1. 255 SUNFISH part 2: risdiplam in type 2 and type 3 SMA. Issue 6 (27th May 2022) Authors: Servais, Laurent; Mercuri, Eugenio; Barisic, Nina; Boespflug-Tanguy, Odile; Deconinck, Nicolas; Fuerst-Recktenwald, Sabine; Fuhrer, Sibylle; Gerber, Marianne; Gorni, Ksenija; Day, John W Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 93:Issue 6(2022) Page Start: A87 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A qualitative awake EEG score for the diagnosis of continuous spike and waves during sleep (CSWS) syndrome in self-limited focal epilepsy (SFE): A case-control study. (January 2021) Authors: Aeby, Alec; Santalucia, Roberto; Van Hecke, Audrey; Nebbioso, Andrea; Vermeiren, Justine; Deconinck, Nicolas; De Tiège, Xavier; Van Bogaert, Patrick Journal: Seizure Issue: Volume 84(2021) Page Start: 34 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Anti-GQ1b antibody syndrome presenting as acute isolated bilateral ophthalmoplegia: Report on two patients and review of the literature. (May 2016) Authors: Guisset, François; Ferreiro, Christine; Voets, Serge; Sellier, Julie; Debaugnies, France; Corazza, Francis; Deconinck, Nicolas; Prigogine, Cynthia Journal: European journal of paediatric neurology Issue: Volume 20:Number 3(2016:May) Page Start: 439 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. ASC‐1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy. Issue 2 (27th December 2019) Authors: Villar‐Quiles, Rocío N.; Catervi, Fabio; Cabet, Eva; Juntas‐Morales, Raul; Genetti, Casie A.; Gidaro, Teresa; Koparir, Asuman; Yüksel, Adnan; Coppens, Sandra; Deconinck, Nicolas; Pierce‐Hoffman, Emma; Lornage, Xavière; Durigneux, Julien; Laporte, Jocelyn; Rendu, John; Romero, Norma B.; Beggs, Ala... Journal: Annals of neurology Issue: Volume 87:Issue 2(2020) Page Start: 217 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Basal Ganglia Dysmorphism in Patients With Aicardi Syndrome. (2nd March 2021) Authors: Masnada, Silvia; Pichiecchio, Anna; Formica, Manuela; Arrigoni, Filippo; Borrelli, Paola; Accorsi, Patrizia; Bonanni, Paolo; Borgatti, Renato; Bernardina, Bernardo Dalla; Danieli, Alberto; Darra, Francesca; Deconinck, Nicolas; De Giorgis, Valentina; Dulac, Olivier; Gataullina, Svetlana; Giordano,... Journal: Neurology Issue: Volume 96:Number 9(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. BCL11A frameshift mutation associated with dyspraxia and hypotonia affecting the fine, gross, oral, and speech motor systems. Issue 1 (27th September 2017) Authors: Soblet, Julie; Dimov, Ivan; Graf von Kalckreuth, Clemens; Cano‐Chervel, Julie; Baijot, Simon; Pelc, Karin; Sottiaux, Martine; Vilain, Catheline; Smits, Guillaume; Deconinck, Nicolas Journal: American journal of medical genetics Issue: Volume 176:Issue 1(2018) Page Start: 201 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Congenital Titinopathy: Comprehensive characterization and pathogenic insights. Issue 6 (27th July 2018) Authors: Oates, Emily C.; Jones, Kristi J.; Donkervoort, Sandra; Charlton, Amanda; Brammah, Susan; Smith, John E.; Ware, James S.; Yau, Kyle S.; Swanson, Lindsay C.; Whiffin, Nicola; Peduto, Anthony J.; Bournazos, Adam; Waddell, Leigh B.; Farrar, Michelle A.; Sampaio, Hugo A.; Teoh, Hooi Ling; Lamont, Phi... Journal: Annals of neurology Issue: Volume 83:Issue 6(2018) Page Start: 1105 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Duplication 2p16 is associated with perisylvian polymicrogyria. Issue 12 (29th October 2019) Authors: Amrom, Dina; Poduri, Annapurna; Goldman, Jennifer S.; Dan, Bernard; Deconinck, Nicolas; Pichon, Bruno; Nadaf, Javad; Andermann, Frederick; Andermann, Eva; Walsh, Christopher A.; Dobyns, William B. Journal: American journal of medical genetics Issue: Volume 179:Issue 12(2019) Page Start: 2343 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Financial cost and quality of life of patients with spinal muscular atrophy identified by symptoms or newborn screening. (8th June 2022) Authors: Dangouloff, Tamara; Hiligsmann, Mickael; Deconinck, Nicolas; D'Amico, Adèle; Seferian, Andreea M.; Boemer, François; Servais, Laurent Journal: Developmental medicine & child neurology Issue: Volume 65:Number 1(2023) Page Start: 67 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Improving autism screening in French-speaking countries: Validation of the Autism Discriminative Tool, a teacher-rated questionnaire for clinicians' use. (May 2019) Authors: Carlier, Sophie; Ducenne, Lesley; Leys, Christophe; Stanciu, Razvana; Deconinck, Nicolas; Wintgens, Anne; Orêve, Marie-Joëlle; Delvenne, Véronique Journal: Research in autism spectrum disorders Issue: Volume 61(2019) Page Start: 33 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗