G2019S LRRK2 mutation in familial and sporadic Parkinson's disease in Russia. Pchelina, S., Yakimovskii, A., Ivanova, O., Emelianov, A., Zakharchuk, A., & Schwarzman, A. Movement Disorders, 21(12):2234-2236, 2006. cited By 17![G2019S LRRK2 mutation in familial and sporadic Parkinson's disease in Russia [link]](https://bibbase.org/img/filetypes/link.svg "link")
Paper doi abstract bibtex Among mutations associated with autosomal dominant an sporadic Parkinson's disease (PD) the G2019S substitution in the leucine-rich repeat kinase 2 (LRRK2) gene is the most frequently identified. To estimate its frequency in Russia, we analyzed 208 patients with PD from the Northwestern region of Russia. Of these, 51 patients were probands from families with PD compatible with autosomal dominant inheritance. The control group represented 161 subjects without neurological disorders settled in the same region. The frequency of the G2019S mutation was greater in familial PD (2 [3.9%] of 51) than in sporadic PD) (1 [0.6%] of 157). In addition, this mutation was found in the proband's father, who also had PD, in 1 PD family, and in 1 carrier without signs of PD at age 40 in another PD family. All carriers were heterozygous for the G2019S mutation and reported the Ashkenazi Jewish origin. The mutation was not found in the control group. © 2006 Movement Disorder Society.
@ARTICLE{Pchelina20062234,
author={Pchelina, S.N. and Yakimovskii, A.F. and Ivanova, O.N. and Emelianov, A.K. and Zakharchuk, A.H. and Schwarzman, A.L.},
title={G2019S LRRK2 mutation in familial and sporadic Parkinson's disease in Russia},
journal={Movement Disorders},
year={2006},
volume={21},
number={12},
pages={2234-2236},
doi={10.1002/mds.21134},
note={cited By 17},
url={https://www.scopus.com/inward/record.uri?eid=2-s2.0-33846408281&doi=10.1002%2fmds.21134&partnerID=40&md5=c3f05dde5052fb088bb5c49cf1e176cb},
affiliation={Petersburg Nuclear Physics Institute, RAS, St. Petersburg, Russian Federation; St. Petersburg State Pavlov Medical University, L. Tolstogo str. 6/8, St. Petersburg, Russian Federation; St. Petersburg Cuty Geriatric Center, St. Peterburg, Russian Federation},
abstract={Among mutations associated with autosomal dominant an sporadic Parkinson's disease (PD) the G2019S substitution in the leucine-rich repeat kinase 2 (LRRK2) gene is the most frequently identified. To estimate its frequency in Russia, we analyzed 208 patients with PD from the Northwestern region of Russia. Of these, 51 patients were probands from families with PD compatible with autosomal dominant inheritance. The control group represented 161 subjects without neurological disorders settled in the same region. The frequency of the G2019S mutation was greater in familial PD (2 [3.9%] of 51) than in sporadic PD) (1 [0.6%] of 157). In addition, this mutation was found in the proband's father, who also had PD, in 1 PD family, and in 1 carrier without signs of PD at age 40 in another PD family. All carriers were heterozygous for the G2019S mutation and reported the Ashkenazi Jewish origin. The mutation was not found in the control group. © 2006 Movement Disorder Society.},
author_keywords={LRRK2; Mutation; Parkinson's disease; Russia},
correspondence_address1={Pchelina, S.N.; Department of Molecular and Gene Technologies, St. Petersburg State Pavlov Medical University, L. Tolstogo str. 6/8, St. Petersburg, Russian Federation; email: sopchelina@hotmail.com},
issn={08853185},
coden={MOVDE},
pubmed_id={17044089},
language={English},
abbrev_source_title={Mov. Disord.},
document_type={Article},
source={Scopus},
}
Downloads: 0
{"_id":"weGHQ3Jk4t2r7SPFf","bibbaseid":"pchelina-yakimovskii-ivanova-emelianov-zakharchuk-schwarzman-g2019slrrk2mutationinfamilialandsporadicparkinsonsdiseaseinrussia-2006","author_short":["Pchelina, S.","Yakimovskii, A.","Ivanova, O.","Emelianov, A.","Zakharchuk, A.","Schwarzman, A."],"bibdata":{"bibtype":"article","type":"article","author":[{"propositions":[],"lastnames":["Pchelina"],"firstnames":["S.N."],"suffixes":[]},{"propositions":[],"lastnames":["Yakimovskii"],"firstnames":["A.F."],"suffixes":[]},{"propositions":[],"lastnames":["Ivanova"],"firstnames":["O.N."],"suffixes":[]},{"propositions":[],"lastnames":["Emelianov"],"firstnames":["A.K."],"suffixes":[]},{"propositions":[],"lastnames":["Zakharchuk"],"firstnames":["A.H."],"suffixes":[]},{"propositions":[],"lastnames":["Schwarzman"],"firstnames":["A.L."],"suffixes":[]}],"title":"G2019S LRRK2 mutation in familial and sporadic Parkinson's disease in Russia","journal":"Movement Disorders","year":"2006","volume":"21","number":"12","pages":"2234-2236","doi":"10.1002/mds.21134","note":"cited By 17","url":"https://www.scopus.com/inward/record.uri?eid=2-s2.0-33846408281&doi=10.1002%2fmds.21134&partnerID=40&md5=c3f05dde5052fb088bb5c49cf1e176cb","affiliation":"Petersburg Nuclear Physics Institute, RAS, St. Petersburg, Russian Federation; St. Petersburg State Pavlov Medical University, L. Tolstogo str. 6/8, St. Petersburg, Russian Federation; St. Petersburg Cuty Geriatric Center, St. Peterburg, Russian Federation","abstract":"Among mutations associated with autosomal dominant an sporadic Parkinson's disease (PD) the G2019S substitution in the leucine-rich repeat kinase 2 (LRRK2) gene is the most frequently identified. To estimate its frequency in Russia, we analyzed 208 patients with PD from the Northwestern region of Russia. Of these, 51 patients were probands from families with PD compatible with autosomal dominant inheritance. The control group represented 161 subjects without neurological disorders settled in the same region. The frequency of the G2019S mutation was greater in familial PD (2 [3.9%] of 51) than in sporadic PD) (1 [0.6%] of 157). In addition, this mutation was found in the proband's father, who also had PD, in 1 PD family, and in 1 carrier without signs of PD at age 40 in another PD family. All carriers were heterozygous for the G2019S mutation and reported the Ashkenazi Jewish origin. The mutation was not found in the control group. © 2006 Movement Disorder Society.","author_keywords":"LRRK2; Mutation; Parkinson's disease; Russia","correspondence_address1":"Pchelina, S.N.; Department of Molecular and Gene Technologies, St. Petersburg State Pavlov Medical University, L. Tolstogo str. 6/8, St. Petersburg, Russian Federation; email: sopchelina@hotmail.com","issn":"08853185","coden":"MOVDE","pubmed_id":"17044089","language":"English","abbrev_source_title":"Mov. Disord.","document_type":"Article","source":"Scopus","bibtex":"@ARTICLE{Pchelina20062234,\r\nauthor={Pchelina, S.N. and Yakimovskii, A.F. and Ivanova, O.N. and Emelianov, A.K. and Zakharchuk, A.H. and Schwarzman, A.L.},\r\ntitle={G2019S LRRK2 mutation in familial and sporadic Parkinson's disease in Russia},\r\njournal={Movement Disorders},\r\nyear={2006},\r\nvolume={21},\r\nnumber={12},\r\npages={2234-2236},\r\ndoi={10.1002/mds.21134},\r\nnote={cited By 17},\r\nurl={https://www.scopus.com/inward/record.uri?eid=2-s2.0-33846408281&doi=10.1002%2fmds.21134&partnerID=40&md5=c3f05dde5052fb088bb5c49cf1e176cb},\r\naffiliation={Petersburg Nuclear Physics Institute, RAS, St. Petersburg, Russian Federation; St. Petersburg State Pavlov Medical University, L. Tolstogo str. 6/8, St. Petersburg, Russian Federation; St. Petersburg Cuty Geriatric Center, St. Peterburg, Russian Federation},\r\nabstract={Among mutations associated with autosomal dominant an sporadic Parkinson's disease (PD) the G2019S substitution in the leucine-rich repeat kinase 2 (LRRK2) gene is the most frequently identified. To estimate its frequency in Russia, we analyzed 208 patients with PD from the Northwestern region of Russia. Of these, 51 patients were probands from families with PD compatible with autosomal dominant inheritance. The control group represented 161 subjects without neurological disorders settled in the same region. The frequency of the G2019S mutation was greater in familial PD (2 [3.9%] of 51) than in sporadic PD) (1 [0.6%] of 157). In addition, this mutation was found in the proband's father, who also had PD, in 1 PD family, and in 1 carrier without signs of PD at age 40 in another PD family. All carriers were heterozygous for the G2019S mutation and reported the Ashkenazi Jewish origin. The mutation was not found in the control group. © 2006 Movement Disorder Society.},\r\nauthor_keywords={LRRK2; Mutation; Parkinson's disease; Russia},\r\ncorrespondence_address1={Pchelina, S.N.; Department of Molecular and Gene Technologies, St. Petersburg State Pavlov Medical University, L. Tolstogo str. 6/8, St. Petersburg, Russian Federation; email: sopchelina@hotmail.com},\r\nissn={08853185},\r\ncoden={MOVDE},\r\npubmed_id={17044089},\r\nlanguage={English},\r\nabbrev_source_title={Mov. Disord.},\r\ndocument_type={Article},\r\nsource={Scopus},\r\n}\r\n\r\n","author_short":["Pchelina, S.","Yakimovskii, A.","Ivanova, O.","Emelianov, A.","Zakharchuk, A.","Schwarzman, A."],"key":"Pchelina20062234","id":"Pchelina20062234","bibbaseid":"pchelina-yakimovskii-ivanova-emelianov-zakharchuk-schwarzman-g2019slrrk2mutationinfamilialandsporadicparkinsonsdiseaseinrussia-2006","role":"author","urls":{"Paper":"https://www.scopus.com/inward/record.uri?eid=2-s2.0-33846408281&doi=10.1002%2fmds.21134&partnerID=40&md5=c3f05dde5052fb088bb5c49cf1e176cb"},"metadata":{"authorlinks":{}}},"bibtype":"article","biburl":"https://bio.pnpi.nrcki.ru/wp-content/uploads/2019/12/lmgch_2019_10.txt","dataSources":["87fXC3NAxFNMB5YTH"],"keywords":[],"search_terms":["g2019s","lrrk2","mutation","familial","sporadic","parkinson","disease","russia","pchelina","yakimovskii","ivanova","emelianov","zakharchuk","schwarzman"],"title":"G2019S LRRK2 mutation in familial and sporadic Parkinson's disease in Russia","year":2006}