תוצאות חיפוש - Harutyun Madoev

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  1. 1
    Updated MDSGene review on the clinical and genetic spectrum of LRRK2 variants in Parkinson´s disease

    Updated MDSGene review on the clinical and genetic spectrum of LRRK2 variants in Parkinson´s disease מאת Cleusa Adriane Menegassi Bianchi Krüger, Shen‐Yang Lim, Alissa Buhrmann, Fenja L. Fahrig, Carolin Gabbert, Natascha Bahr, Harutyun Madoev, Connie Marras, Christine Klein, Katja Lohmann

    יצא לאור 2025
    קבל טקסט מלא
    Artigo
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  2. 2
    Genotype–Phenotype Relations in Primary Familial Brain Calcification: Systematic <scp>MDSGene</scp> Review

    Genotype–Phenotype Relations in Primary Familial Brain Calcification: Systematic <scp>MDSGene</scp> Review מאת Alexander Balck, Susen Schaake, Neele Kuhnke, Aloysius Domingo, Harutyun Madoev, Jason Margolesky, Valerija Dobričić, Daniel Alvarez‐Fischer, Björn‐Hergen Laabs, Meike Kasten, Wei Luo, Gaël Nicolas, Connie Marras, Katja Lohmann, Christine Klein, Ana Westenberger

    יצא לאור 2021
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    Revisão
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  3. 3
    Genotype–Phenotype Relations for Isolated Dystonia Genes: <scp>MDSGene</scp> Systematic Review

    Genotype–Phenotype Relations for Isolated Dystonia Genes: <scp>MDSGene</scp> Systematic Review מאת Lara M. Lange, Johanna Junker, Sebastian Loens, H. Baumann, Luisa Olschewski, Susen Schaake, Harutyun Madoev, Sonja Petkovic, Neele Kuhnke, Meike Kasten, Ana Westenberger, Aloysius Domingo, Connie Marras, Inke R. König, Sarah Camargos, Laurie J. Ozelius, Christine Klein, Katja Lohmann

    יצא לאור 2021
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  4. 4
    Classification and Genotype–Phenotype Relationships of <scp><i>GBA1</i></scp> Variants: <scp>MDSGene</scp> Systematic Review

    Classification and Genotype–Phenotype Relationships of <scp><i>GBA1</i></scp> Variants: <scp>MDSGene</scp> Systematic Review מאת Malco Rossi, Susen Schaake, Tatiana Usnich, Johann Boehm, Nicholas R. Steffen, Nathalie Schell, Cleusa Adriane Menegassi Bianchi Krüger, Tuğçe Gül-Demirkale, Natascha Bahr, Teresa Kleinz, Harutyun Madoev, Björn‐Hergen Laabs, Ziv Gan‐Or, Roy N. Alcalay, Katja Lohmann, Christine Klein

    יצא לאור 2025
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    Revisão
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  5. 5
    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
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    Revisão
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  6. 6
    Global Perspectives on Returning Genetic Research Results in Parkinson's Disease

    Global Perspectives on Returning Genetic Research Results in Parkinson's Disease מאת Ai Huey Tan, Paula Saffie Awad, Artur Francisco Schumacher Schuh, Shen‐Yang Lim, Harutyun Madoev, Azlina Ahmad, Justin Solle, Claire Wegel, Maria Leila M. Doquenia, Sumit Dey, María Teresa Periñán, Mary B. Makarious, Brian P. Fiske, Huw R. Morris, Alastair Noyce, Roy N. Alcalay, Kishore R. Kumar, Christine Klein

    יצא לאור 2024
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    Pré-impressão
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  7. 7
    Elucidating causative gene variants in hereditary Parkinson’s disease in the Global Parkinson’s Genetics Program (GP2)

    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

    יצא לאור 2023
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    Artigo
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  8. 8
    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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  9. 9
    Establishing an online resource to facilitate global collaboration and inclusion of underrepresented populations: Experience from the MJFF Global Genetic Parkinson’s Disease Project

    Establishing an online resource to facilitate global collaboration and inclusion of underrepresented populations: Experience from the MJFF Global Genetic Parkinson’s Disease Projec... מאת Eva‐Juliane Vollstedt, Harutyun Madoev, Anna Aasly, Azlina Ahmad‐Annuar, Bashayer Al‐Mubarak, Roy N. Alcalay, Victoria Álvarez, Ignacio Amorín, Grazia Annesi, David Arkadir, Soraya Bardien, Roger A. Barker, Melinda Barkhuizen, A. Nazlı Başak, Vincenzo Bonifati, Agnita J.W. Boon, Laura Brighina, Kathrin Brockmann, Andrea Carmine Belin, Jonathan Carr, Jordi Clarimón, Mario Cornejo‐Olivas, Leonor Correia Guedes, Jean‐Christophe Corvol, David Crosiers, Joana Damásio, Parimal Das, Patrícia de Carvalho Aguiar, Anna De Rosa, Jolanta Dorszewska, Sibel Ertan, Rosangela Ferese, Joaquim J. Ferreira, Emilia Gatto, Gençer Genç, Nir Giladi, Pilar Gómez‐Garre, Haşmet Hanağası, Nobutaka Hattori, Fayçal Hentati, Dorota Hoffman‐Zacharska, С. Н. Иллариошкин, Joseph Jankovic, Silvia Jesús, Valtteri Kaasinen, Anneke J.A. Kievit, Péter Klivényi, Vladimir Kostić, Dariusz Koziorowski, Andrea A. Kühn, Anthony E. Lang, Shen‐Yang Lim, Chin‐Hsien Lin, Katja Lohmann, Vladana Marković, Mika H. Martikainen, George D. Mellick, Marcelo Merello, Łukasz Milanowski, Pablo Mir, Özgür Öztop Çakmak, Márcia Mattos Gonçalves Pimentel, Teeratorn Pulkes, Andreas Puschmann, Ekaterina Rogaeva, Esther Sammler, Maria Skaalum Petersen, Matěj Škorvánek, Mariana Spitz, Oksana Suchowersky, Ai Huey Tan, Pichet Termsarasab, Avner Thaler, Vítor Tumas, Enza Maria Valente, Bart P.C. van de Warrenburg, Caroline H. Williams‐Gray, Ruey-Mei Wu, Baorong Zhang, Alexander Zimprich, Justin Solle, Shalini Padmanabhan, Christine Klein

    יצא לאור 2023
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    Revisão
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  10. 10
    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
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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  11. 11
    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
    קבל טקסט מלא
    Artigo
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