A homozygous frameshift mutation of sepiapterin reductase gene causing parkinsonism with onset in childhood

Parkinsonism and Related Disorders

Volumn 18, Issue 2, 2012, Pages 191-193

  Lohmann, Ebba ^a   Köroĝlu, Çiĝdem ^b   Hanagasi, Hasmet A ^a   Dursun, Burcu ^c   Taşan, Erşan ^b   Tolun, Aslihan ^b  

^a ISTANBUL UNIVERSITY   (Turkey)

^b BOGAZICI UNIVERSITY   (Turkey)

^c ISTANBUL UNIVERSITY   (Turkey)

Author keywords

Hypotonia; Parkinsonism; Sepiapterin reductase

Indexed keywords

LEVODOPA; METHYLPHENIDATE; PRAMIPEXOLE;

ADOLESCENT; ARTICLE; BALANCE IMPAIRMENT; BRADYKINESIA; CASE REPORT; CHILD; DNA SEQUENCE; DYSARTHRIA; DYSKINESIA; EXOME; FALLING; FEMALE; FRAMESHIFT MUTATION; GENE; GENETIC ANALYSIS; HOMOZYGOSITY; HUMAN; HYPERSOMNIA; LEARNING DISORDER; MALE; MUSCLE HYPOTONIA; MUSCLE RIGIDITY; MUSCLE STIFFNESS; ONSET AGE; PARKINSONISM; PRESCHOOL CHILD; PRIORITY JOURNAL; PTOSIS; SCHOOL CHILD; SEPIAPTERIN REDUCTASE GENE; SIBLING; SINGLE NUCLEOTIDE POLYMORPHISM; TREMOR; TURKEY (REPUBLIC); WEAKNESS;

ADOLESCENT; ADULT; AGE FACTORS; ALCOHOL OXIDOREDUCTASES; CHILD; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; HOMOZYGOTE; HUMANS; MALE; MIDDLE AGED; PARKINSONIAN DISORDERS;

EID: 84856209081     PISSN: 13538020     EISSN: 18735126     Source Type: Journal    
DOI: 10.1016/j.parkreldis.2011.10.001     Document Type: Article

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