Zoekresultaten - Venkateswaran Ramesh

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  1. 1
    Severe cortical damage associated with COVID-19 case report

    Severe cortical damage associated with COVID-19 case report door Zombori, Luca, Bacon, Melody, Wood, Hannah, Chatterjee, Fiona, Venkateswaran, Ramesh, Lampariello, Simona, Yoong, Michael

    Gepubliceerd in 2021
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  2. 2
    Exome sequencing in undiagnosed inherited and sporadic ataxias

    Exome sequencing in undiagnosed inherited and sporadic ataxias door Angela Pyle, Tania Smertenko, David Bargiela, Helen Griffin, Jennifer Duff, Marie Appleton, Konstantinos Douroudis, Gerald Pfeffer, Mauro Santibanez‐Koref, Gail Eglon, Patrick Yu‐Wai‐Man, Venkateswaran Ramesh, Rita Horváth, Patrick F. Chinnery

    Gepubliceerd in 2014
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  3. 3
    Homozygous deletion in <i>MICU1</i> presenting with fatigue and lethargy in childhood

    Homozygous deletion in <i>MICU1</i> presenting with fatigue and lethargy in childhood door David Lewis‐Smith, Kimberli J. Kamer, Helen Griffin, Anne‐Marie Childs, Karen Pysden, Denis V. Titov, Jennifer Duff, Angela Pyle, Robert W. Taylor, Patrick Yu‐Wai‐Man, Venkateswaran Ramesh, Rita Horváth, Vamsi K. Mootha, Patrick F. Chinnery

    Gepubliceerd in 2016
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  4. 4
    Neurological features of epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome

    Neurological features of epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome door J. Helen Cross, Ruchi Arora, Rolf A. Heckemann, Roxana Gunny, Kling Chong, Lucinda Carr, Torsten Baldeweg, Ann‐Marie Differ, Nicholas Lench, S Varadkar, Tony Sirimanna, Evangeline Wassmer, Sally A. Hulton, Miloš Ognjanović, Venkateswaran Ramesh, Sally Feather, Robert Kleta, Alexander Hammers, Detlef Böckenhauer

    Gepubliceerd in 2013
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  5. 5
    FHF1 (FGF12) epileptic encephalopathy

    FHF1 (FGF12) epileptic encephalopathy door Sameer Al‐Mehmadi, Miranda Splitt, Venkateswaran Ramesh, Suzanne D. DeBrosse, Kimberly Dessoffy, Fan Xia, Yaping Yang, Jill A. Rosenfeld, Patrick Cossette, Jacques L. Michaud, Fadi F. Hamdan, Philippe M. Campeau, Berge A. Minassian, Jeffrey C. Barrett, Matthew E. Hurles

    Gepubliceerd in 2016
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  6. 6
    Genetic heterogeneity of motor neuropathies

    Genetic heterogeneity of motor neuropathies door Boglárka Bánsági, Helen Griffin, Roger G. Whittaker, Thalia Antoniadi, Teresinha Evangelista, James Miller, Mark Greenslade, Natalie Forester, Jennifer Duff, Anna Bradshaw, Stephanie Kleinle, Veronika Boczonadi, Hannah E. Steele, Venkateswaran Ramesh, Edit Frankó, Angela Pyle, Hanns Lochmüller, Patrick F. Chinnery, Rita Horváth

    Gepubliceerd in 2017
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  7. 7
    Intracerebral large artery disease in Aicardi–Goutières syndrome implicates SAMHD1 in vascular homeostasis

    Intracerebral large artery disease in Aicardi–Goutières syndrome implicates SAMHD1 in vascular homeostasis door Venkateswaran Ramesh, Bruno De Bernardi, A. Stafa, Caterina Garone, Emilio Franzoni, Mario Abinun, Patrick Mitchell, Dipayan Mitra, Mark Friswell, John W. Nelson, Stavit A. Shalev, Gillian Rice, Hannah Gornall, Marcin Szynkiewicz, FRANÇOIS AYMARD, Vijeya Ganesan, Julie Prendiville, John H. Livingston, Yanick J. Crow

    Gepubliceerd in 2010
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  8. 8
    Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy–like disease

    Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy–like disease door Veronika Boczonadi, Martin S. King, Anthony C. Smith, Monika Oláhová, Boglárka Bánsági, Andreas Roos, Filmon Eyassu, Christoph H. Borchers, Venkateswaran Ramesh, Hanns Lochmüller, Tuomo Polvikoski, Roger G. Whittaker, Angela Pyle, Helen Griffin, Robert W. Taylor, Patrick F. Chinnery, Alan J. Robinson, Edmund R.S. Kunji, Rita Horváth

    Gepubliceerd in 2018
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  9. 9
    LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood

    LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood door Caroline Michot, Laurence Hubert, Michèle Brivet, Linda De Meırleır, Vassili Valayannopoulos, Wolfgang Müller‐Felber, Venkateswaran Ramesh, Hélène Ogier, Isabelle Desguerre, Cécilia Altuzarra, Elizabeth Thompson, Martin Smitka, Angela Huebner, Marie Husson, Rita Horváth, Patrick F. Chinnery, Frédéric M. Vaz, Arnold Münnich, Orly Elpeleg, Agnès Delahodde, Yves de Keyzer, Pascale de Lonlay

    Gepubliceerd in 2010
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  10. 10
    Clinical and molecular characterization of <i>KCNT1</i> -related severe early-onset epilepsy

    Clinical and molecular characterization of <i>KCNT1</i> -related severe early-onset epilepsy door Amy McTague, Umesh Nair, Sony Malhotra, Esther Meyer, Natalie Trump, Elena V. Gazina, Apostolos Papandreou, Adeline Ngoh, Sally Ackermann, Gautam Ambegaonkar, Richard Appleton, Archana Desurkar, Christin Eltze, Rachel Kneen, Ajith Kumar, Karine Lascelles, Tara Montgomery, Venkateswaran Ramesh, Rajib Samanta, Richard H. Scott, Jeen Tan, William Whitehouse, Annapurna Poduri, Ingrid E. Scheffer, W Kling Chong, J. Helen Cross, Maya Topf, Steven Petrou, Manju A. Kurian

    Gepubliceerd in 2017
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  11. 11
    Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies

    Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies door Robert W. Taylor, Angela Pyle, Helen Griffin, Emma L. Blakely, Jennifer Duff, Langping He, Tania Smertenko, Charlotte L. Alston, Vivienne C. M. Neeve, Andrew Best, John W. Yarham, Janbernd Kirschner, Ulrike Schara, Beril Talim, Haluk Topaloğlu, Ivo Barić, Elke Holinski‐Feder, Angela Abicht, Birgit Czermin, Stephanie Kleinle, Andrew A. M. Morris, Grace Vassallo, Gráinne S. Gorman, Venkateswaran Ramesh, Douglass M. Turnbull, Mauro Santibanez‐Koref, Robert McFarland, Rita Horváth, Patrick F. Chinnery

    Gepubliceerd in 2014
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  12. 12
    Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration

    Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration door Annalisa Vetro, Cristiana Pelorosso, Simona Balestrini, Alessio Masi, Sophie Hambleton, Emanuela Argilli, Valerio Conti, Simone Giubbolini, Rebekah Barrick, Gaber Bergant, Karin Writzl, Emilia K. Bijlsma, Theresa Brunet, Pilar Cacheiro, Davide Mei, Anita Devlin, Mariëtte J.V. Hoffer, Keren Machol, Guido Mannaioni, Masamune Sakamoto, Manoj P. Menezes, Thomas Courtin, Elliott H. Sherr, Riccardo Parra, Ruth Richardson, Tony Roscioli, Marcello Scala, Celina von Stülpnagel, Damian Smedley, Francesca Pochiero, Francesco Mari, Venkateswaran Ramesh, Valeria Capra, Maria Margherita Mancardi, Boris Keren, C. Mignot, Matteo Lulli, Kendall C. Parks, Helen Griffin, Melanie Brugger, Vincenzo Nigro, Mitsuhiro Kato, Reiko Koichihara, Borut Peterlin, Mitsuhiro Kato, Ryuto Maki, Yohei Nitta, John C. Ambrose, Prabhu Arumugam, R. Bevers, Marta Bleda, F. Boardman-Pretty, C. R. Boustred, Helen Brittain, Matthew A. Brown, Mark J. Caulfield, G. C. Chan, Adam Giess, John N. Griffin, Angela Hamblin, Bingyang Shi, Tim Hubbard, Robert B. Jackson, Louise J. Jones, Dalia Kasperavičiūtė, Melis Kayikci, Athanasios Kousathanas, L. Lahnstein, Anna Lakey, S. E. A. Leigh, I. U. S. Leong, Javier Ferreiros, F. Maleady-Crowe, Meriel McEntagart, Federico Minneci, Jonathan Mitchell, Loukas Moutsianas, Michael P. Mueller, Nirupa Murugaesu, Anna C. Need, Peter O’Donovan, Chris A. Odhams, Christine Patch, D. Perez-Gil, Monica Pereira, J. Pullinger, T. Rahim, Augusto Rendon, Tim Rogers, K. Savage, Kushmita Sawant, Richard H. Scott, Afshan Siddiq, A. Sieghart, Samuel C. Smith, Alona Sosinsky, Alexander Stuckey, M. Tanguy, Ana Lisa Taylor Tavares, Ellen Thomas

    Gepubliceerd in 2023
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  13. 13
    Characterization of human disease phenotypes associated with mutations in <i>TREX1</i>, <i>RNASEH2A</i>, <i>RNASEH2B</i>, <i>RNASEH2C</i>, <i>SAMHD1</i>, <i>ADAR</i>, and <i>IFIH1</i>

    Characterization of human disease phenotypes associated with mutations in <i>TREX1</i>, <i>RNASEH2A</i>, <i>RNASEH2B</i>, <i>RNASEH2C</i>, <i>SAMHD1</i>, <i>ADAR</i>, and <i>IFIH1<... door Yanick J. Crow, Diana Chase, Johanna L. Schmidt, Marcin Szynkiewicz, Gabriella Forte, Hannah Gornall, Anthony Oojageer, Beverley Anderson, Amy Pizzino, Guy Helman, Mohamed S. Abdel‐Hamid, Ghada M. H. Abdel‐Salam, Sam Ackroyd, Alec Aeby, Guillermo Agosta, Catherine S. W. Albin, Stavit A. Shalev, Montse Arellano, Giada Ariaudo, Vijay Aswani, Riyana Babul‐Hirji, Eileen Baildam, Nadia Bahi‐Buisson, Kathryn Bailey, Christine Barnérias, Magalie Barth, Roberta Battini, Michael W. Beresford, Geneviève Bernard, Marika Bianchi, Thierry Billette de Villemeur, Edward Blair, Miriam Bloom, Alberto Burlina, Maria Luisa Carpanelli, Daniel R. Carvalho, Manuel Castro‐Gago, Anna Cavallini, Cristina Cereda, Kate Chandler, David Chitayat, Abigail E. Collins, Concepción Sierra Córcoles, Nuno Cordeiro, Giovanni Crichiutti, Lyvia Dabydeen, Russell C. Dale, Stefano D’Arrigo, Christian G E L De Goede, Corinne De Laet, Liesbeth M. H. De Waele, Inés María Denzler, Isabelle Desguerre, Koenraad Devriendt, Maja Di Rocco, Michael Fahey, Elisa Fazzi, Colin D. Ferrie, António Figueiredo, Blanca Gener, Cyril Goizet, Nirmala Gowrinathan, Kalpana Gowrishankar, Donncha Hanrahan, Bertrand Isidor, Bülent Kara, Naz Khan, Mary D. King, Edwin P. Kirk, Ram Kumar, Lieven Lagae, P. Landrieu, Heinz Lauffer, Vincent Laugel, Roberta La Piana, Ming Lim, Jean‐Pierre Lin, Tarja Linnankivi, Mark T. Mackay, Daphna Marom, Charles Marques Lourenço, Shane McKee, Isabella Moroni, Jenny E.V. Morton, Marie‐Laure Moutard, Kevin Murray, Rima Nabbout, Sheela Nampoothiri, Noemí Núñez‐Enamorado, P.J. Oades, Ivana Olivieri, John R. Østergaard, Belén Pérez‐Dueñas, Julie Prendiville, Venkateswaran Ramesh, Magnhild Rasmussen, Luc Régal, Federica Ricci, Marlène Rio, Diana Rodriguez

    Gepubliceerd in 2015
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