective and schizophrenia spectrum disorders with PINK1 mutationsMovement disorders and alcohol misuse.A point mutation in ε-sarcoglycan induces inherited myoclonus dystonia syndrome in a Chinese familyMyoclonus-dystonia: an update.The neurobiology of the dystrophin-associated glycoprotein complex.Substance abuse and movement disorders.Nonmotor manifestations of dystonia: a systematic review.Psychiatric disorders, myoclonus dystonia, and the epsilon-sarcoglycan gene: a systematic review.Cognitive and psychiatric phenotypes of movement disorders in children: a systematic review.The genetics of the dystonias--a review based on the new classification of the dystonias.Sporadic and familial myoclonic dystonia: Report of three cases and review of literatureElectrophysiological features of myoclonus-dystonia.Speech-activated Myoclonus Mimicking Stuttering in a Patient with Myoclonus-Dystonia Syndrome.Primary Myoclonus-Dystonia: A Diagnosis Often Missed in Children.Unusual familial presentation of epsilon-sarcoglycan gene mutation with falls and writer's cramp.Deep brain stimulation in myoclonus-dystonia syndrome.Progression of neuropsychiatric and cognitive features due to exons 2 to 5 deletion in the epsilon-sarcoglycan gene: a case report.Hereditary Myoclonus Dystonia: A Novel SGCE Variant and Phenotype Including Intellectual Disability.A gain-of-glycosylation mutation associated with myoclonus-dystonia syndrome affects trafficking and processing of mouse ε-sarcoglycan in the late secretory pathway.Hereditary spastic paraparesis and psychosis.
P2860
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P2860
Phenotypic features of myoclonus-dystonia in three kindreds.
description
2002 nî lūn-bûn
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2002年の論文
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2002年学术文章
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2002年学术文章
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2002年学术文章
@zh-cn
2002年学术文章
@zh-hans
2002年学术文章
@zh-my
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2002年學術文章
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name
Phenotypic features of myoclonus-dystonia in three kindreds.
@en
Phenotypic features of myoclonus-dystonia in three kindreds.
@nl
type
label
Phenotypic features of myoclonus-dystonia in three kindreds.
@en
Phenotypic features of myoclonus-dystonia in three kindreds.
@nl
prefLabel
Phenotypic features of myoclonus-dystonia in three kindreds.
@en
Phenotypic features of myoclonus-dystonia in three kindreds.
@nl
P2093
P356
P1433
P1476
Phenotypic features of myoclonus-dystonia in three kindreds.
@en
P2093
Bressman SB
De Carvalho Aguiar P
P304
P356
10.1212/WNL.59.8.1187
P407
P577
2002-10-01T00:00:00Z