Výsledky vyhledávání

Molecular analyses of the LRRK2 gene in European and North African autosomal dominant Parkinson's disease

Autor: Lesage, S, Condroyer, C, Lannuzel, A, Lohmann, E, Troiano, A, Tison, F, Damier, P, Thobois, S, Ouvrard-Hernandez, A-M, Rivaud-Péchoux, S, Brefel-Courbon, C, Destée, A, Tranchant, C, Romana, M, Leclere, L, Dürr, A, Brice, A, French Parkinson's Disease Genetics Study Group

Publikováno v: Journal of Medical Genetics
Journal of Medical Genetics, 2009, 46 (7), pp.458-64. ⟨10.1136/jmg.2008.062612⟩
Journal of Medical Genetics, Vol. 46, No 7 (2009) pp. 458-64
Journal of Medical Genetics, BMJ Publishing Group, 2009, 46 (7), pp.458-64. ⟨10.1136/jmg.2008.062612⟩

International audience; BACKGROUND: Mutations in the leucine-rich-repeat kinase 2 (LRRK2) gene have been identified in families with autosomal dominant Parkinson's disease (ADPD), the most common of which is the p.G2019S substitution that has been fo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3f6f35b9bdac0155c27a884980f6b48
https://doi.org/10.1136/jmg.2008.062612

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Akademický článek

A novel nonsense variant in REEP6 is involved in a sporadic rod‐cone dystrophy case.

Autor: Méjécase, C., Mohand‐saïd, S., El Shamieh, S., Antonio, A., Condroyer, C., Blanchard, S., Letexier, M., Saraiva, J.‐p., Sahel, J.‐a., Audo, I., Zeitz, C.

Publikováno v: Clinical Genetics; Mar2018, Vol. 93 Issue 3, p707-711, 5p, 2 Diagrams, 1 Chart

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Akademický článek

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Identification of VPS35 mutations replicated in French families with Parkinson disease

Autor: Lesage, S, Condroyer, C, Klebe, S, Honoré, A, Tison, F, Brefel-Courbon, C, Dürr, A, Brice, A, French Parkinson's Disease Genetics Study Group

Publikováno v: Neurology
Neurology, 2012, 78 (18), pp.1449-50. ⟨10.1212/WNL.0b013e318253d5f2⟩
Neurology, Vol. 78, No 18 (2012) pp. 1449-50
Neurology, American Academy of Neurology, 2012, 78 (18), pp.1449-50. ⟨10.1212/WNL.0b013e318253d5f2⟩

International audience; Parkinson disease (PD) is a progressive neurodegenerative disorder that mainly affects the elderly. Recently, the groups of Vilariño-Güell (2011) and Zimprich (2011) simultaneously reported identification, using next generat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be3982ff2c6fab63bc0ec3e2d8a04dd6
https://pubmed.ncbi.nlm.nih.gov/22517097

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A Lrrk2 G2019S Mutation Carrier From Turkey Shares The Japanese Haplotype

Autor: Pirkevi, C., Lesage, S., Condroyer, C., Tomiyama, H., Hattori, N., Ertan, S., Brice, A., Basak, A. N.

The leucine-rich repeat kinase 2 (LRRK2) G2019S mutation is recognized as the most common cause of familial autosomal dominant and also sporadic forms of Parkinson disease (PD). A common founder has been described for most Europeans and all North Afr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=r39c86a4b39b::58d3c7154715e77c62dd0131cb74acbe
https://aperta.ulakbim.gov.tr/record/40951

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Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease

Autor: Sidransky E, Nalls MA, Aasly JO, Aharon-Peretz J, Annesi G, Barbosa ER, Bar-Shira A, Berg D, Bras J, Brice A, Chen CM, Clark LN, Condroyer C, De Marco EV, Dürr A, Eblan MJ, Fahn S, Farrer MJ, Fung HC, Gan-Or Z, Gasser T, Gershoni-Baruch R, Giladi N, Griff

Publikováno v: New England journal of medicine (Online) (2009).
info:cnr-pdr/source/autori:Sidransky E, Nalls MA, Aasly JO, Aharon-Peretz J, Annesi G, Barbosa ER, Bar-Shira A, Berg D, Bras J, Brice A, Chen CM, Clark LN, Condroyer C, De Marco EV, Dürr A, Eblan MJ, Fahn S, Farrer MJ, Fung HC, Gan-Or Z, Gasser T, Gershoni-Baruch R, Giladi N, Griff/titolo:Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease./doi:/rivista:New England journal of medicine (Online)/anno:2009/pagina_da:/pagina_a:/intervallo_pagine:/volume

BACKGROUND: Recent studies indicate an increased frequency of mutations in the gene encoding glucocerebrosidase (GBA), a deficiency of which causes Gaucher's disease, among patients with Parkinson's disease. We aimed to ascertain the frequency of GBA

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=cnr_________::6a89dd2c305ef1ae4da7c180d5411a7b
https://publications.cnr.it/doc/50023

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