11 research outputs found
Theatre as a tool for developing competencies in people with intellectual disability
- Publication venue
- 'Editorial Universidad de Almeria'
- Publication date
- 01/01/2016
- Field of study
Genome-wide association analysis of dementia and its clinical endophenotypes reveal novel loci associated with Alzheimer's disease and three causality networks : The GR@ACE project
- Author
- Abdelnour Carla
- Abdelnour Carla
- Adarmes-Gómez A. D.
- Aguilera Núria
- Alarcón-Martín Emilio
- Alarcón-Martín Emilio
- Alegret Montserrat
- Amer-Ferrer G.
- Antequera M.
- Antúnez Carmen
- Baquero M.
- Benaque Alba
- Bernal M.
- Blesa R.
- Boada M.
- Buendia M.
- Buiza-Rueda D.
- Bullido M. J.
- Burguera J. A.
- Calero M.
- Carracedo A.
- Carrillo F.
- Carrión-Claro M.
- Casajeros M. J.
- Cañabate Pilar
- Clarimón Jordi
- Corbatón-Anchuelo Arturo
- Cruz-Gamero J. M.
- de Pancorbo M. M.
- De Rojas Itziar
- del Ser Teodoro
- Diego S.
- Diez-Fairen Monica.
- Espinosa Ana
- Espinosa L.
- Fortea Juan
- Franco E.
- Frank-García A.
- Gailhajenet A.
- Garcia Madrona S.
- García González P.
- García-Alberca J. M.
- García-Ribas Guillermo
- García-Ribas Guillermo
- Gil-Navarro Silvia
- González-Perez Antonio
- Guitart Míriam.
- Gómez-Garre P.
- Hernández Isabel
- Hernández-Olasagarre Begoña
- Hevilla S.
- Ibarria M.
- Jesús S.
- Lafuente Asunción
- Lage C.
- Legaz A.
- Lleó Alberto
- López de Munáin A.
- López-García S.
- Macias J.
- Macías Juan
- Macías-García Daniel
- Madrid Laura
- Manzanares S.
- Maroñas Olalla
- Marquié Marta
- Martín Montes A.
- Martín E.
- Martínez B.
- Martínez C.
- Martínez M. T.
- Martínez V.
- Martínez-Lage Álvarez P.
- Marín M.
- Marín T.
- Marín-Muñoz J.
- Mauleón Ana
- Medina M.
- Medina M.
- Mendioroz Iriarte M.
- Menéndez-González M.
- Mir P.
- Molinuevo J. L.
- Montrreal Laura
- Monté-Rubio G.
- Moreno Mariola
- Moreno-Grau Sonia.
- Orellana A.
- Ortega Gemma
- Pancho A.
- Pastor A. B.
- Pelejà E.
- Periñán-Tocino T.
- Pineda Juan Antonio
- Piñol Ripoll G.
- Piñol Ripoll G.
- Preckler Silvia
- Pástor P.
- Pérez Tur J.
- Pérez-Cordón Alba
- Quintela Inés
- Real de Asúa D.
- Real L. M.
- Rodrigo S.
- Rodríguez-Gómez Octavio
- Rodríguez-Rodríguez E.
- Rosende-Roca Maitée
- Royo J. L.
- Ruiz A.
- Ruiz A.
- Ruiz S.
- Ruiz Susana
- Rábano A.
- Sanabria A.
- Sanabria Ángela
- Sanchez del Valle Díaz R.
- Santos-Santos Miguel Ángel
- Sastre I.
- Serrano-Rios M.
- Sotolongo-Grau Oscar
- Sáez María Eugenia
- Sánchez-Juan P.
- Tárraga L.
- Universitat Autònoma de Barcelona
- Valero S.
- Vargas Liliana
- Vicente M. P.
- Vivancos L.
- Álvarez I.
- Álvarez V.
- Ávila J.
- Publication venue
- 'Elsevier BV'
- Publication date
- 01/01/2019
- Field of study
Introduction: Large variability among Alzheimer's disease (AD) cases might impact genetic discoveries and complicate dissection of underlying biological pathways. Methods: Genome Research at Fundacio ACE (GR@ACE) is a genome-wide study of dementia and its clinical endophenotypes, defined based on AD's clinical certainty and vascular burden. We assessed the impact of known AD loci across endophenotypes to generate loci categories. We incorporated gene coexpression data and conducted pathway analysis per category. Finally, to evaluate the effect of heterogeneity in genetic studies, GR@ACE series were meta-analyzed with additional genome-wide association study data sets. Results: We classified known AD loci into three categories, which might reflect the disease clinical heterogeneity. Vascular processes were only detected as a causal mechanism in probable AD. The meta-analysis strategy revealed the ANKRD31-rs4704171 and NDUFAF6-rs10098778 and confirmed SCIMP-rs7225151 and CD33-rs3865444. Discussion: The regulation of vasculature is a prominent causal component of probable AD. GR@ACE meta-analysis revealed novel AD genetic signals, strongly driven by the presence of clinical heterogeneity in the AD series
New insights into the genetic etiology of Alzheimer's disease and related dementias
- Author
- Aaltonen L.
- Aaltonen V.
- Aarsland Dag
- Aavikko M.
- Abalos M.S.
- Abdelnour Carla
- Abner E.
- Abraham R.
- Adams H.
- Adams P.M.
- Adarmes-Gómez A.
- Adarmes-Gómez A.D.
- Aguilera N.
- Aguilera N.
- Aguirre A.
- Ahmad S.
- Akinyemi R.O.
- Al-Chalabi A.
- Alarcón-Martín Emilio
- Albert M.S.
- Albin R.L.
- Alcolea Daniel
- Alegret Montserrat
- Ali M.
- Allen M.
- Allende I.R.
- Alonso M.D.
- Alonso M.D.
- Alvarez I.
- Alvarez L.
- Amer-Ferrer G.
- Amin N.
- Amouyel Philippe
- Anastasiou A.
- Anastasiou C.
- Andrade V.
- Andreassen Ole A.
- Andreoni S.
- Antequera M.
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- Antonell A.
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- Aparicio H.J.
- Apostolova L.G.
- Appollonio I.
- Arcaro M.
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- Publication venue
- Publication date
- 01/01/2022
- Field of study
Characterization of the genetic landscape of Alzheimer's disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We performed a two-stage genome-wide association study totaling 111,326 clinically diagnosed/'proxy' AD cases and 677,663 controls. We found 75 risk loci, of which 42 were new at the time of analysis. Pathway enrichment analyses confirmed the involvement of amyloid/tau pathways and highlighted microglia implication. Gene prioritization in the new loci identified 31 genes that were suggestive of new genetically associated processes, including the tumor necrosis factor alpha pathway through the linear ubiquitin chain assembly complex. We also built a new genetic risk score associated with the risk of future AD/dementia or progression from mild cognitive impairment to AD/dementia. The improvement in prediction led to a 1.6- to 1.9-fold increase in AD risk from the lowest to the highest decile, in addition to effects of age and the APOE ε4 allele
Multiancestry analysis of the HLA locus in Alzheimer’s and Parkinson’s diseases uncovers a shared adaptive immune response mediated by HLA-DRB1*04 subtypes
- Author
- Aarsland Dag
- Aarsland Dag
- Abdelnour Carla
- Abraham Richard
- Abraham Richard
- Adarmes-Gómez A.D.
- Adarmes-Gómez Ad
- Aguilera N.
- Aguilera Nuria
- Ahmad Shahzad
- Al-Chalabi Ammar
- Al-Chalabi Ammar
- Alarcon E.
- Alarcón-Martín E.
- Alarcón-Martín Emilio
- Alcolea Daniel
- Alegret M.
- Alegret Montserrat
- Alonso M.D.
- Alvarez Ignacio
- Alvarez Victoria
- Ambati Aditya
- Amer-Ferrer G.
- Amin Najaf
- Amouyel Philippe
- Amouyel Philippe
- Amouyel Phillippe
- Anastasiou Anna
- Anastasiou Costas
- Andrade Victor
- Andreassen Ole A.
- Andreassen Ole A.
- Andreassen Ole A.
- Andreoni Simona
- Annuar Azlina Ahmad
- Antequera M.
- Anthoula Tsolaki
- Antikainen Riitta
- Antonell Anna
- Antúnez C.
- Appollonio Ildebrando
- Arcaro Marina
- Archetti Silvana
- Arfan Ikram M.
- Arias Pastor Alfonso
- Ariel Prestia Federico
- Armstrong Nicola J.
- Arosio Beatrice
- Arosio Beatrice
- Assogna Francesca
- Athanasiu Lavinia
- Athanasiu Lavinia
- Au Wing-Lok
- Bahrami Shahram
- Bailly Henri
- Banaj Nerisa
- Baquero M.
- Baquero Miquel
- Bass Nicholas J.
- Bass Nick
- Bastiani Patrizia
- Bayer Anthony
- Becker Tim
- Belezhanska Diyana
- Bellenguez Céline
- Bellenguez Céline
- Bellenguez Céline
- Belloy Michael E.
- Belén Pastor Ana
- Ben-Shlomo Yoav
- Benussi Alberto
- Benussi Luisa
- Benussi Luisa
- Bergh Sverre
- Bernal M.
- Bernardo-Harrington Mateus
- Berr Claudine
- Berr Claudine
- Besse Céline
- Bessi Valentina
- Binetti Giuliano
- Bizarro Alessandra
- Bjerke Maria
- Blennow Kaj
- Blesa R.
- Blesa Rafael
- Boada M.
- Boada M.
- Boada Mercè
- Boada Mercè
- Boecker Henning
- Boland Anne
- Boland Anne
- Borroni Barbara
- Borroni Barbara
- Boschi Silvia
- Bosnes Ingunn
- Bossù Paola
- Brayne Carol
- Brayne Carol
- Bresner Catherine
- Brice Alexis
- Brodaty Henry
- Brookes Keeley J.
- Brown Kristelle
- Brown Kristelle S.
- Bråthen Geir
- Bråthen Geir
- Buendia M.
- Buendia Mar
- Buiza-Rueda D.
- Buiza-Rueda Dolores
- Bullido M.J.
- Bullido María J.
- Bullido María J.
- Burguera J.A.
- Burholt Vanessa
- BÛrger Katharina
- Caffarra Paolo
- Calero M.
- Calero Miguel
- campion Dominique
- Campos-Martin Rafael
- Cano A.
- Carracedo A.
- Carracedo Ángel
- Carrillo F.
- Carrillo F.
- Carrion-Claro M.
- Carrión-Claro M.
- Casajeros M.J.
- Castaño Eduardo M.
- Castillo Morales Atahualpa
- Cañabate P.
- Cañabate Pilar
- Cecchetti Roberta
- Cervera-Carles Laura
- Chan Anne Y.Y.
- Chao Yinxia
- Chapuis Julien
- Charbonnier Camille
- Chen Ling
- Chen Yongping
- Chene Geneviève
- Chew Elaine Guo Yan
- Chillotti Caterina
- Chipi Elena
- Chung Sun Ju
- Ciccone Simona
- Ciullo Valentina
- Claassen Jurgen A.H.R.
- Clarimon Jordi
- Clarimon Jordi
- Clarimon Jordi
- Clarimón J.
- Clark Christopher
- Clarke Robert
- Collinge John
- Collinge John
- Conti Elisa
- Corbatón-Anchuelo A.
- Cores Valeria
- Corma-Gómez Anaïs
- Costa Marcos R
- Costantini Emanuele
- Craig David
- Craig David
- Cruz-Gamero J.M.
- Cuesta Carolina
- Custodero Carlo
- Daian Delphine
- Dalmasso Maria Carolina
- Damotte Vincent
- Damotte Vincent
- Daniele Antonio
- Daniele Antonio
- Dardiotis Efthimios
- Darling Daniel
- Dartigues Jean-Francois
- Dartigues Jean-François
- David Smith A.
- David Smith A.
- Davies Chloe
- de Deyn Peter Paul
- de Mendonça Alexandre
- de Mendonça Alexandre
- de Munain Adolfo Lopez
- de Pancorbo M.M.
- De Roeck Ellen
- de Rojas I.
- de Rojas I.
- de Rojas Itziar
- de Rojas Itziar
- Debette Stéphanie
- Debette Stéphanie
- Deckert Jürgen
- del Ser T.
- del Ser Teodoro
- Del Zompo Maria
- Deleuze Jean-François
- Deleuze Jean-François
- Deloukas Panagiotis
- Deloukas Pangiotis
- den Bussche Hendrik
- Denning Nicola
- Denning Nicola
- Deramecourt Vincent
- Dermecourt Vincent
- Dichgans Martin
- Dichgans Martin
- Dichgans Martin
- Diego S.
- Diego Susana
- Diehl-Schmid Janine
- Diez-Fairen M.
- Diez-Fairen Mónica
- Dionigi Rossi Paolo
- Djurovic Srdjan
- Djurovic Srdjan
- Dolores Alonso María
- Dowzell Kimberley
- Drichel Dmitriy
- Dubois Bruno
- Dufouil Carole
- Dufouil Carole
- Dufouil Carole
- During Emmanuel
- Duron Emmanuelle
- Düzel Emrah
- Düzel Emrah
- Engelborghs Sebastiaan
- Epelbaum Jacques
- Escott-Price Valentina
- Escott-Price Valentina
- Escuela R.
- Escuela R.
- Espinosa A.
- Espinosa Ana
- Etchepareborda Ignacio
- Eugenia Sáez María
- Ewers Michael
- Fabrizio Tagliavini
- Fallgaard Nielsen Sune
- Farotti Lucia
- Fenoglio Chiara
- Fernández-Fuertes Marta
- Ferrarese Carlo
- Ferreira Catarina B
- Ferri Evelyn
- Feulner Thomas
- Fievet Nathalie
- Fievet Nathalie
- Fin Bertrand
- Fischer Peter
- Fisher Elizabeth
- Fladby Tormod
- Fladby Tormod
- Fließbach Klaus
- Foo Jia Nee
- Foo Jia Nee
- Forsell Charlotte
- Fortea J.
- Fortea Juan
- Fostinelli Silvia
- Fox Nick
- Fox Nick C.
- Fox Nick C.
- Franco E.
- Franco-Macías Emlio
- Frank-García A.
- Frank-García Ana
- Frikke-Schmidt Ruth
- Frikke-Schmidt Ruth
- Froelich Lutz
- Frölich Lutz
- Gailhajenet A.
- Gailhajenet Anna
- Galeano Pablo
- Galimberti Daniela
- Galimberti Daniela
- Gan-Or Ziv
- Garcia Madrona S.
- Garcia-Gonzalez Pablo
- Garcia-Madrona Sebastian
- Garcia-Ribas G.
- Garcia-Ribas Guillermo
- Garcia-Ribas Guillermo
- García-Alberca J.M.
- García-Alberca José María
- García-González P.
- García-González Pablo
- García-González Pablo
- Garrote-Espina L.
- Garrote-Espina L.
- Germani Sandra
- Gerrish Amy
- Gerrish Amy
- Ghanbari Mohsen
- Ghidoni Roberta
- Giedraitis Vilmantas
- Giedraitis Vilmantas
- Giegling Ina
- Giegling Ina
- Gill Michael
- Gill Michael
- Gill Michael
- Gim Jungsoo
- Giorgio Giaccone
- Goldhardt Oliver
- Goldhardt Oliver
- González-Péerez A.
- González-Pérez Antonio
- Graff Caroline
- Graff Caroline
- Grande Giulia
- Green Emma
- Greicius Michael D.
- Grenier-Boley Benjamin
- Grenier-Boley Benjamin
- Grenier-Boley Benjamin
- Grimmer Timo
- Grünblatt Edna
- Grünblatt Edna
- Gu Wei
- Guerreiro Rita
- Guetta-Baranes Tamar
- Guitart M.
- Guitart Marina
- Gurling Hugh
- Gwilliam Rhian
- Gwilliam Rhian
- Gómez-Garre P.
- Gómez-Garre P.
- Haapasalo Annakaisa
- Hadjigeorgiou Georgios
- Hampel Harald
- Hampel Harald
- Hannequin Didier
- Hanon Olivier
- Hanon Olivier
- Hanon Olivier
- Hardy John
- Hardy John
- Hardy John
- Harold Denise
- Harold Denise
- Hartmann Annette M.
- Hartmann Annette M.
- Harwood Janet
- Hausner Lucrezia
- Hausner Lucrezia
- He Zihuai
- Heilmann-Heimbach Stefanie
- Heilmann-Heimbach Stefanie
- Helisalmi Seppo
- Heneka Michael T.
- Hernández Isabel
- Herold Christine
- Herrmann Martin J.
- Heun Reinhard
- Heuser Isabella
- Hevilla S.
- Hiltunen Mikko
- Hiltunen Mikko
- Hodges Angela
- Hoffmann Per
- Hoffmann Per
- Hollingworth Paul
- Hollingworth Paul
- Holmans Peter
- Holmans Peter A.
- Holmes Clive
- Holmes Clive
- Holstege Henne
- Holstege Henne
- Hooper Nigel M.
- Hort Jakub
- Hort Jakub
- Huerto Vilas Raquel
- Hulsman Marc
- Hüll Michael
- Ibarria M.
- Ibarria Marta
- Ignacio Bacha Juan
- Ignacio Brusco Luis
- Ikeuchi Takeshi
- Ingelsson Martin
- Ingelsson Martin
- Ingino Carlos
- Jan Biessels Geert
- Janowitz Daniel
- Jansen Iris
- Jansen Iris
- Jeon Beom S.
- Jessen Frank
- Jessen Frank
- Jessen Frank
- Jesús S.
- Jesús S.
- Jiang Lulu
- Johansson Charlotte
- Johnston Janet A.
- Johnston Jarret A.
- Jones Lesley
- Jones Lesley
- Jung Yoo Jin
- Jöckel Karl-Heinz
- Jürgen Deckert
- Kauwe John
- Kehoe Patrick
- Kehoe Patrick G.
- Kehoe Patrick G.
- Kern Silke
- Khor Chiea Chuen
- Kilander Lena
- Kinhult Ståhlbom Anne
- Kivipelto Miia
- Kleineidam Luca
- Klopp Norman
- Kochen Silvia
- Koh Woon-Puay
- Kohler Eduardo
- Kohler Matias
- Koivisto Anne
- Kornhuber Johannes
- Kornhuber Johannes
- Kosmidis Mary H.
- Kuulasmaa Teemu
- Kuulasmaa Teemu
- Kölsch Heike
- Küçükali Fahri
- Küçükali Fahri
- Laatikainen Tiina
- Labrador Espinosa M.A.
- Labrador Ma
- Lacidogna Giordano
- Lacour ndré
- Laczo Jan
- Lafuente A.
- Lafuente Asunción
- Lage C.
- Lage Carmen
- Lage Carmen
- Lambert Jean-Charles
- Lambert Jean-Charles
- Lambert Jean-Charles
- Laske Christoph
- Laukka Erika J
- Lauria Alessandra
- Lawlor Brian
- Lawlor Brian
- Le Guen Yann
- Lee Kun Ho
- Legaz A.
- Lehtisalo Jenni
- Lerch Ondrej
- Lian Michelle M.
- Lian Michelle Mulan
- Lim Jia Lun
- Lim Shen-Yang
- Lin Juei-Jueng
- Lin Ling
- Lindström Jaana
- Lis Palacio Dana
- Lisso Julieta
- Liu Chunfeng
- Liu Jianjun
- Livingston Gill
- Livingston Gill
- Lleó Alberto
- Lleóo A.
- Lord Jenny
- Love Seth
- Love Seth
- Lovestone Simon
- Lovestone Simon
- Luckcuck Lauren
- Luckcuck Lauren
- Luis Royo Jose
- Luo Guo
- Lupton Michelle
- Lupton Michelle
- Luís Royo Jose
- Lynch Aoibhinn
- Lynch Aoibhinn
- Lóopez de Munáin A.
- López-García S.
- López-García Sara
- Löwemark Malin
- Macias J.
- Macias-García D.
- Macias-García D.
- MacLeod Catherine A.
- Macías Juan
- Magda Tsolaki
- Maier Wolfgang
- Maier Wolfgang
- Malik Rainer
- Mangialasche Francesca
- Mangone Carlos
- Mann David
- Mann David
- Manzanares S.
- Mao Chengjie
- Marco Spallazzi
- Maria García-Alberca Jose
- Maroñas O.
- Marquié M.
- Marquié M.
- Marquié Marta
- Marshall Rachel
- Marshall Rachel
- Martín Montes A.
- Martín Montes Angel
- Martín E.
- Martín Elvira
- Martínez Rodríguez Carmen
- Martínez B.
- Martínez C.
- Martínez M.T.
- Martínez V.
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- Zettergren Anna
- Zhang Jing
- Zulaica Miren
- Álvarez I.
- Álvarez V.
- Álvarez Victoria
- Publication venue
- National Academy of Sciences
- Publication date
- 29/08/2023
- Field of study
Across multiancestry groups, we analyzed Human Leukocyte Antigen (HLA) associations in over 176,000 individuals with Parkinson’s disease (PD) and Alzheimer’s disease (AD) versus controls. We demonstrate that the two diseases share the same protective association at the HLA locus. HLA-specific fine-mapping showed that hierarchical protective effects of HLA-DRB1*04 subtypes best accounted for the association, strongest with HLA-DRB1*04:04 and HLA-DRB1*04:07, and intermediary with HLA-DRB1*04:01 and HLA-DRB1*04:03. The same signal was associated with decreased neurofibrillary tangles in postmortem brains and was associated with reduced tau levels in cerebrospinal fluid and to a lower extent with increased Aβ42. Protective HLA-DRB1*04 subtypes strongly bound the aggregation-prone tau PHF6 sequence, however only when acetylated at a lysine (K311), a common posttranslational modification central to tau aggregation. An HLA-DRB1*04-mediated adaptive immune response decreases PD and AD risks, potentially by acting against tau, offering the possibility of therapeutic avenues
Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study
- Author
- 't Hart Ellen P.
- ?a?inková Pavla
- Aaserud Olaf
- Abbruzzese Giovanni
- Acharya T.
- Akhtar Shahbana
- Albanese Alberto
- Alegre Javier
- Alegre Javier
- Allain Philippe
- Alusi Sundus
- Amico Enrico
- Andrade Carlos
- Andrews S. C.
- Andrews Thomasin
- Andrews Thomasin
- Anheim Mathieu
- Antczak Jakub
- Armstrong Matthew
- Armstrong Richard
- Arques Penelope Navas
- Arran N.
- Arran Natalie
- Artiga María José Saiz
- Axelson E.
- Azulay Jean-Philippe
- Baake Verena
- Babiloni Blandine
- Bachoud-Lévi Anne-Catherine
- Banaszkiewicz Krzysztof
- Bandmann Oliver
- Barbera Miquel Aguilar
- Bardinet E.
- Barker Roger A.
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- Barth Katrin
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- Bentivoglio Rita
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- Robertson Nicola
- Robowski Piotr
- Roca Alessandro
- Rodríguez María José Torres
- Rogers Dawn
- Rohm Stefanie
- Rola Rafal
- Romano Silvia
- Romero Irene
- Romoli Anna Maria
- Roos Raymund
- Roos Raymund A. C.
- Roos Raymund A. C.
- Rosas H. D.
- Rosser Anne
- Rosser Elisabeth
- Roth Jan
- Rothery Jean
- Roussel Martine
- Rowett Liz
- Ruddy Deborah
- Rudolf Gabrielle
- Rudzinska Monika
- Rumpf Silke
- Russo Cinzia Valeria
- Ruíz Pedro J. García
- Ryglewicz Danuta
- Røren Niini
- Sablonnière Bernard
- Saft Carsten
- Salvador Carlos
- Salvatore Elena
- Samara Husam
- Sando Sigrid Botne
- Santhouse Alastair
- Santos R. Dar
- Sass Christian
- Say M.
- Scaglione Cesa
- Scahill R.
- Scheibl Monika
- Schepers Sigrun
- Scherer-Gagou Clarisse
- Schiefer Johannes
- Schlangen Christiane
- Schmalfeld Jenny
- Schmidt Simone
- Schneider Ariane
- Schrader Christoph
- Schwenk Daniela
- Schöggl Helmut
- Schüpbach Michael
- Sciruicchio Vittorio
- Sebastián A. Rojo
- Sebastián Ana Rojo
- Sempolowicz Justyna
- Seppi Klaus
- Serpino Claudia
- Sienkiewicz-Jarosz Halina
- Sieradzan Kasia
- Silva Mark
- Simonin Clémence
- Simpson Sheila A.
- Sitek Emilia
- Siuda Gill
- Slawek Jaroslaw
- Smith Paul
- Snowden Julie
- Soleti Francesco
- Soliveri Paola
- Sollom Andrea
- Soltan Witold
- Soltysiak Beverley
- Somers Nele
- Sorbi Sandro
- Sorrentino Pierpaolo
- Spadaro Maria
- Spampinato Umberto
- Sprenger Fabienne
- Spruth Eike Jakob
- Squitieri Ferdinando
- Stattin Eva-Lena
- Stebler Yanik
- Stepniak Iwona
- Stokke Bodil
- Stompel Daniel
- Stopford C.
- Stopford Cheryl
- Storch Alexander
- Stout J.
- Stubbe Lars
- Sturrock A.
- Stárková Irena
- Städtler Michael
- Suarez María José Lama
- Sulek Anna
- Summers Fiona
- Swain Rachel
- Szczudlik Andrzej
- Szczygiel Elzbieta
- Szinwelski Michal
- Sánchez Vicenta
- Süßmuth Sigurd
- t'Hart E. P.
- Tabrizi Sarah
- Tabrizi Sarah
- Tabrizi Sarah J.
- Tacik Pawel
- Tan Louis
- Taylor Cat
- Taylor Rachel
- Thibault-Tanchou Stéphanie
- Thomas Gareth
- Thompson Catherine
- Thompson Jennifer
- Thomson Aileen
- Tidswell Katherine
- Timewell Erika
- Tobin A.
- Tomasello Chiara
- Torres María Martirio Antequera
- Toscano Jean
- Townhill Jenny
- Townhill Jenny
- TRACK-HD investigators
- Tranchant Christine
- Trautmann Sonja
- Trender-Gerhard Iris
- Tuuha Katri
- Uhrova Tereza
- Ullah Jasmin
- Ure Alexandra
- Valabrègue R.
- Valadas Anabela
- Valentine Ruth
- van den Bogaard S. J. A.
- van den Bogaard Simon J. A.
- van der Grond J.
- van Hout Monique S. E.
- van Oostrom J. C. H.
- van Paemel Dominique
- van Reijen Dimphna
- van Vugt Jeroen P. P.
- van Walsem Marleen R.
- van Walsem Marleen R.
- Vandenberghe Wim
- Vandenberghe Wim
- Vargas-González Laura
- Vaughan Vivien
- Ventura Marta Fatás
- Verellen-Dumoulin Christine
- Verellen-Dumoulin Christine
- Verhoeven Marloes E.
- Verny Christophe
- Verstappen C. C. P.
- Verstraelen Nichola
- Viladrich Celia Mareca
- Vilaplana Garcia Carmen Peiró
- Villanueva Clara
- Vinther-Jensen Tua
- Vuillaume Isabelle
- Wahlström Jan
- Wahlström Jan
- Wang C.
- Wannepain Sandrine
- Warner Thomas
- Wasielewska Anna
- Weber Zaugg Sabine
- Weber Natalia
- Wehus Ragnhild
- Weindl Adolf
- Wenning Gregor
- Wentzel Magnus
- Werner Cornelius J.
- Westman Laila
- Westmoreland Leann
- Weydt Patrick
- Whaite Anna
- Whalstedt Carina
- Whitehead D.
- Whitlock K.
- Wiedemann Alexandra
- Wikström Birgitta
- Wild E.
- Wild Edward
- Wild Sue
- Wild Sue
- Winkelmann Juliane
- Witjes-Ane M.-N.
- Witjes-Ané Marie-Noelle
- Witkowski Grzegorz
- Witkowski Grzegorz
- Wolz Annett
- Wolz Martin
- Wright Abigail
- Wright Abigail
- Wright Jan
- Wójcik Magdalena
- Yardumian Pam
- Yardumian Pam
- Yates Shona
- Zaremba Jacek
- Zaremba Jacek
- Zdzienicka Elzbieta
- Ziegler Cornelia
- Zielonka Daniel
- Zielonka Daniel
- Zielonka Eugeniusz
- Zieora-Jakutowicz Karolina
- Zimmermann Marie-Agathe
- Zinzi Paola
- Zinzi Paola
- Zittel Simone
- Zucker Birgit
- Publication venue
- 'Elsevier BV'
- Publication date
- 01/01/2017
- Field of study
Background Huntington's disease is caused by a CAG repeat expansion in the huntingtin gene, HTT. Age at onset has been used as a quantitative phenotype in genetic analysis looking for Huntington's disease modifiers, but is hard to define and not always available. Therefore, we aimed to generate a novel measure of disease progression and to identify genetic markers associated with this progression measure. Methods We generated a progression score on the basis of principal component analysis of prospectively acquired longitudinal changes in motor, cognitive, and imaging measures in the 218 indivduals in the TRACK-HD cohort of Huntington's disease gene mutation carriers (data collected 2008–11). We generated a parallel progression score using data from 1773 previously genotyped participants from the European Huntington's Disease Network REGISTRY study of Huntington's disease mutation carriers (data collected 2003–13). We did a genome-wide association analyses in terms of progression for 216 TRACK-HD participants and 1773 REGISTRY participants, then a meta-analysis of these results was undertaken. Findings Longitudinal motor, cognitive, and imaging scores were correlated with each other in TRACK-HD participants, justifying use of a single, cross-domain measure of disease progression in both studies. The TRACK-HD and REGISTRY progression measures were correlated with each other (r=0·674), and with age at onset (TRACK-HD, r=0·315; REGISTRY, r=0·234). The meta-analysis of progression in TRACK-HD and REGISTRY gave a genome-wide significant signal (p=1·12 × 10−10) on chromosome 5 spanning three genes: MSH3, DHFR, and MTRNR2L2. The genes in this locus were associated with progression in TRACK-HD (MSH3 p=2·94 × 10−8 DHFR p=8·37 × 10−7 MTRNR2L2 p=2·15 × 10−9) and to a lesser extent in REGISTRY (MSH3 p=9·36 × 10−4 DHFR p=8·45 × 10−4 MTRNR2L2 p=1·20 × 10−3). The lead single nucleotide polymorphism (SNP) in TRACK-HD (rs557874766) was genome-wide significant in the meta-analysis (p=1·58 × 10−8), and encodes an aminoacid change (Pro67Ala) in MSH3. In TRACK-HD, each copy of the minor allele at this SNP was associated with a 0·4 units per year (95% CI 0·16–0·66) reduction in the rate of change of the Unified Huntington's Disease Rating Scale (UHDRS) Total Motor Score, and a reduction of 0·12 units per year (95% CI 0·06–0·18) in the rate of change of UHDRS Total Functional Capacity score. These associations remained significant after adjusting for age of onset. Interpretation The multidomain progression measure in TRACK-HD was associated with a functional variant that was genome-wide significant in our meta-analysis. The association in only 216 participants implies that the progression measure is a sensitive reflection of disease burden, that the effect size at this locus is large, or both. Knockout of Msh3 reduces somatic expansion in Huntington's disease mouse models, suggesting this mechanism as an area for future therapeutic investigation
Leptin gene therapy attenuates neuronal damages evoked by amyloid-β and rescues memory deficits in APP/PS1 mice
- Author
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 25/02/2015
- Field of study
There is growing evidence that leptin is able to ameliorate Alzheimer's disease (AD)-like pathologies, including brain amyloid-β (Aβ) burden. In order to improve the therapeutic potential for AD, we generated a lentivirus vector expressing leptin protein in a self-inactivating HIV-1 vector (HIV-leptin), and delivered this by intra-cerebroventricular administration to APP/PS1 transgenic model of AD. Three months after intra-cerebroventricular administration of HIV-leptin, brain Aβ accumulation was reduced. By electron microscopy, we found that APP/PS1 mice exhibited deficits in synaptic density, which were partially rescued by HIV-leptin treatment. Synaptic deficits in APP/PS1 mice correlated with an enhancement of caspase-3 expression, and a reduction in synaptophysin levels in synaptosome preparations. Notably, HIV-leptin therapy reverted these dysfunctions. Moreover, leptin modulated neurite outgrowth in primary neuronal cultures, and rescued them from Aβ 42-induced toxicity. All the above changes suggest that leptin may affect multiple aspects of the synaptic status, and correlate with behavioral improvements. Our data suggest that leptin gene delivery has a therapeutic potential for Aβ-targeted treatment of mouse model of AD. © 2014 Macmillan Publishers Limited.Peer Reviewe
Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores
- Author
- Aarsland Dag
- Abdelnour C.
- Abdelnour Carla
- Adarmes-Gómez A. D.
- Aguilera N.
- Alarcon E.
- Alarcón-Martín E.
- Alarcón-Martín Emilio
- Alcolea Daniel
- Alegret M.
- Alegret Montserrat
- Alonso M. D.
- Alvarez Ignacio
- Amer-Ferrer G.
- Amouyel Philippe
- Anastasiou Anna
- Anastasiou Costas
- Andrade Victor
- Andreassen Ole A.
- Andreoni Simona
- Antequera M.
- Antikainen Riitta
- Antonell Anna
- Antúnez C.
- Antúnez Carmen
- Appollonio Ildebrando
- Arcaro Marina
- Archetti Silvana
- Arias Pastor Alfonso
- Armstrong Nicola J.
- Arosio Beatrice
- Assogna Francesca
- Bacha Juan Ignacio
- Bagnoli Silvia
- Bailly Henri
- Banaj Nerisa
- Baquero M.
- Baquero Miquel
- Bastiani Patrizia
- Belezhanska Diyana
- Bellenguez Céline
- Bellou Eftychia
- Benaque A.
- Benaque Alba
- Bennett K.
- Benussi Alberto
- Benussi Luisa
- Bernal Sánchez-Arjona María
- Bernal M.
- Besse Céline
- Bessi Valentina
- Binetti Giuliano
- Bis Joshua C.
- Bizzarro Alessandra
- Bjerke Maria
- Blennow Kaj
- Blesa R.
- Blesa Rafael
- Boada M.
- Boada M.
- Boada Mercè
- Boecker Henning
- Boerwinkle Eric
- Boland Anne
- Borroni Barbara
- Boschi Silvia
- Bossù Paola
- Botne Sando Sigrid
- Brayne Carol
- Bresner Catherine
- Brusco Luis Ignacio
- Buendia M.
- Buerger Katharina
- Buiza-Rueda D.
- Buiza-Rueda D.
- Bullido M. J.
- Bullido María J.
- Burguera J. A.
- Burholt Vanessa
- Caffarra Paolo
- Calero M.
- Calero Miguel
- Carracedo A.
- Carracedo Ángel
- Carrillo F.
- Carrión-Claro M.
- Casajeros M. J.
- Castaño Eduardo M.
- Cañabate P.
- Cecchetti Roberta
- Cervera-Carles Laura
- Charbonnier Camille
- Chillotti Caterina
- Chipi Elena
- Chêne Geneviève
- Ciccone Simona
- Ciullo Valentina
- Clare Linda
- Clarimón Jordi
- Clarimón Jordi
- Clark Christopher
- Conti Elisa
- Corbatón-Anchuelo A.
- Corbatón-Anchuelo Arturo
- Cores Valeria
- Corma-Gómez Anaïs
- Costantini Emanuele
- Craig David
- Cruz-Gamero J. M.
- Cuesta Carolina
- Custodero Carlo
- Daian Delphine
- Dalmasso Maria Carolina
- Daniele Antonio
- Dardiotis Efthimios
- de Mendonça Alexandre
- de Pancorbo M. M.
- De Roeck Ellen
- de Rojas I.
- de Rojas I.
- de Rojas Itziar
- Deckert Jürgen
- del Ser T.
- del Ser Teodoro
- Del Zompo Maria
- Deleuze Jean François
- Deniz-Naranjo M. Candida
- Deramecourt Vincent
- DeStefano Anita L.
- Dichgans Martin
- Diego S.
- Diehl-Schmid Janine
- Diez-Fairen M.
- Diez-Fairen Mónica
- Dionigi Rossi Paolo
- Djurovic Srdjan
- Dufouil Carole
- Duron Emmanuelle
- Düzel Emrah
- Engelborghs Sebastiaan
- Escott-Price Valentina
- Escuela R.
- Esiri Margaret
- Espinosa A.
- Espinosa Ana
- Etchepareborda Ignacio
- Ewers Michael
- Farotti Lucia
- Farrer Lindsay A.
- Fenoglio Chiara
- Fernández-Fuertes Marta
- Ferrarese Carlo
- Ferrari Camilla
- Ferreira Catarina B.
- Ferri Evelyn
- Fin Bertrand
- Fischer Peter
- Fließbach Klaus
- Fornage Myriam
- Fortea J.
- Fortea Juan
- Fostinelli Silvia
- Fox Nick C.
- Franco-Macías E.
- Franco-Macías Emilio
- Frank-García A.
- Frank-García A.
- Frikke-Schmidt Ruth
- Froelich Lutz
- Gailhajenet A.
- Galeano Pablo
- Galimberti Daniela
- Garcia Madrona S.
- Garcia-Ribas Guillermo
- Garcia-Ribas Guillermo
- García-Alberca J. M.
- García-Alberca Jose María
- García-González P.
- García-González Pablo
- García-Madrona Sebastián
- Garrote-Espina L.
- Gelpi Ellen
- Germani Sandra
- Ghidoni Roberta
- Giaccone Giorgio
- Giedraitis Vilmantas
- Giegling Ina
- Gil S.
- Gil Silvia
- Goldhardt Oliver
- González-Perez Antonio
- González-Pérez A.
- Graff Caroline
- Grande Giulia
- Greco Antonio
- Grenier-Boley Benjamin
- Grimmer Timo
- Grozeva Detelina
- Grünblatt Edna
- Guitart M.
- Gómez-Garre P.
- Haapasalo Annakaisa
- Hadjigeorgiou Georgios
- Haines Jonathan L.
- Hampel Harald
- Hanon Oliver
- Harris Jenny
- Hartmann Annette M.
- Harwood Janet
- Hausner Lucrezia
- Heilmann-Heimbach Stefanie
- Helisalmi Seppo
- Heneka Michael T.
- Hernández I.
- Hernández I.
- Hernández I.
- Herrman Martin J.
- Herrmann Martin J.
- Heun Reinhard
- Hevilla S.
- Hiltunen Mikko
- Hoffmann Per
- Holmans Peter A.
- Holmes Clive
- Holstege Henne
- Hooper Nigel M.
- Hort Jakub
- Huerto Vilas Raquel
- Huisman Martijn
- Hulsman Marc
- Hägg Sara
- Ibarria M.
- Ikram M. Arfan
- Ingelsson Martin
- Ingino Carlos
- Janowitz Daniel
- Jansen Iris E.
- Jansen Iris E.
- Jessen Frank
- Jesús S.
- Jian Xueqiu
- Joachim Catharine
- Johansson Charlotte
- Johnston Janet
- Jones Matthew
- Jürgen Deckert
- Kalaria Rajesh N.
- Karlsson Ida K.
- Kehoe Patrick Gavin
- Kern Silke
- Kilander Lena
- Kinhult Ståhlbom Anne
- Kivipelto Miia
- Kleineidam Luca
- Kochen Silvia
- Kohler Eduardo
- Kohler Matias
- Koivisto Anne
- Kok Almar A.L.
- Kornhuber Johannes
- Kosmidis Mary H.
- Kosmidis Mary H.
- Koutsouraki Effrosyni
- Kunkle Brian W.
- Kuulasmaa Teemu
- Kölsch Heike
- Küçükali Fahri
- Laatikainen Tiina
- Labrador Espinosa M. A.
- Lacidogna Giordano
- Laczo Jan
- Lafuente A.
- Lage C.
- Lage Carmen
- Lambert Jean Charles
- Laske Christoph
- Lauria Alessandra
- Lebouvier Thibaud
- Legaz A.
- Lehtisalo Jenni
- Lemstra Afina W.
- Leonenko Ganna
- Lerch Ondrej
- Lindström Jaana
- Lisetti Viviana
- Lisso Julieta
- Lleó A.
- Lleó Alberto
- Lopez de Munain A.
- Lopez de Munain Adolfo
- Love Seth
- Luckuck Lauren
- López-García S.
- López-García Sara
- Löwenmark Malin
- Macias J.
- Macias-García D.
- Macleod C.
- Macías Juan
- Maier Wolfgang
- Mangialasche Francesca
- Mangone Carlos
- Mann David M.
- Manzanares S.
- Marianthi Arnaoutoglou
- Maroñas O.
- Marquié M.
- Marquié M.
- Marquié Marta
- Marshall Rachel
- Martín Montes A.
- Martín Montes Angel
- Martín E.
- Martínez Rodríguez Carmen
- Martínez B.
- Martínez C.
- Martínez Carmen
- Martínez M. T.
- Martínez V.
- Martínez-Lage Álvarez P.
- Martínez-Larrad María Teresa
- Marín M.
- Marín T.
- Marín-Muñoz J.
- Masullo Carlo
- Mather Karen A.
- Matoska Vaclav
- Matthews F.
- Mauleón A.
- Mayeux Richard
- McCracken C.
- McGuinness Bernadette
- Mead Simon
- Mecocci Patrizia
- Medel Nancy
- Medina M.
- Medina Miguel
- Meggy Alun
- Mehrabian Shima
- Mendioroz Iriarte M.
- Mendoza Silvia
- Menzies Georgina
- Menéndez-González M.
- Menéndez-González M.
- Mihova Kalina Yonkova
- Mir P.
- Mir Pablo
- Molina-Porcel Laura
- Molinuevo J. L.
- Montrreal L.
- Montrreal Laura
- Morelli Laura
- Moreno Fermin
- Moreno M.
- Moreno-Grau S.
- Moreno-Grau S.
- Morgan Kevin
- Muchnik Carolina
- Muñoz-Fernandez Carmen
- Nacmias Benedetta
- Naj Adam C.
- Natunen Teemu
- Neary David
- Ngandu Tiia
- Nicolas Gaël
- Nordestgaard Børge G.
- Novack Gisela
- Nöthen Markus M.
- Olaso Robert
- Olivar Natividad
- Orellana A.
- Orellana Adelina
- Orsini Michela
- Ortega G.
- Ortega Gemma
- Ortiz Cecilia
- Padovani Alessandro
- Palacio Dana Lis
- Pancho A.
- Papenberg Goran
- Parnetti Lucilla
- Pasquier Florence
- Passmore Peter
- Pastor Ana Belén
- Pastor P.
- Pastor Pau
- Pedersen Nancy L.
- Pelejá E.
- Peltonen Markku
- Pericak-Vance Margaret A.
- Periñán-Tocino T.
- Perneczky Robert
- Peters Oliver
- Phillips Judith
- Piaceri Irene
- Pickering-Brown Stuart
- Pijnenburg Yolande A.L.
- Pineda J. A.
- Pineda Juan A.
- Pineda-Sanchez R.
- Piras Fabrizio
- Piras Federica
- Pisanu Claudia
- Piñol-Ripoll G.
- Piñol-Ripoll Gerard
- Polak Thomas
- Politis Daniel G.
- Polvikoski Tuomo M.
- Popp Julius
- Posthuma Danielle
- Preckler S.
- Prestia Federico Ariel
- Priller Josef
- Pérez Tur J.
- Pérez-Cordon A.
- Pérez-Cordón Alba
- Pérez-Tur Jordi
- Quenez Olivier
- Quintela I.
- Quintela I.
- Rainer Malik
- Rainero Innocenzo
- Ramirez Alfredo
- Real de Asúa D.
- Real Luis M.
- Real Luis M.
- Reyes Toso Carlos
- Reynolds Chandra A.
- Richardson Anna
- Riedel-Heller Steffi
- Riederer Peter
- Rios Mario
- Roberto Natalia
- Rodrigo S.
- Rodriguez-Rodriguez Eloy
- Rodríguez-Rodríguez E.
- Rojo Matias
- Rongve Arvid
- Rongve Arvid
- Rosas Allende Irene
- Rosende-Roca M.
- Rosende-Roca Maitée
- Rossi Giacomina
- Roveta Fausto
- Royo J. L.
- Royo Jose Luís
- Rubino Elisa
- Ruiz A.
- Ruiz A.
- Ruiz Agustín
- Rujescu Dan
- Rábano A.
- Rábano A.
- Saad Salha
- Saenz Aldo
- Sakka Paraskevi
- Sala Gessica
- Salani Francesca
- Saltvedt Ingvild
- Salvadori Nicola
- Sanabria A.
- Sanabria Ángela
- Sanchez Abalos Mariana
- Sanchez del Valle Díaz R.
- Sanchez-Garcia Florentino
- Sastre I.
- Satizabal Claudia L.
- Scamosci Michela
- Scarmeas Nikolaos
- Scarpini Elio
- Schellenberg Gerard D.
- Scheltens Philip
- Scherbaum Norbert
- Scherer Martin
- Schmid Matthias
- Schneider Anja
- Schott Jonathan M.
- Seidu Nazib M.
- Selbæk Geir
- Seripa Davide
- Serpente Maria
- Serrano-Rios M.
- Serrano-Ríos Manuel
- Seshadri Sudha
- Sevillano Zulma
- Sims Rebecca
- Skoog Ingmar
- Skrobot Olivia Anna
- Sleegers Kristel
- Smith A. David
- Snowden Julie
- Soininen Hilkka
- Solfrizzi Vincenzo
- Solis Patricia
- Solomon Alina
- Sommerville Ewen W.
- Sorbi Sandro
- Sotolongo-Grau O.
- Sotolongo-Grau Oscar
- Spallazzi Marco
- Spalletta Gianfranco
- Spottke Annika
- Squassina Alessio
- Strandberg Timo
- Stringa Najada
- Sáez M. E.
- Sáez María Eugenia
- Sánchez-Juan P.
- Sánchez-Juan Pascual
- Sánchez-Valle Raquel
- Tagliavini Fabrizio
- Takalo Mari
- Tankard Rick M.
- Tegos Thomas
- Teipel Stefan
- Tesi Niccolo
- Thomassen Jesper Qvist
- Thonberg Håkan
- Todd Stephen
- Traykov Latchezar
- Tremolizzo Lucio
- Tsolaki Magda
- Tuomilehto Jaakko
- Tybjærg-Hansen Anne
- Tárraga L.
- Tárraga Lluís
- Ullgren Abbe
- Vacca Alessandro
- Valero S.
- Valero S.
- Valero Sergi
- Van Broeckhoven Christine
- van der Flier Wiesje M.
- van der Lee Sven J.
- Van Dongen Jasper
- van Duijn Cornelia M.
- van Schoor Natasja M.
- Vandenberghe Rik
- Vardy Emma R.L.C.
- Vargas L.
- Vicente M. P.
- Vidal Jean Sebastien
- Vigo-Ortega R.
- Vivancos L.
- Vogelgsang Jonathan
- Vyhnalek Martin
- Wagner Michael
- Wallon David
- Wang Li San
- Weber Heike
- Weinhold Leonie
- Wilcock Gordon
- Williams Julie
- Wiltfang Jens
- Windle Gill
- Woods Robert
- Yang Qiong
- Yannakoulia Mary
- Zetterberg Henrik
- Zettergren Anna
- Zoia Chiara Paola
- Zulaica Miren
- Álvarez I.
- Álvarez V.
- Álvarez Victoria
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 07/06/2021
- Field of study
Genetic discoveries of Alzheimer’s disease are the drivers of our understanding, and together with polygenetic risk stratification can contribute towards planning of feasible and efficient preventive and curative clinical trials. We first perform a large genetic association study by merging all available case-control datasets and by-proxy study results (discovery n = 409,435 and validation size n = 58,190). Here, we add six variants associated with Alzheimer’s disease risk (near APP, CHRNE, PRKD3/NDUFAF7, PLCG2 and two exonic variants in the SHARPIN gene). Assessment of the polygenic risk score and stratifying by APOE reveal a 4 to 5.5 years difference in median age at onset of Alzheimer’s disease patients in APOE ɛ4 carriers. Because of this study, the underlying mechanisms of APP can be studied to refine the amyloid cascade and the polygenic risk score provides a tool to select individuals at high risk of Alzheimer’s disease
New insights into the genetic etiology of Alzheimer’s disease and related dementias
- Author
- A David Smith
- Aaltonen L.
- Aaltonen V.
- Aarno Palotie
- Aarsland D.
- Aavikko M.
- Abalos M. S.
- Abdelnour C.
- Abner E.
- Abraham R.
- Ad Adarmes-Gómez
- Adam Boxer
- Adam Ziemann
- Adams H.
- Adams P. M.
- Adarmes-Gómez A.
- Adarmes-Gómez A. D.
- Adriana Gamboa
- Adrienne L Cupples
- Adrienne Tin
- Aguilera N.
- Aguilera N.
- Aguirre A.
- Agustina Legaz
- Ahmad S.
- Aimee Pierce
- Aino Salminen
- Airi Jussila
- Aisha Khaleeq
- Aki Havulinna
- Akinyemi R. O.
- Al-Chalabi A.
- Alan B Stevens
- Alan Lerner
- Alarcón-Martín E.
- Albert M. S.
- Alberto Benussi
- Albin R. L.
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- Zulma Sevillano
- Álvarez V.
- Åsa Hedman
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/2022
- Field of study
Characterization of the genetic landscape of Alzheimer’s disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We performed a two-stage genome-wide association study totaling 111,326 clinically diagnosed/‘proxy’ AD cases and 677,663 controls. We found 75 risk loci, of which 42 were new at the time of analysis. Pathway enrichment analyses confirmed the involvement of amyloid/tau pathways and highlighted microglia implication. Gene prioritization in the new loci identified 31 genes that were suggestive of new genetically associated processes, including the tumor necrosis factor alpha pathway through the linear ubiquitin chain assembly complex. We also built a new genetic risk score associated with the risk of future AD/dementia or progression from mild cognitive impairment to AD/dementia. The improvement in prediction led to a 1.6- to 1.9-fold increase in AD risk from the lowest to the highest decile, in addition to effects of age and the APOE ε4 allele
Clinical and genetic characteristics of late-onset Huntington's disease
- Author
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- Aaserud O
- Abbruzzese G
- Acera Gil Ma
- Ackermann O
- Adarmes A
- Agarwal V
- Agosti C
- Akhtar S
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- Winkler J
- Winnberg E
- Witjes-Ané Mn
- Witjes-Ané Mn
- Witkowski G
- Witkowski G
- Wiśniewski B
- Wolz A
- Wolz M
- Wood J
- Wood S
- Wright A
- Wright A
- Wright J
- Wójcik M
- Yardumian P
- Yates S
- Youssov K
- Yudina E
- Yudina E
- Zalyalova Z
- Zaremba J
- Zaremba J
- Zaugg Sw
- Zdzienicka E
- Zea Sevilla Ma
- Ziegler C
- Zielonka D
- Zielonka D
- Zielonka E
- Zimmermann Ma
- Zinzi P
- Zinzi P
- Zinzi P
- Ziora-Jakutowicz K
- Zittel S
- Zouitina Y
- Zucker B
- Åman J
- Østern R
- Šašinková P
- Šenkárová Z
- Publication venue
- 'Elsevier BV'
- Publication date
- 01/01/2019
- Field of study
Background: The frequency of late-onset Huntington's disease (>59 years) is assumed to be low and the clinical course milder. However, previous literature on late-onset disease is scarce and inconclusive. Objective: Our aim is to study clinical characteristics of late-onset compared to common-onset HD patients in a large cohort of HD patients from the Registry database. Methods: Participants with late- and common-onset (30\u201350 years)were compared for first clinical symptoms, disease progression, CAG repeat size and family history. Participants with a missing CAG repeat size, a repeat size of 6435 or a UHDRS motor score of 645 were excluded. Results: Of 6007 eligible participants, 687 had late-onset (11.4%) and 3216 (53.5%) common-onset HD. Late-onset (n = 577) had significantly more gait and balance problems as first symptom compared to common-onset (n = 2408) (P <.001). Overall motor and cognitive performance (P <.001) were worse, however only disease motor progression was slower (coefficient, 120.58; SE 0.16; P <.001) compared to the common-onset group. Repeat size was significantly lower in the late-onset (n = 40.8; SD 1.6) compared to common-onset (n = 44.4; SD 2.8) (P <.001). Fewer late-onset patients (n = 451) had a positive family history compared to common-onset (n = 2940) (P <.001). Conclusions: Late-onset patients present more frequently with gait and balance problems as first symptom, and disease progression is not milder compared to common-onset HD patients apart from motor progression. The family history is likely to be negative, which might make diagnosing HD more difficult in this population. However, the balance and gait problems might be helpful in diagnosing HD in elderly patients
Optimization of adsorptive removal of α-toluic acid by CaO2 nanoparticles using response surface methodology
- Author
- 't Hart Ellen P.
- Aaserud Olaf
- Abbruzzese Giovanni
- Aguilar Barbera Miquel
- Albanese Alberto
- Allain Philippe
- Alonso-Frech Fernando
- Andrews Thomasin
- Andrews Thomasin
- Andrich Jürgen
- Antczak Jakub
- Antequera Torres María Martirio
- Arran Natalie
- Azulay Jean-Philippe
- Babiloni Blandine
- Bachoud-Lévi A. C.
- Badenes Guia Dolors
- Banaszkiewicz Krzysztof
- Bandettini di Poggio Monica
- Bandmann Oliver
- Barker Roger A.
- Barnes Kathy
- Barrero Francisco
- Barth Katrin
- Barth Katrin
- Bas Jordi
- Bascuñana Garde Mónica
- Bascuñana Garde Mónica
- Bastida Antonio Martín
- Bate Louise
- Bechtel Natalie
- Beckmann Heike
- Beister Antonie
- Bellonet Marcellin
- Bentivoglio A. R.
- Bentivoglio Anna Rita
- Bertini Elisabetta
- Bisson Jonathan
- Biunno I.
- Björn Yvonne
- Bjørgo Kathrine
- Bjørnevoll Inga
- Blinkenberg Ellen Økland
- Boczarska-Jedynak Magdalena
- Boelmans Kai
- Bohlen Stefan
- Bolwijn J. J. W.
- Bonelli Raphael M.
- Bonelli Raphael M.
- Bonelli Raphael M.
- Boogaerts Andrea
- Borgerød Nancy
- Bos Reineke
- Bos Reineke
- Bosca Maria
- Bourne Colin
- Bradbury Alyson
- Braunwarth Eva-Maria
- Brockie Peter
- Brugger Florian
- Bruno Stefania
- Bryl Anna
- Buck Andrea
- Buongiorno Maria Teresa
- Buratti Lisa
- Burg Sabrina
- Burguera Juan Andrés
- Burgunder J. M.
- Burgunder Jean-Marc
- Burgunder Yvonne
- Burn John
- Burns Peter
- Burrows Liz
- Busquets Núria
- Busse Monica
- Bürk Kathrin
- Callaghan Jenny
- Calopa Matilde
- Calvas Fabienne
- Campos Garcia Anabel
- Cannella Milena
- Capellari Sabrina
- Carette Anne-Sophie
- Carrillo Fátima
- Casas Hernanz Laura
- Catalli Claudio
- Causley Aaron
- Cavaco Sara
- Chabot Christelle
- Chacón Peña José
- Cheriet Samia
- Chu Carol
- Chu Carol
- Chu Elvina
- Ciesielska Anna
- Clapton Jackie
- Clayton Carole
- Clenaghan Catherine
- Codella Valentina
- Coelho Miguel
- Coleman Caroline
- Connemann Julia
- Constantinescu Radu
- Cormio Claudia
- Correia Guedes Leonor
- Correia Guedes Leonor
- Cortelli Pietro
- Costa Cristina
- Craufurd David
- Crooks Jenny
- Cubo Esther
- Curtis Adrienne
- Cáceres María Teresa
- Dalmau Elorza Marina
- Damásio Joana
- de Bruycker Christelle
- de Gregorio Francesca
- de Michele Giuseppe
- de Nicola Nunzia
- de Raedt Sylvie
- de Souza Jenny
- de Tommaso Marina
- de Weert A. Marit
- Debruxelles Sabrina
- Dec Malgorzata
- Decorte Eric
- Dekker M.
- Delliaux Marie
- Delphini Marie
- Delval Arnaud
- di Bella Daniela
- di Donato Stefano
- di Giacopo Raffaella
- di Maio Luigi
- di Maria Emilio
- di Pietro Anna
- Diercks Gabriele
- Difruscolo Olimpia
- Dinca Avarvarei Luminita
- Dipple Heather
- Doherty Karen
- Dose Matthias
- Dougherty Andrew
- Dujardin Kathy
- Dumas Eve M.
- Dunnett S. B.
- Dunnett Stephen B.
- Duru Cécile
- Durán Herrera Carmen
- Durán-Sindreu Terol Santiago
- Démonet Jean-Francois
- Díez-Aja López Cristóbal
- Ecker Daniel
- Ecker Daniel
- Edwards Maureen
- Ekwall Camilla
- Ellison-Rose Lynda
- Eschenbach Carolin
- Esmaeilzadeh Mona
- European Huntington's Disease Network
- Eusebio Alexandre
- Evans Carole
- Fairtlough Helen
- Fannemel Madelein
- Fasano Alfonso
- Fatás Ventura Marta
- Fenollar María
- Fernández Recio Maria
- Ferrandes Giovanna
- Ferreira J. J.
- Ferreira Joaquim J.
- Fillingham Kay
- Finisterra Ana Maria
- Fisher Kate
- Flamez Anja
- Fletcher Amy
- Floriach Robert Misericordia
- Foster Jillian
- Foustanos Isabella
- Fredlund Gunnel
- Frich Jan
- Friedrich Andrea
- Frontali Marina
- Fullam Ruth
- Gago Miguel
- Galitzky Monique
- Gallassi Roberto
- Ganos Christos
- Garcia Moreno José Manuel
- García de Yébenes Justo
- García Ribas Guillermo
- García Ruíz Pedro J.
- García-Ramos García Rocío
- Garrett Carolina
- Garzón Ruíz Belén
- Gaston Itziar
- Gelderblom Harald
- Gellera Cinzia
- Genitrini Silvia
- Ghelli Elena
- Gill Paul
- Ginestroni Andrea
- Giuliano J.
- Gohier Bénédicte
- Goizet Cyril
- Golding Charlotte
- Golding Charlotte
- González Casado Ana
- González González Sonia
- Goodman Anna
- Gorospe Aranzazú
- Gorzolla Heike
- Grant Janet
- Grosjean Hélène
- Gross Diana
- Guerra Maria Rosália
- Guidubaldi Arianna
- Guérid Marie-Anne
- Gøller Marie-Louise
- Gørvell Per
- Hallam Caroline
- Hamer Stephanie
- Hametner Eva-Maria
- Hammer Kathrin
- Handley Olivia J.
- Handley Olivia J.
- Handley Olivia J.
- Handley Olivia J.
- Harding Alison
- Haro Martínez Isabel
- Harrison David
- Harrower Timothy
- Hasholt Lis
- Hauge Erik
- Hayward Beverley
- Hecht Karen
- Heiberg Arvid
- Heiberg Arvid
- Heinicke Walburgis
- Held Christine
- Held Christine
- Henley Susie
- Hepperger Caroline
- Herranhof Brigitte
- Hidding Ute
- Hiivola Heli
- Hill Susan
- Hjermind Lena E.
- Hobson Emma
- Hoffmann Rainer
- Holas Christiane
- Holl Anna
- Hotter Anna
- Howard Liz
- Howcroft Debbie
- Hughes Max
- Hughes Teresa
- Hunger Ulrike
- Hunt Sarah
- Huson Susan
- Hussl Anna
- Höglund Arja
- Hölzner Eva
- Høsterey-Ugander Ulrika
- Ialongo Tamara
- Ignatius Jaakko
- Illmann T.
- Illmann T.
- Jachinska Katarzyna
- Jack Roisin
- Jacopini Gioia
- Jakobsen Oda
- Jamieson Stuart
- Jamrozik Zygmunt
- Janik Piotr
- Januário Cristina
- Jasinska-Myga Barbara
- Johansson Anders
- Johns Nicola
- Jurgens Caroline K.
- Júlio Filipa
- Kaelin Alain
- Kalbarczyk Anna
- Kapfhammer Hans-Peter
- Kavalier Fred
- Kershaw Ann
- Kieni Janina
- Klempí Jirí
- Klimberg Aneta
- Klodowska-Duda Gabriela
- Koppers Kerstin
- Koppitz Michael
- Kosinski Christoph Michael
- Kraus Peter H.
- Krawczyk Malgorzata
- Kremer Berry
- Krysa Wioletta
- Krystkowiak Pierre
- Kucharík Martin
- Kwiecinski Hubert
- Kärppä Mikko
- Ladurner Gunther
- Lafoucrière Danielle
- Lahiri Nayana
- Lama Suarez María José
- Lambeck Johann
- Lambord Nicol
- Landwehrmeyer Bernhard Georg
- Landwehrmeyer G. Bernhard
- Landwehrmeyer G. Bernhard
- Lange Herwig
- Lange Herwig
- Lashwood Alison
- Laurà Mathilde
- Laver Fiona
- Leenders K. L.
- Legarda Inés
- Levey J.
- Lewerenz Jan
- Leythaeuser Gabriele
- Lezius Franziska
- Lilek Sabine
- Lilek Stefan
- Longinus Bernhard
- Lorenza Fortuna
- Loria Giovanna
- Loutfi Ghada
- López Catena Judit
- López del Val Javier
- López-Sendón Moreno José Luis
- Löhle Matthias
- Magalhães Marina
- Magnet Markus
- Mahlknecht Philipp
- Mair Katharina
- Majeed Tahir
- Mandich Paola
- Marchese Roberta
- Marcinkowski Jerzy T.
- Mareca Viladrich Celia
- Mariotti Caterina
- Mariscal Natividad
- Markova Ivana
- Markova Ivana
- Marquard Ralf
- Martikainen Kirsti
- Martino Tiziana
- Martínez Martinez Laura
- Martínez-Descals Asunción
- Martínez-Descals Asunción
- Mason Sarah
- Massaro Francesca
- Matheson Kirsty
- McGill Marie
- McKenzie Sue
- McLean Tim
- Mechi Claudia
- Mendes Tiago
- Menéndez Guisasola Luis
- Mestre Tiago
- Mestre Tiago
- Middleton Julia
- Miedzybrodzka Zosia
- Milkereit Eva
- Miller Joanne
- Miller Julie
- Minster Sara
- Mir Pablo
- Modoni Anna
- Monza Daniela
- Monza Daniela
- Morales Blas
- Moreno Garcia Patrocinio
- Morez V.
- Mundler Laura
- Murch Ann
- Muth Sabine
- Muñoz Esteban
- Möller Jens Carsten
- Müller Nicole
- Münchau Alexander
- Nanetti Lorenzo
- Navas Arques Penelope
- Neleborn-Lingefjärd Liselotte
- Nemeth Andrea H.
- Nepper Solveig
- Nielsen J. E.
- Nielsen Jørgen
- Niess Anke
- Nocker Michael
- Noguera Perea María Fuensanta
- Novak Marianne
- Nowak Marielle
- Nørremølle Anne
- O'Donovan Kirsty
- Olivier Audrey
- Olofsson Carina
- Opala Gregorz
- Orth Michael
- Orth Michael
- Orth Michael
- Orth Michael
- Orth Michael
- Otti Daniela
- Oughton Emma
- Overland Torborg
- Padieu Helene
- Paganini Marco
- Painold Annamaria
- Paridi Dominga
- Parkinson Andrew
- Partington-Jones Lucy
- Pate Louise
- Patel Aakta
- Paterski Laurent
- Paterson Nicole
- Patino Dawn
- Patton Michael
- Paucar Martin
- Pearson Pauline
- Peinemann Alexander
- Peippo Maarit
- Peppa Nadia
- Peppa Nadia
- Peter Mireille
- Petersen Asa
- Peterson Maria
- Piacentini Silvia
- Piano Carla
- Piccininni Chiara
- Pin Quiroga Purificacion
- Plomhouse Lucie
- Poda Roberto
- Poewe Werner
- Pons i Càrdenas Regina
- Porteous Mary
- Pradella Silvia
- Prehn Christian
- Price Kathleen
- Priller Josef
- Pro Koivisto Susana
- Pro Koivisto Susana
- Probst Daniela
- Prundean Adriana
- Prüss Harald
- Päivärinta M.
- Pålhagen Sven E.
- Quaranta Davide
- Quarrell Oliver
- Quiléz Ferrer Pilar
- Raab Tina
- Rabasa Perez Maria
- Rae Daniela
- Rakowicz Maria
- Raman Ashok
- Ramos-Arroyo Maria A.
- Rankin Julia
- Raymond Lucy
- Read Joy
- Redondo Vergé Luis
- Reilmann Ralf
- Reimer Jan
- Reinante Gema
- Reisinger Karin
- Retterstøl Lars
- Reza-Soltani Tina Walldén
- Rialland Amandine
- Ribaï Pascale
- Ribbat Michael
- Richter Przemyslaw
- Richter Sven
- Rickards Hugh
- Rinaldi Carlo
- Rissling Ida
- Ritchie Stuart
- Rizzo Giovanni
- Robertson Dene
- Roca Elvira
- Rohm Stefanie
- Roig Llesoy Joan
- Rojo Sebastián Ana
- Romano Silvia
- Romero Irene
- Romoli Anna Maria
- Roos R. A.
- Roos Raymund A.
- Rose Sarah
- Rosser Anne
- Rosser Elisabeth
- Roth Jan
- Rothery Jean
- Roussel Martine
- Ruddy Deborah
- Rudolf Gabrielle
- Rudzinska Monika
- Rumpf Silke
- Russo Cinzia Valeria
- Ruíz Idiago Jesús Miguel
- Ruíz Vergara Mar
- Ryglewicz Danuta
- Røren Ninni
- Saft Carsten
- Saiz Artiga María José
- Salmen Stephan
- Salvador Carlos
- Salvatore Elena
- Samara Husam
- Sanchez Jesús
- Sando Sigrid Botne
- Sandström Britta
- Santala Maire
- Sasinková Pavla
- Sass Christian
- Say Miranda
- Scaglione Cesa
- Scheibl Monika
- Schepers Sigrun
- Scherer-Gagou Clarisse* Gagou, Clarisse Scherer-
- Schiefer Johannes
- Schlangen Christiane
- Schmalfeld Jenny
- Schmidt Simone
- Schrader Christoph
- Schrenk Caroline
- Schuierer Michele
- Schwenke C.
- Schwenke Carsten
- Schöggl Helmut
- Schüpbach Michael
- Sciruicchio Vittorio
- Sebastián A. R.
- Selimbegovic-Turkovic Amina
- Sempolowicz Justyna
- Senkárová Zuzana
- Seppi Klaus
- Serpino Claudia
- Sieradzan Kasia
- Silva Mark
- Simonelli Maria
- Simonin Clémence
- Simpson Sheila
- Sinadinosa Daniela
- Sipponen Marjatta
- Sitek Emilia
- Siuda Gill
- Slawek Jaroslaw
- Smith Paul
- Snowden Julie
- Soleti Francesco
- Solis Pilar
- Soliveri Paola
- Sollom Andrea
- Soltan Witold
- Soltani Riza
- Soltysiak Beverley
- Sorbi Sandro
- Soriano García Socorro
- Spadaro Maria
- Spruth Eike Jakob
- Squitieri Ferdinando
- Staffen Wolfgang
- Stamm Christiane
- Stattin Eva-Lena
- Stebler Yanik
- Steiner Tanja
- Steinmetz Gisèle
- Stokholm Jette
- Stokke Bodil
- Stopford Cheryl
- Storch Alexander
- Strassburger Katrin
- Stubbe Lars
- Städtler Michael
- Suaréz San Martín Esther
- Sulek Anna
- Summers Fiona
- Svenningsson Per
- Szczudlik Andrzej
- Sánchez Sánchez Violeta
- Sánchez Vicenta
- Sørensen Sven Asger
- Süßmuth Sigurd
- Tabrizi S. J.
- Tabrizi Sarah
- Tabrizi Sarah
- Taylor Rachel
- Tedroff Joakim
- Thibault-Tanchou Stéphanie
- Thomas Gareth
- Thompson Jennifer
- Thomson Aileen
- Thomson Jenny
- Tidswell Katherine
- Timóteo Angela
- Tomasello Chiara
- Tome Carruesco Gemma
- Torres Rodríguez María José
- Toscano Jean
- Townhill Jenny
- Townhill Jenny
- Tranchant Christine
- Trautmann Sonja
- Trender-Gerhad Iris
- Trigo Cubillo Patricia
- Trigo Cubillo Patricia
- Tritsch Christine
- Tucci Tecla
- Tuuha Katri
- Tyvoll Hilde
- Uhrova T.
- Ullah Jasmin
- Ure Alexandra
- Valadas Anabela
- Vale José
- van den Bogaard Simon J. A.
- van Hout Monique S.
- van Kammen D.
- van Oostrom J. C. H.
- van Reijen Dimphna
- van Vugt Jeroen P.
- van Walsem Marleen R.
- van Walsem Marlene R.
- Vandenberghe Wim
- Vandenberghe Wim
- Verellen-Dumoulin Christine
- Verellen-Dumoulin Christine
- Verny Christophe
- Verstappen C. C. P.
- Verstraelen Nichola
- Verstraelen Nichola
- Villa Riballo Antonio
- Villanueva Clara
- Vivancos Moreau Laura
- Vives Barbara
- Vázquez Rivera Susana
- Wagner Caroline
- Wahlström J.
- Wahlström Jan
- Walleczek Anna Maria
- Wallner M.
- Wannepain Sandrine
- Warner Thomas
- Weber Zaugg Sabine
- Wehus Raghild
- Weindl Adolf
- Wenning Gregor
- Werner Cornelius Johannes
- Westman Laila
- Westmoreland Leann
- Weydt Patrick
- Whaite Anna
- Widner Hakan
- Wiedemann Alexandra
- Wiklund Leif
- Wikström Birgitta
- Wild E. J.
- Wild Edward
- Wild Sue
- Winnberg Elisabeth
- Witjes-Ané Marie-Noelle
- Witjes-Ané Marie-Noelle
- Witkowski Grzegorz
- Wolf Elisabeth
- Wolz Annett
- Wolz Martin
- Wright Abigail
- Wright Jan
- Wójcik Magdalena
- Yardumian Pam
- Yates Shona
- Yudina Elizaveta
- Zangerl Anja
- Zaremba J.
- Zaremba Jacek
- Zdzienicka Elzbieta
- Zeman Adam
- Zielonka Daniel
- Zielonka Daniel
- Zielonka Eugeniusz
- Zimmermann Marie-Agathe
- Zinzi Paola
- Zinzi Paola
- Zittel Simone
- Zucker Birgit
- Åman Jaana
- Publication venue
- Elsevier
- Publication date
- 01/01/2011
- Field of study
The present work addresses the optimization of process parameters for adsorptive removal of α-toluic acid by calcium peroxide (CaO2) nanoparticles using response surface methodology (RSM). CaO2 nanoparticles were synthesized by chemical precipitation method and confirmed by Transmission electron microscopy (TEM) and high-resolution TEM (HRTEM) analysis which shows the CaO2 nanoparticles size range of 5–15 nm. A series of batch adsorption experiments were performed using CaO2 nanoparticles to remove α-toluic acid from the aqueous solution. Further, an experimental based central composite design (CCD) was developed to study the interactive effect of CaO2 adsorbent dosage, initial concentration of α-toluic acid, and contact time on α-toluic acid removal efficiency (response) and optimization of the process. Analysis of variance (ANOVA) was performed to determine the significance of the individual and the interactive effects of variables on the response. The model predicted response showed a good agreement with the experimental response, and the coefficient of determination, (R2) was 0.92. Among the variables, the interactive effect of adsorbent dosage and the initial α-toluic acid concentration was found to have more influence on the response than the contact time. Numerical optimization of process by RSM showed the optimal adsorbent dosage, initial concentration of α-toluic acid, and contact time as 0.03 g, 7.06 g/L, and 34 min respectively. The predicted removal efficiency was 99.50%. The experiments performed under these conditions showed α-toluic acid removal efficiency up to 98.05%, which confirmed the adequacy of the model prediction