Publications by authors named "Alec Aeby"

20Publications

Novel homozygous variant of carbonic anhydrase 8 gene expanding the phenotype of cerebellar ataxia, mental retardation, and disequilibrium syndrome subtype 3.

Am J Med Genet A 2020 Aug 18. Epub 2020 Aug 18.

Department of Pediatric Neurology, Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles (ULB), Brussels, Belgium.

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http://dx.doi.org/10.1002/ajmg.a.61805DOI Listing
August 2020

SCN1B-linked early infantile developmental and epileptic encephalopathy.

Ann Clin Transl Neurol 2019 12 11;6(12):2354-2367. Epub 2019 Nov 11.

Department of Pharmacology, University of Michigan Medical School, Ann Arbor, MI, 48109.

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http://dx.doi.org/10.1002/acn3.50921DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6917350PMC
December 2019

Recurrent episodes of myoglobinuria, mental retardation and seizures but no hemolysis in two brothers with phosphoglycerate kinase deficiency.

Neuromuscul Disord 2016 Mar 30;26(3):207-10. Epub 2015 Nov 30.

Neuromuscular Reference Centre, Department of Pediatric Neurology, Hôpital Erasme, Université Libre de Bruxelles (U.L.B.), Brussels, Belgium.

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http://dx.doi.org/10.1016/j.nmd.2015.11.008DOI Listing
March 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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http://dx.doi.org/10.1002/ajmg.a.36887DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4382202PMC
February 2015

Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.

Lancet Neurol 2013 Dec 30;12(12):1159-69. Epub 2013 Oct 30.

Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Sciences Centre (MAHSC), Manchester, UK.

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http://dx.doi.org/10.1016/S1474-4422(13)70258-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4349523PMC
December 2013

Language development at 2 years is correlated to brain microstructure in the left superior temporal gyrus at term equivalent age: a diffusion tensor imaging study.

Neuroimage 2013 Sep 11;78:145-51. Epub 2013 Apr 11.

Department of Pediatric Neurology, Université Libre de Bruxelles - ULB, Hôpital Erasme, Brussels, Belgium.

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http://dx.doi.org/10.1016/j.neuroimage.2013.03.076DOI Listing
September 2013

Nonlinear microstructural changes in the right superior temporal sulcus and lateral occipitotemporal gyrus between 35 and 43 weeks in the preterm brain.

Neuroimage 2012 Oct 17;63(1):104-10. Epub 2012 Jun 17.

Department of Pediatric Neurology, Université Libre de Bruxelles-Hôpital Erasme, Brussels, Belgium.

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http://dx.doi.org/10.1016/j.neuroimage.2012.06.013DOI Listing
October 2012

Primary angiitis of the central nervous system: neurologic deterioration despite treatment.

Pediatrics 2011 Apr 14;127(4):e1086-90. Epub 2011 Mar 14.

Department of Pediatric Neurology, Hôpital Erasme and Université Libre de Bruxelles, Brussels, Belgium.

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http://pediatrics.aappublications.org/cgi/doi/10.1542/peds.2
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http://dx.doi.org/10.1542/peds.2009-2729DOI Listing
April 2011

Cutaneous histopathological findings of Aicardi-Goutières syndrome, overlap with chilblain lupus.

J Cutan Pathol 2008 Aug 17;35(8):774-8. Epub 2008 Apr 17.

Département Interhospitalier Universitaire de Dermatologie, Brugmann/HUDERF/Saint-Pierre Hospitals, Université Libre de Bruxelles (ULB), Brussels, Belgium.

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http://doi.wiley.com/10.1111/j.1600-0560.2007.00900.x
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http://dx.doi.org/10.1111/j.1600-0560.2007.00900.xDOI Listing
August 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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http://dx.doi.org/10.1086/521373DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2227922PMC
October 2007

Mutation of a potassium channel-related gene in progressive myoclonic epilepsy.

Ann Neurol 2007 Jun;61(6):579-86

Department of Pediatric Neurology, Université Libre de Bruxelles, Hôpital Erasme, Brussels, Belgium.

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http://dx.doi.org/10.1002/ana.21121DOI Listing
June 2007

Coexistence of idiopathic rolandic epilepsy and CSWS in two families.

Epilepsia 2006 Oct;47(10):1723-7

Department of Pediatric Neurology, ULB-Hôspital Erasme, Université Libre de Brussels, Brussles, Belgium.

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http://doi.wiley.com/10.1111/j.1528-1167.2006.00644.x
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http://dx.doi.org/10.1111/j.1528-1167.2006.00644.xDOI Listing
October 2006

Posterior reversible encephalopathy syndrome revealing acute post-streptococcal glomerulonephritis.

J Child Neurol 2006 Mar;21(3):250-1

Department of Pediatric Neurology, Erasme Hospital, Université Libre de Bruxelles, Brussels, Belgium.

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http://dx.doi.org/10.2310/7010.2006.00057DOI Listing
March 2006

Levetiracetam efficacy in epileptic syndromes with continuous spikes and waves during slow sleep: experience in 12 cases.

Epilepsia 2005 Dec;46(12):1937-42

Department of Pediatric Neurology, Erasme Hospital, Université Libre de Bruxelles (ULB), Brussels, Belgium.

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http://doi.wiley.com/10.1111/j.1528-1167.2005.00337.x
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http://dx.doi.org/10.1111/j.1528-1167.2005.00337.xDOI Listing
December 2005

Methylergometrine poisoning in children: review of 34 cases.

J Toxicol Clin Toxicol 2003 ;41(3):249-53

Neonatal Intensive Care Unit, Children University Hospital Reine Fabiola, Free University of Brussels (U.L.B), Brussels, Belgium.

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http://dx.doi.org/10.1081/clt-120021107DOI Listing
July 2003