Ngā hua rapu kaituhi :: APM

1

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

I whakaputaina 2018

Whiwhi kuputuhi katoa
Revisão

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2

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

I whakaputaina 2018

Whiwhi kuputuhi katoa
Revisão

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3

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

I whakaputaina 2020

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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4

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

I whakaputaina 2016

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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

I whakaputaina 2010

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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

I whakaputaina 2011

Whiwhi kuputuhi katoa
Artigo

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7

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

I whakaputaina 2004

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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8

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

I whakaputaina 2006

Whiwhi kuputuhi katoa
Artigo

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9

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

I whakaputaina 2018

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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10

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

I whakaputaina 2016

Whiwhi kuputuhi katoa
Artigo

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11

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

I whakaputaina 2024

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12

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

I whakaputaina 2010

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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13

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

I whakaputaina 2016

Whiwhi kuputuhi katoa
Artigo

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

I whakaputaina 2019

Whiwhi kuputuhi katoa
Artigo

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15

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

I whakaputaina 2023

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Revisão

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

I whakaputaina 2010

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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

I whakaputaina 2014

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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

I whakaputaina 2017

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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

I whakaputaina 2018

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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20

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

I whakaputaina 2018

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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