The Use of Next-Generation Sequencing in Movement Disorders

por Krebs, Catharine E., Paisán-Ruiz, Coro
Publicado 2012

Thinning of the Corpus Callosum and Cerebellar Atrophy is Correlated with Phenotypic Severity in a Family with Spastic Paraplegia Type 11

por Rajakulendran, Sanjeev, Paisán-Ruiz, Coro, Houlden, Henry
Publicado 2011

LRRK2: Cause, Risk, and Mechanism

por Paisán-Ruiz, Coro, Lewis, Patrick A., Singleton, Andrew B.
Publicado 2013

PLA2G6-associated Dystonia–Parkinsonism: Case Report and Literature Review

por Karkheiran, Siamak, Shahidi, Gholam Ali, Walker, Ruth H., Paisán-Ruiz, Coro
Publicado 2015

Whole genome sequencing identifies a novel homozygous exon deletion in the NT5C2 gene in a family with intellectual disability and spastic paraplegia

por Darvish, Hossein, Azcona, Luis J., Tafakhori, Abbas, Ahmadi, Mona, Ahmadifard, Azadeh, Paisán-Ruiz, Coro
Publicado 2017

Whole-exome sequencing associates novel CSMD1 gene mutations with familial Parkinson disease

por Ruiz-Martínez, Javier, Azcona, Luis J., Bergareche, Alberto, Martí-Massó, Jose F., Paisán-Ruiz, Coro
Publicado 2017

GIGYF2 mutation in late-onset Parkinson’s disease with cognitive impairment

por Ruiz-Martinez, Javier, Krebs, Catharine E., Makarov, Vladimir, Gorostidi, Ana, Martí-Massó, Jose Félix, Paisán-Ruiz, Coro
Publicado 2015

Molecular characterization of PRKN structural variations identified through whole‐genome sequencing

por Bravo, Paloma, Darvish, Hossein, Tafakhori, Abbas, Azcona, Luis J., Johari, Amir Hossein, Jamali, Faezeh, Paisán‐Ruiz, Coro
Publicado 2018

A novel PUS7 mutation causes intellectual disability with autistic and aggressive behaviors

por Darvish, Hossein, Azcona, Luis J., Alehabib, Elham, Jamali, Faezeh, Tafakhori, Abbas, Ranji-Burachaloo, Sakineh, Jen, Joanna C., Paisán-Ruiz, Coro
Publicado 2019

Identification of a novel monogenic autoinflammatory disease due to mutation in a mitochondrial chaperone protein in a single kindred, and cure with allogeneic haematopoietic stem...

por Standing, Ariane, Paisan-Ruiz, Coro, Eleftheriou, Despina, Hong, Ying, Omoyinmi, Ebun, Rowcenzio, Dorota, Lachmann, Helen, Hawkins, Philip, Woo, Patricia, Klein, Nigel, Brogan, Paul
Publicado 2014

SORT1 Mutation Resulting in Sortilin Deficiency and p75(NTR) Upregulation in a Family With Essential Tremor

por Sánchez, Elena, Bergareche, Alberto, Krebs, Catharine E., Gorostidi, Ana, Makarov, Vladimir, Ruiz-Martinez, Javier, Chorny, Alejo, Lopez de Munain, Adolfo, Marti-Masso, Jose Felix, Paisán-Ruiz, Coro
Publicado 2015

Widespread Lewy body and tau accumulation in childhood and adult onset dystonia-parkinsonism cases with PLA2G6 mutations

por Paisán-Ruiz, Coro, Li, Abi, Schneider, Susanne A., Holton, Janice L., Johnson, Robert, Kidd, Desmond, Chataway, Jeremy, Bhatia, Kailash P., Lees, Andrew J., Hardy, John, Revesz, Tamas, Houlden, Henry
Publicado 2012

Measures of Autozygosity in Decline: Globalization, Urbanization, and Its Implications for Medical Genetics

por Nalls, Michael A., Simon-Sanchez, Javier, Gibbs, J. Raphael, Paisan-Ruiz, Coro, Bras, Jose Tomas, Tanaka, Toshiko, Matarin, Mar, Scholz, Sonja, Weitz, Charles, Harris, Tamara B., Ferrucci, Luigi, Hardy, John, Singleton, Andrew B.
Publicado 2009

TRAP1 chaperone protein mutations and autoinflammation

por Standing, Ariane SI, Hong, Ying, Paisan-Ruiz, Coro, Omoyinmi, Ebun, Medlar, Alan, Stanescu, Horia, Kleta, Robert, Rowcenzio, Dorota, Hawkins, Philip, Lachmann, Helen, McDermott, Michael F, Eleftheriou, Despina, Klein, Nigel, Brogan, Paul A
Publicado 2019

Phenotypic and genotypic characterization of families with complex intellectual disability identified pathogenic genetic variations in known and novel disease genes

por Darvish, Hossein, Azcona, Luis J., Tafakhori, Abbas, Mesias, Roxana, Ahmadifard, Azadeh, Sanchez, Elena, Habibi, Arman, Alehabib, Elham, Johari, Amir Hossein, Emamalizadeh, Babak, Jamali, Faezeh, Chapi, Marjan, Jamshidi, Javad, Kajiwara, Yuji, Paisán-Ruiz, Coro
Publicado 2020

Mutations in Gamma Adducin are Associated With Inherited Cerebral Palsy

por Kruer, Michael C, Jepperson, Tyler, Dutta, Sudeshna, Steiner, Robert D, Cottenie, Ellen, Sanford, Lynn, Merkens, Mark, Russman, Barry S, Blasco, Peter A, Fan, Guang, Pollock, Jeffrey, Green, Sarah, Woltjer, Randall L, Mooney, Catherine, Kretzschmar, Doris, Paisán-Ruiz, Coro, Houlden, Henry
Publicado 2013

Genome-Wide Association Study reveals genetic risk underlying Parkinson’s disease

por Simon-Sanchez, Javier, Schulte, Claudia, Bras, Jose M, Sharma, Manu, Gibbs, J Raphael, Berg, Daniela, Paisan-Ruiz, Coro, Lichtner, Peter, Scholz, Sonja W, Hernandez, Dena G, Kruger, Rejko, Federoff, Monica, Klein, Christine, Goate, Alison, Perlmutter, Joel, Bonin, Michael, Nalls, Michael A, Illig, Thomas, Gieger, Christian, Houlden, Henry, Steffens, Michael, Okun, Michael S., Cookson, Mark, Foote, Kelly D, Fernandez, Hubert H, Traynor, Bryan J., Schreiber, Stefan, Arepalli, Sampath, Zonozi, Ryan, Gwinn, Katrina, van der Brug, Marcel, Lopez, Grisel, Chanock, Stephen J, Schatzkin, Arthur, Park, Yikyung, Hollenbeck, Albert, Gao, Jianjun, Huang, Xuemei, Wood, Nick W, Lorenz, Delia, Deuschl, Gunther, Chen, Honglei, Riess, Olaf, Hardy, John A, Singleton, Andrew B, Gasser, Thomas
Publicado 2009

Dissection of the genetics of Parkinson's disease identifies an additional association 5′ of SNCA and multiple associated haplotypes at 17q21

por Spencer, Chris C.A., Plagnol, Vincent, Strange, Amy, Gardner, Michelle, Paisan-Ruiz, Coro, Band, Gavin, Barker, Roger A., Bellenguez, Celine, Bhatia, Kailash, Blackburn, Hannah, Blackwell, Jennie M., Bramon, Elvira, Brown, Martin A., Brown, Matthew A., Burn, David, Casas, Juan-Pablo, Chinnery, Patrick F., Clarke, Carl E., Corvin, Aiden, Craddock, Nicholas, Deloukas, Panos, Edkins, Sarah, Evans, Jonathan, Freeman, Colin, Gray, Emma, Hardy, John, Hudson, Gavin, Hunt, Sarah, Jankowski, Janusz, Langford, Cordelia, Lees, Andrew J., Markus, Hugh S., Mathew, Christopher G., McCarthy, Mark I., Morrison, Karen E., Palmer, Colin N.A., Pearson, Justin P., Peltonen, Leena, Pirinen, Matti, Plomin, Robert, Potter, Simon, Rautanen, Anna, Sawcer, Stephen J., Su, Zhan, Trembath, Richard C., Viswanathan, Ananth C., Williams, Nigel W., Morris, Huw R., Donnelly, Peter, Wood, Nicholas W.
Publicado 2011