Publications by authors named "Vasiliki Nakou"

5Publications

RBCK1-related disease: A rare multisystem disorder with polyglucosan storage, auto-inflammation, recurrent infections, skeletal, and cardiac myopathy-Four additional patients and a review of the current literature.

Authors:
Rahul Phadke Carola Hedberg-Oldfors Renata S Scalco David M Lowe Michael Ashworth Marco Novelli Roshni Vara Aine Merwick Halima Amer Reecha Sofat Max Sugarman Ana Jovanovic Mark Roberts Vasiliki Nakou Andrew King Istvan Bodi Heinz Jungbluth Anders Oldfors Elaine Murphy

J Inherit Metab Dis 2020 Sep 16;43(5):1002-1013. Epub 2020 Apr 16.

Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, Queen Square, London, UK.

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September 2020

Unusual Presentations of Dystrophinopathies in Childhood.

Authors:
Nicholas M Allen Alice Ewer Vasiliki Nakou Ele Konstantoulaki Elizabeth Wraige Vasantha Gowda Heinz Jungbluth

Pediatrics 2018 04;141(Suppl 5):S510-S514

Department of Paediatric Neurology, Neuromuscular Service, Evelina's Children Hospital, Guy's and St Thomas' Hospital National Health Service Foundation Trust, London, United Kingdom;

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April 2018

Corrigendum: Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.

Authors:
Esther Meyer Keren J Carss Julia Rankin John M E Nichols Detelina Grozeva Agnel P Joseph Niccolo E Mencacci Apostolos Papandreou Joanne Ng Serena Barral Adeline Ngoh Hilla Ben-Pazi Michel A Willemsen David Arkadir Angela Barnicoat Hagai Bergman Sanjay Bhate Amber Boys Niklas Darin Nicola Foulds Nicholas Gutowski Alison Hills Henry Houlden Jane A Hurst Zvi Israel Margaret Kaminska Patricia Limousin Daniel Lumsden Shane McKee Shibalik Misra Shekeeb S Mohammed Vasiliki Nakou Joost Nicolai Magnus Nilsson Hardev Pall Kathryn J Peall Gregory B Peters Prab Prabhakar Miriam S Reuter Patrick Rump Reeval Segel Margje Sinnema Martin Smith Peter Turnpenny Susan M White Dagmar Wieczorek Sarah Wiethoff Brian T Wilson Gidon Winter Christopher Wragg Simon Pope Simon J H Heales Deborah Morrogh Alan Pittman Lucinda J Carr Belen Perez-Dueñas Jean-Pierre Lin Andre Reis William A Gahl Camilo Toro Kailash P Bhatia Nicholas W Wood Erik-Jan Kamsteeg Wui K Chong Paul Gissen Maya Topf Russell C Dale Jonathan R Chubb F Lucy Raymond Manju A Kurian

Nat Genet 2017 05;49(6):969

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May 2017

Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.

Authors:
Esther Meyer Keren J Carss Julia Rankin John M E Nichols Detelina Grozeva Agnel P Joseph Niccolo E Mencacci Apostolos Papandreou Joanne Ng Serena Barral Adeline Ngoh Hilla Ben-Pazi Michel A Willemsen David Arkadir Angela Barnicoat Hagai Bergman Sanjay Bhate Amber Boys Niklas Darin Nicola Foulds Nicholas Gutowski Alison Hills Henry Houlden Jane A Hurst Zvi Israel Margaret Kaminska Patricia Limousin Daniel Lumsden Shane McKee Shibalik Misra Shekeeb S Mohammed Vasiliki Nakou Joost Nicolai Magnus Nilsson Hardev Pall Kathryn J Peall Gregory B Peters Prab Prabhakar Miriam S Reuter Patrick Rump Reeval Segel Margje Sinnema Martin Smith Peter Turnpenny Susan M White Dagmar Wieczorek Sarah Wiethoff Brian T Wilson Gidon Winter Christopher Wragg Simon Pope Simon J H Heales Deborah Morrogh Alan Pittman Lucinda J Carr Belen Perez-Dueñas Jean-Pierre Lin Andre Reis William A Gahl Camilo Toro Kailash P Bhatia Nicholas W Wood Erik-Jan Kamsteeg Wui K Chong Paul Gissen Maya Topf Russell C Dale Jonathan R Chubb F Lucy Raymond Manju A Kurian

Nat Genet 2017 Feb 19;49(2):223-237. Epub 2016 Dec 19.

Molecular Neurosciences, Developmental Neurosciences, UCL Institute of Child Health, London, UK.

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February 2017

Complications of Deep Brain Stimulation (DBS) for dystonia in children - The challenges and 10 year experience in a large paediatric cohort.

Authors:
Margaret Kaminska Sarah Perides Daniel E Lumsden Vasiliki Nakou Richard Selway Keyoumars Ashkan Jean-Pierre Lin

Eur J Paediatr Neurol 2017 Jan 3;21(1):168-175. Epub 2016 Aug 3.

Complex Motor Disorders Service, Evelina London Children's Hospital, Guy's and St Thomas' NHS Foundation Trust, London, UK.

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January 2017