Výsledky vyhledávání - Lucía Schottlaender

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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 Autor Kin Y. Mok, Georgios Koutsis, Lucía Schottlaender, James M. Polke, Μάριος Πάνας, Henry Houlden

    Vydáno 2012
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  2. 2
    Deconstructing Fahr's disease/syndrome of brain calcification in the era of new genes

    Deconstructing Fahr's disease/syndrome of brain calcification in the era of new genes Autor Amit Batla, Xin You Tai, Lucía Schottlaender, Roberto Erro, Bettina Balint, Kailash P. Bhatia

    Vydáno 2016
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  3. 3
    Coenzyme Q10 Levels Are Decreased in the Cerebellum of Multiple-System Atrophy Patients

    Coenzyme Q10 Levels Are Decreased in the Cerebellum of Multiple-System Atrophy Patients Autor Lucía Schottlaender, Conceição Bettencourt, Aoife P. Kiely, Annapurna Chalasani, Viruna Neergheen, Janice L. Holton, Iain P. Hargreaves, Henry Houlden

    Vydáno 2016
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  4. 4
    Variable Presentations of Postpartum Angiopathy

    Variable Presentations of Postpartum Angiopathy Autor Jennifer E. Fugate, Sebastián F. Ameriso, Gustavo Ortiz, Lucía Schottlaender, Eelco F. M. Wijdicks, Kelly D. Flemming, Alejandro A. Rabinstein

    Vydáno 2012
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  5. 5
    Investigation of somatic CNVs in brains of synucleinopathy cases using targeted SNCA analysis and single cell sequencing

    Investigation of somatic CNVs in brains of synucleinopathy cases using targeted SNCA analysis and single cell sequencing Autor Diego Pérez‐Rodríguez, Maria Kalyva, Melissa Leija‐Salazar, Tammaryn Lashley, Maxime Tarabichi, Viorica Chelban, Steve Gentleman, Lucía Schottlaender, Hannah Franklin, George Vasmatzis, Henry Houlden, Anthony H.V. Schapira, Thomas T. Warner, Janice L. Holton, Zane Jaunmuktane, Christos Proukakis

    Vydáno 2019
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  6. 6
    The analysis of C9orf72 repeat expansions in a large series of clinically and pathologically diagnosed cases with atypical parkinsonism

    The analysis of C9orf72 repeat expansions in a large series of clinically and pathologically diagnosed cases with atypical parkinsonism Autor Lucía Schottlaender, James M. Polke, Helen Ling, Nicola D. MacDoanld, Arianna Tucci, Tina Nanji, Alan Pittman, Rohan de Silva, Janice L. Holton, Tamás Révész, Mary G. Sweeney, Andy Singleton, Andrew J. Lees, Kailash P. Bhatia, Henry Houlden

    Vydáno 2014
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  7. 7
    Mutations in GBA2 Cause Autosomal-Recessive Cerebellar Ataxia with Spasticity

    Mutations in GBA2 Cause Autosomal-Recessive Cerebellar Ataxia with Spasticity Autor Monia Hammer, Ghada Eleuch-Fayache, Lucía Schottlaender, Houda Nehdi, J. Raphael Gibbs, Sampath K. Arepalli, Sean Chong, Dena Hernández, Anna Sailer, Guoxiang Liu, Pramod K. Mistry, Huaibin Cai, Ginamarie Shrader, Celeste Sassi, Yosr Bouhlal, Henry Houlden, Fayçal Hentati, Rim Amouri, Andrew B. Singleton

    Vydáno 2013
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  8. 8
    Genetic Analysis of Inherited Leukodystrophies

    Genetic Analysis of Inherited Leukodystrophies Autor Rita Guerreiro, Eleanna Kara, Isabelle Le Ber, José Brás, Jonathan D. Rohrer, Ricardo Taipa, Tammaryn Lashley, Céline Dupuits, Nicole Gurunlian, Fanny Mochel, Jason D. Warren, Didier Hannequin, Frédéric Sedel, Christel Depienne, Agnès Camuzat, Véronique Golfier, Foucaud Du Boisguéheneuc, Lucía Schottlaender, Nick C. Fox, Jonathan Beck, Simon Mead, Martin N. Rossor, John Hardy, Tamás Révész, Alexis Brice, Henry Houlden

    Vydáno 2013
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  9. 9
    Genetic and phenotypic characterization of complex hereditary spastic paraplegia

    Genetic and phenotypic characterization of complex hereditary spastic paraplegia Autor Eleanna Kara, Arianna Tucci, Claudia Manzoni, David S. Lynch, Marilena Elpidorou, Conceição Bettencourt, Viorica Chelban, Andreea Manole, Sherifa A. Hamed, Nourelhoda A. Haridy, Monica Federoff, Elisavet Preza, Deborah Hughes, Alan Pittman, Zane Jaunmuktane, Sebastian Brandner, Georgia Xiromerisiou, Sarah Wiethoff, Lucía Schottlaender, Christos Proukakis, Huw R. Morris, Thomas T. Warner, Kailash P. Bhatia, L.V. Prasad Korlipara, Andrew Singleton, John Hardy, Nicholas Wood, Patrick A. Lewis, Henry Houlden

    Vydáno 2016
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  10. 10
    <i>LRRK2</i> exonic variants and risk of multiple system atrophy

    <i>LRRK2</i> exonic variants and risk of multiple system atrophy Autor Michael G. Heckman, Lucía Schottlaender, Alexandra I. Soto‐Ortolaza, Nancy N. Diehl, Sruti Rayaprolu, Kotaro Ogaki, Shinsuke Fujioka, Melissa E. Murray, William P. Cheshire, Ryan J. Uitti, Zbigniew K. Wszołek, Matthew J. Farrer, Anna Sailer, Andrew Singleton, Patrick F. Chinnery, Michael J. Keogh, Steve Gentleman, Janice L. Holton, Kiely Aoife, David M. A. Mann, Safa Al‐Sarraj, Claire Troakes, Dennis W. Dickson, Henry Houlden, Owen A. Ross

    Vydáno 2014
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  11. 11
    A genome-wide association study in multiple system atrophy

    A genome-wide association study in multiple system atrophy Autor Anna Sailer, Sonja W. Scholz, Michael A. Nalls, Claudia Schulte, Monica Federoff, T. Ryan Price, Andrew J. Lees, Owen A. Ross, Dennis W. Dickson, Kin Y. Mok, Niccolò E. Mencacci, Lucía Schottlaender, Viorica Chelban, Helen Ling, Sean S. O’Sullivan, Nicholas Wood, Bryan J. Traynor, Luigi Ferrucci, Howard J. Federoff, Timothy R. Mhyre, Huw R. Morris, Günther Deuschl, Niall Quinn, Håkan Widner, Alberto Albanese, Jon Infante, Kailash P. Bhatia, Werner Poewe, Wolfgang H. Oertel, Günter U. Höglinger, Ullrich Wüllner, Stefano Goldwurm, Maria Teresa Pellecchia, Joaquim J. Ferreira, Eduardo Tolosa, Bastiaan R. Bloem, Olivier Rascol, Wassilios G. Meissner, John Hardy, Tamás Révész, Janice L. Holton, Thomas Gasser, Gregor K. Wenning, Andrew Singleton, Henry Houlden, Giovanna Calandra‐Buonaura, Sabina Capellari, Pietro Cortelli

    Vydáno 2016
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  12. 12
    Biallelic NAA60 variants with impaired N-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications

    Biallelic NAA60 variants with impaired N-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications Autor Viorica Chelban, Henriette Aksnes, Reza Maroofian, Lauren C. LaMonica, Luís Seabra, Anette Siggervåg, Perrine Devic, Hanan E. Shamseldin, Jana Vandrovcová, David Murphy, Anne‐Claire Richard, Olivier Quenez, Antoine Bonnevalle, M. Natalia Zanetti, Rauan Kaiyrzhanov, Vincenzo Salpietro, Stéphanie Efthymiou, Lucía Schottlaender, Heba Morsy, Annarita Scardamaglia, Gerome Breen, Alistair T. Pagnamenta, Ajia Pennavaria, Liv S Krogstad, Åse K. Bekkelund, Alessia Caiella, Nina Glomnes, Kirsten Brønstad, Sandrine Tury, Andrés Moreno-De-Luca, Anne Boland, Robert Olaso, Jean‐François Deleuze, Mathieu Anheim, Benjamin Cretin, Barbara Vona, Fahad Al-Ajlan, Firdous Abdulwahab, Jean‐Luc Battini, Rojan İpek, Peter Bauer, Giovanni Zifarelli, Serdal Güngör, Semra Hız Kurul, Hanns Lochmüller, Sahar I. Da’as, Khalid A. Fakhro, Alicia Gómez-Pascual, Juan A. Botía, Nicholas Wood, Rita Horváth, Andreas M. Ernst, James E. Rothman, Meriel McEntagart, Yanick J. Crow, Fowzan S. Alkuraya, Gaël Nicolas, Thomas Arnesen, Henry Houlden

    Vydáno 2024
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  13. 13
    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 Autor 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

    Vydáno 2020
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