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Journal of Neurology, Neurosurgery, and Psychiatry|February 10, 2022
Diagnostic approach in adult-onset neurometabolic diseasesGorka Fernández-Eulate, Christophe Carreau, Jean-François Benoist, et al.
Biological Psychiatry|October 5, 2013
Two distinct amnesic profiles in behavioral variant frontotemporal dementiaMaxime Bertoux, Leonardo Cruz de Souza, Fabian Corlier, et al.
European Journal of Medical Genetics|August 19, 2017
Mutations in DDHD1, encoding a phospholipase A1, is a novel cause of retinopathy and neurodegeneration with brain iron accumulationRodolphe Dard, Claire Meyniel, Valérie Touitou, et al.
Molecular Genetics & Genomic Medicine|August 9, 2019
Strong increase of leukocyte apha-galactosidase A activity in two male patients with Fabry disease following oral chaperone therapyFoudil Lamari, Wladimir Mauhin, Fairouz Koraichi, et al.
Alzheimer'S & Dementia : the Journal of the Alzheimer'S Association|February 22, 2017
Free and Cued Selective Reminding Test - accuracy for the differential diagnosis of Alzheimer's and neurodegenerative diseases: A large-scale biomarker-characterized monocenter cohort study (ClinAD)Marc Teichmann, Stéphane Epelbaum, Dalila Samri, et al.
European Journal of Mass Spectrometry (Chichester, England)|January 23, 2024
Evaluation of SP3 for antibody-free quantification of tau in CSF mimic and brain by mass spectrometryChloé Jacquemin, Nicolas Villain, Rita Azevedo, et al.
The Analyst|September 26, 2019
Simultaneous quantification of tau and α-synuclein in cerebrospinal fluid by high-resolution mass spectrometry for differentiation of Lewy Body Dementia from Alzheimer's Disease and controlsArthur Viodé, Stéphane Epelbaum, Imen Benyounes, et al.
Neurology(R) Neuroimmunology & Neuroinflammation|October 13, 2021
Teriflunomide Promotes Oligodendroglial 8,9-Unsaturated Sterol Accumulation and CNS RemyelinationElodie Martin, Marie-Stephane Aigrot, Foudil Lamari, et al.
Journal of Inherited Metabolic Disease|March 22, 2018
Treatment with chenodeoxycholic acid in cerebrotendinous xanthomatosis: clinical, neurophysiological, and quantitative brain structural outcomesMaria Del Mar Amador, Marion Masingue, Rabab Debs, et al.
Orphanet Journal of Rare Diseases|April 17, 2016
Natural history of cerebrotendinous xanthomatosis: a paediatric disease diagnosed in adulthoodBertrand Degos, Yann Nadjar, Maria del Mar Amador, et al.
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