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Journal of Medical Genetics|October 3, 2023
Spectrum of LYST mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literatureMarie Morimoto, Elena-Raluca Nicoli, Chulaluck Kuptanon, et al.Human Mutation|September 1, 2005
Novel L2HGDH mutations in 21 patients with L-2-hydroxyglutaric aciduria of Portuguese originL Vilarinho, M L Cardoso, P Gaspar, et al.Biochemical Society Transactions|July 28, 2010
From tau phosphorylation to tau aggregation: what about neuronal death?Luc Buée, Laëtitia Troquier, Sylvie Burnouf, et al.Neurology|April 11, 2007
Stereotypies in Rett syndrome: analysis of 83 patients with and without detected MECP2 mutationsT Temudo, P Oliveira, M Santos, et al.Brain & Development|February 2, 2010
Rett syndrome with and without detected MECP2 mutations: an attempt to redefine phenotypesTeresa Temudo, Mónica Santos, Elisabete Ramos, et al.Neurology|September 19, 2008
Neurodegeneration associated with genetic defects in phospholipase A(2)A Gregory, S K Westaway, I E Holm, et al.Journal of Endocrinological Investigation|September 6, 2025
European survey on metabolic and cardiovascular risk in Cushing syndromeAlessandro Mondin, Mattia Barbot, Filippo Ceccato, et al.Nutrients|August 26, 2022
Putative Biomarkers of Environmental Enteric Disease Fail to Correlate in a Cross-Sectional Study in Two Study Sites in Sub-Saharan AfricaPascale Vonaesch, Munir Winkel, Nathalie Kapel, et al.Neurobiology of Disease|May 17, 2011
Beneficial effects of exercise in a transgenic mouse model of Alzheimer's disease-like Tau pathologyKarim Belarbi, Sylvie Burnouf, Francisco-Jose Fernandez-Gomez, et al.Archives of Neurology|April 10, 2002
Trinucleotide repeats in 202 families with ataxia: a small expanded (CAG)n allele at the SCA17 locusI Silveira, C Miranda, L Guimarães, et al.Pageof 59