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 novel mutation in the ABCD1 gene of a Moroccan patient with X-linked adrenoleukodystrophy: case report. Issue 1 (December 2015) Authors: Karkar, Adnane; Barakat, Abdelhamid; Bakhchane, Amina; Fettah, Houda; Slassi, Ilham; Dorboz, Imen; Boespflug-Tanguy, Odile; Nadifi, Sellama Journal: BMC neurology Issue: Volume 15:Issue 1(2015) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Abnormal spindle-like microcephaly-associated (ASPM) mutations strongly disrupt neocortical structure but spare the hippocampus and long-term memory. (January 2016) Authors: Passemard, Sandrine; Verloes, Alain; Billette de Villemeur, Thierry; Boespflug-Tanguy, Odile; Hernandez, Karen; Laurent, Marion; Isidor, Bertrand; Alberti, Corinne; Pouvreau, Nathalie; Drunat, Séverine; Gérard, Bénédicte; El Ghouzzi, Vincent; Gallego, Jorge; Elmaleh-Bergès, Monique; Huttner, Wiel... Journal: Cortex Issue: Volume 74(2016) Page Start: 158 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Abnormal spindle-like microcephaly-associated (ASPM) mutations strongly disrupt neocortical structure but spare the hippocampus and long-term memory. (January 2016) Authors: Passemard, Sandrine; Verloes, Alain; Billette de Villemeur, Thierry; Boespflug-Tanguy, Odile; Hernandez, Karen; Laurent, Marion; Isidor, Bertrand; Alberti, Corinne; Pouvreau, Nathalie; Drunat, Séverine; Gérard, Bénédicte; El Ghouzzi, Vincent; Gallego, Jorge; Elmaleh-Bergès, Monique; Huttner, Wiel... Journal: Cortex Issue: Volume 74(2016) Page Start: 158 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Clinical, radiological and possible pathological overlap of cystic leukoencephalopathy without megalencephaly and Aicardi-Goutières syndrome. (July 2016) Authors: Tonduti, Davide; Orcesi, Simona; Jenkinson, Emma M.; Dorboz, Imen; Renaldo, Florence; Panteghini, Celeste; Rice, Gillian I.; Henneke, Marco; Livingston, John H.; Elmaleh, Monique; Burglen, Lydie; Willemsen, Michèl A.A.P.; Chiapparini, Luisa; Garavaglia, Barbara; Rodriguez, Diana; Boespflug-Tanguy... Journal: European journal of paediatric neurology Issue: Volume 20:Number 4(2016:Jul.) Page Start: 604 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Cystic leukoencephalopathy with cortical dysplasia related to LAMB1 mutations. (26th May 2015) Authors: Tonduti, Davide; Dorboz, Imen; Renaldo, Florence; Masliah-Planchon, Julien; Elmaleh-Bergès, Monique; Dalens, Hélène; Rodriguez, Diana; Boespflug-Tanguy, Odile Journal: Neurology Issue: Volume 84:Number 21(2015) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Dramatic efficacy of ofatumumab in refractory pediatric-onset AQP4-IgG neuromyelitis optica spectrum disorder. Issue 3 (May 2020) Authors: Maillart, Elisabeth; Renaldo, Florence; Papeix, Caroline; Deiva, Kumaran; Bonheur, Julie; Kwon, Teresa; Boespflug-Tanguy, Odile; Germanaud, David; Marignier, Romain Journal: Neurology Issue: Volume 7:Issue 3(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features. Issue 6 (4th April 2018) Authors: Miguet, Marguerite; Faivre, Laurence; Amiel, Jeanne; Nizon, Mathilde; Touraine, Renaud; Prieur, Fabienne; Pasquier, Laurent; Lefebvre, Mathilde; Thevenon, Julien; Dubourg, Christèle; Julia, Sophie; Sarret, Catherine; Remerand, Ganaëlle; Francannet, Christine; Laffargue, Fanny; Boespflug-Tanguy, O... Journal: Journal of medical genetics Issue: Volume 55:Issue 6(2018) Page Start: 359 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Genetic aspect of leukodystrophies in Moroccan population. (September 2019) Authors: Karkar, Adnane; Dorboz, Imen; Nadifi, Sellama; Boespflug-Tanguy, Odile Journal: IBRO reports Issue: Volume 6(2019)Supplement Page Start: S482 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Hereditary spastic paraplegia caused by the PLP1 'rumpshaker mutation'. Issue 6 (1st December 2009) Authors: Svenstrup, Kirsten; Giraud, Geneviève; Boespflug-Tanguy, Odile; Danielsen, Else R; Thomsen, Carsten; Rasmussen, Kirsten; Law, Ian; Vogel, Asmus; Stokholm, Jette; Crone, Clarissa; Hjermind, Lena E; Nielsen, Jørgen E Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 81:Issue 6(2010) Page Start: 666 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗