John H Livingston

John H Livingston

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John H Livingston

John H Livingston

Publications by authors named "John H Livingston"

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43Publications

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Whole Exon Deletion in the GFAP Gene Is a Novel Molecular Mechanism Causing Alexander Disease.

Neuropediatrics 2018 Apr 18;49(2):118-122. Epub 2017 Dec 18.

Department of Paediatric Neurology, Leeds Teaching Hospitals NHS Trust, Leeds, United Kingdom.

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April 2018

Leukoencephalopathy with calcification and cysts: A cerebral microangiopathy caused by mutations in SNORD118.

J Neurol Sci 2017 Jan 24;372:443. Epub 2016 Oct 24.

Institut Imagine, Hôpital Necker, Paris, France.

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January 2017

Neurologic Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, and IFIH1: Aicardi-Goutières Syndrome and Beyond.

Neuropediatrics 2016 Dec 19;47(6):355-360. Epub 2016 Sep 19.

Laboratory of Neurogenetics and Neuroinflammation, Institut Imagine, Paris Descartes-Sorbonne Paris Cité University, Paris, France.

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December 2016

Clinical, radiological and possible pathological overlap of cystic leukoencephalopathy without megalencephaly and Aicardi-Goutières syndrome.

Eur J Paediatr Neurol 2016 Jul 7;20(4):604-10. Epub 2016 Apr 7.

Manchester Centre for Genomic Medicine, Institute of Human Development Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, United Kingdom; INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris, France; Paris Descartes, Sorbonne Paris Cité University, Institute Imagine, Paris, France.

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July 2016

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

Authors:
Yanick J Crow Diana S Chase Johanna Lowenstein Schmidt Marcin Szynkiewicz Gabriella M A Forte Hannah L Gornall Anthony Oojageer Beverley Anderson Amy Pizzino Guy Helman Mohamed S Abdel-Hamid Ghada M Abdel-Salam Sam Ackroyd Alec Aeby Guillermo Agosta Catherine Albin Stavit Allon-Shalev Montse Arellano Giada Ariaudo Vijay Aswani Riyana Babul-Hirji Eileen M Baildam Nadia Bahi-Buisson Kathryn M Bailey Christine Barnerias Magalie Barth Roberta Battini Michael W Beresford Geneviève Bernard Marika Bianchi Thierry Billette de Villemeur Edward M Blair Miriam Bloom Alberto B Burlina Maria Luisa Carpanelli Daniel R Carvalho Manuel Castro-Gago Anna Cavallini Cristina Cereda Kate E Chandler David A Chitayat Abigail E Collins Concepcion Sierra Corcoles Nuno J V 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 Ines Denzler Isabelle Desguerre Koenraad Devriendt Maja Di Rocco Michael C Fahey Elisa Fazzi Colin D Ferrie António Figueiredo Blanca Gener Cyril Goizet Nirmala R Gowrinathan Kalpana Gowrishankar Donncha Hanrahan Bertrand Isidor Bülent Kara Nasaim Khan Mary D King Edwin P Kirk Ram Kumar Lieven Lagae Pierre Landrieu Heinz Lauffer Vincent Laugel Roberta La Piana Ming J Lim Jean-Pierre S-M Lin Tarja Linnankivi Mark T Mackay Daphna R Marom Charles Marques Lourenço Shane A McKee Isabella Moroni Jenny E V Morton Marie-Laure Moutard Kevin Murray Rima Nabbout Sheela Nampoothiri Noemi Nunez-Enamorado Patrick J Oades Ivana Olivieri John R Ostergaard Belén Pérez-Dueñas Julie S Prendiville Venkateswaran Ramesh Magnhild Rasmussen Luc Régal Federica Ricci Marlène Rio Diana Rodriguez Agathe Roubertie Elisabetta Salvatici Karin A Segers Gyanranjan P Sinha Doriette Soler Ronen Spiegel Tommy I Stödberg Rachel Straussberg Kathryn J Swoboda Mohnish Suri Uta Tacke Tiong Y Tan Johann te Water Naude Keng Wee Teik Maya Mary Thomas Marianne Till Davide Tonduti Enza Maria Valente Rudy Noel Van Coster Marjo S van der Knaap Grace Vassallo Raymon Vijzelaar Julie Vogt Geoffrey B Wallace Evangeline Wassmer Hannah J Webb William P Whitehouse Robyn N Whitney Maha S Zaki Sameer M Zuberi John H Livingston Flore Rozenberg Pierre Lebon Adeline Vanderver Simona Orcesi Gillian I Rice

Am J Med Genet A 2015 Feb 16;167A(2):296-312. Epub 2015 Jan 16.

INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris Descartes - Sorbonne Paris Cité University, Institut Imagine, Hôpital Necker, Paris, France; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, Manchester, UK.

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February 2015

Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia.

Neuropediatrics 2014 Dec 22;45(6):386-93. Epub 2014 Sep 22.

Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, United Kingdom.

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December 2014

Basal ganglia calcification in a patient with beta-propeller protein-associated neurodegeneration.

Pediatr Neurol 2014 Dec 6;51(6):843-5. Epub 2014 Sep 6.

Manchester Centre for Genomic Medicine, Institute of Human Development Faculty of Medical and Human Sciences; Manchester Academic Health Sciences Centre, University of Manchester, United Kingdom; INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Institut Imagine, Hôpital Necker, Paris, France; Paris Descartes University, Paris, France. Electronic address:

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December 2014

Intracranial calcification in childhood: a review of aetiologies and recognizable phenotypes.

Dev Med Child Neurol 2014 Jul 30;56(7):612-26. Epub 2013 Dec 30.

Department of Paediatric Neurology, Leeds Teaching Hospitals NHS Trust, Leeds, UK.

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July 2014

Cause and outcome of cerebellar mutism: evidence from a systematic review.

Childs Nerv Syst 2014 Mar 23;30(3):375-85. Epub 2014 Jan 23.

Paediatric Neuropsychology, The Leeds Teaching Hospitals NHS Trust, Leeds General Infirmary, Great George Street, Leeds, LS1 3EX, UK.

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March 2014

Recognizable phenotypes associated with intracranial calcification.

Dev Med Child Neurol 2013 Jan 1;55(1):46-57. Epub 2012 Nov 1.

Department of Paediatric Neurology, Leeds General Infirmary, Leeds, UK.

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January 2013

COL4A1-related disease: raised creatine kinase and cerebral calcification as useful pointers.

Neuropediatrics 2012 Oct 29;43(5):283-8. Epub 2012 Aug 29.

Child Neurology and Psychiatry Unit, C. Mondino National Institute of Neurology Foundation, IRCCS, Pavia, Italy.

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October 2012

Intracranial calcification in early infantile Krabbe disease: nothing new under the sun.

Dev Med Child Neurol 2012 Apr 8;54(4):376-9. Epub 2011 Dec 8.

Department of Paediatric Neurology, Leeds General Infirmary, Leeds, UK.

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April 2012

Recovery of consciousness following acute symptomatic seizures due to central nervous system infections in children.

Dev Med Child Neurol 2012 Apr 21;54(4):324-7. Epub 2012 Feb 21.

School of Medicine, University of Leeds, Leeds, UK.

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April 2012

Poems by children as patient-reported outcomes.

Dev Med Child Neurol 2012 Jan 1;54(1):52-3. Epub 2011 Dec 1.

Department of Paediatric Neurology, The Leeds Teaching Hospitals NHS Trust, Leeds, UK.

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January 2012

Bradycardia without associated hypertension: a common sign of ventriculo-peritoneal shunt malfunction.

Childs Nerv Syst 2011 May 30;27(5):729-33. Epub 2010 Oct 30.

Department of Paediatric Neurology, Brotherton Wing, Leeds General Infirmary, Leeds, LS1 3EX, UK.

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May 2011

Alexander disease with periventricular calcification: a novel mutation of the GFAP gene.

Dev Med Child Neurol 2010 Dec 21;52(12):1160-3. Epub 2010 Oct 21.

Dingley Specialist Children's Centre, Royal Berkshire Hospital, Reading, UK.

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December 2010

New subtype of familial intracranial calcification in a mother and two children.

Am J Med Genet A 2010 Apr;152A(4):943-6

Section of Pediatric Neurology, Department of Pediatrics, Hamad Medical Corporation and Weil-Cornell Medical College, Doha, Qatar.

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April 2010

Aicardi-Goutières syndrome: an important Mendelian mimic of congenital infection.

Dev Med Child Neurol 2008 Jun 14;50(6):410-6. Epub 2008 Apr 14.

Wellcome Trust Brenner Building, Leeds Institute of Molecular Medicine, St James's University Hospital, Leeds, West Yorkshire, UK.

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June 2008

Clinical and molecular phenotype of Aicardi-Goutieres syndrome.

Authors:
Gillian Rice Teresa Patrick Rekha Parmar Claire F Taylor Alec Aeby Jean Aicardi Rafael Artuch Simon Attard Montalto Carlos A Bacino Bruno Barroso Peter Baxter Willam S Benko Carsten Bergmann Enrico Bertini Roberta Biancheri Edward M Blair Nenad Blau David T Bonthron Tracy Briggs Louise A Brueton Han G Brunner Christopher J Burke Ian M Carr Daniel R Carvalho Kate E Chandler Hans-Jurgen Christen Peter C Corry Frances M Cowan Helen Cox Stefano D'Arrigo John Dean Corinne De Laet Claudine De Praeter Catherine Dery Colin D Ferrie Kim Flintoff Suzanna G M Frints Angels Garcia-Cazorla Blanca Gener Cyril Goizet Francoise Goutieres Andrew J Green Agnes Guet Ben C J Hamel Bruce E Hayward Arvid Heiberg Raoul C Hennekam Marie Husson Andrew P Jackson Rasieka Jayatunga Yong-Hui Jiang Sarina G Kant Amy Kao Mary D King Helen M Kingston Joerg Klepper Marjo S van der Knaap Andrew J Kornberg Dieter Kotzot Wilfried Kratzer Didier Lacombe Lieven Lagae Pierre Georges Landrieu Giovanni Lanzi Andrea Leitch Ming J Lim John H Livingston Charles M Lourenco E G Hermione Lyall Sally A Lynch Michael J Lyons Daphna Marom John P McClure Robert McWilliam Serge B Melancon Leena D Mewasingh Marie-Laure Moutard Ken K Nischal John R Ostergaard Julie Prendiville Magnhild Rasmussen R Curtis Rogers Dominique Roland Elisabeth M Rosser Kevin Rostasy Agathe Roubertie Amparo Sanchis Raphael Schiffmann Sabine Scholl-Burgi Sunita Seal Stavit A Shalev C Sierra Corcoles Gyan P Sinha Doriette Soler Ronen Spiegel John B P Stephenson Uta Tacke Tiong Yang Tan Marianne Till John L Tolmie Pam Tomlin Federica Vagnarelli Enza Maria Valente Rudy N A Van Coster Nathalie Van der Aa Adeline Vanderver Johannes S H Vles Thomas Voit Evangeline Wassmer Bernhard Weschke Margo L Whiteford Michel A A Willemsen Andreas Zankl Sameer M Zuberi Simona Orcesi Elisa Fazzi Pierre Lebon Yanick J Crow

Am J Hum Genet 2007 Oct 4;81(4):713-25. Epub 2007 Sep 4.

Leeds Institute of Molecular Medicine, St James's University Hospital, Leeds, LS9 7TF, UK.

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October 2007

Epilepsy and evidence-based medicine: a vote of confidence in expert opinion from the National Institute for Clinical Excellence?

Dev Med Child Neurol 2005 Mar;47(3):204-6

Department of Paediatric Neurology, Clarendon Wing, The General Infirmary at Leeds, Leeds LS2 9NS, UK.

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March 2005