A novel presentation of DYT 16: Acute onset in infancy and association with MRI abnormalities

Movement Disorders

Volumn 28, Issue 14, 2013, Pages 1937-1938

  Lemmon, Monica E ^a   Lavenstein, Bennett ^b   Applegate, Carolyn D ^a   Hamosh, Ada ^a   Tekes, Aylin ^a   Singer, Harvey S ^a  

^a JOHNS HOPKINS HOSPITAL   (United States)

^b GEORGE WASHINGTON UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

5 HYDROXYINDOLEACETIC ACID; ACYLCARNITINE; BIOTIN; BIOTINIDASE; CARBIDOPA PLUS LEVODOPA; CARBOXYLIC ACID; CERULOPLASMIN; DOUBLE STRANDED RNA; METHYLMALONIC ACID; MITOCHONDRIAL DNA; NEUROTRANSMITTER; PROTEIN KINASE R; TOXIN; UNCLASSIFIED DRUG; URINE ORGANIC ACID; VERY LONG CHAIN FATTY ACID;

ACIDURIA; AMINO ACID BLOOD LEVEL; ARTICLE; AXIAL HYPOTONIA; BABINSKI REFLEX; BASAL GANGLION; BRADYKINESIA; BRAZIL; CEREBROSPINAL FLUID; DRUG WITHDRAWAL; DYSKINESIA; DYSTONIA; EXOME; EXON; FRAMESHIFT MUTATION; GENE; GENE MUTATION; GENERALIZED DYSTONIA; GENETIC SCREENING; GENOME; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HYDROLYSIS; HYPERREFLEXIA; INFECTION; INJURY; LANGUAGE; LIMB; LIMB DYSTONIA; LOWER EXTREMITY HYPERREFLEXIA; LUMBAR PUNCTURE; MISSENSE MUTATION; MOTOR PERFORMANCE; MUSCLE; MUSCLE HYPOTONIA; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; OROMANDIBULAR DYSKINESIA; OROMANDIBULAR DYSTONIA; OROMANDIBULAR MUSCULATURE; PARKINSONISM; PATHOGENESIS; PHYSIOTHERAPY; PREGNANCY; PRIORITY JOURNAL; PRKRA GENE; PYRAMIDAL SIGN; SPASMODIC DYSPHONIA; SPEECH; SPEECH THERAPY; TERTIARY HEALTH CARE; TREATMENT RESPONSE; TRUNK;

ADOLESCENT; BRAIN; DYSTONIA; DYSTONIC DISORDERS; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MUTATION;

EID: 84889633445     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.25703     Document Type: Article

References (6)

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