A new Turkish family with homozygous FBXO7 truncating mutation and juvenile atypical parkinsonism

Parkinsonism and Related Disorders

Volumn 20, Issue 11, 2014, Pages 1248-1252

  Yalcin Cakmakli, Gul ^a   Olgiati, Simone ^b   Quadri, Marialuisa ^b   Breedveld, Guido J ^b   Cortelli, Pietro ^c   Bonifati, Vincenzo ^b   Elibol, Bulent ^a  

^a HACETTEPE UNIVERSITY   (Turkey)

^b ERASMUS MEDICAL CENTER   (Netherlands)

^c UNIVERSITY OF BOLOGNA   (Italy)

Author keywords

FBXO7; Gene; Juvenile; Mutation; Parkinsonism; Turkey

Indexed keywords

AMANTADINE; BIPERIDEN; CLOZAPINE; LEVODOPA; ROPINIROLE; SERTRALINE; THREONINE; F BOX PROTEIN; FBXO7 PROTEIN, HUMAN;

ADOLESCENT; ADULT; ARTICLE; BEHAVIOR DISORDER; BRADYKINESIA; CASE REPORT; CONSANGUINITY; DOSE RESPONSE; DRUG EFFECT; DRUG MEGADOSE; DRUG SAFETY; DYSARTHRIA; DYSKINESIA; F BOX ONLY PROTEIN 7 GENE; FALLING; FAMILY ASSESSMENT; FEMALE; GAIT DISORDER; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; HAPLOTYPE; HOMOZYGOTE; HUMAN; JUVENILE ATYPICAL PARKINSONISM; LOW DRUG DOSE; MALE; MARKER GENE; MENTAL DEFICIENCY; NEUROLOGIC EXAMINATION; NUCLEOTIDE SEQUENCE; PARKINSONISM; SIBLING; SINGLE NUCLEOTIDE POLYMORPHISM; SLOWNESS; TREATMENT DURATION; TREMOR; TURK (PEOPLE); YOUNG ADULT; GENETIC PREDISPOSITION; GENETIC SCREENING; GENETICS; MUTATION; PARKINSONIAN DISORDERS; PEDIGREE; PROCEDURES; RECESSIVE GENE; TURKEY;

ADOLESCENT; F-BOX PROTEINS; FEMALE; GENES, RECESSIVE; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HOMOZYGOTE; HUMANS; MALE; MUTATION; PARKINSONIAN DISORDERS; PEDIGREE; TURKEY; YOUNG ADULT;

EID: 84908621344     PISSN: 13538020     EISSN: 18735126     Source Type: Journal    
DOI: 10.1016/j.parkreldis.2014.06.024     Document Type: Article

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