תוצאות חיפוש - Joanne Trinh

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  1. 1
    Disease Penetrance of Late-Onset Parkinsonism

    Disease Penetrance of Late-Onset Parkinsonism מאת Joanne Trinh, Ilaria Guella, Matthew J. Farrer

    יצא לאור 2014
    קבל טקסט מלא
    Revisão
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  2. 2
    <i>LRRK2</i> parkinsonism in Tunisia and Norway: A comparative analysis of disease penetrance

    <i>LRRK2</i> parkinsonism in Tunisia and Norway: A comparative analysis of disease penetrance מאת F. Hentati, Joanne Trinh, Christina Thompson, Ekaterina Nosova, Matthew J. Farrer, Jan Aasly

    יצא לאור 2014
    קבל טקסט מלא
    Artigo
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  3. 3
    Age at Onset of <scp>LRRK2</scp> p.<scp>Gly2019Ser</scp> Is Related to Environmental and Lifestyle Factors

    Age at Onset of <scp>LRRK2</scp> p.<scp>Gly2019Ser</scp> Is Related to Environmental and Lifestyle Factors מאת Theresa Lüth, Inke R. König, Anne Grünewald, Meike Kasten, Christine Klein, F. Hentati, Matthew J. Farrer, Joanne Trinh

    יצא לאור 2020
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    Artigo
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  4. 4
    Novel pathogenic variants and multiple molecular diagnoses in neurodevelopmental disorders

    Novel pathogenic variants and multiple molecular diagnoses in neurodevelopmental disorders מאת Joanne Trinh, Krishna Kumar Kandaswamy, Martin Werber, Maximilian E. R. Weiss, Gabriela Oprea, Shivendra Kishore, Katja Lohmann, Arndt Rolfs

    יצא לאור 2019
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    Artigo
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  5. 5
    Coffee, smoking and aspirin are associated with age at onset in idiopathic Parkinson’s disease

    Coffee, smoking and aspirin are associated with age at onset in idiopathic Parkinson’s disease מאת Carolin Gabbert, Inke R. König, Theresa Lüth, Beke Kolms, Meike Kasten, Eva‐Juliane Vollstedt, Alexander Balck, Anne Grünewald, Christine Klein, Joanne Trinh

    יצא לאור 2022
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    Artigo
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  6. 6
    <i>Shaking Up Ataxia</i>: <scp><i>FGF14</i></scp> and <scp><i>RFC1</i></scp> Repeat Expansions in Affected and Unaffected Members of a Chilean Family

    <i>Shaking Up Ataxia</i>: <scp><i>FGF14</i></scp> and <scp><i>RFC1</i></scp> Repeat Expansions in Affected and Unaffected Members of a Chilean Family מאת Paula Saffie Awad, Katja Lohmann, Yasmin Hirmas, Frauke Hinrichs, Mirja Thomsen, Marcelo Kauffman, Theresa Lüth, Joanne Trinh, Ana Westenberger, Pedro Chaná‐Cuevas, Christine Klein

    יצא לאור 2023
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    Carta
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  7. 7
    Variants in Miro1 Cause Alterations of ER-Mitochondria Contact Sites in Fibroblasts from Parkinson’s Disease Patients

    Variants in Miro1 Cause Alterations of ER-Mitochondria Contact Sites in Fibroblasts from Parkinson’s Disease Patients מאת Clara Berenguer-Escuder, Dajana Großmann, Franҫois Massart, Paul Antony, Lena F. Burbulla, Enrico Glaab, Sophie Imhoff, Joanne Trinh, Philip Seibler, Anne Grünewald, Rejko Krüger

    יצא לאור 2019
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    Artigo
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  8. 8
    Interaction of Mitochondrial Polygenic Score and Lifestyle Factors in <scp>LRRK2</scp> p.<scp>Gly2019Ser</scp> Parkinsonism

    Interaction of Mitochondrial Polygenic Score and Lifestyle Factors in <scp>LRRK2</scp> p.<scp>Gly2019Ser</scp> Parkinsonism מאת Theresa Lüth, Carolin Gabbert, Sebastian Koch, Inke R. König, Amke Caliebe, Björn‐Hergen Laabs, F. Hentati, Samia Ben Sassi, Rim Amouri, Malte Spielmann, Christine Klein, Anne Grünewald, Matthew J. Farrer, Joanne Trinh

    יצא לאור 2023
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    Artigo
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  9. 9
    Utility and implications of exome sequencing in early‐onset Parkinson's disease

    Utility and implications of exome sequencing in early‐onset Parkinson's disease מאת Joanne Trinh, Katja Lohmann, H. Baumann, Alexander Balck, Max Borsche, Norbert Brüggemann, Leon Dure, Marissa Dean, Jens Volkmann, Sinem Tunç, Jannik Prasuhn, Heike Pawlack, Sophie Imhoff, Christina M. Lill, Meike Kasten, Peter Bauer, Arndt Rolfs, Christine Klein

    יצא לאור 2018
    קבל טקסט מלא
    Artigo
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  10. 10
    Mutations in <i>VPS13D</i> lead to a new recessive ataxia with spasticity and mitochondrial defects

    Mutations in <i>VPS13D</i> lead to a new recessive ataxia with spasticity and mitochondrial defects מאת Eunju Seong, Ryan Insolera, Marija Dulović, Erik‐Jan Kamsteeg, Joanne Trinh, Norbert Brüggemann, Erin Sandford, Sheng Li, Ayse Bilge Ozel, Jun Z. Li, Tamison Jewett, Anneke J.A. Kievit, Alexander Münchau, Vikram G. Shakkottai, Christine Klein, Catherine A. Collins, Katja Lohmann, Bart P.C. van de Warrenburg, Margit Burmeister

    יצא לאור 2018
    קבל טקסט מלא
    Artigo
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  11. 11
    Genotype–Phenotype Relations for the Atypical Parkinsonism Genes: MDSGene Systematic Review

    Genotype–Phenotype Relations for the Atypical Parkinsonism Genes: MDSGene Systematic Review מאת Christina Wittke, Sonja Petkovic, Valerija Dobričić, Susen Schaake, Gesine Respondek, Anne Weißbach, Harutyun Madoev, Joanne Trinh, Eva‐Juliane Vollstedt, Neele Kuhnke, Katja Lohmann, Marija Dulovic Mahlow, Connie Marras, Inke R. König, María Stamelou, Vincenzo Bonifati, Christina M. Lill, Meike Kasten, Hans‐Jürgen Huppertz, Günter U. Höglinger, Christine Klein

    יצא לאור 2021
    קבל טקסט מלא
    Revisão
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  12. 12
    Parkin Deficiency Impairs Mitochondrial <scp>DNA</scp> Dynamics and Propagates Inflammation

    Parkin Deficiency Impairs Mitochondrial <scp>DNA</scp> Dynamics and Propagates Inflammation מאת Kobi Wasner, Semra Smajić, Jenny Ghelfi, Sylvie Delcambre, Cesar A. Prada‐Medina, Evelyn Knappe, Giuseppe Arena, Patrycja Mulica, Gideon Agyeah, Aleksandar Raković, Ibrahim Boussaad, Katja Badanjak, Jochen Ohnmacht, Jean‐Jacques Gérardy, Masashi Takanashi, Joanne Trinh, Michel Mittelbronn, Nobutaka Hattori, Christine Klein, Paul Antony, Philip Seibler, Malte Spielmann, Sandro L. Pereira, Anne Grünewald

    יצא לאור 2022
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    Artigo
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  13. 13
    DNM3 and genetic modifiers of age of onset in LRRK2 Gly2019Ser parkinsonism: a genome-wide linkage and association study

    DNM3 and genetic modifiers of age of onset in LRRK2 Gly2019Ser parkinsonism: a genome-wide linkage and association study מאת Joanne Trinh, Emil K. Gustavsson, Carles Vilariño‐Güell, Stephanie Bortnick, Jeanne C. Latourelle, Marna B. McKenzie, Chelsea Szu‐Tu, Ekaterina Nosova, Jaskaran Khinda, Austen J. Milnerwood, Suzanne Lesage, Alexis Brice, Mériem Tazir, Jan Aasly, Laura Parkkinen, Hazal Haytural, Tatiana Foroud, Richard H. Myers, Samia Ben Sassi, Emna Hentati, Fatma Nabli, E. Farhat, Rim Amouri, Fayçal Hentati, Matthew J. Farrer

    יצא לאור 2016
    קבל טקסט מלא
    Artigo
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  14. 14
    De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders

    De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders מאת Marija Dulovic‐Mahlow, Joanne Trinh, Krishna Kumar Kandaswamy, Geir J. Braathen, Nataliya Di Donato, Elisa Rahikkala, Skadi Beblo, Martin Werber, Victor Krajka, Øyvind L. Busk, H. Baumann, Nouriya Al‐Sannaa, Frauke Hinrichs, Rabea Affan, N. Navot, Mohammed Al Balwi, Gabriela Oprea, Øystein L. Holla, Maximilian E. R. Weiss, Rami Abou Jamra, Anne‐Karin Kahlert, Shivendra Kishore, Kristian Tveten, Melissa Vos, Arndt Rolfs, Katja Lohmann

    יצא לאור 2019
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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  15. 15
    RAB32 Ser71Arg in autosomal dominant Parkinson's disease: linkage, association, and functional analyses

    RAB32 Ser71Arg in autosomal dominant Parkinson's disease: linkage, association, and functional analyses מאת Emil K. 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, Joshua Shulman, Huw R. Morris, Manu Sharma, Ziv Gan‐Or, Bedia Samancı, Paweł Lis, María Teresa Periñán, Rim Amouri, Samia Ben Sassi, F. Hentati, Francesca Tonelli, Dario R. Alessi, Matthew J. Farrer

    יצא לאור 2024
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    Artigo
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  16. 16
    DNAJC13 mutations in Parkinson disease

    DNAJC13 mutations in Parkinson disease מאת Carles Vilariño‐Güell, Alex Rajput, Austen J. Milnerwood, Brinda Shah, Chelsea Szu‐Tu, Joanne Trinh, Irene Yu, Mary Joy Encarnacion, Lise N. Munsie, Lucı́a Tapia, Emil K. Gustavsson, Patrick Chou, Igor Tatarnikov, Daniel M. Evans, Frederick T. Pishotta, Mattia Volta, Dayne Beccano-Kelly, Christina Thompson, Michelle K. Lin, Holly E. Sherman, Heather Han, Bruce L. Guenther, Wyeth W. Wasserman, Virginie Bernard, Colin J.D. Ross, Silke Appel‐Cresswell, A. Jon Stoessl, Christopher A. Robinson, Dennis W. Dickson, Owen A. Ross, Zbigniew K. Wszołek, Jan Aasly, Ruey‐Meei Wu, Fayçal Hentati, Rachel A. Gibson, Peter S. McPherson, Martine Girard, Michele L. Rajput, Ali H. Rajput, Matthew J. Farrer

    יצא לאור 2013
    קבל טקסט מלא
    Artigo
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  17. 17
    Genomewide Association Studies of <scp><i>LRRK2</i></scp> Modifiers of Parkinson's Disease

    Genomewide Association Studies of <scp><i>LRRK2</i></scp> Modifiers of Parkinson's Disease מאת Dongbing Lai, Babak Alipanahi, Pierre Fontanillas, Tae‐Hwi Schwantes‐An, Jan Aasly, Roy N. Alcalay, Gary W. Beecham, Daniela Berg, Susan Bressman, Alexis Brice, Kathrin Brockman, Lorraine N. Clark, Mark Cookson, Sayantan Das, Vivianna M. Van Deerlin, Jordan Follett, Matthew J. Farrer, Joanne Trinh, Thomas Gasser, Stefano Goldwurm, Emil K. Gustavsson, Christine Klein, Anthony E. Lang, J. William Langston, Jeanne C. Latourelle, Timothy Lynch, Karen Marder, Connie Marras, Eden R. Martin, Cory Y. McLean, Helen Mejia‐Santana, Eric Molho, Richard H. Myers, Karen Nuytemans, Laurie J. Ozelius, Haydeh Payami, Deborah Raymond, Ekaterina Rogaeva, Michael P. Rogers, Owen A. Ross, Ali Samii, Rachel Saunders‐Pullman, Birgitt Schüle, Claudia Schulte, William K. Scott, Caroline M. Tanner, Eduardo Tolosa, James E. Tomkins, Dolores Vilas, John Q. Trojanowski, Ryan J. Uitti, Jeffery M. Vance, Naomi P. Visanji, Zbigniew K. Wszołek, Cyrus P. Zabetian, Anat Mirelman, Nir Giladi, Avi Orr Urtreger, P. F. Cannon, Brian Fiske, Tatiana Foroud

    יצא לאור 2021
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    Artigo
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  18. 18
    Defining the causes of sporadic Parkinson’s disease in the global Parkinson’s genetics program (GP2)

    Defining the causes of sporadic Parkinson’s disease in the global Parkinson’s genetics program (GP2) מאת Clodagh Towns, Madeleine Richer, Simona Jasaityte, Eleanor J. Stafford, Julie Joubert, Tarek Antar, Alejandro Martínez-Carrasco, Mary B. Makarious, Bradford Casey, Dan Vitale, Kristin Levine, Hampton L. Leonard, Caroline B. Pantazis, Laurel A. Screven, Dena Hernández, Claire Wegel, Justin Solle, Mike A. Nalls, Cornelis Blauwendraat, Andrew Singleton, Manuela Tan, Hirotaka Iwaki, Huw R. Morris, Emilia Gatto, Marcelo Kauffman, Samson Khachatryan, Zaruhi Tavadyan, Claire E. Shepherd, Julie Hunter, Kishore R. Kumar, Melina Ellis, Miguel E. Rentería, Sulev Kõks, Alexander Zimprich, Artur Francisco Schumacher Schuh, Carlos Roberto de Mello Rieder, Paula Saffie Awad, Vítor Tumas, Sarah Camargos, Edward A. Fon, Oury Monchi, Ted Fon, Benjamin Pizarro Galleguillos, Marcelo Miranda, M. Leonor Bustamante, Patricio Olguı́n, Pedro Chaná, Beisha Tang, Huifang Shang, Jifeng Guo, Piu Chan, Wei Luo, Gonzálo Arboleda, Jorge Orozco, Marlene Jiménez-Del-Río, Álvaro Hernández-Flores, Mohamed Salama, Walaa A. Kamel, Yared Z. Zewde, Alexis Brice, Jean‐Christophe Corvol, Ana Westenberger, Anastasia Illarionova, Brit Mollenhauer, Christine Klein, Eva‐Juliane Vollstedt, Franziska Hopfner, Günter U. Höglinger, Harutyun Madoev, Joanne Trinh, Johanna Junker, Katja Lohmann, Lara M. Lange, Manu Sharma, Sergiu Groppa, Thomas Gasser, Zih‐Hua Fang, Albert Akpalu, Georgia Xiromerisiou, Georgios Hadjigorgiou, Ioannis E. Dagklis, Ioannis Tarnanas, Leonidas Stefanis, María Stamelou, Efthymios Dadiotis, Alex Medina, Germaine Hiu-Fai Chan, Nancy Y. Ip, Nelson Yuk-Fai Cheung, Phillip Chan, Xiaopu Zhou, Asha Kishore, Divya KP, Pramod Kumar Pal, Prashanth Lingappa Kukkle, Roopa Rajan, Rupam Borgohain, Mehri Salari, Andrea Quattrone, Enza Maria Valente

    יצא לאור 2023
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    Artigo
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  19. 19
    Author Correction: Elucidating causative gene variants in hereditary Parkinson’s disease in the Global Parkinson’s Genetics Program (GP2)

    Author Correction: Elucidating causative gene variants in hereditary Parkinson’s disease in the Global Parkinson’s Genetics Program (GP2) מאת Lara M. Lange, Micol Avenali, Melina Ellis, Anastasia Illarionova, Ignacio Juan Keller Sarmiento, Ai Huey Tan, Harutyun Madoev, Caterina Galandra, Johanna Junker, Karisha Roopnarain, Justin Solle, Claire Wegel, Zih‐Hua Fang, Peter Heutink, Kishore R. Kumar, Shen‐Yang Lim, Enza Maria Valente, Mike A. Nalls, Cornelis Blauwendraat, Andrew Singleton, Niccolò E. Mencacci, Katja Lohmann, Christine Klein, Emilia Gatto, Marcelo Kauffman, Samson Khachatryan, Zaruhi Tavadyan, Claire E. Shepherd, Julie Hunter, Kishore R. Kumar, Melina Ellis, Miguel E. Rentería, Sulev Kõks, Alexander Zimprich, Artur Francisco Schumacher Schuh, Carlos Roberto de Mello Rieder, Paula Saffie Awad, Vítor Tumas, Sarah Camargos, Edward A. Fon, Oury Monchi, Ted Fon, Benjamin Pizarro Galleguillos, Marcelo Miranda, M. Leonor Bustamante, Patricio Olguı́n, Pedro Chaná, Beisha Tang, Huifang Shang, Jifeng Guo, Piu Chan, Wei Luo, Gonzálo Arboleda, Jorge Orozco, Marlene Jiménez-Del-Río, Alvaro G. Hernandez, Mohamed Salama, Walaa A. Kamel, Yared Z. Zewde, Alexis Brice, Jean‐Christophe Corvol, Ana Westenberger, Anastasia Illarionova, Brit Mollenhauer, Christine Klein, Eva‐Juliane Vollstedt, Franziska Hopfner, Günter U. Höglinger, Harutyun Madoev, Joanne Trinh, Johanna Junker, Katja Lohmann, Lara M. Lange, Manu Sharma, Sergiu Groppa, Thomas Gasser, Zih‐Hua Fang, Albert Akpalu, Georgia Xiromerisiou, Georgios Hadjigorgiou, Ioannis E. Dagklis, Ioannis Tarnanas, Leonidas Stefanis, María Stamelou, Efthymios Dadiotis, Alex Medina, Germaine Hiu-Fai Chan, Nancy Y. Ip, Nelson Yuk-Fai Cheung, Phillip Chan, Xiaopu Zhou, Asha Kishore, Divya KP, Pramod Kumar Pal, Prashanth Lingappa Kukkle, Roopa Rajan, Rupam Borgohain, Mehri Salari, Andrea Quattrone, Enza Maria Valente

    יצא לאור 2023
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    Errata/Corrigenda
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  20. 20
    The LRRK2 p.L1795F variant causes Parkinson’s disease in the European population

    The LRRK2 p.L1795F variant causes Parkinson’s disease in the European population מאת Lara M. Lange, Kristin Levine, Susan H. Fox, Connie Marras, Nazish Rafique, Nicole Kuznetsov, Dan Vitale, Hirotaka Iwaki, Katja Lohmann, Luca Marsili, Alberto J. Espay, Peter Bauer, Christian Beetz, Jessica Martin, Stewart A. Factor, Lenora A. Higginbotham, Honglei Chen, Hampton L. Leonard, Mike A. Nalls, Niccolò E. Mencacci, Huw R. Morris, Andrew Singleton, Christine Klein, Cornelis Blauwendraat, Zih‐Hua Fang, Emilia Gatto, Marcelo Kauffman, Samson Khachatryan, Zaruhi Tavadyan, Claire E. Shepherd, Julie Hunter, Kishore R. Kumar, Melina Ellis, Miguel E. Rentería, Sulev Kõks, Alexander Zimprich, Artur Francisco Schumacher Schuh, Carlos Roberto de Mello Rieder, Paula Saffie Awad, Vítor Tumas, Sarah Camargos, Edward A. Fon, Oury Monchi, Ted Fon, Benjamin Pizarro Galleguillos, Patricio Olguı́n, Marcelo Miranda, M. Leonor Bustamante, Pedro Chaná, Beisha Tang, Huifang Shang, Jifeng Guo, Piu Chan, Wei Luo, Gonzálo Arboleda, Jorge Orozco, Marlene Jiménez-Del-Río, Álvaro Hernández-Flores, Mohamed Salama, Walaa A. Kamel, Yared Z. Zewde, Alexis Brice, Jean‐Christophe Corvol, Ana Westenberger, Eva‐Juliane Vollstedt, Harutyun Madoev, Joanne Trinh, Johanna Junker, Anastasia Illarionova, Brit Mollenhauer, Franziska Hopfner, Günter U. Höglinger, Manu Sharma, Thomas Gasser, Sergiu Groppa, Albert Akpalu, Georgia Xiromerisiou, Georgios Hadjigorgiou, Efthymios Dadiotis, Ioannis E. Dagklis, Ioannis Tarnanas, Leonidas Stefanis, María Stamelou, Alex Medina, Germaine Hiu-Fai Chan, Nelson Yuk-Fai Cheung, Nancy Y. Ip, Phillip Chan, Xiaopu Zhou, Asha Kishore, Divya KP, Pramod Kr. Pal, Prashanth Lingappa Kukkle, Roopa Rajan, Rupam Borgohain, Mehri Salari, Andrea Quattrone, Monica Gagliardi, Enza Maria Valente, Micol Avenali

    יצא לאור 2025
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    Artigo
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