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Lysosomal storage disorder gene variants in multiple system atrophy.
Published in:
2018
By:
- Pihlstrøm, Lasse;
- Schottlaender, Lucia;
- Chelban, Viorica;
- Meissner, Wassilios G.;
- Federoff, Monica;
- Singleton, Andy;
- Houlden, Henry;
- MSA Exome Consortium
Publication type:
Letter
Genetic and phenotypic characterization of complex hereditary spastic paraplegia.
Published in:
2016
By:
- Kara, Eleanna;
- Tucci, Arianna;
- Manzoni, Claudia;
- Lynch, David S.;
- Elpidorou, Marilena;
- Bettencourt, Conceicao;
- Chelban, Viorica;
- Manole, Andreea;
- Hamed, Sherifa A.;
- Haridy, Nourelhoda A.;
- Federoff, Monica;
- Preza, Elisavet;
- Hughes, Deborah;
- Pittman, Alan;
- Jaunmuktane, Zane;
- Brandner, Sebastian;
- Xiromerisiou, Georgia;
- Wiethoff, Sarah;
- Schottlaender, Lucia;
- Proukakis, Christos
Publication type:
journal article
Genome-wide association study reveals genetic risk underlying Parkinson's disease.
Published in:
Nature Genetics, 2009, v. 41, n. 12, p. 1308, doi. 10.1038/ng.487
By:
- Simón-Sánchez, Javier;
- Schulte, Claudia;
- Bras, Jose M.;
- Sharma, Manu;
- Gibbs, J. Raphael;
- Berg, Daniela;
- Paisan-Ruiz, Coro;
- Lichtner, Peter;
- Scholz, Sonja W.;
- Hernandez, Dena G.;
- Krüger, Rejko;
- Federoff, Monica;
- Klein, Christine;
- Goate, Alison;
- Perlmutter, Joel;
- Bonin, Michael;
- Nalls, Michael A.;
- Illig, Thomas;
- Gieger, Christian;
- Houlden, Henry
Publication type:
Article
Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia.
Published in:
2017
By:
- Bettencourt, Conceição;
- Salpietro, Vincenzo;
- Efthymiou, Stephanie;
- Chelban, Viorica;
- Hughes, Deborah;
- Pittman, Alan M.;
- Federoff, Monica;
- Bourinaris, Thomas;
- Spilioti, Martha;
- Deretzi, Georgia;
- Kalantzakou, Triantafyllia;
- Houlden, Henry;
- Singleton, Andrew B.;
- Xiromerisiou, Georgia
Publication type:
journal article
Multiple system atrophy: the application of genetics in understanding etiology.
Published in:
Clinical Autonomic Research, 2015, v. 25, n. 1, p. 19, doi. 10.1007/s10286-014-0267-5
By:
- Federoff, Monica;
- Schottlaender, Lucia;
- Houlden, Henry;
- Singleton, Andrew
Publication type:
Article
SORL1 mutation in a Greek family with Parkinson's disease and dementia.
Published in:
Annals of Clinical & Translational Neurology, 2021, v. 8, n. 10, p. 1961, doi. 10.1002/acn3.51433
By:
- Xiromerisiou, Georgia;
- Bourinaris, Thomas;
- Houlden, Henry;
- Lewis, Patrick A.;
- Senkevich, Konstantin;
- Hammer, Monia;
- Federoff, Monica;
- Khan, Alaa;
- Spanaki, Cleanthe;
- Hadjigeorgiou, Georgios M.;
- Bonstanjopoulou, Sevasti;
- Fidani, Liana;
- Ermolaev, Aleksey;
- Gan‐Or, Ziv;
- Singleton, Andrew;
- Vandrovcova, Jana;
- Hardy, John
Publication type:
Article
Exploring dementia and neuronal ceroid lipofuscinosis genes in 100 FTD-like patients from 6 towns and rural villages on the Adriatic Sea cost of Apulia.
Published in:
Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-85494-x
By:
- Sassi, Celeste;
- Capozzo, Rosa;
- Hammer, Monia;
- Zecca, Chiara;
- Federoff, Monica;
- Blauwendraat, Cornelis;
- Bernstein, Nick;
- Ding, Jinhui;
- Gibbs, J. Raphael;
- Price, Timothy;
- Singleton, Andrew;
- Logroscino, Giancarlo
Publication type:
Article
Lack of replication of association between GIGYF2 variants and Parkinson disease.
Published in:
Human Molecular Genetics, 2009, v. 18, n. 2, p. 341
By:
- Bras, Jose;
- Simón-Sánchez, Javier;
- Federoff, Monica;
- Morgadinho, Ana;
- Januario, Cristina;
- Ribeiro, Maria;
- Cunha, Luis;
- Oliveira, Catarina;
- Singleton, Andrew B.
Publication type:
Article
ADORA1 mutations are not a common cause of Parkinson's disease and dementia with Lewy bodies.
Published in:
2017
By:
- Blauwendraat, Cornelis;
- Nalls, Mike A.;
- Federoff, Monica;
- Pletnikova, Olga;
- Ding, Jinhui;
- Letson, Christopher;
- Geiger, Joshua T.;
- Gibbs, J. Raphael;
- Hernandez, Dena G.;
- Troncoso, Juan C.;
- Simón‐Sánchez, Javier;
- Scholz, Sonja W.;
- Simón-Sánchez, Javier;
- International Parkinson's Disease Genomics Consortium
Publication type:
Letter
Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations.
Published in:
Movement Disorders, 2010, v. 25, n. 12, p. 1791, doi. 10.1002/mds.23221
By:
- Paisán-Ruiz, Coro;
- Guevara, Rocio;
- Federoff, Monica;
- Hanagasi, Hasmet;
- Sina, Fardaz;
- Elahi, Elahe;
- Schneider, Susanne A.;
- Schwingenschuh, Petra;
- Bajaj, Nin;
- Emre, Murat;
- Singleton, Andrew B.;
- Hardy, John;
- Bhatia, Kailash P.;
- Brandner, Sebastian;
- Lees, Andrew J.;
- Houlden, Henry
Publication type:
Article
Correction of depression‐associated circadian rhythm abnormalities is associated with lithium response in bipolar disorder.
Published in:
Bipolar Disorders, 2022, v. 24, n. 5, p. 521, doi. 10.1111/bdi.13162
By:
- Federoff, Monica;
- McCarthy, Michael J.;
- Anand, Amit;
- Berrettini, Wade H.;
- Bertram, Holli;
- Bhattacharjee, Abesh;
- Calkin, Cynthia V.;
- Conroy, Carla;
- Coryell, William H.;
- D'Arcangelo, Nicole;
- DeModena, Anna;
- Fisher, Carrie;
- Feeder, Scott;
- Frazier, Nicole;
- Frye, Mark A.;
- Gao, Keming;
- Garnham, Julie;
- Gershon, Elliot S.;
- Alliey‐Rodriguez, Ney;
- Glazer, Kara
Publication type:
Article
Sleep and circadian rhythm disruption is corrected by lithium in a case of bipolar disorder with familial BRCA1 mutation.
Published in:
Bipolar Disorders, 2021, v. 23, n. 1, p. 101, doi. 10.1111/bdi.13014
By:
- Federoff, Monica;
- McCarthy, Michael J.
Publication type:
Article

Found: 12