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Orphanet Journal of Rare Diseases|October 11, 2012
The French Gaucher's disease registry: clinical characteristics, complications and treatment of 562 patientsJérôme Stirnemann, Marie Vigan, Dalil Hamroun, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 7, 2023
ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizuresElena Poggio, Lucia Barazzuol, Andrea Salmaso, et al.
Human Mutation|February 18, 2021
The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2)Gijs A C Franken, Dominik Müller, Cyril Mignot, et al.
Science (New York, N.Y.)|September 16, 2006
Herpes simplex virus encephalitis in human UNC-93B deficiencyArmanda Casrouge, Shen-Ying Zhang, Céline Eidenschenk, et al.
Sleep|June 13, 2022
Increased incidence of pediatric narcolepsy following the 2009 H1N1 pandemic: a report from the pediatric working group of the sleep research networkNarong Simakajornboon, Emmanuel Mignot, Kiran Maski, et al.
Nature Medicine|August 21, 2007
Toll-like receptor 4-dependent contribution of the immune system to anticancer chemotherapy and radiotherapyLionel Apetoh, François Ghiringhelli, Antoine Tesniere, et al.
Epilepsia|April 27, 2019
Clinical study of 19 patients with SCN8A-related epilepsy: Two modes of onset regarding EEG and seizuresJulien Denis, Nathalie Villeneuve, Pierre Cacciagli, et al.
Sleep Advances : a Journal of the Sleep Research Society|June 16, 2025
Probability estimation of narcolepsy type 1 in DTA mice using unlabeled EEG and EMG dataLaura Rose, Alexander Neergaard Zahid, Louise Piilgaard, et al.
American Journal of Medical Genetics. Part A|September 23, 2023
Growth charts in DYRK1A syndromePierre-Louis Lanvin, Thomas Goronflot, Bertrand Isidor, et al.
Human Mutation|June 5, 2010
Type I hyperprolinemia: genotype/phenotype correlationsAudrey Guilmatre, Solenn Legallic, Gary Steel, et al.
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