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Molecular Genetics and Metabolism|May 8, 2025
250 cases of "type 2 Gaucher disease": A novel system of clinical categorisation and evidence of genotype: Phenotype correlationA Donald, S Brothwell, B M Cabello, et al.Human Molecular Genetics|June 19, 2019
Cross-disorder analysis of schizophrenia and 19 immune-mediated diseases identifies shared genetic riskJennie G Pouget, , Buhm Han, et al.Brain : a Journal of Neurology|December 27, 2013
The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardationMartial Mallaret, Matthis Synofzik, Jaeho Lee, et al.Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology|February 9, 2026
Characteristics of sudden cardiac arrest during endurance racing: a decade of the Paris registryRichard Chocron, Thomas Laurenceau, Pierre Cezard, et al.NPJ Digital Medicine|October 30, 2025
Actigraphy-based detection of isolated REM sleep behavior disorder: multicenter validation across devices and populationsLi Zhou, Andreas Brink-Kjaer, Katarina Gunter, et al.Journal of Medical Genetics|October 25, 2023
Further characterisation of <i>ARX</i>-related disorders in females due to inherited or de novo variantsMathilde Gras, Solveig Heide, Boris Keren, et al.NPJ Parkinson'S Disease|September 22, 2021
Fine mapping of the HLA locus in Parkinson's disease in EuropeansEric Yu, Aditya Ambati, Maren Stolp Andersen, et al.Pediatric Neurology|June 27, 2024
Epilepsy as a Novel Phenotype of BPTF-Related DisordersAlessandro Ferretti, Margherita Furlan, Kevin E Glinton, et al.Neurology(R) Neuroimmunology & Neuroinflammation|August 8, 2022
Cerebellar Ataxia With Anti-DNER Antibodies: Outcomes and Immunologic FeaturesElise Peter, Le Duy Do, Salem Hannoun, et al.The Journal of Clinical Investigation|January 23, 2010
Membrane-associated Hsp72 from tumor-derived exosomes mediates STAT3-dependent immunosuppressive function of mouse and human myeloid-derived suppressor cellsFanny Chalmin, Sylvain Ladoire, Grégoire Mignot, et al.Pageof 140