Alexis Brice

ORCID

Publication Activity (10 Years)

Years Active: 2020-2024
Publications (10 Years): 28

Top Venues

medRxiv : the preprint server for health sciences

Acta neuropathologica

Annals of neurology

Arquivos de neuro-psiquiatria

Unité Mixte de Recherche Inserm U1127, CNRS 7225, SU 1127

Université Paris Descartes (PHD)

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Unité Mixte de Recherche Inserm U1127, CNRS 7225, SU 1127

France

Director

Institut du Cerveau et de la Moelle Épinière

France

executive director

Sorbonne University

France

professor :: medical genetics

Assistance Publique -Hopitaux De Paris

France

consultant :: genetics

Institut Hospitalo Universitaire (IHU) A ICM

France

Scientific director

Assistance Publique - Hôpitaux de Paris

France

Director :: National Reference Center for Neurogenetics

Assistance Publique - Hôpitaux de Paris

France

Department head :: medical genetics

Sorbonne University

France

associate professor :: Cell Biology

Education History

Université Paris Descartes

France

PHD

Publications

Emil Karl Gustavsson, Jordan Follett, Joanne Trinh, Sandeep Kumar Barodia, Raquel Real, Zhiyong Liu, Melissa Grant-Peters, Jesse D Fox, Silke Appel-Cresswell, A Jon Stoessl, Alex Rajput, Ali H Rajput, Roland Auer, Russel Tilney, Marc Sturm, Tobias B Haack, Suzanne Lesage, Christelle Tesson, Alexis Brice, Carles Vilariño-Güell, Mina Ryten, Matthew S Goldberg, Andrew B West, Michele Tao-Ming Hu, Huw R Morris, Manu Sharma, Ziv Gan Or, Bedia Samanci, Pawel Lis, Maria Teresa Periñán, Rim Amouri, Samia Ben Sassi, Faycel Hentati, null null, Francesca Tonelli, Dario R Alessi, Matthew J Farrer
A pathogenic variant in RAB32 causes autosomal dominant Parkinson's disease and activates LRRK2 kinase . medRxiv : the preprint server for health sciences (2024)
Hui Wang, Timothy S Chang, Beth A Dombroski, Po-Liang Cheng, Vishakha Patil, Leopoldo Valiente-Banuet, Kurt Farrell, Catriona Mclean, Laura Molina-Porcel, Alex Rajput, Peter Paul de Deyn, Nathalie Le Bastard, Marla Gearing, Laura Donker Kaat, John C Van Swieten, Elise Dopper, Bernardino F Ghetti, Kathy L Newell, Claire Troakes, Justo G de Yébenes, Alberto Rábano-Gutierrez, Tina Meller, Wolfgang Hermann Oertel, Gesine Respondek, Maria Stamelou, Thomas Arzberger, Sigrun Roeber, Ulrich Müller, Franziska Hopfner, Pau Pastor, Alexis Brice, Alexandra Dürr, Isabelle Le Ber, Thomas G Beach, Geidy E Serrano, Lili-Naz Hazrati, Irene Litvan, Rosa Rademakers, Owen A Ross, Douglas Galasko, Adam L Boxer, Bruce L Miller, Willian W Seeley, Vivanna M Van Deerlin, Edward B Lee, Charles L White, Huw R Morris, Rohan de Silva, John F Crary, Alison Mary Goate, Jeffrey S Friedman, Yuk Yee Leung, Giovanni Coppola, Adam C Naj, Li-San Wang, null null, Gourisankar Ghosh, Günter U Höglinger, Gerard D Schellenberg, Daniel H Geschwind, Wan-Ping Lee
Whole-Genome Sequencing Analysis Reveals New Susceptibility Loci and Structural Variants Associated with Progressive Supranuclear Palsy. medRxiv : the preprint server for health sciences (2024)
Emil Karl Gustavsson, Jordan Follett, Joanne Trinh, Sandeep Kumar Barodia, Raquel Real, Zhiyong Liu, Melissa Grant-Peters, Jesse D Fox, Silke Appel-Cresswell, A Jon Stoessl, Alex Rajput, Ali H Rajput, Roland Auer, Russel Tilney, Marc Sturm, Tobias B Haack, Suzanne Lesage, Christelle Tesson, Alexis Brice, Carles Vilariño-Güell, Mina Ryten, Matthew S Goldberg, Andrew B West, Michele Tao-Ming Hu, Huw R Morris, Manu Sharma, Ziv Gan Or, Bedia Samanci, Pawel Lis, Maria Teresa Periñán, Rim Amouri, Samia Ben Sassi, Faycel Hentati, null null, Francesca Tonelli, Dario R Alessi, Matthew J Farrer
A pathogenic variant in RAB32 causes autosomal dominant Parkinson's disease and activates LRRK2 kinase. medRxiv : the preprint server for health sciences (2024)
Jonasz Jeremiasz Weber, Leah Czisch, Priscila Pereira Sena, Florian Fath, Chrisovalantou Huridou, Natasa Schwarz, Rana Dilara Incebacak Eltemur, Anna Würth, Daniel Weishäupl, Miriam Döcker, Gunnar Blumenstock, Sandra Martins, Leonor Correia Guedes, Guy A Rouleau, Laura Bannach Jardim, Maria-Luiza Saraiva-Pereira, Marcondes Cavalcante de França Junior, Carlos R Gordon, Roy Zaltzman, Mario R Cornejo-Olivas, Bart P C van de Warrenburg, Alexandra Dürr, Alexis Brice, Peter Bauer, Thomas Klockgether, Ludger Schöls, Olaf H Rieß, null null, Thorsten Schmidt
The parkin V380L variant is a genetic modifier of Machado-Joseph disease with impact on mitophagy. Acta neuropathologica 148 (1) (2024)
Emil Karl Gustavsson, Jordan Follett, Joanne Trinh, Sandeep Kumar Barodia, Raquel Real, Zhiyong Liu, Melissa Grant-Peters, Jesse D Fox, Silke Appel-Cresswell, A Jon Stoessl, Alex Rajput, Ali H Rajput, Roland Auer, Russel Tilney, Marc Sturm, Tobias B Haack, Suzanne Lesage, Christelle Tesson, Alexis Brice, Carles Vilariño-Güell, Mina Ryten, Matthew S Goldberg, Andrew B West, Michele Tao-Ming Hu, Huw R Morris, Manu Sharma, Ziv Gan Or, Bedia Samanci, Pawel Lis, Maria Teresa Periñán, Rim Amouri, Samia Ben Sassi, Faycel Hentati, null null, Francesca Tonelli, Dario R Alessi, Matthew J Farrer
A pathogenic variant in RAB32 causes autosomal dominant Parkinson's disease and activates LRRK2 kinase. medRxiv : the preprint server for health sciences (2024)
Jonasz Jeremiasz Weber, Leah Czisch, Priscila Pereira Sena, Florian Fath, Chrisovalantou Huridou, Natasa Schwarz, Rana Dilara Incebacak Eltemur, Anna Würth, Daniel Weishäupl, Miriam Döcker, Gunnar Blumenstock, Sandra Martins, Leonor Correia Guedes, Guy A Rouleau, Laura Bannach Jardim, Maria-Luiza Saraiva-Pereira, Marcondes Cavalcante de França Junior, Carlos R Gordon, Roy Zaltzman, Mario R Cornejo-Olivas, Bart P C van de Warrenburg, Alexandra Dürr, Alexis Brice, Peter Bauer, Thomas Klockgether, Ludger Schöls, Olaf H Rieß, null null, Thorsten Schmidt
The parkin V380L variant is a genetic modifier of Machado-Joseph disease with impact on mitophagy. Acta neuropathologica 148 (1) (2024)
Hui Wang, Timothy S Chang, Beth A Dombroski, Po-Liang Cheng, Vishakha Patil, Leopoldo Valiente-Banuet, Kurt Farrell, Catriona Mclean, Laura Molina-Porcel, Alex Rajput, Peter Paul de Deyn, Nathalie Le Bastard, Marla Gearing, Laura Donker Kaat, John C Van Swieten, Elise Dopper, Bernardino F Ghetti, Kathy L Newell, Claire Troakes, Justo G de Yébenes, Alberto Rábano-Gutierrez, Tina Meller, Wolfgang Hermann Oertel, Gesine Respondek, Maria Stamelou, Thomas Arzberger, Sigrun Roeber, Ulrich Müller, Franziska Hopfner, Pau Pastor, Alexis Brice, Alexandra Dürr, Isabelle Le Ber, Thomas G Beach, Geidy E Serrano, Lili-Naz Hazrati, Irene Litvan, Rosa Rademakers, Owen A Ross, Douglas Galasko, Adam L Boxer, Bruce L Miller, Willian W Seeley, Vivanna M Van Deerlin, Edward B Lee, Charles L White, Huw R Morris, Rohan de Silva, John F Crary, Alison Mary Goate, Jeffrey S Friedman, Yuk Yee Leung, Giovanni Coppola, Adam C Naj, Li-San Wang, null null, Gourisankar Ghosh, Günter U Höglinger, Gerard D Schellenberg, Daniel H Geschwind, Wan-Ping Lee
Whole-Genome Sequencing Analysis Reveals New Susceptibility Loci and Structural Variants Associated with Progressive Supranuclear Palsy. medRxiv : the preprint server for health sciences (2024)
Francesca Magrinelli, Christelle Tesson, Plamena R Angelova, Ainara Salazar-Villacorta, Jose A Rodriguez, Annarita Scardamaglia, Brian Hon-Yin Chung, Matthew Jaconelli, Barbara Vona, Noemí Esteras, Anna Ka-Yee Kwong, Thomas Courtin, Reza Maroofian, Shahryar Alavi, Raja S Nirujogi, Mariasavina Severino, Patrick A Lewis, Stephanie Efthymiou, Benjamin J O'Callaghan, Rebecca Buchert, Linda Sofan, Pawel Lis, Chloé Pinon, Guido J Breedveld, Martin Man Chun Chui, David P Murphy, Vanessa Pitz, Mary B Makarious, Marlene Cassar, Bassem A Hassan, Sana Iftikhar, Clarissa Rocca, Peter Bauer, Michele Tinazzi, Marina Svetel, Bedia Samanci, Hasmet A Hanagasi, Basar Bilgiç, Jose A Obeso, Mónica M Kurtis, Guillaume Cogan, Ayse Nazli Basak, Güneş Kiziltan, Tuğçe Gül, Gül Yalçın Çakmaklı, Bülent Elibol, Nina Barisic, Earny Wei-Sen Ng, Sze-Shing Fan, Tova Hershkovitz, Karin Weiss, Javeria Raza Alvi, Tipu Sultan, Issam Azmi Alkhawaja, Tawfiq Froukh, Hadeel Abdollah E Alrukban, Christine Fauth, Ulrich A Schatz, Thomas Zöggeler, Michael Zech, Karen L Stals, Vinod C Varghese, Sonia Gandhi, Cornelis Blauwendraat, John A Hardy, Suzanne Lesage, Vincenzo Bonifati, Tobias B Haack, Aida Maria Bertoli-Avella, Robert Steinfeld, Dario R Alessi, Hermann Steller, Alexis Brice, Andrey Y Abramov, Kailash P Bhatia, Henry Houlden
PSMF1 variants cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality by disrupting mitochondrial pathways. medRxiv : the preprint server for health sciences (2024)
Francesca Magrinelli, Christelle Tesson, Plamena R Angelova, Ainara Salazar-Villacorta, Jose A Rodriguez, Annarita Scardamaglia, Brian Hon-Yin Chung, Matthew Jaconelli, Barbara Vona, Noemí Esteras, Anna Ka-Yee Kwong, Thomas Courtin, Reza Maroofian, Shahryar Alavi, Raja S Nirujogi, Mariasavina Severino, Patrick A Lewis, Stephanie Efthymiou, Benjamin J O'Callaghan, Rebecca Buchert, Linda Sofan, Pawel Lis, Chloé Pinon, Guido J Breedveld, Martin Man Chun Chui, David P Murphy, Vanessa Pitz, Mary B Makarious, Marlene Cassar, Bassem A Hassan, Sana Iftikhar, Clarissa Rocca, Peter Bauer, Michele Tinazzi, Marina Svetel, Bedia Samanci, Hasmet A Hanagasi, Basar Bilgiç, Jose A Obeso, Mónica M Kurtis, Guillaume Cogan, Ayse Nazli Basak, Güneş Kiziltan, Tuğçe Gül, Gül Yalçın Çakmaklı, Bülent Elibol, Nina Barisic, Earny Wei-Sen Ng, Sze-Shing Fan, Tova Hershkovitz, Karin Weiss, Javeria Raza Alvi, Tipu Sultan, Issam Azmi Alkhawaja, Tawfiq Froukh, Hadeel Abdollah E Alrukban, Christine Fauth, Ulrich A Schatz, Thomas Zöggeler, Michael Zech, Karen L Stals, Vinod C Varghese, Sonia Gandhi, Cornelis Blauwendraat, John A Hardy, Suzanne Lesage, Vincenzo Bonifati, Tobias B Haack, Aida Maria Bertoli-Avella, Robert Steinfeld, Dario R Alessi, Hermann Steller, Alexis Brice, Andrey Y Abramov, Kailash P Bhatia, Henry Houlden
PSMF1 variants cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality by disrupting mitochondrial pathways. medRxiv : the preprint server for health sciences (2024)
Cloé Domenighetti, Pierre-Emmanuel Sugier, Ashwin Ashok Kumar Sreelatha, Claudia Schulte, Sandeep Grover, Berta Portugal, Pei-Chen Lee, Patrick May, Dheeraj Bobbili, Milena Radivojkov Blagojevic, Peter Lichtner, Andrew B Singleton, Dena Hernandez, Connor Edsall, George D Mellick, Alexander A Zimprich, Walter Pirker, Ekaterina A Rogaeva, Anthony E Lang, Sulev Kõks, Pille Taba, Suzanne Lesage, Alexis Brice, Jean-Christophe Corvol, Marie-Christine Chartier-Harlin, Eugenie Mutez, Kathrin Brockman, Angela B Deutschländer, Georgios M Hadjigeorgiou, Efthimios Dardiotis, Leonidas Stefanis, Athina Maria Simitsi, Enza Maria Valente, Simona Petrucci, Letizia Straniero, Anna L Zecchinelli, Gianni Pezzoli, Laura Brighina, Carlo Ferrarese, Grazia Annesi, Andrea Quattrone, Monica Gagliardi, Hirotaka Matsuo, Akiyoshi Nakayama, Nobutaka Hattori, Kenya Nishioka, Sun Ju Chung, Yoon Joong Kim, Pierre Kolber, Bart P C Van De Warrenburg, Bastiaan R Bloem, Mathias Toft, Lasse Pihlstrom, Leonor Correia Guedes, Joaquim José Ferreira, Soraya Bardien, Jonathan A Carr, Eduardo Tolosa, Mario Ezquerra, Pau Pastor, Mónica Diez-Fairen, Karin Wirdefeldt, Nancy L Pedersen, Caroline Ran, Andrea Carmine Belin, Andreas Puschmann, Clara Hellberg, Carl E Clarke, Karen E Morrison, Manuela M X Tan, Dimitri Krainc, Lena F Burbulla, Matthew J Farrer, Rejko Krüger, Thomas Gasser, Manu Sharma, Alexis Elbaz, null null
Association of Body Mass Index and Parkinson Disease: A Bidirectional Mendelian Randomization Study. Neurology 103 (3) (2024)
Emil Karl Gustavsson, Jordan Follett, Joanne Trinh, Sandeep Kumar Barodia, Raquel Real, Zhiyong Liu, Melissa Grant-Peters, Jesse D Fox, Silke Appel-Cresswell, A Jon Stoessl, Alex Rajput, Ali H Rajput, Roland Auer, Russel Tilney, Marc Sturm, Tobias B Haack, Suzanne Lesage, Christelle Tesson, Alexis Brice, Carles Vilariño-Güell, Mina Ryten, Matthew S Goldberg, Andrew B West, Michele Tao-Ming Hu, Huw R Morris, Manu Sharma, Ziv Gan Or, Bedia Samanci, Pawel Lis, Maria Teresa Periñán, Rim Amouri, Samia Ben Sassi, Faycel Hentati, null null, Francesca Tonelli, Dario R Alessi, Matthew J Farrer
A pathogenic variant in RAB32 causes autosomal dominant Parkinson's disease and activates LRRK2 kinase. medRxiv : the preprint server for health sciences (2024)
Francesca Magrinelli, Christelle Tesson, Plamena R Angelova, Ainara Salazar-Villacorta, Jose A Rodriguez, Annarita Scardamaglia, Brian Hon-Yin Chung, Matthew Jaconelli, Barbara Vona, Noemí Esteras, Anna Ka-Yee Kwong, Thomas Courtin, Reza Maroofian, Shahryar Alavi, Raja S Nirujogi, Mariasavina Severino, Patrick A Lewis, Stephanie Efthymiou, Benjamin J O'Callaghan, Rebecca Buchert, Linda Sofan, Pawel Lis, Chloé Pinon, Guido J Breedveld, Martin Man Chun Chui, David P Murphy, Vanessa Pitz, Mary B Makarious, Marlene Cassar, Bassem A Hassan, Sana Iftikhar, Clarissa Rocca, Peter Bauer, Michele Tinazzi, Marina Svetel, Bedia Samanci, Hasmet A Hanagasi, Basar Bilgiç, Jose A Obeso, Mónica M Kurtis, Guillaume Cogan, Ayse Nazli Basak, Güneş Kiziltan, Tuğçe Gül, Gül Yalçın Çakmaklı, Bülent Elibol, Nina Barisic, Earny Wei-Sen Ng, Sze-Shing Fan, Tova Hershkovitz, Karin Weiss, Javeria Raza Alvi, Tipu Sultan, Issam Azmi Alkhawaja, Tawfiq Froukh, Hadeel Abdollah E Alrukban, Christine Fauth, Ulrich A Schatz, Thomas Zöggeler, Michael Zech, Karen L Stals, Vinod C Varghese, Sonia Gandhi, Cornelis Blauwendraat, John A Hardy, Suzanne Lesage, Vincenzo Bonifati, Tobias B Haack, Aida Maria Bertoli-Avella, Robert Steinfeld, Dario R Alessi, Hermann Steller, Alexis Brice, Andrey Y Abramov, Kailash P Bhatia, Henry Houlden
PSMF1 variants cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality by disrupting mitochondrial pathways. medRxiv : the preprint server for health sciences (2024)
Guillaume Cogan, Kensuke Daida, Kimberley J Billingsley, Christelle Tesson, Sylvie Forlani, Ludmila Jornea, Lionel Arnaud, Laurene Tissier, Eric Le Guern, Andrew B Singleton, Mélanie Ferrien, Hélène Gervais Bernard, Suzanne Lesage, Cornelis Blauwendraat, Alexis Brice
Long-read sequencing unravels the complexity of structural variants in PRKN in two individuals with early-onset Parkinson's disease. medRxiv : the preprint server for health sciences (2024)
Hui Wang, Timothy S Chang, Beth A Dombroski, Po-Liang Cheng, Ya-Qin Si, Albert Tucci, Vishakha Patil, Leopoldo Valiente-Banuet, Kurt Farrell, Catriona Mclean, Laura Molina-Porcel, Rajput Alex, Peter Paul de Deyn, Nathalie Le Bastard, Marla Gearing, Laura Donker Kaat, John C Van Swieten, Elise Dopper, Bernardino F Ghetti, Kathy L Newell, Claire Troakes, Justo G de Yébenes, Alberto Rábano-Gutierrez, Tina Meller, Wolfgang Hermann Oertel, Gesine Respondek, Maria Stamelou, Thomas Arzberger, Sigrun Roeber, Ulrich Müller, Franziska Hopfner, Pau Pastor, Alexis Brice, Alexandra Durr, Isabelle Le Ber, Thomas G Beach, Geidy E Serrano, Lili-Naz Hazrati, Irene Litvan, Rosa Rademakers, Owen A Ross, Douglas Galasko, Adam L Boxer, Bruce L Miller, Willian W Seeley, Vivanna M Van Deerlin, Edward B Lee, Charles L White, Huw R Morris, Rohan de Silva, John F Crary, Alison Mary Goate, Jeffrey S Friedman, Yuk Yee Leung, Giovanni Coppola, Adam C Naj, Li-San Wang, null null, Dennis W Dickson, Günter U Höglinger, Jung-Ying Tzeng, Daniel H Geschwind, Gerard D Schellenberg, Wan-Ping Lee
Association of Structural Forms of 17q21.31 with the Risk of Progressive Supranuclear Palsy and MAPT Sub-haplotypes. medRxiv : the preprint server for health sciences (2024)
Hui Wang, Timothy S Chang, Beth A Dombroski, Po-Liang Cheng, Vishakha Patil, Leopoldo Valiente-Banuet, Kurt Farrell, Catriona Mclean, Laura Molina-Porcel, Alex Rajput, Peter Paul de Deyn, Nathalie Le Bastard, Marla Gearing, Laura Donker Kaat, John C Van Swieten, Elise Dopper, Bernardino F Ghetti, Kathy L Newell, Claire Troakes, Justo G de Yébenes, Alberto Rábano-Gutierrez, Tina Meller, Wolfgang Hermann Oertel, Gesine Respondek, Maria Stamelou, Thomas Arzberger, Sigrun Roeber, Ulrich Müller, Franziska Hopfner, Pau Pastor, Alexis Brice, Alexandra Dürr, Isabelle Le Ber, Thomas G Beach, Geidy E Serrano, Lili-Naz Hazrati, Irene Litvan, Rosa Rademakers, Owen A Ross, Douglas Galasko, Adam L Boxer, Bruce L Miller, Willian W Seeley, Vivanna M Van Deerlin, Edward B Lee, Charles L White, Huw R Morris, Rohan de Silva, John F Crary, Alison Mary Goate, Jeffrey S Friedman, Yuk Yee Leung, Giovanni Coppola, Adam C Naj, Li-San Wang, null null, Gourisankar Ghosh, Günter U Höglinger, Gerard D Schellenberg, Daniel H Geschwind, Wan-Ping Lee
Whole-Genome Sequencing Analysis Reveals New Susceptibility Loci and Structural Variants Associated with Progressive Supranuclear Palsy. medRxiv : the preprint server for health sciences (2024)
Guillaume Cogan, Kensuke Daida, Kimberley J Billingsley, Christelle Tesson, Sylvie Forlani, Ludmila Jornea, Lionel Arnaud, Laurene Tissier, Eric Le Guern, Andrew B Singleton, Mélanie Ferrien, Hélène Gervais Bernard, Suzanne Lesage, Cornelis Blauwendraat, Alexis Brice
Long-read sequencing unravels the complexity of structural variants in PRKN in two individuals with early-onset Parkinson's disease. medRxiv : the preprint server for health sciences (2024)
Hui Wang, Timothy S Chang, Beth A Dombroski, Po-Liang Cheng, Vishakha Patil, Leopoldo Valiente-Banuet, Kurt Farrell, Catriona Mclean, Laura Molina-Porcel, Alex Rajput, Peter Paul de Deyn, Nathalie Le Bastard, Marla Gearing, Laura Donker Kaat, John C Van Swieten, Elise Dopper, Bernardino F Ghetti, Kathy L Newell, Claire Troakes, Justo G de Yébenes, Alberto Rábano-Gutierrez, Tina Meller, Wolfgang Hermann Oertel, Gesine Respondek, Maria Stamelou, Thomas Arzberger, Sigrun Roeber, Ulrich Müller, Franziska Hopfner, Pau Pastor, Alexis Brice, Alexandra Dürr, Isabelle Le Ber, Thomas G Beach, Geidy E Serrano, Lili-Naz Hazrati, Irene Litvan, Rosa Rademakers, Owen A Ross, Douglas Galasko, Adam L Boxer, Bruce L Miller, Willian W Seeley, Vivanna M Van Deerlin, Edward B Lee, Charles L White, Huw R Morris, Rohan de Silva, John F Crary, Alison Mary Goate, Jeffrey S Friedman, Yuk Yee Leung, Giovanni Coppola, Adam C Naj, Li-San Wang, null null, Gourisankar Ghosh, Günter U Höglinger, Gerard D Schellenberg, Daniel H Geschwind, Wan-Ping Lee
Whole-Genome Sequencing Analysis Reveals New Susceptibility Loci and Structural Variants Associated with Progressive Supranuclear Palsy. medRxiv : the preprint server for health sciences (2024)
Emil Karl Gustavsson, Jordan Follett, Joanne Trinh, Sandeep Kumar Barodia, Raquel Real, Zhiyong Liu, Melissa Grant-Peters, Jesse D Fox, Silke Appel-Cresswell, A Jon Stoessl, Alex Rajput, Ali H Rajput, Roland Auer, Russel Tilney, Marc Sturm, Tobias B Haack, Suzanne Lesage, Christelle Tesson, Alexis Brice, Carles Vilariño-Güell, Mina Ryten, Matthew S Goldberg, Andrew B West, Michele Tao-Ming Hu, Huw R Morris, Manu Sharma, Ziv Gan Or, Bedia Samanci, Pawel Lis, Maria Teresa Periñán, Rim Amouri, Samia Ben Sassi, Faycel Hentati, null null, Francesca Tonelli, Dario R Alessi, Matthew J Farrer
A pathogenic variant in RAB32 causes autosomal dominant Parkinson's disease and activates LRRK2 kinase. medRxiv : the preprint server for health sciences (2024)
Hui Wang, Timothy S Chang, Beth A Dombroski, Po-Liang Cheng, Ya-Qin Si, Albert Tucci, Vishakha Patil, Leopoldo Valiente-Banuet, Kurt Farrell, Catriona Mclean, Laura Molina-Porcel, Rajput Alex, Peter Paul de Deyn, Nathalie Le Bastard, Marla Gearing, Laura Donker Kaat, John C Van Swieten, Elise Dopper, Bernardino F Ghetti, Kathy L Newell, Claire Troakes, Justo G de Yébenes, Alberto Rábano-Gutierrez, Tina Meller, Wolfgang Hermann Oertel, Gesine Respondek, Maria Stamelou, Thomas Arzberger, Sigrun Roeber, Ulrich Müller, Franziska Hopfner, Pau Pastor, Alexis Brice, Alexandra Durr, Isabelle Le Ber, Thomas G Beach, Geidy E Serrano, Lili-Naz Hazrati, Irene Litvan, Rosa Rademakers, Owen A Ross, Douglas Galasko, Adam L Boxer, Bruce L Miller, Willian W Seeley, Vivanna M Van Deerlin, Edward B Lee, Charles L White, Huw R Morris, Rohan de Silva, John F Crary, Alison Mary Goate, Jeffrey S Friedman, Yuk Yee Leung, Giovanni Coppola, Adam C Naj, Li-San Wang, null null, Dennis W Dickson, Günter U Höglinger, Jung-Ying Tzeng, Daniel H Geschwind, Gerard D Schellenberg, Wan-Ping Lee
Association of Structural Forms of 17q21.31 with the Risk of Progressive Supranuclear Palsy and MAPT Sub-haplotypes. medRxiv : the preprint server for health sciences (2024)
Hui Wang, Timothy S Chang, Beth A Dombroski, Po-Liang Cheng, Ya-Qin Si, Albert Tucci, Vishakha Patil, Leopoldo Valiente-Banuet, Kurt Farrell, Catriona Mclean, Laura Molina-Porcel, Rajput Alex, Peter Paul de Deyn, Nathalie Le Bastard, Marla Gearing, Laura Donker Kaat, John C Van Swieten, Elise Dopper, Bernardino F Ghetti, Kathy L Newell, Claire Troakes, Justo G de Yébenes, Alberto Rábano-Gutierrez, Tina Meller, Wolfgang Hermann Oertel, Gesine Respondek, Maria Stamelou, Thomas Arzberger, Sigrun Roeber, Ulrich Müller, Franziska Hopfner, Pau Pastor, Alexis Brice, Alexandra Durr, Isabelle Le Ber, Thomas G Beach, Geidy E Serrano, Lili-Naz Hazrati, Irene Litvan, Rosa Rademakers, Owen A Ross, Douglas Galasko, Adam L Boxer, Bruce L Miller, Willian W Seeley, Vivanna M Van Deerlin, Edward B Lee, Charles L White, Huw R Morris, Rohan de Silva, John F Crary, Alison Mary Goate, Jeffrey S Friedman, Yuk Yee Leung, Giovanni Coppola, Adam C Naj, Li-San Wang, null null, Dennis W Dickson, Günter U Höglinger, Jung-Ying Tzeng, Daniel H Geschwind, Gerard D Schellenberg, Wan-Ping Lee
Association of Structural Forms of 17q21.31 with the Risk of Progressive Supranuclear Palsy and MAPT Sub-haplotypes. medRxiv : the preprint server for health sciences (2024)
Jonasz Jeremiasz Weber, Leah Czisch, Priscila Pereira Sena, Florian Fath, Chrisovalantou Huridou, Natasa Schwarz, Rana Dilara Incebacak Eltemur, Anna Würth, Daniel Weishäupl, Miriam Döcker, Gunnar Blumenstock, Sandra Martins, Leonor Correia Guedes, Guy A Rouleau, Laura Bannach Jardim, Maria-Luiza Saraiva-Pereira, Marcondes Cavalcante de França Junior, Carlos R Gordon, Roy Zaltzman, Mario R Cornejo-Olivas, Bart P C van de Warrenburg, Alexandra Dürr, Alexis Brice, Peter Bauer, Thomas Klockgether, Ludger Schöls, Olaf H Rieß, null null, Thorsten Schmidt
The parkin V380L variant is a genetic modifier of Machado-Joseph disease with impact on mitophagy. Acta neuropathologica 148 (1) (2024)
Sandra Martins, Ashraf Yahia, Inês P D Costa, Hassab E Siddig, Rayan Abubaker, Mahmoud E Koko, Marc Corral-Juan, Antoni Matilla-Dueñas, Alexis Brice, Alexandra Dürr, Eric Leguern, Laura P W Ranum, Antonio Amorim, Liena E O Elsayed, Giovanni Stevanin, Leonor Correia Guedes
Machado-Joseph disease in a Sudanese family links East Africa to Portuguese families and allows reestimation of ancestral age of the Machado lineage. Human genetics (2023)
Hui Wang, Timothy S Chang, Beth A Dombroski, Po-Liang Cheng, Vishakha Patil, Leopoldo Valiente-Banuet, Kurt Farrell, Catriona Mclean, Laura Molina-Porcel, Alex Rajput, Peter Paul de Deyn, Nathalie Le Bastard, Marla Gearing, Laura Donker Kaat, John C Van Swieten, Elise Dopper, Bernardino F Ghetti, Kathy L Newell, Claire Troakes, Justo G de Yébenes, Alberto Rábano-Gutierrez, Tina Meller, Wolfgang Hermann Oertel, Gesine Respondek, Thomas Arzberger, Sigrun Roeber, Pau Pastor, Alexis Brice, Alexandra Durr, Isabelle Le Ber, Thomas G Beach, Geidy E Serrano, Lili-Naz Hazrati, Irene Litvan, Rosa Rademakers, Owen A Ross, Douglas Galasko, Adam L Boxer, Bruce L Miller, Willian W Seeley, Vivanna M Van Deerlin, Charles L White, Huw R Morris, Rohan de Silva, John F Crary, Alison Mary Goate, Jeffrey S Friedman, Yuk Yee Leung, Giovanni Coppola, Adam C Naj, Li-San Wang, Dennis W Dickson, Günter U Höglinger, Gerard D Schellenberg, Daniel H Geschwind, Wan-Ping Lee
Whole-Genome Sequencing Analysis Reveals New Susceptibility Loci and Structural Variants Associated with Progressive Supranuclear Palsy. medRxiv : the preprint server for health sciences (2023)
Hui Wang, Timothy S Chang, Beth A Dombroski, Po-Liang Cheng, Vishakha Patil, Leopoldo Valiente-Banuet, Kurt Farrell, Catriona Mclean, Laura Molina-Porcel, Alex Rajput, Peter Paul de Deyn, Nathalie Le Bastard, Marla Gearing, Laura Donker Kaat, John C Van Swieten, Elise Dopper, Bernardino F Ghetti, Kathy L Newell, Claire Troakes, Justo G de Yébenes, Alberto Rábano-Gutierrez, Tina Meller, Wolfgang Hermann Oertel, Gesine Respondek, Thomas Arzberger, Sigrun Roeber, Pau Pastor, Alexis Brice, Alexandra Durr, Isabelle Le Ber, Thomas G Beach, Geidy E Serrano, Lili-Naz Hazrati, Irene Litvan, Rosa Rademakers, Owen A Ross, Douglas Galasko, Adam L Boxer, Bruce L Miller, Willian W Seeley, Vivanna M Van Deerlin, Charles L White, Huw R Morris, Rohan de Silva, John F Crary, Alison Mary Goate, Jeffrey S Friedman, Yuk Yee Leung, Giovanni Coppola, Adam C Naj, Li-San Wang, Dennis W Dickson, Günter U Höglinger, Gerard D Schellenberg, Daniel H Geschwind, Wan-Ping Lee
Whole-Genome Sequencing Analysis Reveals New Susceptibility Loci and Structural Variants Associated with Progressive Supranuclear Palsy. medRxiv : the preprint server for health sciences (2023)
Hui Wang, Timothy S Chang, Beth A Dombroski, Po-Liang Cheng, Vishakha Patil, Leopoldo Valiente-Banuet, Kurt Farrell, Catriona Mclean, Laura Molina-Porcel, Alex Rajput, Peter Paul de Deyn, Nathalie Le Bastard, Marla Gearing, Laura Donker Kaat, John C Van Swieten, Elise Dopper, Bernardino F Ghetti, Kathy L Newell, Claire Troakes, Justo G de Yébenes, Alberto Rábano-Gutierrez, Tina Meller, Wolfgang Hermann Oertel, Gesine Respondek, Thomas Arzberger, Sigrun Roeber, Pau Pastor, Alexis Brice, Alexandra Durr, Isabelle Le Ber, Thomas G Beach, Geidy E Serrano, Lili-Naz Hazrati, Irene Litvan, Rosa Rademakers, Owen A Ross, Douglas Galasko, Adam L Boxer, Bruce L Miller, Willian W Seeley, Vivanna M Van Deerlin, Charles L White, Huw R Morris, Rohan de Silva, John F Crary, Alison Mary Goate, Jeffrey S Friedman, Yuk Yee Leung, Giovanni Coppola, Adam C Naj, Li-San Wang, Dennis W Dickson, Günter U Höglinger, Gerard D Schellenberg, Daniel H Geschwind, Wan-Ping Lee
Whole-Genome Sequencing Analysis Reveals New Susceptibility Loci and Structural Variants Associated with Progressive Supranuclear Palsy. medRxiv : the preprint server for health sciences (2023)
Mathieu Barbier, Melanie Bahlo, Alessandra Pennisi, Maxime Jacoupy, Rick M Tankard, Claire Ewenczyk, Kayli C Davies, Patricia Lino-Coulon, Claire Colace, Haloom Rafehi, Nicolas Auger, Brendan Robert E Ansell, Ivo van der Stelt, Katherine B Howell, Marie Coutelier, David J Amor, Emeline Mundwiller, Lena Guillot-Noël, Elsdon Storey, R J McKinlay Gardner, Mathew J Wallis, Alfredo Brusco, Olga Corti, Agnes Rotig, Richard J Leventer, Alexis Brice, Martin B Delatycki, Giovanni Stevanin, Paul J Lockhart, Alexandra Dürr
Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25. Annals of neurology 92 (1) (2022)
Thomas Courtin, Alexis Brice
Monogenic PD in Brazil: a step towards precision medicine. Arquivos de neuro-psiquiatria 79 (7) (2021)
Christelle Tesson, Ebba Lohmann, David Devos, Hélène Bertrand, Suzanne Lesage, Alexis Brice
Segregation of ATP10B variants in families with autosomal recessive parkinsonism. Acta neuropathologica 140 (5) (2020)

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Alexis Brice