A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants

Manu Sharma; John P A Ioannidis; Jan O Aasly; Grazia Annesi; Alexis Brice; Lars Bertram; Maria Bozi; Maria Barcikowska; David Crosiers; Carl E Clarke; Maurizio F Facheris; Matthew Farrer; Gaetan Garraux; Suzana Gispert; Georg Auburger; Carles Vilariño-Güell; Georgios M Hadjigeorgiou; Andrew A Hicks; Nobutaka Hattori; Beom S Jeon; Zygmunt Jamrozik; Anna Krygowska-Wajs; Suzanne Lesage; Christina M Lill; Juei-Jueng Lin; Timothy Lynch; Peter Lichtner; Anthony E Lang; Cecile Libioulle; Miho Murata; Vincent Mok; Barbara Jasinska-Myga; George D Mellick; Karen E Morrison; Thomas Meitnger; Alexander Zimprich; Grzegorz Opala; Peter P Pramstaller; Irene Pichler; Sung Sup Park; Aldo Quattrone; Ekaterina Rogaeva; Owen A Ross; Leonidas Stefanis; Joanne D Stockton; Wataru Satake; Peter A Silburn; Tim M Strom; Jessie Theuns; Eng-King Tan; Genetic Epidemiology Of Parkinson's Disease (GEO-PD) Consortium

doi:10.1136/jmedgenet-2012-101155

A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants

Manu Sharma, John P A Ioannidis, Jan O Aasly, Grazia Annesi, Alexis Brice, Lars Bertram, Maria Bozi, Maria Barcikowska, David Crosiers, Carl E Clarke, Maurizio F Facheris, Matthew Farrer, Gaetan Garraux, Suzana Gispert, Georg Auburger, Carles Vilariño-Güell, Georgios M Hadjigeorgiou, Andrew A Hicks, Nobutaka Hattori, Beom S JeonZygmunt Jamrozik, Anna Krygowska-Wajs, Suzanne Lesage, Christina M Lill, Juei-Jueng Lin, Timothy Lynch, Peter Lichtner, Anthony E Lang, Cecile Libioulle, Miho Murata, Vincent Mok, Barbara Jasinska-Myga, George D Mellick, Karen E Morrison, Thomas Meitnger, Alexander Zimprich, Grzegorz Opala, Peter P Pramstaller, Irene Pichler, Sung Sup Park, Aldo Quattrone, Ekaterina Rogaeva, Owen A Ross, Leonidas Stefanis, Joanne D Stockton, Wataru Satake, Peter A Silburn, Tim M Strom, Jessie Theuns, Eng-King Tan, Genetic Epidemiology Of Parkinson's Disease (GEO-PD) Consortium

Physics and Astronomy

Research output: Contribution to journal › Article › peer-review

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Abstract

Two recent studies identified a mutation (p.Asp620Asn) in the vacuolar protein sorting 35 gene as a cause for an autosomal dominant form of Parkinson disease . Although additional missense variants were described, their pathogenic role yet remains inconclusive.

Original language	English
Pages (from-to)	721-6
Number of pages	6
Journal	Journal of Medical Genetics
Volume	49
Issue number	11
DOIs	https://doi.org/10.1136/jmedgenet-2012-101155
Publication status	Published - Nov 2012

Keywords

Female
Genetic Association Studies
Genetic Predisposition to Disease
Humans
Male
Mutation
Parkinson Disease
Risk Factors
Vesicular Transport Proteins

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10.1136/jmedgenet-2012-101155

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Sharma, M., Ioannidis, J. P. A., Aasly, J. O., Annesi, G., Brice, A., Bertram, L., Bozi, M., Barcikowska, M., Crosiers, D., Clarke, C. E., Facheris, M. F., Farrer, M., Garraux, G., Gispert, S., Auburger, G., Vilariño-Güell, C., Hadjigeorgiou, G. M., Hicks, A. A., Hattori, N., ... Genetic Epidemiology Of Parkinson's Disease (GEO-PD) Consortium (2012). A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants. Journal of Medical Genetics, 49(11), 721-6. https://doi.org/10.1136/jmedgenet-2012-101155

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title = "A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants",

abstract = "Two recent studies identified a mutation (p.Asp620Asn) in the vacuolar protein sorting 35 gene as a cause for an autosomal dominant form of Parkinson disease . Although additional missense variants were described, their pathogenic role yet remains inconclusive.",

keywords = "Female, Genetic Association Studies, Genetic Predisposition to Disease, Humans, Male, Mutation, Parkinson Disease, Risk Factors, Vesicular Transport Proteins",

author = "Manu Sharma and Ioannidis, {John P A} and Aasly, {Jan O} and Grazia Annesi and Alexis Brice and Lars Bertram and Maria Bozi and Maria Barcikowska and David Crosiers and Clarke, {Carl E} and Facheris, {Maurizio F} and Matthew Farrer and Gaetan Garraux and Suzana Gispert and Georg Auburger and Carles Vilari{\~n}o-G{\"u}ell and Hadjigeorgiou, {Georgios M} and Hicks, {Andrew A} and Nobutaka Hattori and Jeon, {Beom S} and Zygmunt Jamrozik and Anna Krygowska-Wajs and Suzanne Lesage and Lill, {Christina M} and Juei-Jueng Lin and Timothy Lynch and Peter Lichtner and Lang, {Anthony E} and Cecile Libioulle and Miho Murata and Vincent Mok and Barbara Jasinska-Myga and Mellick, {George D} and Morrison, {Karen E} and Thomas Meitnger and Alexander Zimprich and Grzegorz Opala and Pramstaller, {Peter P} and Irene Pichler and Park, {Sung Sup} and Aldo Quattrone and Ekaterina Rogaeva and Ross, {Owen A} and Leonidas Stefanis and Stockton, {Joanne D} and Wataru Satake and Silburn, {Peter A} and Strom, {Tim M} and Jessie Theuns and Eng-King Tan and {Genetic Epidemiology Of Parkinson's Disease (GEO-PD) Consortium}",

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doi = "10.1136/jmedgenet-2012-101155",

language = "English",

volume = "49",

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Sharma, M, Ioannidis, JPA, Aasly, JO, Annesi, G, Brice, A, Bertram, L, Bozi, M, Barcikowska, M, Crosiers, D, Clarke, CE, Facheris, MF, Farrer, M, Garraux, G, Gispert, S, Auburger, G, Vilariño-Güell, C, Hadjigeorgiou, GM, Hicks, AA, Hattori, N, Jeon, BS, Jamrozik, Z, Krygowska-Wajs, A, Lesage, S, Lill, CM, Lin, J-J, Lynch, T, Lichtner, P, Lang, AE, Libioulle, C, Murata, M, Mok, V, Jasinska-Myga, B, Mellick, GD, Morrison, KE, Meitnger, T, Zimprich, A, Opala, G, Pramstaller, PP, Pichler, I, Park, SS, Quattrone, A, Rogaeva, E, Ross, OA, Stefanis, L, Stockton, JD, Satake, W, Silburn, PA, Strom, TM, Theuns, J, Tan, E-K & Genetic Epidemiology Of Parkinson's Disease (GEO-PD) Consortium 2012, 'A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants', Journal of Medical Genetics, vol. 49, no. 11, pp. 721-6. https://doi.org/10.1136/jmedgenet-2012-101155

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T1 - A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants

AU - Sharma, Manu

AU - Ioannidis, John P A

AU - Aasly, Jan O

AU - Annesi, Grazia

AU - Brice, Alexis

AU - Bertram, Lars

AU - Bozi, Maria

AU - Barcikowska, Maria

AU - Crosiers, David

AU - Clarke, Carl E

AU - Facheris, Maurizio F

AU - Farrer, Matthew

AU - Garraux, Gaetan

AU - Gispert, Suzana

AU - Auburger, Georg

AU - Vilariño-Güell, Carles

AU - Hadjigeorgiou, Georgios M

AU - Hicks, Andrew A

AU - Hattori, Nobutaka

AU - Jeon, Beom S

AU - Jamrozik, Zygmunt

AU - Krygowska-Wajs, Anna

AU - Lesage, Suzanne

AU - Lill, Christina M

AU - Lin, Juei-Jueng

AU - Lynch, Timothy

AU - Lichtner, Peter

AU - Lang, Anthony E

AU - Libioulle, Cecile

AU - Murata, Miho

AU - Mok, Vincent

AU - Jasinska-Myga, Barbara

AU - Mellick, George D

AU - Morrison, Karen E

AU - Meitnger, Thomas

AU - Zimprich, Alexander

AU - Opala, Grzegorz

AU - Pramstaller, Peter P

AU - Pichler, Irene

AU - Park, Sung Sup

AU - Quattrone, Aldo

AU - Rogaeva, Ekaterina

AU - Ross, Owen A

AU - Stefanis, Leonidas

AU - Stockton, Joanne D

AU - Satake, Wataru

AU - Silburn, Peter A

AU - Strom, Tim M

AU - Theuns, Jessie

AU - Tan, Eng-King

AU - Genetic Epidemiology Of Parkinson's Disease (GEO-PD) Consortium

PY - 2012/11

Y1 - 2012/11

N2 - Two recent studies identified a mutation (p.Asp620Asn) in the vacuolar protein sorting 35 gene as a cause for an autosomal dominant form of Parkinson disease . Although additional missense variants were described, their pathogenic role yet remains inconclusive.

AB - Two recent studies identified a mutation (p.Asp620Asn) in the vacuolar protein sorting 35 gene as a cause for an autosomal dominant form of Parkinson disease . Although additional missense variants were described, their pathogenic role yet remains inconclusive.

KW - Female

KW - Genetic Association Studies

KW - Genetic Predisposition to Disease

KW - Humans

KW - Male

KW - Mutation

KW - Parkinson Disease

KW - Risk Factors

KW - Vesicular Transport Proteins

U2 - 10.1136/jmedgenet-2012-101155

DO - 10.1136/jmedgenet-2012-101155

M3 - Article

C2 - 23125461

VL - 49

SP - 721

EP - 726

JO - Journal of Medical Genetics

JF - Journal of Medical Genetics

SN - 0022-2593

IS - 11

ER -

A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants

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Keywords

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