Resultats de la cerca - Finbar O’Callaghan

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  1. 1
    Diagnosis of tuberous sclerosis complex in the fetus

    Diagnosis of tuberous sclerosis complex in the fetus per Pinelopi Dragoumi, Finbar O’Callaghan, Dimitrios Zafeiriou

    Publicat 2018
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  2. 2
    The journey of metformin from glycaemic control to mTOR inhibition and the suppression of tumour growth

    The journey of metformin from glycaemic control to mTOR inhibition and the suppression of tumour growth per Sam Amin, Andrew Lux, Finbar O’Callaghan

    Publicat 2018
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  3. 3
    Associations between macrolide antibiotics prescribing during pregnancy and adverse child outcomes in the UK: population based cohort study

    Associations between macrolide antibiotics prescribing during pregnancy and adverse child outcomes in the UK: population based cohort study per Heng Fan, Ruth Gilbert, Finbar O’Callaghan, Leah Li

    Publicat 2020
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  4. 4
    Causes of mortality in individuals with tuberous sclerosis complex

    Causes of mortality in individuals with tuberous sclerosis complex per Sam Amin, Andrew Lux, Nuala Calder, Matthew Laugharne, John Osborne, Finbar O’Callaghan

    Publicat 2016
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  5. 5
    The underlying etiology of infantile spasms (West syndrome): Information from the United Kingdom Infantile Spasms Study (UKISS) on contemporary causes and their classification<sup>2</sup>

    The underlying etiology of infantile spasms (West syndrome): Information from the United Kingdom Infantile Spasms Study (UKISS) on contemporary causes and their classification<sup>... per John Osborne, Andrew Lux, Stuart W. Edwards, Eleanor Hancock, Anthony L. Johnson, Colin Kennedy, Richard Newton, Christopher Verity, Finbar O’Callaghan

    Publicat 2010
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  6. 6
    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

    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 per Finbar O’Callaghan, Andrew Lux, Katrina Darke, Stuart W. Edwards, Eleanor Hancock, Anthony L. Johnson, Colin Kennedy, Richard Newton, Christopher Verity, John Osborne

    Publicat 2011
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  7. 7
    The relation of infantile spasms, tubers, and intelligence in tuberous sclerosis complex

    The relation of infantile spasms, tubers, and intelligence in tuberous sclerosis complex per Finbar O’Callaghan, Tirril Harris, Carol Joinson, Patrick Bolton, M. Noakes, D Presdee, Shelley Renowden, Alistair W. Shiell, C N Martyn, J. P. Osborne

    Publicat 2004
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  8. 8
    CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients

    CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients per 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

    Publicat 2006
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  9. 9
    The UK guidelines for management and surveillance of Tuberous Sclerosis Complex

    The UK guidelines for management and surveillance of Tuberous Sclerosis Complex per 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

    Publicat 2018
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  10. 10
    Outcome and recurrence 1 year after pediatric arterial ischemic stroke in a population‐based cohort

    Outcome and recurrence 1 year after pediatric arterial ischemic stroke in a population‐based cohort per 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

    Publicat 2016
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  11. 11
    N‐of‐1 trials in epilepsy: A systematic review and lessons paving the way forward

    N‐of‐1 trials in epilepsy: A systematic review and lessons paving the way forward per 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

    Publicat 2024
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  12. 12
    Phospholipase C beta 1 deficiency is associated with early-onset epileptic encephalopathy

    Phospholipase C beta 1 deficiency is associated with early-onset epileptic encephalopathy per 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

    Publicat 2010
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  13. 13
    Safety and effectiveness of hormonal treatment versus hormonal treatment with vigabatrin for infantile spasms (ICISS): a randomised, multicentre, open-label trial

    Safety and effectiveness of hormonal treatment versus hormonal treatment with vigabatrin for infantile spasms (ICISS): a randomised, multicentre, open-label trial per 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

    Publicat 2016
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  14. 14
    The underlying etiology of infantile spasms (West syndrome): Information from the International Collaborative Infantile Spasms Study (<scp>ICISS</scp>)

    The underlying etiology of infantile spasms (West syndrome): Information from the International Collaborative Infantile Spasms Study (<scp>ICISS</scp>) per 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

    Publicat 2019
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  15. 15
    Toward responsible clinical n-of-1 strategies for rare diseases

    Toward responsible clinical n-of-1 strategies for rare diseases per 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

    Publicat 2023
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  16. 16
    Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental study

    Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental study per 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

    Publicat 2010
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  17. 17
    TOSCA – first international registry to address knowledge gaps in the natural history and management of tuberous sclerosis complex

    TOSCA – first international registry to address knowledge gaps in the natural history and management of tuberous sclerosis complex per 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

    Publicat 2014
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  18. 18
    TuberOus SClerosis registry to increase disease Awareness (TOSCA) – baseline data on 2093 patients

    TuberOus SClerosis registry to increase disease Awareness (TOSCA) – baseline data on 2093 patients per 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

    Publicat 2017
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  19. 19
    Renal angiomyolipoma in patients with tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increase disease Awareness

    Renal angiomyolipoma in patients with tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increase disease Awareness per 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

    Publicat 2018
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  20. 20
    TSC-associated neuropsychiatric disorders (TAND): findings from the TOSCA natural history study

    TSC-associated neuropsychiatric disorders (TAND): findings from the TOSCA natural history study per 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

    Publicat 2018
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