1. A juvenile ALS‐like phenotype dramatically improved after high‐dose riboflavin treatment. Issue 2 (5th February 2020) Authors: Carreau, Christophe; Lenglet, Timothée; Mosnier, Isabelle; Lahlou, Ghizlene; Fargeot, Guillaume; Weiss, Nicolas; Demeret, Sophie; Salachas, François; Veauville‐Merllié, Alice; Acquaviva, Cécile; Nadjar, Yann Journal: Annals of clinical and translational neurology Issue: Volume 7:Issue 2(2020) Page Start: 250 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Brain MRI features and scoring of leukodystrophy in adult-onset Krabbe disease. (13th August 2019) Authors: Cousyn, Louis; Law-Ye, Bruno; Pyatigorskaya, Nadya; Debs, Rabab; Froissart, Roseline; Piraud, Monique; Federico, Antonio; Salvatore, Simona; Cerase, Alfonso; Macário, Maria C.; Durães, João; Kim, Seung H.; Adachi, Hiroshi; Audoin, Bertrand; Ayrignac, Xavier; Da, Yuwei; Henderson, Robert; La Piana... Journal: Neurology Issue: Volume 93:Number 7(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Brain White Matter Lesions and Presumed Crohn's Disease: Did You Consider MNGIE?. (3rd July 2020) Authors: Cousyn, Louis; Boehm, Vanessa; Shor, Natalia; Treton, Xavier; Benamouzig, Robert; Gaignard, Pauline; Nadjar, Yann Journal: Canadian journal of neurological sciences Issue: Volume 47:Number 4(2020) Page Start: 572 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Development of a new tandem mass spectrometry method for urine and amniotic fluid screening of oligosaccharidoses. (15th May 2017) Authors: Piraud, Monique; Pettazzoni, Magali; Menegaut, Louise; Caillaud, Catherine; Nadjar, Yann; Vianey‐Saban, Christine; Froissart, Roseline Journal: Rapid communications in mass spectrometry Issue: Volume 31:Number 11(2017) Page Start: 951 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Diagnosis and management of hepatic encephalopathy: The French recommendations. (24th January 2023) Authors: Thabut, Dominique; Bouzbib, Charlotte; Meunier, Lucy; Haas, Manon; Weiss, Nicolas; Louvet, Alexandre; Imbert‐Bismut, Francois; Mochel, Fanny; Nadjar, Yann; Santiago, Antoine; Thevenot, Thierry; Duhalde, Véronique; Oberti, Frédéric; Francoz, Claire; Coilly, Audrey; Hilleret, Marie‐Noelle; Lebray, ... Journal: Liver international Issue: Volume 43:Number 4(2023) Page Start: 750 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Diagnostic approach in adult-onset neurometabolic diseases. Issue 4 (9th February 2022) Authors: Fernández-Eulate, Gorka; Carreau, Christophe; Benoist, Jean-François; Lamari, Foudil; Rucheton, Benoit; Shor, Natalia; Nadjar, Yann Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 93:Issue 4(2022) Page Start: 413 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Evolution of structural neuroimaging biomarkers in a series of adult patients with Niemann-Pick type C under treatment. Issue 1 (December 2017) Authors: Masingue, Marion; Adanyeguh, Isaac; Nadjar, Yann; Sedel, Frédéric; Galanaud, Damien; Mochel, Fanny Journal: Orphanet journal of rare diseases Issue: Volume 12:Issue 1(2017) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Genetic findings in adolescent and adult-onset leukodystrophies with hypomyelinating features. Issue 7 (2nd November 2018) Authors: Macaron, Gabrielle; Samaan, Simon; Cohen, Jeffrey A; Nadjar, Yann Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 90:Issue 7(2019) Page Start: 836 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Long‐term survival outcomes of patients with Niemann‐Pick disease type C receiving miglustat treatment: A large retrospective observational study. Issue 5 (8th May 2020) Authors: Patterson, Marc C.; Garver, William S.; Giugliani, Robert; Imrie, Jackie; Jahnova, Helena; Meaney, F John; Nadjar, Yann; Vanier, Marie T.; Moneuse, Patrick; Morand, Olivier; Rosenberg, Daniel; Schwierin, Barbara; Héron, Benedicte Journal: Journal of inherited metabolic disease Issue: Volume 43:Issue 5(2020) Page Start: 1060 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Mutation m.3395A > G in MT-ND1 leads to variable pathologic manifestations. (3rd February 2020) Authors: Gutiérrez Cortés, Nicolás; Pertuiset, Claire; Dumon, Elodie; Börlin, Marine; Da Costa, Barbara; Le Guédard, Marina; Stojkovic, Tanya; Loundon, Natalie; Rouillon, Isabelle; Nadjar, Yann; Letellier, Thierry; Jonard, Laurence; Marlin, Sandrine; Rocher, Christophe Journal: Human molecular genetics Issue: Volume 29:Number 6(2020) Page Start: 980 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗