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Variants in ATP5F1B are associated with dominantly inherited dystonia.
Published in:
Brain: A Journal of Neurology, 2023, v. 146, n. 7, p. 2730, doi. 10.1093/brain/awad068
By:
- Nasca, Alessia;
- Mencacci, Niccolò E;
- Invernizzi, Federica;
- Zech, Michael;
- Sarmiento, Ignacio J Keller;
- Legati, Andrea;
- Frascarelli, Chiara;
- Bustos, Bernabe I;
- Romito, Luigi M;
- Krainc, Dimitri;
- Winkelmann, Juliane;
- Carecchio, Miryam;
- Nardocci, Nardo;
- Zorzi, Giovanna;
- Prokisch, Holger;
- Lubbe, Steven J;
- Garavaglia, Barbara;
- Ghezzi, Daniele
Publication type:
Article
Genome-wide contribution of common short-tandem repeats to Parkinson's disease genetic risk.
Published in:
2023
By:
- Bustos, Bernabe I;
- Billingsley, Kimberley;
- Blauwendraat, Cornelis;
- Gibbs, J Raphael;
- Gan-Or, Ziv;
- Krainc, Dimitri;
- Singleton, Andrew B;
- Lubbe, Steven J;
- (IPDGC), International Parkinson's Disease Genomics Consortium;
- International Parkinson’s Disease Genomics Consortium (IPDGC)
Publication type:
journal article
Dyshomeostatic modulation of Ca<sup>2+</sup>- activated K<sup>+</sup> channels in a human neuronal model of KCNQ2 encephalopathy.
Published in:
eLife, 2021, p. 1, doi. 10.7554/eLife.64434
By:
- Simkin, Dina;
- Marshall, Kelly A.;
- Vanoye, Carlos G.;
- Desai, Reshma R.;
- Bustos, Bernabe I.;
- Piyevsky, Brandon N.;
- Ortega, Juan A.;
- Forrest, Marc;
- Robertson, Gabriella L.;
- Penzes, Peter;
- Laux, Linda C.;
- Lubbe, Steven J.;
- Millichap, John J.;
- George Jr, Alfred L.;
- Kiskinis, Evangelos
Publication type:
Article
Overrepresentation of Glutamate Signaling in Alzheimer's Disease: Network-Based Pathway Enrichment Using Meta-Analysis of Genome-Wide Association Studies.
Published in:
PLoS ONE, 2014, v. 9, n. 4, p. 1, doi. 10.1371/journal.pone.0095413
By:
- Pérez-Palma, Eduardo;
- Bustos, Bernabé I.;
- Villamán, Camilo F.;
- Alarcón, Marcelo A.;
- Avila, Miguel E.;
- Ugarte, Giorgia D.;
- Reyes, Ariel E.;
- Opazo, Carlos;
- De Ferrari, Giancarlo V.
Publication type:
Article
Author Correction: The IPDGC/GP2 Hackathon - an open science event for training in data science, genomics, and collaboration using Parkinson's disease data.
Published in:
2023
By:
- Leonard, Hampton L.;
- Murtadha, Ruqaya;
- Martinez-Carrasco, Alejandro;
- Jama, Alina;
- Müller-Nedebock, Amica Corda;
- Gil-Martinez, Ana-Luisa;
- Illarionova, Anastasia;
- Moore, Anni;
- Bustos, Bernabe I.;
- Jadhav, Bharati;
- Huxford, Brook;
- Storm, Catherine;
- Towns, Clodagh;
- Vitale, Dan;
- Chetty, Devina;
- Yu, Eric;
- Grenn, Francis P.;
- Salazar, Gabriela;
- Rateau, Geoffrey;
- Iwaki, Hirotaka
Publication type:
Correction Notice
The IPDGC/GP2 Hackathon - an open science event for training in data science, genomics, and collaboration using Parkinson's disease data.
Published in:
NPJ Parkinson's Disease, 2023, v. 9, n. 1, p. 1, doi. 10.1038/s41531-023-00472-6
By:
- Leonard, Hampton L.;
- Murtadha, Ruqaya;
- Martinez-Carrasco, Alejandro;
- Jama, Alina;
- Müller-Nedebock, Amica Corda;
- Gil-Martinez, Ana-Luisa;
- Illarionova, Anastasia;
- Moore, Anni;
- Bustos, Bernabe I.;
- Jadhav, Bharati;
- Huxford, Brook;
- Storm, Catherine;
- Towns, Clodagh;
- Vitale, Dan;
- Chetty, Devina;
- Yu, Eric;
- Grenn, Francis P.;
- Salazar, Gabriela;
- Rateau, Geoffrey;
- Iwaki, Hirotaka
Publication type:
Article
MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia.
Published in:
Annals of Neurology, 2021, v. 89, n. 4, p. 828, doi. 10.1002/ana.26019
By:
- Meng, Linyan;
- Isohanni, Pirjo;
- Shao, Yunru;
- Graham, Brett H.;
- Hickey, Scott E.;
- Brooks, Stephanie;
- Suomalainen, Anu;
- Joset, Pascal;
- Steindl, Katharina;
- Rauch, Anita;
- Hackenberg, Annette;
- High, Frances A.;
- Armstrong‐Javors, Amy;
- Mencacci, Niccolò E.;
- Gonzàlez‐Latapi, Paulina;
- Kamel, Walaa A.;
- Al‐Hashel, Jasem Y.;
- Bustos, Bernabé I.;
- Hernandez, Alejandro V.;
- Krainc, Dimitri
Publication type:
Article
Assessing the relationship between monoallelic PRKN mutations and Parkinson's risk.
Published in:
Human Molecular Genetics, 2021, v. 30, n. 1, p. 78, doi. 10.1093/hmg/ddaa273
By:
- Lubbe, Steven J;
- Bustos, Bernabe I;
- Hu, Jing;
- Krainc, Dimitri;
- Joseph, Theresita;
- Hehir, Jason;
- Tan, Manuela;
- Zhang, Weijia;
- Escott-Price, Valentina;
- Williams, Nigel M;
- Blauwendraat, Cornelis;
- Singleton, Andrew B;
- Morris, Huw R;
- (IPDGC), for International Parkinson's Disease Genomics Consortium
Publication type:
Article
Assessing the Occurrence and Influence of Cancer Chemotherapy-Related Pharmacogenetic Alleles in the Chilean Population.
Published in:
Pharmaceutics, 2024, v. 16, n. 4, p. 561, doi. 10.3390/pharmaceutics16040561
By:
- Owen, Gareth I.;
- Cordova-Delgado, Miguel;
- Bustos, Bernabé I.;
- Cerpa, Leslie C.;
- Gonzalez, Pamela;
- Morales-Pison, Sebastián;
- Garcia-Bloj, Benjamín;
- Garrido, Marcelo;
- Miquel, Juan Francisco;
- Quiñones, Luis A.
Publication type:
Article
De novo FRMD5 Missense Variants in Patients with Childhood‐Onset Ataxia, Prominent Nystagmus, and Seizures.
Published in:
Movement Disorders, 2024, v. 39, n. 7, p. 1231, doi. 10.1002/mds.29791
By:
- Keller Sarmiento, Ignacio J.;
- Bustos, Bernabe I.;
- Blackburn, Joanna;
- Hac, Nicholas E.F.;
- Ruzhnikov, Maura;
- Monroe, Matthea;
- Levy, Rebecca J.;
- Kinsley, Lisa;
- Li, Megan;
- Silani, Vincenzo;
- Lubbe, Steven J.;
- Krainc, Dimitri;
- Mencacci, Niccolò E.
Publication type:
Article
Melanin and Neuromelanin: Linking Skin Pigmentation and Parkinson's Disease.
Published in:
Movement Disorders, 2023, v. 38, n. 2, p. 185, doi. 10.1002/mds.29260
By:
- Krainc, Talia;
- Monje, Mariana H.G.;
- Kinsinger, Morgan;
- Bustos, Bernabe I.;
- Lubbe, Steven J.
Publication type:
Article
YY1‐Related Dystonia: Clinical Aspects and Long‐Term Response to Deep Brain Stimulation.
Published in:
Movement Disorders, 2021, v. 36, n. 6, p. 1461, doi. 10.1002/mds.28547
By:
- Zorzi, Giovanna;
- Keller Sarmiento, Ignacio Juan;
- Danti, Federica Rachele;
- Bustos, Bernabe I.;
- Invernizzi, Federica;
- Panteghini, Celeste;
- Reale, Chiara;
- Garavaglia, Barbara;
- Chiapparini, Luisa;
- Lubbe, Steven J.;
- Nardocci, Nardo;
- Mencacci, Niccolò E.
Publication type:
Article
YY1-Related Dystonia: Clinical Aspects and Long-Term Response to Deep Brain Stimulation.
Published in:
2021
By:
- Zorzi, Giovanna;
- Keller Sarmiento, Ignacio Juan;
- Danti, Federica Rachele;
- Bustos, Bernabe I.;
- Invernizzi, Federica;
- Panteghini, Celeste;
- Reale, Chiara;
- Garavaglia, Barbara;
- Chiapparini, Luisa;
- Lubbe, Steven J.;
- Nardocci, Nardo;
- Mencacci, Niccolò E.
Publication type:
Case Study
Whole Genome Sequence, Variant Discovery and Annotation in Mapuche-Huilliche Native South Americans.
Published in:
Scientific Reports, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41598-019-39391-z
By:
- Vidal, Elena A.;
- Moyano, Tomás C.;
- Bustos, Bernabé I.;
- Pérez-Palma, Eduardo;
- Moraga, Carol;
- Riveras, Eleodoro;
- Montecinos, Alejandro;
- Azócar, Lorena;
- Soto, Daniela C.;
- Vidal, Mabel;
- Di Genova, Alex;
- Puschel, Klaus;
- Nürnberg, Peter;
- Buch, Stephan;
- Hampe, Jochen;
- Allende, Miguel L.;
- Cambiazo, Verónica;
- González, Mauricio;
- Hodar, Christian;
- Montecino, Martín
Publication type:
Article
Variants in ABCG8 and TRAF3 genes confer risk for gallstone disease in admixed Latinos with Mapuche Native American ancestry.
Published in:
Scientific Reports, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41598-018-35852-z
By:
- Bustos, Bernabé I.;
- Pérez-Palma, Eduardo;
- Buch, Stephan;
- Azócar, Lorena;
- Riveras, Eleodoro;
- Ugarte, Giorgia D.;
- Toliat, Mohammad;
- Nürnberg, Peter;
- Lieb, Wolfgang;
- Franke, Andre;
- Hinz, Sebastian;
- Burmeister, Greta;
- von Schönfels, Witigo;
- Schafmayer, Clemens;
- Völzke, Henry;
- Völker, Uwe;
- Homuth, Georg;
- Lerch, Markus M.;
- Santos, José Luis;
- Puschel, Klaus
Publication type:
Article
Early Transcriptional Changes Induced by Wnt/β-Catenin Signaling in Hippocampal Neurons.
Published in:
Neural Plasticity, 2016, p. 1, doi. 10.1155/2016/4672841
By:
- Pérez-Palma, Eduardo;
- Andrade, Víctor;
- Caracci, Mario O.;
- Bustos, Bernabé I.;
- Villaman, Camilo;
- Medina, Matías A.;
- Ávila, Miguel E.;
- Ugarte, Giorgia D.;
- De Ferrari, Giancarlo V.
Publication type:
Article

Found: 16