The p.L302P mutation in the lysosomal enzyme gene SMPD1 is a risk factor for Parkinson disease

Neurology

Volumn 80, Issue 17, 2013, Pages 1606-1610

  Gan Or, Ziv ^a,c   Ozelius, Laurie J ^d   Bar Shira, Anat ^a   Saunders Pullman, Rachel ^e,f   Mirelman, Anat ^b   Kornreich, Ruth ^d   Gana Weisz, Mali ^a   Raymond, Deborah ^e   Rozenkrantz, Liron ^a   Deik, Andres ^e   Gurevich, Tanya ^b,c   Gross, Susan J ^f   Schreiber Agus, Nicole ^f   Giladi, Nir ^b,c   Bressman, Susan B ^e,f   Orr Urtreger, Avi ^a,c  

^a Department of Neurology   (Israel)

^b TEL AVIV SOURASKY MEDICAL CENTER   (Israel)

^c TEL AVIV UNIVERSITY   (Israel)

^d MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^e BETH ISRAEL MEDICAL CENTER   (United States)

^f ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

SPHINGOMYELIN PHOSPHODIESTERASE; SPHINGOMYELIN PHOSPHODIESTERASE 1, HUMAN;

AGED; ARTICLE; CONTROLLED STUDY; FEMALE; GENE; GENE FREQUENCY; GENE MUTATION; GENE REPLICATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC RISK; HETEROZYGOTE; HUMAN; ISRAEL; LYSOSOME; MAJOR CLINICAL STUDY; MALE; PARKINSON DISEASE; PRIORITY JOURNAL; RISK ASSESSMENT; SMPD1 GENE; UNITED STATES; FOUNDER EFFECT; GENETIC PREDISPOSITION; GENETICS; MUTATION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RISK FACTOR;

AGED; FEMALE; FOUNDER EFFECT; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MUTATION; PARKINSON DISEASE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RISK FACTORS; SPHINGOMYELIN PHOSPHODIESTERASE;

MLCS; MLOWN;

EID: 84878911804     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e31828f180e     Document Type: Article

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