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Human Genetics|July 3, 2007
A novel locus for autosomal dominant "uncomplicated" hereditary spastic paraplegia maps to chromosome 8p21.1-q13.3Sylvain Hanein, Alexandra Dürr, Pascale Ribai, et al.European Journal of Medical Genetics|February 3, 2015
DYRK1A mutations in two unrelated patientsLyse Ruaud, Cyril Mignot, Agnès Guët, et al.Journal of Molecular Medicine (Berlin, Germany)|April 21, 2011
Lafora progressive myoclonus epilepsy: NHLRC1 mutations affect glycogen metabolismPhilippe Couarch, Santiago Vernia, Isabelle Gourfinkel-An, et al.Skeletal Muscle|July 18, 2024
Skeletal muscle vulnerability in a child with Pitt-Hopkins syndromeCeline Chiu, Alma Küchler, Christel Depienne, et al.European Journal of Medical Genetics|July 30, 2013
SNP arrays in Beckwith-Wiedemann syndrome: an improved diagnostic strategyBoris Keren, Sandra Chantot-Bastaraud, Frédéric Brioude, et al.Translational Psychiatry|May 6, 2020
A standardized patient-centered characterization of the phenotypic spectrum of PCDH19 girls clustering epilepsyKristy L Kolc, Lynette G Sadleir, Christel Depienne, et al.Movement Disorders : Official Journal of the Movement Disorder Society|April 9, 2025
Repeat Expansions with Small TTTCA Insertions in MARCHF6 Cause Familial Myoclonus without EpilepsyTheresa Kühnel, Elsa Leitão, Renate Lunzer, et al.Epilepsy Research|September 8, 2009
CDKL5 and ARX mutations are not responsible for early onset severe myoclonic epilepsy in infancyRima Nabbout, Christel Depienne, Mathilde Chipaux, et al.Experimental Neurology|January 7, 2014
Annonacin, a natural lipophilic mitochondrial complex I inhibitor, increases phosphorylation of tau in the brain of FTDP-17 transgenic miceElizabeth S Yamada, Gesine Respondek, Stefanie Müssner, et al.Cells|December 24, 2021
Phenotypical and Myopathological Consequences of Compound Heterozygous Missense and Nonsense Variants in <i>SLC18A3</i>Adela Della Marina, Annabelle Arlt, Ulrike Schara-Schmidt, et al.Pageof 18