Search | VHL CLAP/WR-PAHO/WHO

1.

SnapShot: Genetics of ALS and FTD.

Guerreiro, Rita; Brás, José; Hardy, John.

Cell ; 160(4): 798-798.e1, 2015 Feb 12.

Article in English | MEDLINE | ID: mdl-25679767

2.

SnapShot: Genetics of Parkinson's disease.

Brás, José; Guerreiro, Rita; Hardy, John.

Cell ; 160(3): 570-570.e1, 2015 Jan 29.

Article in English | MEDLINE | ID: mdl-25635463

3.

In situ proximity labeling identifies Lewy pathology molecular interactions in the human brain.

Killinger, Bryan A; Marshall, Lee L; Chatterjee, Diptaman; Chu, Yaping; Bras, Jose; Guerreiro, Rita; Kordower, Jeffrey H.

Proc Natl Acad Sci U S A ; 119(5)2022 02 01.

Article in English | MEDLINE | ID: mdl-35082147

4.

Lysosomal polygenic risk is associated with the severity of neuropathology in Lewy body disease.

Tunold, Jon-Anders; Tan, Manuela M X; Koga, Shunsuke; Geut, Hanneke; Rozemuller, Annemieke J M; Valentino, Rebecca; Sekiya, Hiroaki; Martin, Nicholas B; Heckman, Michael G; Bras, Jose; Guerreiro, Rita; Dickson, Dennis W; Toft, Mathias; van de Berg, Wilma D J; Ross, Owen A; Pihlstrøm, Lasse.

Brain ; 146(10): 4077-4087, 2023 10 03.

Article in English | MEDLINE | ID: mdl-37247383

5.

Prion-like α-synuclein pathology in the brain of infants with Krabbe disease.

Hatton, Christopher; Ghanem, Simona S; Koss, David J; Abdi, Ilham Y; Gibbons, Elizabeth; Guerreiro, Rita; Bras, Jose; Walker, Lauren; Gelpi, Ellen; Heywood, Wendy; Outeiro, Tiago F; Attems, Johannes; McFarland, Robert; Forsyth, Rob; El-Agnaf, Omar M; Erskine, Daniel.

Brain ; 145(4): 1257-1263, 2022 05 24.

Article in English | MEDLINE | ID: mdl-34999780

6.

SnapShot: genetics of Alzheimer's disease.

Guerreiro, Rita; Brás, José; Hardy, John.

Cell ; 155(4): 968-968.e1, 2013 Nov 07.

Article in English | MEDLINE | ID: mdl-24209629

7.

Whole-exome sequencing reveals PSEN1 and ATP7B combined variants as a possible cause of early-onset Lewy body dementia: a case study of genotype-phenotype correlation.

Tábuas-Pereira, Miguel; Guerreiro, Rita; Kun-Rodrigues, Célia; Almeida, Maria Rosário; Brás, José; Santana, Isabel.

Neurogenetics ; 23(4): 279-283, 2022 10.

Article in English | MEDLINE | ID: mdl-36114914

8.

MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia.

Reid, Kimberley M; Spaull, Robert; Salian, Smrithi; Barwick, Katy; Meyer, Esther; Zhen, Juan; Hirata, Hiromi; Sheipouri, Diba; Benkerroum, Hind; Gorman, Kathleen M; Papandreou, Apostolos; Simpson, Michael A; Hirano, Yoshinobu; Farabella, Irene; Topf, Maya; Grozeva, Detelina; Carss, Keren; Smith, Martin; Pall, Hardev; Lunt, Peter; De Gressi, Susanna; Kamsteeg, Erik-Jan; Haack, Tobias B; Carr, Lucinda; Guerreiro, Rita; Bras, Jose; Maher, Eamonn R; Scott, Richard H; Vandenberg, Robert J; Raymond, F Lucy; Chong, Wui K; Sudhakar, Sniya; Mankad, Kshitij; Reith, Maarten E; Campeau, Philippe M; Harvey, Robert J; Kurian, Manju A.

Mov Disord ; 37(10): 2139-2146, 2022 10.

Article in English | MEDLINE | ID: mdl-35876425

9.

A comprehensive analysis of copy number variation in a Turkish dementia cohort.

Dehghani, Nadia; Guven, Gamze; Kun-Rodrigues, Celia; Gouveia, Catarina; Foster, Kalina; Hanagasi, Hasmet; Lohmann, Ebba; Samanci, Bedia; Gurvit, Hakan; Bilgic, Basar; Bras, Jose; Guerreiro, Rita.

Hum Genomics ; 15(1): 48, 2021 07 28.

Article in English | MEDLINE | ID: mdl-34321086

10.

Rare variants in TP73 in a frontotemporal dementia cohort link this gene with primary progressive aphasia phenotypes.

Tábuas-Pereira, Miguel; Santana, Isabel; Almeida, Maria Rosário; Durães, João; Lima, Marisa; Duro, Diana; Kun-Rodrigues, Célia; Bras, Jose; Guerreiro, Rita.

Eur J Neurol ; 29(5): 1524-1528, 2022 05.

Article in English | MEDLINE | ID: mdl-35020242

11.

Genetic analysis reveals novel variants for vascular cognitive impairment.

Mönkäre, Saana; Kuuluvainen, Liina; Schleutker, Johanna; Bras, Jose; Roine, Susanna; Pöyhönen, Minna; Guerreiro, Rita; Myllykangas, Liisa.

Acta Neurol Scand ; 146(1): 42-50, 2022 Jul.

Article in English | MEDLINE | ID: mdl-35307828

12.

How understudied populations have contributed to our understanding of Alzheimer's disease genetics.

Dehghani, Nadia; Bras, Jose; Guerreiro, Rita.

Brain ; 144(4): 1067-1081, 2021 05 07.

Article in English | MEDLINE | ID: mdl-33889936

13.

Congenital ataxia due to novel variant in ATP8A2.

Damásio, Joana; Santos, Diana; Morais, Sara; Brás, José; Guerreiro, Rita; Sardoeira, Ana; Cavaco, Sara; Carrilho, Inês; Barbot, Clara; Barros, José; Sequeiros, Jorge.

Clin Genet ; 100(1): 79-83, 2021 07.

Article in English | MEDLINE | ID: mdl-33682124

14.

Genetics of synucleins in neurodegenerative diseases.

Brás, José; Gibbons, Elizabeth; Guerreiro, Rita.

Acta Neuropathol ; 141(4): 471-490, 2021 04.

Article in English | MEDLINE | ID: mdl-32740728

15.

A rare loss-of-function variant of ADAM17 is associated with late-onset familial Alzheimer disease.

Hartl, Daniela; May, Patrick; Gu, Wei; Mayhaus, Manuel; Pichler, Sabrina; Spaniol, Christian; Glaab, Enrico; Bobbili, Dheeraj Reddy; Antony, Paul; Koegelsberger, Sandra; Kurz, Alexander; Grimmer, Timo; Morgan, Kevin; Vardarajan, Badri N; Reitz, Christiane; Hardy, John; Bras, Jose; Guerreiro, Rita; Balling, Rudi; Schneider, Jochen G; Riemenschneider, Matthias.

Mol Psychiatry ; 25(3): 629-639, 2020 03.

Article in English | MEDLINE | ID: mdl-29988083

16.

Genetic architecture of common non-Alzheimer's disease dementias.

Guerreiro, Rita; Gibbons, Elizabeth; Tábuas-Pereira, Miguel; Kun-Rodrigues, Celia; Santo, Gustavo C; Bras, Jose.

Neurobiol Dis ; 142: 104946, 2020 08.

Article in English | MEDLINE | ID: mdl-32439597

17.

Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease.

Cruchaga, Carlos; Karch, Celeste M; Jin, Sheng Chih; Benitez, Bruno A; Cai, Yefei; Guerreiro, Rita; Harari, Oscar; Norton, Joanne; Budde, John; Bertelsen, Sarah; Jeng, Amanda T; Cooper, Breanna; Skorupa, Tara; Carrell, David; Levitch, Denise; Hsu, Simon; Choi, Jiyoon; Ryten, Mina; Sassi, Celeste; Bras, Jose; Gibbs, Raphael J; Hernandez, Dena G; Lupton, Michelle K; Powell, John; Forabosco, Paola; Ridge, Perry G; Corcoran, Christopher D; Tschanz, JoAnn T; Norton, Maria C; Munger, Ronald G; Schmutz, Cameron; Leary, Maegan; Demirci, F Yesim; Bamne, Mikhil N; Wang, Xingbin; Lopez, Oscar L; Ganguli, Mary; Medway, Christopher; Turton, James; Lord, Jenny; Braae, Anne; Barber, Imelda; Brown, Kristelle; Pastor, Pau; Lorenzo-Betancor, Oswaldo; Brkanac, Zoran; Scott, Erick; Topol, Eric; Morgan, Kevin; Rogaeva, Ekaterina.

Nature ; 505(7484): 550-554, 2014 Jan 23.

Article in English | MEDLINE | ID: mdl-24336208

18.

A novel human pain insensitivity disorder caused by a point mutation in ZFHX2.

Habib, Abdella M; Matsuyama, Ayako; Okorokov, Andrei L; Santana-Varela, Sonia; Bras, Jose T; Aloisi, Anna Maria; Emery, Edward C; Bogdanov, Yury D; Follenfant, Maryne; Gossage, Sam J; Gras, Mathilde; Humphrey, Jack; Kolesnikov, Anna; Le Cann, Kim; Li, Shengnan; Minett, Michael S; Pereira, Vanessa; Ponsolles, Clara; Sikandar, Shafaq; Torres, Jesus M; Yamaoka, Kenji; Zhao, Jing; Komine, Yuriko; Yamamori, Tetsuo; Maniatis, Nikolas; Panov, Konstantin I; Houlden, Henry; Ramirez, Juan D; Bennett, David L H; Marsili, Letizia; Bachiocco, Valeria; Wood, John N; Cox, James J.

Brain ; 141(2): 365-376, 2018 02 01.

Article in English | MEDLINE | ID: mdl-29253101

19.

Microdeletion in a FAAH pseudogene identified in a patient with high anandamide concentrations and pain insensitivity.

Habib, Abdella M; Okorokov, Andrei L; Hill, Matthew N; Bras, Jose T; Lee, Man-Cheung; Li, Shengnan; Gossage, Samuel J; van Drimmelen, Marie; Morena, Maria; Houlden, Henry; Ramirez, Juan D; Bennett, David L H; Srivastava, Devjit; Cox, James J.

Br J Anaesth ; 123(2): e249-e253, 2019 Aug.

Article in English | MEDLINE | ID: mdl-30929760

20.

Additional rare variant analysis in Parkinson's disease cases with and without known pathogenic mutations: evidence for oligogenic inheritance.

Lubbe, Steven J; Escott-Price, Valentina; Gibbs, J Raphael; Nalls, Mike A; Bras, Jose; Price, T Ryan; Nicolas, Aude; Jansen, Iris E; Mok, Kin Y; Pittman, Alan M; Tomkins, James E; Lewis, Patrick A; Noyce, Alastair J; Lesage, Suzanne; Sharma, Manu; Schiff, Elena R; Levine, Adam P; Brice, Alexis; Gasser, Thomas; Hardy, John; Heutink, Peter; Wood, Nicholas W; Singleton, Andrew B; Williams, Nigel M; Morris, Huw R.

Hum Mol Genet ; 25(24): 5483-5489, 2016 12 15.

Article in English | MEDLINE | ID: mdl-27798102

VHL CLAP/WR-PAHO/WHO

Latin-American Center for Perinatology, Woman and Reproductive Health

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