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Journal of Inherited Metabolic Disease|April 16, 2024
Mass cytometry reveals atypical immune profile notably impaired maturation of memory CD4 T with Gb3-related CD27 expression in CD4 T cells in Fabry diseaseWladimir Mauhin, Gaelle Dzangue-Tchoupou, Damien Amelin, et al.Brain : a Journal of Neurology|December 20, 2019
Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanismsVincent Huin, Mathieu Barbier, Armand Bottani, et al.Journal of Inherited Metabolic Disease|January 8, 2026
MRPS Genes Causing Leukoencephalopathy With Profound Cerebral Folate Deficiency in AdultsDaniele Mandia, Metodi D Metodiev, Jean-François Benoist, et al.Clinica Chimica Acta; International Journal of Clinical Chemistry|February 25, 2018
Metabolic causes of nonimmune hydrops fetalis: A next-generation sequencing panel as a first-line investigationBénédicte Sudrié-Arnaud, Florent Marguet, Sophie Patrier, et al.Neurology|February 16, 2018
Cerebral microbleeds and CSF Alzheimer biomarkers in primary progressive aphasiasAline Mendes, Anne Bertrand, Foudil Lamari, et al.American Journal of Human Genetics|January 22, 2013
Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegiaElodie Martin, Rebecca Schüle, Katrien Smets, et al.Plos One|May 23, 2020
Cornea verticillata and acroparesthesia efficiently discriminate clusters of severity in Fabry diseaseWladimir Mauhin, Olivier Benveniste, Damien Amelin, et al.Journal of Neurology|June 28, 2020
High diagnostic value of plasma Niemann-Pick type C biomarkers in adults with selected neurological and/or psychiatric disordersDaniele Mandia, Marion Plaze, Isabelle Le Ber, et al.Orphanet Journal of Rare Diseases|August 2, 2018
Deep characterization of the anti-drug antibodies developed in Fabry disease patients, a prospective analysis from the French multicenter cohort FFABRYWladimir Mauhin, Olivier Lidove, Damien Amelin, et al.Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration|June 20, 2020
A multi-center study of neurofilament assay reliability and inter-laboratory variabilityElizabeth Gray, Patrick Oeckl, Maria D M Amador, et al.Pageof 10