The contribution of Niemann-Pick SMPD1 mutations to Parkinson disease in Ashkenazi Jews

Parkinsonism and Related Disorders

Volumn 21, Issue 9, 2015, Pages 1067-1071

  Dagan, E ^a   Schlesinger, I ^b,c   Ayoub, M ^d   Mory, A ^d   Nassar, M ^c   Kurolap, A ^d   Peretz Aharon, J ^b,c   Gershoni Baruch, R ^b,d  

^a UNIVERSITY OF HAIFA   (Israel)

^b Department of Neurology and the Cognitive Neurology Institute ^*  (Israel)

^c TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

^d Institute of Human Genetics   (Israel)

Author keywords

Gaucher disease; GBA; LRRK2; Niemann Pick disease; Parkinson's disease; SMPD1

Indexed keywords

GLUCOSYLCERAMIDASE; LEUCINE RICH REPEAT KINASE 2; SPHINGOMYELIN PHOSPHODIESTERASE; SPHINGOMYELIN PHOSPHODIESTERASE 1; UNCLASSIFIED DRUG; LRRK2 PROTEIN, HUMAN; PROTEIN SERINE THREONINE KINASE; SPHINGOMYELIN PHOSPHODIESTERASE 1, HUMAN;

ADULT; ARTICLE; ASHKENAZI JEW; CASE CONTROL STUDY; CLINICAL FEATURE; CONTROLLED STUDY; FEMALE; FOUNDER MUTATION; GENE MUTATION; HUMAN; LYSOSOME STORAGE DISEASE; MAJOR CLINICAL STUDY; MALE; NEUROLOGIC EXAMINATION; PARKINSON DISEASE; PHENOTYPE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; RISK FACTOR; UNIFIED PARKINSON DISEASE RATING SCALE; AGED; DNA MUTATIONAL ANALYSIS; ETHNOLOGY; GENETIC PREDISPOSITION; GENETICS; JEW; MIDDLE AGED; MUTATION; NEUROPSYCHOLOGICAL TEST; SEVERITY OF ILLNESS INDEX;

AGED; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GLUCOSYLCERAMIDASE; HUMANS; JEWS; MALE; MIDDLE AGED; MUTATION; NEUROPSYCHOLOGICAL TESTS; PARKINSON DISEASE; PROTEIN-SERINE-THREONINE KINASES; SEVERITY OF ILLNESS INDEX; SPHINGOMYELIN PHOSPHODIESTERASE;

EID: 84940614604     PISSN: 13538020     EISSN: 18735126     Source Type: Journal    
DOI: 10.1016/j.parkreldis.2015.06.016     Document Type: Article

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