Resultats de la cerca - Ian Andrews

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  1. 1
    Incidence and Natural History of Pediatric Large Vessel Occlusion Stroke

    Incidence and Natural History of Pediatric Large Vessel Occlusion Stroke per Kartik Bhatia, Romain Briest, Robert Goetti, Richard Webster, Christopher Troedson, Russell C. Dale, Prakash Muthusami, Christina Miteff, Ferdinand Miteff, John Worthington, Kylie Tastula, Timothy Ang, Ian Andrews

    Publicat 2022
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  2. 2
    <i>PRRT2</i> phenotypic spectrum includes sporadic and fever-related infantile seizures

    <i>PRRT2</i> phenotypic spectrum includes sporadic and fever-related infantile seizures per Ingrid E. Scheffer, Bronwyn E. Grinton, Sarah E. Heron, Sara Kivity, Zaid Afawi, Xenia Iona, Hadassa Goldberg‐Stern, Maria Kinali, Ian Andrews, Renzo Guerrini, Carla Marini, Lynette G. Sadleir, Samuel F. Berkovic, Leanne M. Dibbens

    Publicat 2012
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  3. 3
    Clinical Characteristics and Functional Motor Outcomes of Enterovirus 71 Neurological Disease in Children

    Clinical Characteristics and Functional Motor Outcomes of Enterovirus 71 Neurological Disease in Children per Hooi-Ling Teoh, Shekeeb S. Mohammad, Philip N Britton, Tejaswi Kandula, Michelle Lorentzos, Robert Booy, Cheryl Jones, William D. Rawlinson, Vidiya Ramachandran, Michael L. Rodriguez, P. Ian Andrews, Russell C. Dale, Michelle A. Farrar, Hugo Sampaio

    Publicat 2016
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  4. 4
    Australian Clinical Consensus Guideline: The diagnosis and acute management of childhood stroke

    Australian Clinical Consensus Guideline: The diagnosis and acute management of childhood stroke per Tanya L. Medley, Christina Miteff, Ian Andrews, Tyson L. Ware, Michael Cheung, Paul Monagle, Simone Mandelstam, Alison Wray, Clair Pridmore, Christopher Troedson, Russell C. Dale, Michael Fahey, Adriane Sinclair, Peter Walsh, Belinda Stojanovski, Mark T. Mackay

    Publicat 2018
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  5. 5
    Association Between Thrombectomy and Functional Outcomes in Pediatric Patients With Acute Ischemic Stroke From Large Vessel Occlusion

    Association Between Thrombectomy and Functional Outcomes in Pediatric Patients With Acute Ischemic Stroke From Large Vessel Occlusion per Kartik Bhatia, Samyami Sangeeta Chowdhury, Ian Andrews, Robert Goetti, Richard Webster, Christopher Troedson, Russell C. Dale, Prakash Muthusami, Carmen Parra‐Farinas, Nomazulu Dlamini, Mahendra Moharir, Christina Miteff, Ferdinand Miteff, John Worthington, Kylie Tastula, Timothy Ang, Romain Briest, Elizabeth Pulcine

    Publicat 2023
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  6. 6
    <scp>CSF</scp> neopterin and quinolinic acid are biomarkers of neuroinflammation and neurotoxicity in <scp>FIRES</scp> and other infection‐triggered encephalopathy syndromes

    <scp>CSF</scp> neopterin and quinolinic acid are biomarkers of neuroinflammation and neurotoxicity in <scp>FIRES</scp> and other infection‐triggered encephalopathy syndromes per Russell C. Dale, Terrence Thomas, Shrujna Patel, Velda X. Han, Kavitha Kothur, Christopher Troedson, Sachin Gupta, Deepak Gill, Stephen Malone, Michaela Waak, Sophie Calvert, Gopinath Subramanian, P Ian Andrews, Tejaswi Kandula, Manoj P. Menezes, Simone Ardern‐Holmes, Shekeeb S. Mohammad, Sushil Bandodkar, Jingya Yan

    Publicat 2023
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  7. 7
    Delayed diagnosis of congenital myasthenia due to associated mitochondrial enzyme defect

    Delayed diagnosis of congenital myasthenia due to associated mitochondrial enzyme defect per Guo, Yiran, Menezes, Minal, Menezes, Manoj, Liang, Jinlong, Li, Dong, Riley, Lisa G, Clarke, Nigel F, Ian Andrews, P., Tian, Lifeng, Webster, Richard, Wang, Fengxiang, Liu, Xuanzhu, Shen, Yulan, Thorburn, David R, Keating, Brendan J, Engel, Andrew, Hakonarson, Hakon, Christodoulou, John, Xu, Xun

    Publicat 2014
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  8. 8
    Rare copy number variants are an important cause of epileptic encephalopathies

    Rare copy number variants are an important cause of epileptic encephalopathies per Heather C. Mefford, Simone C. Yendle, Cynthia L. Hsu, Joseph Cook, Eileen Geraghty, Jacinta M. McMahon, Orvar Eeg‐Olofsson, Lynette G. Sadleir, Deepak Gill, Bruria Ben‐Zeev, Tally Lerman‐Sagie, Mark T. Mackay, Jeremy L. Freeman, Eva Andermann, James T. Pelakanos, Ian Andrews, Geoffrey Wallace, Evan E. Eichler, Samuel F. Berkovic, Ingrid E. Scheffer

    Publicat 2011
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  9. 9
    Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness

    Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness per Elizabeth E. Palmer, Deborah Schofield, Rupendra Shrestha, Tejaswi Kandula, Rebecca Macintosh, John A. Lawson, Ian Andrews, Hugo Sampaio, Alexandra Johnson, Michelle A. Farrar, Michael Cardamone, David Mowat, George Elakis, William Lo, Ying Zhu, Kevin Ying, Paula Morris, Tao Jiang, Kerith‐Rae Dias, Michael F. Buckley, Marcel E. Dinger, Mark J. Cowley, Tony Roscioli, Edwin P. Kirk, Ann Bye, Rani Sachdev

    Publicat 2018
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  10. 10
    CSF neopterin, quinolinic acid and kynurenine/tryptophan ratio are biomarkers of active neuroinflammation

    CSF neopterin, quinolinic acid and kynurenine/tryptophan ratio are biomarkers of active neuroinflammation per Jingya Yan, Kavitha Kothur, Shekeeb S. Mohammad, Jason E. Chung, Shrujna Patel, Hannah Jones, Brooke A. Keating, Velda X. Han, Richard Webster, Simone Ardern‐Holmes, Jayne Antony, Manoj P. Menezes, Esther Tantsis, Deepak Gill, Sachin Gupta, Tejaswi Kandula, Hugo Sampaio, Michelle A. Farrar, Christopher Troedson, P Ian Andrews, Sekhar Pillai, Benjamin Heng, Gilles J. Guillemin, Anna Guller, Sushil Bandodkar, Russell C. Dale

    Publicat 2023
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  11. 11
    Epilepsy and mental retardation limited to females: an under-recognized disorder

    Epilepsy and mental retardation limited to females: an under-recognized disorder per Ingrid E. Scheffer, Samantha J. Turner, Leanne M. Dibbens, Marta A. Bayly, Kathryn Friend, Bree Hodgson, Linda Burrows, Marie Shaw, Wei Chen, Reinhard Ullmann, Hans‐Hilger Ropers, Pierre Szepetowski, Eric Haan, Aziz Mazarib, Zaid Afawi, Miriam Y. Neufeld, P. Ian Andrews, Geoffrey Wallace, Sara Kivity, Dorit Lev, Tally Lerman‐Sagie, Christopher P. Derry, Amos D. Korczyn, Jozef Gécz, John C. Mulley, Samuel F. Berkovic

    Publicat 2008
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  12. 12
    Mutations in <i><scp>KCNT</scp>1</i> cause a spectrum of focal epilepsies

    Mutations in <i><scp>KCNT</scp>1</i> cause a spectrum of focal epilepsies per Rikke S. Møller, Sarah E. Heron, Line H.G. Larsen, Chiao Xin Lim, Michael G. Ricos, Marta A. Bayly, Marjan J. A. van Kempen, Sylvia Klinkenberg, Ian Andrews, Kent R. Kelley, Gabriel M. Ronen, David Callen, Jacinta M. McMahon, Simone C. Yendle, Gemma L. Carvill, Heather C. Mefford, Rima Nabbout, Annapurna Poduri, Pasquale Striano, M. G. Baglietto, Federico Zara, Nicholas Smith, Clair Pridmore, Elena Gardella, Marina Nikanorova, Hans A. Dahl, Paul Gellert, Ingrid E. Scheffer, Boudewijn Gunning, Bente Kragh‐Olsen, Leanne M. Dibbens

    Publicat 2015
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  13. 13
    ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism

    ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism per Radha Desai, Ann E. Frazier, Romina Durigon, Harshil Patel, Aleck W.E. Jones, Ilaria Dalla Rosa, Nicole J. Lake, Alison G. Compton, Hayley S. Mountford, Elena J. Tucker, Alice Mitchell, Deborah Jackson, Abdul Karim Sesay, Miriam Di Re, Lambert P. van den Heuvel, Derek Burke, David Francis, Sebastian Lunke, George McGillivray, Simone Mandelstam, Fanny Mochel, Boris Keren, Claude Jardel, Anne‐Marie W. Turner, P. Ian Andrews, Jan Smeitink, Johannes N. Spelbrink, Simon Heales, Masakazu Kohda, Akira Ohtake, Kei Murayama, Yasushi Okazaki, Anne Lombès, Ian Holt, David R. Thorburn, Antonella Spinazzola

    Publicat 2017
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  14. 14
    ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism

    ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism per Desai, Radha, Frazier, Ann E., Durigon, Romina, Patel, Harshil, Jones, Aleck W., Dalla Rosa, Ilaria, Lake, Nicole J., Compton, Alison G., Mountford, Hayley S., Tucker, Elena J., Mitchell, Alice L. R., Jackson, Deborah, Sesay, Abdul, Di Re, Miriam, van den Heuvel, Lambert P., Burke, Derek, Francis, David, Lunke, Sebastian, McGillivray, George, Mandelstam, Simone, Mochel, Fanny, Keren, Boris, Jardel, Claude, Turner, Anne M., Ian Andrews, P., Smeitink, Jan, Spelbrink, Johannes N., Heales, Simon J., Kohda, Masakazu, Ohtake, Akira, Murayama, Kei, Okazaki, Yasushi, Lombès, Anne, Holt, Ian J., Thorburn, David R., Spinazzola, Antonella

    Publicat 2017
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  15. 15
    Pathogenic MAST3 variants in the STK domain are associated with epilepsy

    Pathogenic MAST3 variants in the STK domain are associated with epilepsy per Spinelli, Egidio, Christensen, Kyle R, Bryant, Emily, Schneider, Amy, Rakotomamonjy, Jennifer, Muir, Alison M, Giannelli, Jessica, Littlejohn, Rebecca O, Roeder, Elizabeth R, Schmidt, Berkley, Wilson, William G, Marco, Elysa J, Iwama, Kazuhiro, Kumada, Satoko, Pisano, Tiziana, Barba, Carmen, Vetro, Annalisa, Brilstra, Eva H, van Jaarsveld, Richard H, Matsumoto, Naomichi, Goldberg-Stern, Hadassa, Carney, Patrick, Ian Andrews, P, El Achkar, Christelle M, Berkovic, Sam, Rodan, Lance H, McWalter, Kirsty, Guerrini, Renzo, Scheffer, Ingrid E, Mefford, Heather C, Mandelstam, Simone, Laux, Linda, Millichap, John J, Guemez-Gamboa, Alicia, Nairn, Angus C, Carvill, Gemma L

    Publicat 2021
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  16. 16
    Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures

    Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures per Slavé Petrovski, Sébastien Küry, Candace T. Myers, Kwame Anyane‐Yeboa, Benjamin Cogné, Martin G. Bialer, Fan Xia, Parisa Hemati, James J. Riviello, Michele G. Mehaffey, Thomas Besnard, Emily Becraft, Alexandrea Wadley, Anya Revah Politi, Sophie Colombo, Xiaolin Zhu, Zhong Ren, Ian Andrews, Tracy Dudding‐Byth, Amy L. Schneider, Geoffrey Wallace, Aaron B.I. Rosen, Susan Schelley, Gregory M. Enns, Pierre Corre, Joline Dalton, Sandra Mercier, Xénia Latypova, Sébastien Schmitt, Edwin R. Guzman, Christine Moore, Louise Bier, Erin L. Heinzen, Peter Karachunski, Natasha Shur, Theresa A. Grebe, Alice Basinger, Joanne Nguyen, Stéphane Bézieau, Klaas J. Wierenga, Jonathan A. Bernstein, Ingrid E. Scheffer, Jill A. Rosenfeld, Heather C. Mefford, Bertrand Isidor, David B. Goldstein

    Publicat 2016
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  17. 17
    <i>ATP1A2-</i> and <i>ATP1A3-</i>associated early profound epileptic encephalopathy and polymicrogyria

    <i>ATP1A2-</i> and <i>ATP1A3-</i>associated early profound epileptic encephalopathy and polymicrogyria per Annalisa Vetro, Hang N. Nielsen, Rikke Holm, Robert F. Hevner, Elena Parrini, Zöe Powis, Rikke S. Møller, Cristina Bellan, Alessandro Simonati, Gaëtan Lesca, Katherine L. Helbig, Elizabeth E. Palmer, Davide Mei, Elisa Ballardini, Arie van Haeringen, Steffen Syrbe, Vincenzo Leuzzi, Giovanni Cioni, Cynthia J. Curry, Gregory Costain, Margherita Santucci, Karen Chong, Grazia M.S. Mancini, Jill Clayton‐Smith, Stefania Bigoni, Ingrid E. Scheffer, William B. Dobyns, Bente Vilsen, Renzo Guerrini, Damien Sanlaville, Rani Sachdev, Ian Andrews, Francesco Mari, A Cavalli, Carmen Barba, Beatrice De Maria, Giampaolo Garani, Johannes R. Lemke, Mario Mastrangelo, Emily Tam, Elizabeth Donner, Helen M. Branson, Fabíola Paoli Monteiro, Fernando Kok, Katherine B. Howell, Stephanie L. Leech, Heather C. Mefford, Alison M. Muir

    Publicat 2021
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  18. 18
    Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: clinical and genetic characterization and target for therapy

    Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: clinical and genetic characterization and target for therapy per Laura van Berge, Eline M. Hamilton, Tarja Linnankivi, G. Uziel, Marjan E. Steenweg, Pirjo Isohanni, Nicole I. Wolf, Ingeborg Krägeloh‐Mann, N. J. Brautaset, P. Ian Andrews, Brigit A. de Jong, Malak Al Ghamdi, Wessel N. van Wieringen, Bakhos A. Tannous, Esther Hulleman, T. Wurdinger, Carola G.M. van Berkel, Emiel Polder, Truus E. M. Abbink, Eduard A. Struys, Gert C. Scheper, Marjo S. van der Knaap, F. Alehan, Richard Appleton, Eugen Boltshauser, Knut Brockmann, E Calado, A. Carius, I.F.M. de Coo, Rudy Van Coster, S. El-Zind, Özdem Ertürk Çetin, Л. М. Фадеева, Annette Feigenbaum, Sarenur Gökben, Mark Gorman, Sheffali Gulati, P. Hnevsova, Kairit Joost, Wolfgang Köhler, Anneli Kolk, Wolfgang Kristoferitsch, Elizabeth Lemos Silveira, Jaime Lin, S. Lutz, Carla Mendonça, C. Nuttin, Thomas Opladen, M. Savoiardo, Raphael Schiffmann, Angelika Seitz, S V Serkov, Shruti Sharma, Sylvia Stöckler, I. Karen Temple, Kayıhan Uluç, S. Vojta, Guy Wilms, Betty Wong, Zühal Yapıcı

    Publicat 2014
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  19. 19
    Germline AGO2 mutations impair RNA interference and human neurological development

    Germline AGO2 mutations impair RNA interference and human neurological development per Davor Lessel, Daniela M. Zeitler, Margot R.F. Reijnders, Andriy Kazantsev, Fatemeh Hassani Nia, Alexander Bartholomäus, Victoria Martens, Astrid Bruckmann, Veronika Graus, Allyn McConkie‐Rosell, Marie McDonald, Bernarda Lozić, Ee‐Shien Tan, Erica H. Gerkes, Jessika Johannsen, Jonas Denecke, Aida Telegrafi, Evelien Zonneveld‐Huijssoon, Henny H. Lemmink, Breana Cham, Tanja Kovačević, Linda Ramsdell, Kimberly Foss, Diana Le Duc, Diana Mitter, Steffen Syrbe, Andreas Merkenschlager, Margje Sinnema, Bianca Panis, Joanna Lazier, Matthew Osmond, Taila Hartley, Jérémie Mortreux, Tiffany Busa, Chantal Missirian, Pankaj Prasun, Sabine Lüttgen, Ilaria Mannucci, Ivana Lessel, Claudia Schob, Stefan Kindler, John Pappas, Rachel Rabin, Marjolein H. Willemsen, Thatjana Gardeitchik, Katharina Löhner, Patrick Rump, Kerith‐Rae Dias, Carey‐Anne Evans, P. Ian Andrews, Tony Roscioli, Han G. Brunner, Chieko Chijiwa, M. E. Suzanne Lewis, Rami Abou Jamra, David A. Dyment, Kym M. Boycott, Alexander P.A. Stegmann, Christian Kubisch, Ene‐Choo Tan, Ghayda Mirzaa, Kirsty McWalter, Tjitske Kleefstra, Rolph Pfundt, Zoya Ignatova, Gunter Meister, Hans‐Jürgen Kreienkamp

    Publicat 2020
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  20. 20
    Megalencephalic leukoencephalopathy with subcortical cysts

    Megalencephalic leukoencephalopathy with subcortical cysts per Eline M. Hamilton, Pınar Tektürk, Fia Cialdella, Diane F. van Rappard, Nicole I. Wolf, Cengiz Yalçınkaya, Ümran Çetinçelik, Ahmad Rajaee, Ariana Kariminejad, Justyna Paprocka, Zühal Yapıcı, Vlatka Mejaški Bošnjak, Marjo S. van der Knaap, Hugo Hernán Abarca-Barriga, Samer Abdelrazeq, Gül Serdaroğlu, P. Ian Andrews, Richard Appleton, Lucia Argandoña Palacios, Brenda Banwell, Florian Bauder, Gülçin Benbir Şenel, Tim A. Benke, Susan Blasér, Annette Bley, Cristiana Brenner, Knut Brockmann, Rafael Camino, Coriene E. Catsman‐Berrevoets, Yanick J. Crow, M. A. J. Scott R. Dalton, María de la Luz Arenas‐Sordo, Linda De Meırleır, Ana Isabel Dias, Francis J. DiMario, Maria Alice Donati, Nihal Olgaç Dündar, François Feillet, Maria José Fonseca, Emilio Franzoni, Jeremy L. Freeman, Katsunori Fujii, Soumya Ghosh, Scott Gold, Solange Gril, Barbara Hallinan, Ágnes Herczegfalvi, Jozef Hertecant, Joannie Hui, David Hunt, Parul Jayakar, Bülent Kara, Çiğdem Seher Kasapkara, Gülşen Kocaman, David M. Koeller, Wolfgang Köhler, Alfried Kohlschütter, Marja Koivusalo, Urania Kotzaeridou, Roshan Koul, Ingeborg Krägeloh‐Mann, Ružica Kravljanac, Gerhard Kurlemann, Julian Lara Herguedas, Silvia Laurentino, Richard J. Leventer, Bryan Lynch, Oliver Maier, Sascha Meyer, Olivera Miljanović, José Paulo Monteiro, Ellen Moran, T. Moreno, Jacques Motté, C. D. Moyes, Lakshmi Nagarajan, Marie‐Cécile Nassogne, Slavica Ostojić, P Pietsch, Iliana Porfiri, Sofia Quintas, Maria Belen Ramos, Deborah L. Renaud, Biserka Rešić, Carolina Rivera Nieto, Jutta Rummel, Robert Rusina, Mustafa A. Salih, Sabine Scholl‐Bürgi, Bitten Schönewolf‐Greulich, Snehal Shah, Suvasini Sharma, Gabriella Silvestri, Komudi Siriwardena, Victoria Mok Siu, Anne‐Bine Skytte, Zeyneb Soysal, Carlos Eduardo Speck Martins, Angela Sun, Burak Tatlı

    Publicat 2018
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