Resultados da pesquisa - Georgios Koutsis

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  1. 1
    High frequency of the expanded C9ORF72 hexanucleotide repeat in familial and sporadic Greek ALS patients

    High frequency of the expanded C9ORF72 hexanucleotide repeat in familial and sporadic Greek ALS patients Por Kin Y. Mok, Georgios Koutsis, Lucía Schottlaender, James M. Polke, Μάριος Πάνας, Henry Houlden

    Publicado em 2012
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  2. 2
    Hereditary spastic paraplegia in Greece: characterisation of a previously unexplored population using next-generation sequencing

    Hereditary spastic paraplegia in Greece: characterisation of a previously unexplored population using next-generation sequencing Por David S. Lynch, Georgios Koutsis, Arianna Tucci, Μάριος Πάνας, Markella Baklou, Marianthi Breza, Georgia Karadima, Henry Houlden

    Publicado em 2015
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  3. 3
    The <i>FGF14</i><scp>GAA</scp> repeat expansion in Greek patients with late‐onset cerebellar ataxia and an overview of the <scp>SCA27B</scp> phenotype across populations

    The <i>FGF14</i><scp>GAA</scp> repeat expansion in Greek patients with late‐onset cerebellar ataxia and an overview of the <scp>SCA27B</scp> phenotype across populations Por Chrisoula Kartanou, Alexandros Mitrousias, David Pellerin, Zoi Kontogeorgiou, Pablo Iruzubieta, Marie‐Josée Dicaire, Matt C. Danzi, Chrysoula Koniari, Konstantinos Athanassopoulos, Μάριος Πάνας, Leonidas Stefanis, Stephan Züchner, Bernard Brais, Henry Houlden, Georgia Karadima, Georgios Koutsis

    Publicado em 2024
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  4. 4
    Pure cerebellar ataxia due to bi‐allelic PRDX3 variants including recurring p.Asp202Asn

    Pure cerebellar ataxia due to bi‐allelic PRDX3 variants including recurring p.Asp202Asn Por Stéphanie Efthymiou, Luiz Eduardo Novis, Georgios Koutsis, Chrysoula Koniari, Reza Maroofian, Valentina Turchetti, Georgios Velonakis, Luiz Felipe Rocha Vasconcellos, Salmo Raskin, Varunvenkat M. Srinivasan, Alistair T. Pagnamenta, Yaramanchanahalli B. Arun, Uddhava V. Kinhal, Vykuntaraju K. Gowda, Hélio Afonso Ghizoni Teive, Henry Houlden

    Publicado em 2023
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  5. 5
    The novel p.<scp>A30G <i>SNCA</i></scp> pathogenic variant in Greek patients with familial and sporadic Parkinson's disease

    The novel p.<scp>A30G <i>SNCA</i></scp> pathogenic variant in Greek patients with familial and sporadic Parkinson's disease Por Ioanna Alefanti, Christos Koros, Viktoria Tsami, Athina Maria Simitsi, Chrisoula Kartanou, Nikolaos Papagiannakis, Maria Bozi, Roubina Antonelou, Matina Maniati, Ann‐Kathrin Hauser, Stefanos Varvaressos, Anastasios Bonakis, Konstantinos Lourentzos, Periklis Makrythanasis, Sokratis G. Papageorgiou, Christos Proukakis, Constantin Potagas, Thomas Gasser, Georgios Koutsis, Georgia Karadima, Leonidas Stefanis

    Publicado em 2025
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  6. 6
    DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases

    DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases Por Conceição Bettencourt, Davina J. Hensman Moss, Michael Flower, Sarah Wiethoff, Alexis Brice, Cyril Goizet, Giovanni Stévanin, Georgios Koutsis, Georgia Karadima, Μάριος Πάνας, Petra Yescas, Lizbeth García‐Velázquez, María Elisa Alonso‐Vilatela, Manuela Lima, Mafalda Raposo, Bryan J. Traynor, Mary G. Sweeney, Nicholas Wood, Paola Giunti, Alexandra Dürr, Peter Holmans, Henry Houlden, Sarah J. Tabrizi, Lesley Jones

    Publicado em 2016
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  7. 7
    Progression characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS): a 4-year cohort study

    Progression characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS): a 4-year cohort study Por Kathrin Reetz, Imis Dogan, R.-D Hilgers, Paola Giunti, Michael Parkinson, Caterina Mariotti, Lorenzo Nanetti, Alexandra Dürr, Claire Ewenczyk, Sylvia Boesch, Wolfgang Nachbauer, Thomas Klopstock, Claudia Stendel, Francisco Javier Rodríguez de Rivera Garrido, Christian Rummey, Lüdger Schöls, Stefanie N. Hayer, Thomas Klockgether, Ilaria Giordano, Claire Didszun, Myriam Rai, Massimo Pandolfo, Jörg B. Schulz, Robyn Labrum, Gilbert Thomas‐Black, Katarina Manso, Nita Solanky, Cinzia Gellera, Alessia Mongelli, Anna Castaldo, Mario Fichera, Francesc Palau, Mar O’Callaghan, Marie Biet, Marie Lorraine Monin, Andreas Eigentler, Elisabetta Indelicato, Matthias Amprosi, Florentine Radelfahr, A. Bischoff, Florian Holtbernd, Nikolina Brčina, Christian Hohenfeld, Georgios Koutsis, Marianthi Breza, Enrico Bertini, Gessica Vasco

    Publicado em 2021
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  8. 8
    Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants

    Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants Por Caroline Neuray, Reza Maroofian, Marcello Scala, Tipu Sultan, G. Shashidhar Pai, Majid Mojarrad, Heba El Khashab, Leigh deHoll, Wyatt W. Yue, Hessa S. Alsaif, M. Natalia Zanetti, Oscar D. Bello, Richard Person, Atieh Eslahi, Zaynab Khazaei, Masoumeh Heidari Feizabadi, Stéphanie Efthymiou, Stanislav Groppa, Blagovesta Marinova Karashova, Wolfgang Nachbauer, Sylvia Boesch, Larissa Arning, Dagmar Timmann, Bru Cormand, Belén Pérez‐Dueñas, Gabriella Di Rosa, Jatinder S. Goraya, Tipu Sultan, Jun Mine, Daniela Avdjieva, Hadil Kathom, Radka Tincheva, Selina Banu, Mercedes Pineda-Marfa, Pierangelo Veggiotti, Michel D. Ferrari, Alberto Verrotti, Gian Luigi Marseglia, Salvatore Savasta, Mayte García-Silva, Alfons Macaya Ruiz, Barbara Garavaglia, Eugenia Borgione, Simona Portaro, Benigno Monteagudo Sanchez, Richard G. Boles, Savvas Papacostas, Michail Vikelis, Eleni Zamba Papanicolaou, Efthimios Dardiotis, Shazia Maqbool, Shahnaz Ibrahim, Salman Kirmani, Nuzhat Rana, Osama Atawneh, Georgios Koutsis, Marianthi Breza, Salvatore Mangano, Carmela Scuderi, Eugenia Borgione, Giovanna Morello, Tanya Stojkovic, Massimi Zollo, Gali Heimer, Yves Dauvilliers, Pasquale Striano, Issam Al-Khawaja, Fuad Al-Mutairi, Sherifa A. Hamed, Hala T. El‐Bassyouni, Doaa Soliman, S. Tekeş, Leyla Özer, Volkan Baltacı, Suliman Khan, Christian Beetz, Khalda Amr, Vincenzo Salpietro, Yalda Jamshidi, Fowzan S. Alkuraya, Henry Houlden

    Publicado em 2020
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  9. 9
    Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification

    Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification Por Lucía Schottlaender, Rosella Abeti, Zane Jaunmuktane, Carol Macmillan, Viorica Chelban, Benjamin O’Callaghan, John McKinley, Reza Maroofian, Stéphanie Efthymiou, Alkyoni Athanasiou‐Fragkouli, Raeburn Forbes, Marc P. M. Soutar, John H. Livingston, Bernardett Kalmar, Orlando Swayne, Gary Hotton, Alan Pittman, João Ricardo Mendes de Oliveira, Maria De Grandis, Angela Richard-Loendt, Francesca Launchbury, Juri Althonayan, Gavin McDonnell, Aisling Carr, Suliman Khan, Christian Beetz, Atıl Bişgin, Sevcan Tuğ Bozdoğan, Amber Begtrup, Erin Torti, Linda Greensmith, Paola Giunti, Patrick J. Morrison, Sebastian Brandner, Michel Aurrand‐Lions, Henry Houlden, Stanislav Groppa, Blagovesta Marinova Karashova, Wolfgang Nachbauer, Sylvia Boesch, Larissa Arning, Dagmar Timmann, Bru Cormand, Belén Pérez‐Dueñas, Gabriella Di Rosa, Jatinder S. Goraya, Tipu Sultan, Jun Mine, Daniela Avdjieva, Hadil Kathom, Radka Tincheva, Selina Banu, Mercedes Pineda-Marfa, Pierangelo Veggiotti, Michel D. Ferrari, Alberto Verrotti, Gian Luigi Marseglia, Salvatore Savasta, Mayte García-Silva, Alfons Macaya Ruiz, Barbara Garavaglia, Eugenia Borgione, Simona Portaro, Benigno Monteagudo Sanchez, Richard G. Boles, Savvas Papacostas, Michail Vikelis, Eleni Zamba Papanicolaou, Efthimios Dardiotis, Shazia Maqbool, Shahnaz Ibrahim, Salman Kirmani, Nuzhat Rana, Osama Atawneh, Georgios Koutsis, Marianthi Breza, Salvatore Mangano, Carmela Scuderi, Eugenia Borgione, Giovanna Morello, Tanya Stojkovic, Massimi Zollo, Gali Heimer, Yves Dauvilliers, Pasquale Striano, Issam Al-Khawaja, Fuad Al-Mutairi, Sherifa A. Hamed

    Publicado em 2020
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  10. 10
    Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination

    Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination Por Stéphanie Efthymiou, Vincenzo Salpietro, Nancy T. Malintan, Mallory Poncelet, Yamna Kriouile, Sara Fortuna, Rita De Zorzi, Katelyn Payne, Lindsay B. Henderson, Andrea Cortese, Sateesh Maddirevula, Nadia Alhashmi, Sarah Wiethoff, Mina Ryten, Juan A. Botía, Vincenzo Provitera, Markus Schuelke, Jana Vandrovcová, Stanislav Groppa, Blagovesta Marinova Karashova, Wolfgang Nachbauer, Sylvia Boesch, Larissa Arning, Dagmar Timmann, Bru Cormand, Belén Pérez‐Dueñas, Jatinder S. Goraya, Tipu Sultan, Jun Mine, Daniela Avdjieva, Hadil Kathom, Radka Tincheva, Selina Banu, Mercedes Pineda-Marfa, Pierangelo Veggiotti, Michel D. Ferrari, Arn M. J. M. van den Maagdenberg, Alberto Verrotti, Gian Luigi Marseglia, Salvatore Savasta, Mayte García-Silva, Alfons Macaya Ruiz, Barbara Garavaglia, Eugenia Borgione, Simona Portaro, Benigno Monteagudo Sanchez, Richard G. Boles, Savvas Papacostas, Michail Vikelis, James E. Rothman, Dimitri M. Kullmann, Eleni Zamba Papanicolaou, Efthimios Dardiotis, Shazia Maqbool, Shahnaz Ibrahim, Salman Kirmani, Nuzhat Rana, Osama Atawneh, Shen‐Yang Lim, Mohd. Farooq Shaikh, Georgios Koutsis, Marianthi Breza, Salvatore Mangano, Carmela Scuderi, Eugenia Borgione, Giovanna Morello, Tanya Stojkovic, Massimo Zollo, Gali Heimer, Yves Dauvilliers, Carlo Minetti, Issam Al-Khawaja, Fuad Al-Mutairi, Sherifa A. Hamed, Menelaos Pipis, Conceição Bettencourt, Simon Rinaldi, Laurence E. Walsh, Erin Torti, Valeria Iodice, Maryam Najafi, Ehsan Ghayoor Karimiani, Reza Maroofian, Karine Siquier-Pernet, Nathalie Boddaert, Pascale de Lonlay, Vincent Cantagrel, M. Aguennouz, M. El Khorassani, Miriam Schmidts, Fowzan S. Alkuraya, Simon Edvardson, Maria Nolano, Jérôme Devaux, Henry Houlden

    Publicado em 2019
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