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JAMA Neurology|April 24, 2013
Hereditary ataxia and spastic paraplegia in Portugal: a population-based prevalence studyPaula Coutinho, Luis Ruano, José L Loureiro, et al.
Epilepsia Open|January 14, 2025
PAK3 pathogenic variant associated with sleep-related hypermotor epilepsy in a family with parental mosaicismAntonio Gambardella, Yu-Chi Liu, Mark F Bennett, et al.
Genetics in Medicine Open|December 13, 2024
Improving genetic diagnostic yield in a large cohort of children with rare vascular anomalies or PIK3CA-related overgrowth spectrumTimothy E Green, Denisse Garza, Natasha J Brown, et al.
Genetics in Medicine Open|December 13, 2024
Mosaic variants detectable in blood extend the clinicogenetic spectrum of GLI3-related hypothalamic hamartomaTimothy E Green, Mark F Bennett, Ilka Immisch, et al.
Cell Reports|March 23, 2026
The insertion of an ATTTC repeat in an Alu element hyperactivates a neurodevelopmental enhancer in spinocerebellar ataxia type 37Joana R Loureiro, Ana F Castro, Ana S Figueiredo, et al.
Neurology. Genetics|January 31, 2022
Evidence for a Dual-Pathway, 2-Hit Genetic Model for Focal Cortical Dysplasia and EpilepsyMark F Bennett, Michael S Hildebrand, Sayaka Kayumi, et al.
JAMA Neurology|February 13, 2013
Autosomal dominant spastic paraplegias: a review of 89 families resulting from a portuguese surveyJosé Leal Loureiro, Eva Brandão, Luis Ruano, et al.
Neurology|October 3, 2022
Somatic Mosaic Pathogenic Variant Gradient Detected in Trace Brain Tissue From Stereo-EEG Depth ElectrodesZimeng Ye, Mark F Bennett, Andrew Neal, et al.
American Journal of Human Genetics|October 26, 2022
A founder event causing a dominant childhood epilepsy survives 800 years through weak selective pressureBronwyn E Grinton, Erandee Robertson, Liam G Fearnley, et al.
Brain : a Journal of Neurology|April 12, 2012
'Costa da Morte' ataxia is spinocerebellar ataxia 36: clinical and genetic characterizationMaría García-Murias, Beatriz Quintáns, Manuel Arias, et al.
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