Αποτελέσματα αναζήτησης - Finbar O’Callaghan
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The underlying etiology of infantile spasms (West syndrome): Information from the United Kingdom Infantile Spasms Study (UKISS) on contemporary causes and their classification<sup>... από John Osborne, Andrew Lux, Stuart W. Edwards, Eleanor Hancock, Anthony L. Johnson, Colin Kennedy, Richard Newton, Christopher Verity, Finbar O’Callaghan
Έκδοση 2010Artigo -
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The effect of lead time to treatment and of age of onset on developmental outcome at 4 years in infantile spasms: Evidence from the United Kingdom Infantile Spasms Study από Finbar O’Callaghan, Andrew Lux, Katrina Darke, Stuart W. Edwards, Eleanor Hancock, Anthony L. Johnson, Colin Kennedy, Richard Newton, Christopher Verity, John Osborne
Έκδοση 2011Artigo -
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The relation of infantile spasms, tubers, and intelligence in tuberous sclerosis complex από Finbar O’Callaghan, Tirril Harris, Carol Joinson, Patrick Bolton, M. Noakes, D Presdee, Shelley Renowden, Alistair W. Shiell, C N Martyn, J. P. Osborne
Έκδοση 2004Artigo -
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CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients από Hayley Archer, Julie Evans, Stuart W. Edwards, James Colley, Ruth Newbury‐Ecob, Finbar O’Callaghan, Margaret Huyton, M O'Regan, John Tolmie, Julian R. Sampson, Angus Clarke, J. P. Osborne
Έκδοση 2006Artigo -
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The UK guidelines for management and surveillance of Tuberous Sclerosis Complex από Sam Amin, J.C. Kingswood, Patrick Bolton, Frances Elmslie, Daniel P. Gale, C. C. Harland, Simon R. Johnson, Alasdair Parker, Julian R. Sampson, M Smeaton, Ingram Wright, Finbar O’Callaghan
Έκδοση 2018Artigo -
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Outcome and recurrence 1 year after pediatric arterial ischemic stroke in a population‐based cohort από Andrew A. Mallick, Vijeya Ganesan, Fenella J. Kirkham, Penny Fallon, Tammy Hedderly, Tony McShane, Alasdair Parker, Evangeline Wassmer, Elizabeth Wraige, Sam Amin, Hannah B Edwards, Mario Cortina‐Borja, Finbar O’Callaghan
Έκδοση 2016Artigo -
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N‐of‐1 trials in epilepsy: A systematic review and lessons paving the way forward από Victoria Defelippe, Eva H. Brilstra, Willem M. Otte, J. Helen Cross, Finbar O’Callaghan, Valentina De Giorgis, Annapurna Poduri, Holger Lerche, Sanjay M. Sisodiya, Kees P. J. Braun, Floor E. Jansen, Emilio Perucca
Έκδοση 2024Revisão -
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Phospholipase C beta 1 deficiency is associated with early-onset epileptic encephalopathy από Manju A. Kurian, Esther Meyer, Grace Vassallo, Neil V. Morgan, Nandhini Prakash, Shanaz Pasha, Nebula A. Hai, Salwati Shuib, Fatima Rahman, Evangeline Wassmer, J. Helen Cross, Finbar O’Callaghan, John Osborne, Ingrid E. Scheffer, Paul Gissen, Eamonn R. Maher
Έκδοση 2010Artigo -
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Safety and effectiveness of hormonal treatment versus hormonal treatment with vigabatrin for infantile spasms (ICISS): a randomised, multicentre, open-label trial από Finbar O’Callaghan, Stuart W. Edwards, Fabienne Dietrich Alber, Eleanor Hancock, Anthony L. Johnson, Colin Kennedy, Marcus Likeman, Andrew Lux, Mark T. Mackay, Andrew A. Mallick, Richard Newton, Melinda Nolan, Ronit Pressler, D. Rating, Bernhard Schmitt, Christopher Verity, John Osborne
Έκδοση 2016Artigo -
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The underlying etiology of infantile spasms (West syndrome): Information from the International Collaborative Infantile Spasms Study (<scp>ICISS</scp>) από John Osborne, Stuart W. Edwards, Fabienne Dietrich Alber, Eleanor Hancock, Anthony L. Johnson, Colin Kennedy, Marcus Likeman, Andrew Lux, Mark T. Mackay, Andrew A. Mallick, Richard Newton, Melinda Nolan, Ronit Pressler, D. Rating, Bernhard Schmitt, Christopher Verity, Finbar O’Callaghan
Έκδοση 2019Artigo -
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Toward responsible clinical n-of-1 strategies for rare diseases από Victoria Defelippe, Ghislaine J. M. W. van Thiel, Willem M. Otte, Roger E. G. Schutgens, Bas C. Stunnenberg, J. Helen Cross, Finbar O’Callaghan, Valentina De Giorgis, Floor E. Jansen, Emilio Perucca, Eva H. Brilstra, Kees P. J. Braun
Έκδοση 2023Revisão -
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Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental study από Manju A. Kurian, Yan Li, Juan Zhen, Esther Meyer, Nebula A. Hai, H.‐J. Christen, Georg F. Hoffmann, Philip Jardine, Arpad von Moers, Santosh Mordekar, Finbar O’Callaghan, Evangeline Wassmer, Elizabeth Wraige, Christa Dietrich, Timothy Lewis, Keith Hyland, Simon Heales, Terence D. Sanger, Paul Gissen, Birgit Assmann, Maarten E. A. Reith, Eamonn R. Maher
Έκδοση 2010Artigo -
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TOSCA – first international registry to address knowledge gaps in the natural history and management of tuberous sclerosis complex από J.C. Kingswood, Paolo Bruzzi, Paolo Curatolo, Petrus J. de Vries, Carla Fladrowski, Christoph Hertzberg, Anna Jansen, Sergiusz Jóźwiak, Rima Nabbout, Matthias Sauter, Renaud Touraine, Finbar O’Callaghan, Bernard A. Zonnenberg, Stefania Crippa, Silvia Comis, Guillaume Beaure d’Augères, Е. Д. Белоусова, Tom Carter, Vincent Cottin, Maria Dahlin, José C. Ferreira, Alfons Macaya, Mirjana Perković Benedik, Valentin Sander, Sotirios Youroukos, Ramon Castellana, Bulent Ulker, Martha Feucht
Έκδοση 2014Artigo -
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TuberOus SClerosis registry to increase disease Awareness (TOSCA) – baseline data on 2093 patients από J.C. Kingswood, Guillaume Beaure d’Augères, Elena Belousova, José C. Ferreira, Tom Carter, Ramon Castellana, Vincent Cottin, Paolo Curatolo, Maria Dahlin, Petrus J. de Vries, Martha Feucht, Carla Fladrowski, Gabriella Gislimberti, Christoph Hertzberg, Sergiusz Jóźwiak, John A. Lawson, Alfons Macaya, Rima Nabbout, Finbar O’Callaghan, Mirjana P. Benedik, Jiong Qin, Rubén Marques, Valentin Sander, Matthias Sauter, Yukitoshi Takahashi, Renaud Touraine, Sotiris Youroukos, Bernard A. Zonnenberg, Anna Jansen
Έκδοση 2017Artigo -
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Renal angiomyolipoma in patients with tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increase disease Awareness από J.C. Kingswood, Elena Belousova, Mirjana P. Benedik, Tom Carter, Vincent Cottin, Paolo Curatolo, Maria Dahlin, Lisa D ́Amato, Guillaume Beaure d’Augères, Petrus J. de Vries, José C. Ferreira, Martha Feucht, Carla Fladrowski, Christoph Hertzberg, Sergiusz Jóźwiak, John A. Lawson, Alfons Macaya, Rubén Marques, Rima Nabbout, Finbar O’Callaghan, Jiong Qin, Valentin Sander, Matthias Sauter, Seema Shah, Yukitoshi Takahashi, Renaud Touraine, Sotiris Youroukos, Bernard A. Zonnenberg, Anna Jansen
Έκδοση 2018Artigo -
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TSC-associated neuropsychiatric disorders (TAND): findings from the TOSCA natural history study από Petrus J. de Vries, Elena Belousova, Mirjana P. Benedik, Tom Carter, Vincent Cottin, Paolo Curatolo, Maria Dahlin, Lisa D’Amato, Guillaume Beaure d’Augères, José C. Ferreira, Martha Feucht, Carla Fladrowski, Christoph Hertzberg, Sergiusz Jóźwiak, J.C. Kingswood, John A. Lawson, Alfons Macaya, Rubén Marques, Rima Nabbout, Finbar O’Callaghan, Jiong Qin, Valentin Sander, Matthias Sauter, Seema Shah, Yukitoshi Takahashi, Renaud Touraine, Sotiris Youroukos, Bernard A. Zonnenberg, Anna Jansen
Έκδοση 2018Artigo
Εργαλεία αναζήτησης:
Σχετικά θέματα
Medicine
Internal medicine
Pediatrics
Psychiatry
Tuberous sclerosis
Epilepsy
Pathology
Disease
Biology
Biochemistry
Genetics
Apoptosis
Chemistry
Epileptic spasms
PI3K/AKT/mTOR pathway
Randomized controlled trial
Astrocytoma
Cancer research
Clinical trial
Etiology
Gene
Neuroscience
Nursing
Psychology
Quality of life (healthcare)
Subependymal giant cell astrocytoma
TSC1
Anticonvulsant
Cohort
Environmental health