תוצאות חיפוש - Katy Barwick

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  1. 1
    An Update on the Phenotype, Genotype and Neurobiology of <scp>ADCY5‐Related</scp> Disease

    An Update on the Phenotype, Genotype and Neurobiology of <scp>ADCY5‐Related</scp> Disease מאת Arianna Ferrini, Dora Steel, Katy Barwick, Manju A. Kurian

    יצא לאור 2021
    קבל טקסט מלא קבל טקסט מלא
    Revisão
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  2. 2
    Defective Presynaptic Choline Transport Underlies Hereditary Motor Neuropathy

    Defective Presynaptic Choline Transport Underlies Hereditary Motor Neuropathy מאת Katy Barwick, Jane Wright, Saeed Al-Turki, Meriel M. McEntagart, Ajith Nair, Barry A. Chioza, A. Al‐Memar, Hamid Modarres, Mary M. Reilly, Katherine Dick, Alicia M. Ruggiero, Randy Blakely, Matt Hurles, Andrew H. Crosby

    יצא לאור 2012
    קבל טקסט מלא
    Artigo
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  3. 3
    Neurodevelopmental and synaptic defects in <i>DNAJC6</i> parkinsonism, amenable to gene therapy

    Neurodevelopmental and synaptic defects in <i>DNAJC6</i> parkinsonism, amenable to gene therapy מאת Lucia Abela, Lorita Gianfrancesco, Erica Tagliatti, Giada Rossignoli, Katy Barwick, Clara Zourray, Kimberley M. Reid, Dimitri Budinger, Joanne Ng, John R. Counsell, Arlo Simpson, Toni S. Pearson, Simon Edvardson, Orly Elpeleg, Frances M. Brodsky, Gabriele Lignani, Serena Barral, Manju A. Kurian

    יצא לאור 2024
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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  4. 4
    Mutations in KPTN Cause Macrocephaly, Neurodevelopmental Delay, and Seizures

    Mutations in KPTN Cause Macrocephaly, Neurodevelopmental Delay, and Seizures מאת Emma L. Baple, Reza Maroofian, Barry A. Chioza, Maryam Izadi, Harold E. Cross, Saeed Al-Turki, Katy Barwick, Anna E. Skrzypiec, Robert Pawlak, Karin Wagner, Roselyn Coblentz, Tala Zainy, Michael A. Patton, Sahar Mansour, Phillip Rich, Britta Qualmann, Matt Hurles, Michael M. Kessels, Andrew H. Crosby

    יצא לאור 2013
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    Artigo
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  5. 5
    The Phenotypic Continuum of <i>ATP1A3</i> -Related Disorders

    The Phenotypic Continuum of <i>ATP1A3</i> -Related Disorders מאת Aikaterini Vezyroglou, Rhoda Akilapa, Katy Barwick, Saskia Koene, Catherine A. Brownstein, Muriel Holder‐Espinasse, Andrew E. Fry, Andrea H. Németh, George K. Tofaris, Eleanor Hay, Imelda Hughes, Sahar Mansour, Santosh Mordekar, Miranda Splitt, Peter D. Turnpenny, D.Z. Demetriou, Tamara T. Koopmann, Claudia Ruivenkamp, Pankaj B. Agrawal, Lucinda Carr, Virginia Clowes, Neeti Ghali, Susan Holder, Jessica A. Radley, Alison Male, Sanjay M. Sisodiya, Manju A. Kurian, J. Helen Cross, Meena Balasubramanian

    יצא לאור 2022
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    Revisão
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  6. 6
    Loss‐of‐Function Variants in <scp>HOPS</scp> Complex Genes <scp><i>VPS16</i></scp> and <scp><i>VPS41</i></scp> Cause Early Onset Dystonia Associated with Lysosomal Abnormalities

    Loss‐of‐Function Variants in <scp>HOPS</scp> Complex Genes <scp><i>VPS16</i></scp> and <scp><i>VPS41</i></scp> Cause Early Onset Dystonia Associated with Lysosomal Abnormalities... מאת Dora Steel, Michael Zech, Chen Zhao, Katy Barwick, Derek Burke, Diane Demailly, Kishore R. Kumar, Giovanna Zorzi, Nardo Nardocci, Rauan Kaiyrzhanov, Matias Wagner, Arcangela Iuso, Riccardo Berutti, Matěj Škorvánek, Ján Necpál, Ryan L. Davis, Sarah Wiethoff, Kshitij Mankad, Sniya Sudhakar, Arianna Ferrini, Suvasini Sharma, Erik‐Jan Kamsteeg, Marina A.J. Tijssen, Corien Verschuuren, Martje E. van Egmond, Joanna M. Flowers, Meriel McEntagart, Arianna Tucci, Philippe Coubes, Bernabé I. Bustos, Paulina González-Latapí, Stephen Tisch, Paul Darveniza, Kathleen M. Gorman, Kathryn J. Peall, Kai Bötzel, Jan Christoph Koch, Tomasz Kmieć, Barbara Plecko, Sylvia Boesch, Bernhard Haslinger, Robert Jech, Barbara Garavaglia, Nicholas Wood, Henry Houlden, Paul Gissen, Steven Lubbe, Carolyn M. Sue, Laura Cif, Niccolò E. Mencacci, Glenn Anderson, Manju A. Kurian, Juliane Winkelmann

    יצא לאור 2020
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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  7. 7
    De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy

    De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy מאת Chiara Klöckner, Heinrich Sticht, Pia Zacher, Bernt Popp, Holly E. Babcock, Dewi P. Bakker, Katy Barwick, Michaela Bonfert, Carsten G. Bönnemann, Eva H. Brilstra, Wendy K. Chung, Angus Clarke, Patrick Devine, Sandra Donkervoort, Jamie L. Fraser, Jennifer Friedman, Alyssa Gates, Jamal Ghoumid, Emma Hobson, Gabriella Horváth, Jennifer Keller‐Ramey, Boris Keren, Manju A. Kurian, Virgina Lee, Kathleen A. Leppig, Johan Lundgren, Marie McDonald, Heather M. McLaughlin, Amy McTague, Heather C. Mefford, Cyril Mignot, Mohamad A. Mikati, Caroline Nava, F. Lucy Raymond, Julian R. Sampson, Alba Sanchis-Juan, Vandana Shashi, Joseph T.C. Shieh, Marwan Shinawi, Anne Slavotinek, Tommy Stödberg, Nicholas Stong, Jennifer A. Sullivan, Ashley C. Taylor, Tomi L. Toler, Marie-José van den Boogaard, Saskia N. van der Crabben, Koen L.I. van Gassen, Richard H. van Jaarsveld, Jessica Van Ziffle, Alexandrea Wadley, Matias Wagner, Kristen Wigby, Saskia B. Wortmann, Yuri A. Zárate, Rikke S. Møller, Johannes R. Lemke, Konrad Platzer

    יצא לאור 2020
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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  8. 8
    <i>KMT2B</i>-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation

    <i>KMT2B</i>-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation מאת Laura Cif, Diane Demailly, Jean‐Pierre Lin, Katy Barwick, Mario Sa, Lucia Abela, Sony Malhotra, W.K. Chong, Dora Steel, Alba Sanchis-Juan, Adeline Ngoh, Natalie Trump, Esther Meyer, Xavier Vasques, Julia Rankin, Meredith W Allain, Carolyn Applegate, Sanaz Attaripour Isfahani, Julien Baleine, Bettina Balint, Jennifer A. Bassetti, Emma L. Baple, Kailash P. Bhatia, Catherine Blanchet, Lydie Bürglen, Gilles Cambonie, Emilie Chan Seng, Sandra Chantot‐Bastaraud, Fabienne Cyprien, Christine Coubes, Vincent d’Hardemare, Asif Doja, Nathalie Dorison, Diane Doummar, Marisela Dy-Hollins, Ellyn Farrelly, David Fitzpatrick, Conor Fearon, Elizabeth L. Fieg, Brent L. Fogel, Eva Forman, Rachel Fox, William A. Gahl, Serena Galosi, Victoria González, Tracey D. Graves, Allison Gregory, Mark Hallett, Harutomo Hasegawa, Susan J. Hayflick, Ada Hamosh, Marie Hully, Sandra Jansen, Suh Young Jeong, Joel B. Krier, Sidney Krystal, Kishore R. Kumar, Chloé Laurencin, Hane Lee, Gaëtan Lesca, Laurence Lion François, Timothy Lynch, Neil Mahant, Julián A. Martínez-Agosto, Christophe Milési, Kelly A. Mills, M. Mondain, Hugo Morales‐Briceño, John R. Østergaard, Swasti Pal, J. Carl Pallais, Frédérique Pavillard, Pierre-Francois Perrigault, Andrea Petersen, Gustavo Polo, Gaëtan Poulen, Tuula Rinne, Thomas Roujeau, Caleb Rogers, Agathe Roubertie, Michelle Sahagian, Élise Schaefer, Laila Selim, Richard Selway, Nutan Sharma, Rebecca Signer, Ariane Soldatos, David A. Stevenson, Fiona Stewart, Michel Tchan, Ishwar C. Verma, Bert B A de Vries, Jenny L. Wilson, Derek A. Wong, Raghda Mohamed Hesham Zaitoun, Dolly Zhen, Anna Znaczko, Russell C. Dale, Claudio M. de Gusmão, Jennifer Friedman

    יצא לאור 2020
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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