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JAMA Neurology|December 30, 2014
Posterior cortical atrophy as an extreme phenotype of GRN mutationsPaola Caroppo, Catherine Belin, David Grabli, et al.
Orphanet Journal of Rare Diseases|December 13, 2022
Prospective cholestanol screening of cerebrotendinous xanthomatosis among patients with juvenile-onset unexplained bilateral cataractsGorka Fernández-Eulate, Gilles C Martin, Pascal Dureau, et al.
Neuroimage. Clinical|October 20, 2018
Atrophy, metabolism and cognition in the posterior cortical atrophy spectrum based on Alzheimer's disease cerebrospinal fluid biomarkersMaxime Montembeault, Simona M Brambati, Foudil Lamari, et al.
Journal of Neurology|May 23, 2019
Cholic acid as a treatment for cerebrotendinous xanthomatosis in adultsDaniele Mandia, Annabelle Chaussenot, Gérard Besson, et al.
La Revue De Medecine Interne|August 14, 2025
[Fabry disease during the last 20 years: Analysis of a cohort of 107 patients, and focus on the F113L variant]Olivier Lidove, Benjamin Subran, Camille Montardi, et al.
Journal of Hepatology|August 14, 2016
Cerebrospinal fluid metabolomics highlights dysregulation of energy metabolism in overt hepatic encephalopathyNicolas Weiss, Pierre Barbier Saint Hilaire, Benoit Colsch, et al.
Archives of Neurology|June 20, 2012
Distinct patterns of antiamyloid-β antibodies in typical and atypical Alzheimer diseaseGuillaume Dorothée, Michel Bottlaender, Edmond Moukari, et al.
Scandinavian Journal of Clinical and Laboratory Investigation|January 23, 2015
Hemolysis indexes for biochemical tests and immunoassays on Roche analyzers: determination of allowable interference limits according to different calculation methodsDenis Monneret, Fouzi Mestari, Gregory Atlan, et al.
Annales De Biologie Clinique|February 15, 2021
[Usefulness of combined sequencing of the mitochondrial genome and a targeted panel of nuclear genes involved in mitochondrial diseases]Benoit Rucheton, Flavie Ader, David Goudenege, et al.
Molecular Genetics and Metabolism|January 29, 2023
Plasma GM2 ganglioside potential biomarker for diagnosis, prognosis and disease monitoring of GM2-GangliosidosisAmélie Blondel, Ichraf Kraoua, Chloé Marcelino, et al.
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