1. 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) ↗
2. 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) ↗
3. 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) ↗
4. Evaluation of CSF1R‐related adult onset leukoencephalopathy with axonal spheroids and pigmented glia diagnostic criteria. (28th September 2021) Authors: Ayrignac, Xavier; Carra‐Dallière, Clarisse; Codjia, Pekes; Mouzat, Kevin; Castelnovo, Giovanni; Ellie, Emmanuel; Etcharry‐Bouyx, Frédérique; Belliard, Serge; Marelli, Cecilia; Portet, Florence; Le Ber, Isabelle; Durand‐Dubief, Francoise; Mathey, Guillaume; Stankoff, Bruno; Dorboz, Imen; Drunat, S... Journal: European journal of neurology Issue: Volume 29:Number 1(2022) Page Start: 329 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Expanding and Underscoring the Hepato‐Encephalopathic Phenotype of QIL1/MIC13. Issue 3 (16th May 2019) Authors: Russell, Bianca E.; Whaley, Kaitlin G.; Bove, Kevin E.; Labilloy, Anatalia; Lombardo, Rachel C.; Hopkin, Robert J.; Leslie, Nancy D.; Prada, Carlos; Assouline, Zahra; Barcia, Giulia; Bouchereau, Juliette; Chomton, Maryline; Debray, Dominique; Dorboz, Imen; Durand, Philippe; Gaignard, Pauline; Hab... Journal: Hepatology Issue: Volume 70:Issue 3(2019) Page Start: 1066 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. 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) ↗
7. Genome sequencing in persistently unsolved white matter disorders. Issue 1 (7th January 2020) Authors: Helman, Guy; Lajoie, Bryan R.; Crawford, Joanna; Takanohashi, Asako; Walkiewicz, Marzena; Dolzhenko, Egor; Gross, Andrew M.; Gainullin, Vladimir G.; Bent, Stephen J.; Jenkinson, Emma M.; Ferdinandusse, Sacha; Waterham, Hans R.; Dorboz, Imen; Bertini, Enrico; Miyake, Noriko; Wolf, Nicole I.; Abbin... Journal: Annals of clinical and translational neurology Issue: Volume 7:Issue 1(2020) Page Start: 144 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Novel POLR1C mutation in RNA polymerase III‐related leukodystrophy with severe myoclonus and dystonia. Issue 9 (31st July 2019) Authors: Kraoua, Ichraf; Karkar, Adnane; Drissi, Cyrine; Benrhouma, Hanene; Klaa, Hedia; Samaan, Simon; Renaldo, Florence; Elmaleh, Monique; Ben Hamouda, Mohamed; Abdelhak, Sonia; Boespflug‐Tanguy, Odile; Ben Youssef‐Turki, Ilfghem; Dorboz, Imen Journal: Molecular genetics & genomic medicine Issue: Volume 7:Issue 9(2019) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. SLC13A3 variants cause acute reversible leukoencephalopathy and α‐ketoglutarate accumulation. Issue 3 (29th January 2019) Authors: Dewulf, Joseph P.; Wiame, Elsa; Dorboz, Imen; Elmaleh‐Bergès, Monique; Imbard, Apolline; Dumitriu, Dana; Rak, Malgorzata; Bourillon, Agnès; Helaers, Raphaël; Malla, Alisha; Renaldo, Florence; Boespflug‐Tanguy, Odile; Vincent, Marie‐Françoise; Benoist, Jean‐François; Wevers, Ron A.; Schlessinger, ... Journal: Annals of neurology Issue: Volume 85:Issue 3(2019) Page Start: 385 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patients. (March 2016) Authors: Tonduti, Davide; Aiello, Chiara; Renaldo, Florence; Dorboz, Imen; Saaman, Simon; Rodriguez, Diana; Fettah, Houda; Elmaleh, Monique; Biancheri, Roberta; Barresi, Sabina; Boccone, Loredana; Orcesi, Simona; Pichiecchio, Anna; Zangaglia, Roberta; Maurey, Hélène; Rossi, Andrea; Boespflug-Tanguy, Odile... Journal: European journal of paediatric neurology Issue: Volume 20:Number 2(2016:Mar.) Page Start: 323 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗