Resultats de la cerca - Sarah Wiethoff

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  1. 1
    Differential Influences of Emotion, Task, and Novelty on Brain Regions Underlying the Processing of Speech Melody

    Differential Influences of Emotion, Task, and Novelty on Brain Regions Underlying the Processing of Speech Melody per Thomas Ethofer, Benjamin Kreifelts, Sarah Wiethoff, Jonathan Wolf, Wolfgang Grodd, Patrik Vuilleumier, Dirk Wildgruber

    Publicat 2008
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  2. 2
    Neuropathology of Beta-propeller protein associated neurodegeneration (BPAN): a new tauopathy

    Neuropathology of Beta-propeller protein associated neurodegeneration (BPAN): a new tauopathy per Reema Paudel, A. Li, Sarah Wiethoff, Rina Bandopadhyay, Kailash P. Bhatia, R. de Silva, Henry Houlden, Janice L. Holton

    Publicat 2015
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  3. 3
    <i>ADCY5</i> mutations are another cause of benign hereditary chorea

    <i>ADCY5</i> mutations are another cause of benign hereditary chorea per Niccolò E. Mencacci, Roberto Erro, Sarah Wiethoff, Joshua Hersheson, Mina Ryten, Bettina Balint, Christos Ganos, María Stamelou, Niall Quinn, Henry Houlden, Nicholas Wood, Kailash P. Bhatia

    Publicat 2015
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  4. 4
    iPSC-derived neuronal models of PANK2-associated neurodegeneration reveal mitochondrial dysfunction contributing to early disease

    iPSC-derived neuronal models of PANK2-associated neurodegeneration reveal mitochondrial dysfunction contributing to early disease per Charles Arber, Plamena R. Angelova, Sarah Wiethoff, Yugo Tsuchiya, Francesca Mazzacuva, Elisavet Preza, Kailash P. Bhatia, Kevin Mills, Ivan Gout, Andrey Y. Abramov, John Hardy, James A. Duce, Henry Houlden, Selina Wray

    Publicat 2017
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  5. 5
    Defining diagnostic cutoffs in neurological patients for serum very long chain fatty acids (VLCFA) in genetically confirmed X-Adrenoleukodystrophy

    Defining diagnostic cutoffs in neurological patients for serum very long chain fatty acids (VLCFA) in genetically confirmed X-Adrenoleukodystrophy per Tim W. Rattay, Maren Rautenberg, Anne S. Söhn, Holger Hengel, Andreas Traschütz, Benjamin Röben, Stefanie N. Hayer, Rebecca Schüle, Sarah Wiethoff, Lena Zeltner, Tobias B. Haack, Alexander Čegan, Lüdger Schöls, Erwin Schleicher, Andreas Peter

    Publicat 2020
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  6. 6
    A loss-of-function homozygous mutation in <i>DDX59</i> implicates a conserved DEAD-box RNA helicase in nervous system development and function

    A loss-of-function homozygous mutation in <i>DDX59</i> implicates a conserved DEAD-box RNA helicase in nervous system development and function per Vincenzo Salpietro, Stéphanie Efthymiou, Andreea Manole, Bhawana Maurya, Sarah Wiethoff, Balasubramaniem Ashokkumar, Maria Concetta Cutrupi, Valeria Dipasquale, Sara Manti, Juan A. Botía, Mina Ryten, Jana Vandrovcová, Oscar D. Bello, Conceição Bettencourt, Kshitij Mankad, Ashim Mukherjee, Mousumi Mutsuddi, Henry Houlden

    Publicat 2017
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  7. 7
    Defects in the CAPN1 Gene Result in Alterations in Cerebellar Development and Cerebellar Ataxia in Mice and Humans

    Defects in the CAPN1 Gene Result in Alterations in Cerebellar Development and Cerebellar Ataxia in Mice and Humans per Yubin Wang, Joshua Hersheson, Dulce Lopez, Monia Hammer, Yan Liu, Ka-Hung Lee, Vanessa Carla Monteiro Pinto, Jeff Seinfeld, Sarah Wiethoff, Jiandong Sun, Rim Amouri, Fayçal Hentati, Neema Baudry, Jennifer Tran, Andrew B. Singleton, Marie Coutelier, Alexis Brice, Giovanni Stévanin, Alexandra Dürr, Xiaoning Bi, Henry Houlden, Michel Baudry

    Publicat 2016
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  8. 8
    Homozygous mutations in <scp><i>VAMP</i></scp><i>1</i> cause a presynaptic congenital myasthenic syndrome

    Homozygous mutations in <scp><i>VAMP</i></scp><i>1</i> cause a presynaptic congenital myasthenic syndrome per Vincenzo Salpietro, Weichun Lin, Andrea Delle Vedove, Markus Storbeck, Yun Liu, Stéphanie Efthymiou, Andreea Manole, Sarah Wiethoff, Qiaohong Ye, Anand Saggar, Kenneth McElreavey, Shyam S. Krishnakumar, Matthew Pitt, Oscar D. Bello, James E. Rothman, Lina Basel‐Vanagaite, Monika Weisz Hubshman, Sharon Aharoni, Adnan Y. Manzur, Brunhilde Wirth, Henry Houlden

    Publicat 2017
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  9. 9
    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 per 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

    Publicat 2016
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  10. 10
    Genetic and phenotypic characterization of complex hereditary spastic paraplegia

    Genetic and phenotypic characterization of complex hereditary spastic paraplegia per 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

    Publicat 2016
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  11. 11
    De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions

    De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions per Niccolò E. Mencacci, Erik-Jan Kamsteeg, Kosuke Nakashima, Lea R’Bibo, David S. Lynch, Bettina Balint, Michèl A.A.P. Willemsen, Matthew Adams, Sarah Wiethoff, Kazunori Suzuki, Ceri H. Davies, Joanne Ng, Esther Meyer, Liana Veneziano, Paola Giunti, Deborah Hughes, F. Lucy Raymond, Miryam Carecchio, Giovanna Zorzi, Nardo Nardocci, Chiara Barzaghi, Barbara Garavaglia, Vincenzo Salpietro, John Hardy, Alan Pittman, Henry Houlden, Manju A. Kurian, Haruhide Kimura, Lisenka E.L.M. Vissers, Nicholas Wood, Kailash P. Bhatia

    Publicat 2016
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  12. 12
    FAHN/SPG35: a narrow phenotypic spectrum across disease classifications

    FAHN/SPG35: a narrow phenotypic spectrum across disease classifications per Tim W. Rattay, Tobias Lindig, Jonathan Baets, Katrien Smets, Tine Deconinck, Anne S. Söhn, Konstanze Hörtnagel, Kathrin N. Eckstein, Sarah Wiethoff, Jennifer Reichbauer, Marion Döbler‐Neumann, Ingeborg Krägeloh‐Mann, Michaela Auer‐Grumbach, Barbara Plecko, Alexander Münchau, Bernd Wilken, Marc Janauschek, Anne‐Katrin Giese, Jan De Bleecker, Els Ortibus, Martine Debyser, Adolfo López de Munaín, Aurora Pujol, Maria Teresa Bassi, Maria Grazia D’Angelo, Peter De Jonghe, Stephan Züchner, Peter Bauer, Lüdger Schöls, Rebecca Schüle

    Publicat 2019
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  13. 13
    Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial

    Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial per Lüdger Schöls, Tim W. Rattay, Peter Martus, Christoph Meisner, Jonathan Baets, Imma Fischer, Christine Jägle, Matthew J. Fraidakis, Andrea Martinuzzi, Jonas Alex Morales Saute, Marina Scarlato, Antonella Antenora, Claudia Stendel, Philip Höflinger, Charles Marques Lourenço, Lisa Abreu, Katrien Smets, Martin Paucar, Tine Deconinck, Dana M. Bis‐Brewer, Sarah Wiethoff, Peter Bauer, Alessia Arnoldi, Wilson Marques, Laura Bannach Jardim, Stefan Hauser, Chiara Criscuolo, Alessandro Filla, Stephan Züchner, Maria Teresa Bassi, Thomas Klopstock, Peter De Jonghe, Ingemar Björkhem, Rebecca Schüle

    Publicat 2017
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  14. 14
    Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy

    Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy per Marianna Madeo, Michelle Stewart, Yuyang Sun, Nadia Sahir, Sarah Wiethoff, Indra Chandrasekar, Anna Yarrow, Jill A. Rosenfeld, Yaping Yang, Dawn Cordeiro, Elizabeth M. McCormick, Colleen Muraresku, Tyler Jepperson, Lauren McBeth, Mohammed Zain Seidahmed, Heba Y. El Khashab, Muddathir H. Hamad, Hamid Azzedine, Karl J. Clark, Silvia Corrochano, Sara Wells, Mariet W. Elting, Marjan M. Weiss, Sabrina C. Burn, Angela Myers, Megan Landsverk, Patricia L. Crotwell, Quinten Waisfisz, Nicole I. Wolf, Patrick M. Nolan, Sergio Padilla-López, Henry Houlden, Richard P. Lifton, Shrikant Mane, Brij B. Singh, Marni J. Falk, Saadet Mercimek‐Mahmutoglu, Kaya Bilgüvar, Mustafa A. Salih, Abraham Acevedo‐Arozena, Michael C. Kruer

    Publicat 2016
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  15. 15
    PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment

    PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment per Massimo Zollo, Momin Ahmed, Veronica Ferrucci, Vincenzo Salpietro, Fatemeh Asadzadeh, Marianeve Carotenuto, Reza Maroofian, Ahmed H. Al-Amri, Royana Singh, Iolanda Scognamiglio, Majid Mojarrad, Luca Musella, Angela Duilio, Angela Di Somma, Ender Karaca, Anna Rajab, Aisha Al‐Khayat, Tribhuvan Mohan Mohapatra, Atieh Eslahi, Farah Ashrafzadeh, Lettie E. Rawlins, Rajniti Prasad, Rashmi Gupta, Preeti Kumari, Mona Srivastava, Flora Cozzolino, K. Sunil, Maria Monti, Gaurav V. Harlalka, Michael A. Simpson, Philip Rich, Fatema Al-Salmi, Michael A. Patton, Barry A. Chioza, Stéphanie Efthymiou, Francesca Granata, Gabriella Di Rosa, Sarah Wiethoff, Eugenia Borgione, Carmela Scuderi, Kshitij Mankad, Michael G. Hanna, Piero Pucci, Henry Houlden, James R. Lupski, Andrew H. Crosby, Emma L. Baple

    Publicat 2017
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  16. 16
    The emerging spectrum of COVID-19 neurology: clinical, radiological and laboratory findings

    The emerging spectrum of COVID-19 neurology: clinical, radiological and laboratory findings per Ross W. Paterson, Rachel Brown, Laura Benjamin, Ross Nortley, Sarah Wiethoff, Tehmina Bharucha, Dipa Jayaseelan, Guru Kumar, Rhian Raftopoulos, L. Zambreanu, Vinojini Vivekanandam, Anthony Khoo, Ruth Geraldes, Krishna Chinthapalli, E Boyd, Hatice Tuzlalı, Gary Price, Gerry Christofi, Jasper M. Morrow, Patricia McNamara, Benjamin C. Mcloughlin, Soon Tjin Lim, Puja R. Mehta, Viva Levee, Stephen Keddie, Wisdom Yong, S. Anand Trip, Alexander Foulkes, Gary Hotton, Thomas D. Miller, Alex Everitt, Christopher Carswell, Nicholas Davies, Michael Yoong, David Attwell, Jemeen Sreedharan, Eli Silber, Jonathan M. Schott, Arvind Chandratheva, Richard Perry, Robert Simister, Anna M. Checkley, Nicky Longley, Simon F. Farmer, Francesco Carletti, Catherine Houlihan, Maria Thom, Michael P. Lunn, Jennifer Spillane, Robin Howard, Angela Vincent, David J. Werring, Chandrashekar Hoskote, Hans Rolf Jäger, Hadi Manji, Michael S. Zandi

    Publicat 2020
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  17. 17
    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... per 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

    Publicat 2020
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  18. 18
    Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination

    Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination per 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

    Publicat 2019
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  19. 19
    GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases

    GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases per Hellen Lesmann, Alexander Hustinx, Shahida Moosa, Hannah Klinkhammer, Elaine Marchi, Pilar Caro, Ibrahim M. Abdelrazek, Jean Tori Pantel, Merle ten Hagen, Meow‐Keong Thong, Rifhan Azwani Mazlan, Sok Kun Tae, Tom Kamphans, Wolfgang Meiswinkel, Jingmei Li, Behnam Javanmardi, Alexej Knaus, Annette Uwineza, Cordula Knopp, Tinatin Tkemaladze, Miriam Elbracht, Larissa Mattern, Rami Abou Jamra, Clara Velmans, Vincent Strehlow, Maureen Jacob, Angela Peron, Cristina Dias, Beatriz Nunes, Thainá Vilella, Isabel Furquim Pinheiro, Chong Ae Kim, Maria Isabel Melaragno, Hannah Weiland, Sophia Kaptain, Karolina Chwiałkowska, Mirosław Kwaśniewski, Ramy Saad, Sarah Wiethoff, Himanshu Goel, Clara Sze-Man Tang, Anna Hau, Tahsin Stefan Barakat, Przemysław Panek, Amira Nabil, Julia Suh, Frederik Braun, Israel Gomy, Luisa Averdunk, Ekanem N. Ekure, Gaber Bergant, Borut Peterlin, Claudio Graziano, Nagwa E. A. Gaboon, Moisés Ó. Fiesco-Roa, Alessandro Spinelli, Nina‐Maria Wilpert, Prasit Phowthongkum, Nergis Güzel, Tobias B. Haack, Rana Bitar, Andreas Tzschach, Agustí Rodríguez‐Palmero, Theresa Brunet, Sabine Rudnik–Schöneborn, Silvina Contreras‐Capetillo, Ava Oberlack, Carole Samango‐Sprouse, Teresa Sadeghin, Margaret Olaya, Konrad Platzer, Artem Borovikov, Franziska Schnabel, Lara Heuft, Vera Herrmann, Renske Oegema, Nour Elkhateeb, Sheetal Kumar, Katalin Komlósi, Khoushoua Mohamed, Silvia Kalantari, Fabio Sirchia, Antonio Federico Martínez‐Monseny, Matthias Höller, Louiza Toutouna, Amal Mohamed, Amaia Lasa‐Aranzasti, John A. Sayer, Nadja Ehmke, Magdalena Danyel, Henrike L. Sczakiel, Sarina Schwartzmann, Felix Boschann, Max Zhao, R. Adam, Lara Einicke, Denise Horn, Kee Seang Chew, Choy Chen Kam, Miray Karakoyun

    Publicat 2024
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