1. Area Postrema Syndrome as the Initial Presentation of Alexander Disease. (14th September 2021) Authors: Renaldo, Florence; Chalard, François; Valence, Stephanie; Burglen, Lydie; Rodriguez, Diana Journal: Neurology Issue: Volume 97:Number 11(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. CACNA1A-associated epilepsy: Electroclinical findings and treatment response on seizures in 18 patients. (July 2021) Authors: Le Roux, Marie; Barth, Magalie; Gueden, Sophie; Desbordes de Cepoy, Patrick; Aeby, Alec; Vilain, Catheline; Hirsch, Edouard; de Saint Martin, Anne; Portes, Vincent des; Lesca, Gaëtan; Riquet, Audrey; Chaton, Laurence; Villeneuve, Nathalie; Villard, Laurent; Cances, Claude; Valton, Luc; Renaldo, F... Journal: European journal of paediatric neurology Issue: Volume 33(2021) Page Start: 75 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. 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) ↗
4. 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) ↗
5. 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) ↗
6. Involvement of interstitial telomeric sequences in two new cases of mosaicism for autosomal structural rearrangements. (26th November 2014) Authors: Lévy, Jonathan; Receveur, Aline; Jedraszak, Guillaume; Chantot‐Bastaraud, Sandra; Renaldo, Florence; Gondry, Jean; Andrieux, Joris; Copin, Henri; Siffroi, Jean‐Pierre; Portnoï, Marie‐France Journal: American journal of medical genetics Issue: Volume 167:Number 2(2015:Feb.) Page Start: 428 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Mortality and Neurologic Sequelae in Influenza-Associated Encephalopathy: Retrospective Multicenter PICU Cohort in France. Issue 11 (November 2021) Authors: Cleuziou, Pierre; Renaldo, Florence; Renolleau, Sylvain; Javouhey, Etienne; Tissieres, Pierre; Léger, Pierre-Louis; Bergounioux, Jean; Desguerre, Isabelle; Dauger, Stéphane; Levy, Michaël Journal: Pediatric critical care medicine Issue: Volume 22:Issue 11(2021) Page Start: 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) ↗