OpenURL Connection Search

Select item for more details and to access through your institution.

Cutaneous histopathological findings of Aicardi–Goutières syndrome, overlap with chilblain lupus.
Published in:
Journal of Cutaneous Pathology, 2008, v. 35, n. 8, p. 774, doi. 10.1111/j.1600-0560.2007.00900.x
By:
- Kolivras, Athanassios;
- Aeby, Alec;
- Crow, Yanick J.;
- Rice, Gillian I.;
- Sass, Ursula;
- Andr, Josette
Publication type:
Article
Coexistence of Idiopathic Rolandic Epilepsy and CSWS in Two Families.
Published in:
Epilepsia (Series 4), 2006, v. 47, n. 10, p. 1723, doi. 10.1111/j.1528-1167.2006.00644.x
By:
- De Tiège, Xavier;
- Goldman, Serge;
- Verheulpen, Denis;
- Aeby, Alec;
- Poznanski, Nathalie;
- Van Bogaert, Patrick
Publication type:
Article
Levetiracetam Efficacy in Epileptic Syndromes with Continuous Spikes and Waves during Slow Sleep: Experience in 12 Cases.
Published in:
Epilepsia (Series 4), 2005, v. 46, n. 12, p. 1937, doi. 10.1111/j.1528-1167.2005.00337.x
By:
- Aeby, Alec;
- Poznanski, Nathalie;
- Verheulpen, Denis;
- Wetzburger, Catherine;
- Van Bogaert, Patrick
Publication type:
Article
Novel homozygous variant of carbonic anhydrase 8 gene expanding the phenotype of cerebellar ataxia, mental retardation, and disequilibrium syndrome subtype 3.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2685, doi. 10.1002/ajmg.a.61805
By:
- Paternoster, Lionel;
- Soblet, Julie;
- Aeby, Alec;
- De Tiège, Xavier;
- Goldman, Serge;
- Yue, Wyatt W.;
- Coppens, Sandra;
- Smits, Guillaume;
- Vilain, Catheline;
- Deconinck, Nicolas
Publication type:
Article
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 2, p. 296, doi. 10.1002/ajmg.a.36887
By:
- Crow, Yanick J.;
- Chase, Diana S.;
- Lowenstein Schmidt, Johanna;
- Szynkiewicz, Marcin;
- Forte, Gabriella M.A.;
- Gornall, Hannah L.;
- Oojageer, Anthony;
- Anderson, Beverley;
- Pizzino, Amy;
- Helman, Guy;
- Abdel‐Hamid, Mohamed S.;
- Abdel‐Salam, Ghada M.;
- Ackroyd, Sam;
- Aeby, Alec;
- Agosta, Guillermo;
- Albin, Catherine;
- Allon‐Shalev, Stavit;
- Arellano, Montse;
- Ariaudo, Giada;
- Aswani, Vijay
Publication type:
Article
Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response.
Published in:
Nature Genetics, 2009, v. 41, n. 7, p. 829, doi. 10.1038/ng.373
By:
- Rice, Gillian I.;
- Bond, Jacquelyn;
- Asipu, Aruna;
- Brunette, Rebecca L.;
- Manfield, Iain W.;
- Carr, Ian M.;
- Fuller, Jonathan C.;
- Jackson, Richard M.;
- Lamb, Teresa;
- Briggs, Tracy A.;
- Ali, Manir;
- Gornall, Hannah;
- Couthard, Lydia R.;
- Aeby, Alec;
- Attard-Montalto, Simon P.;
- Bertini, Enrico;
- Bodemer, Christine;
- Brockmann, Knut;
- Brueton, Louise A.;
- Corry, Peter C.
Publication type:
Article
Hippocampal sclerosis and epilepsy surgery in neurofibromatosis type 1: case report of a 3-year-old child explored by SEEG and review of the literature.
Published in:
2022
By:
- Sculier, Claudine;
- Taussig, Delphine;
- Aeby, Alec;
- Blustajn, Jerry;
- Bekaert, Olivier;
- Fohlen, Martine
Publication type:
Case Study
Treatment of Focal-Onset Seizures in Children: Should This Be More Etiology-Driven?
Published in:
Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.842276
By:
- Aeby, Alec;
- Ceulemans, Berten;
- Lagae, Lieven
Publication type:
Article
How the Spreading and Intensity of Interictal Epileptic Activity Are Associated with Visuo-Spatial Skills in Children with Self-Limited Focal Epilepsy with Centro-Temporal Spikes.
Published in:
Brain Sciences (2076-3425), 2023, v. 13, n. 11, p. 1566, doi. 10.3390/brainsci13111566
By:
- Dontaine, Pauline;
- Rouge, Coralie;
- Urbain, Charline;
- Galer, Sophie;
- Raffoul, Romain;
- Nonclercq, Antoine;
- Van Dyck, Dorine;
- Baijot, Simon;
- Aeby, Alec
Publication type:
Article
Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis.
Published in:
Brain: A Journal of Neurology, 2010, v. 133, n. 6, p. 1810, doi. 10.1093/brain/awq087
By:
- Willemsen, Michél A.;
- Verbeek, Marcel M.;
- Kamsteeg, Erik-Jan;
- de Rijk-van Andel, Johanneke F.;
- Aeby, Alec;
- Blau, Nenad;
- Burlina, Alberto;
- Donati, Maria A.;
- Geurtz, Ben;
- Grattan-Smith, Padraic J.;
- Haeussler, Martin;
- Hoffmann, Georg F.;
- Jung, Hans;
- de Klerk, Johannis B.;
- van der Knaap, Marjo S.;
- Kok, Fernando;
- Leuzzi, Vincenzo;
- de Lonlay, Pascale;
- Megarbane, Andre;
- Monaghan, Hugh
Publication type:
Article
Carbamazepine efficacy in a severe electro‐clinical presentation of SLC13A5‐epilepsy.
Published in:
Annals of Clinical & Translational Neurology, 2022, v. 9, n. 7, p. 1095, doi. 10.1002/acn3.51581
By:
- Santalucia, Roberto;
- Vilain, Catheline;
- Soblet, Julie;
- De Laet, Corinne;
- Vuckovic, Aline;
- König, Jörg;
- Aeby, Alec
Publication type:
Article
SCN1B‐linked early infantile developmental and epileptic encephalopathy.
Published in:
Annals of Clinical & Translational Neurology, 2019, v. 6, n. 12, p. 2354, doi. 10.1002/acn3.50921
By:
- Aeby, Alec;
- Sculier, Claudine;
- Bouza, Alexandra A.;
- Askar, Brandon;
- Lederer, Damien;
- Schoonjans, Anne‐Sofie;
- Vander Ghinst, Marc;
- Ceulemans, Berten;
- Offord, James;
- Lopez‐Santiago, Luis F.;
- Isom, Lori L.
Publication type:
Article
Cognitive, perceptual, and motor profiles of school-aged children with developmental coordination disorder.
Published in:
Frontiers in Psychology, 2022, v. 13, p. 1, doi. 10.3389/fpsyg.2022.860766
By:
- Van Dyck, Dorine;
- Baijot, Simon;
- Aeby, Alec;
- De Tiège, Xavier;
- Deconinck, Nicolas
Publication type:
Article
Mutation of a potassium channel–related gene in progressive myoclonic epilepsy.
Published in:
Annals of Neurology, 2007, v. 61, n. 6, p. 579, doi. 10.1002/ana.21121
By:
- Patrick Van Bogaert;
- Regis Azizieh;
- Julie Désir;
- Alec Aeby;
- Linda De Meirleir;
- Jean‐François Laes;
- Florence Christiaens;
- Marc J. Abramowicz
Publication type:
Article
Biallelic gephyrin variants lead to impaired GABAergic inhibition in a patient with developmental and epileptic encephalopathy.
Published in:
Human Molecular Genetics, 2022, v. 31, n. 6, p. 901, doi. 10.1093/hmg/ddab298
By:
- Macha, Arthur;
- Liebsch, Filip;
- Fricke, Steffen;
- Hetsch, Florian;
- Neuser, Franziska;
- Johannes, Lena;
- Kress, Vanessa;
- Djémié, Tania;
- Santamaria-Araujo, Jose A;
- Vilain, Catheline;
- Aeby, Alec;
- Bogaert, Patrick Van;
- Dejanovic, Borislav;
- Weckhuysen, Sarah;
- Meier, Jochen C;
- Schwarz, Guenter
Publication type:
Article
Posterior Reversible Encephalopathy Syndrome Revealing Acute Post-Streptococcal Glomerulonephritis.
Published in:
Journal of Child Neurology, 2006, v. 21, n. 3, p. 250, doi. 10.2310/7010.2006.00057
By:
- Aeby, Alec;
- David, Philippe;
- Fricx, Christophe;
- Jissendi, Patrice;
- Blecic, Serge;
- Van Bogaert, Patrick
Publication type:
Article
Persistent hydrocephalus after early surgical management of posterior fossa tumors in children: is routine preoperative endoscopic third ventriculostomy justified?
Published in:
Journal of Neurosurgery, 2005, v. 103, n. 3, p. 247, doi. 10.3171/ped.2005.103.3.0247
By:
- Morelli, Daniele;
- Pirotte, Benoit;
- Lubansu, Alphonse;
- Detemmerman, Dominique;
- Aeby, Alec;
- Fricx, Christophe;
- Berré, Jacques;
- David, Philippe;
- Brotchi, Jacques
Publication type:
Article

Found: 17