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Cell Reports|March 8, 2025
Haploinsufficiency of ITSN1 is associated with a substantial increased risk of Parkinson's diseaseThomas P Spargo, Chloe F Sands, Isabella R Juan, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|November 7, 2015
TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disabilityGali Heimer, Danit Oz-Levi, Eran Eyal, et al.
Plos Computational Biology|October 2, 2018
meaRtools: An R package for the analysis of neuronal networks recorded on microelectrode arraysSahar Gelfman, Quanli Wang, Yi-Fan Lu, et al.
Nature|February 23, 2010
ITPA gene variants protect against anaemia in patients treated for chronic hepatitis CJacques Fellay, Alexander J Thompson, Dongliang Ge, et al.
Annals of Neurology|May 21, 2013
Mutations in TNK2 in severe autosomal recessive infantile onset epilepsyYuki Hitomi, Erin L Heinzen, Simona Donatello, et al.
Epilepsia|March 26, 2018
A comprehensive approach to identifying repurposed drugs to treat SCN8A epilepsyTalia A Atkin, Chani M Maher, Aaron C Gerlach, et al.
Annals of Neurology|March 3, 2004
A functional polymorphism regulating dopamine beta-hydroxylase influences against Parkinson's diseaseDaniel G Healy, Patrick M Abou-Sleiman, Tetsutaro Ozawa, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|January 22, 2008
Failure to replicate effect of Kibra on human memory in two large cohorts of European originAnna C Need, Deborah K Attix, Jill M McEvoy, et al.
Annals of Neurology|March 5, 2014
KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidineCarol J Milligan, Melody Li, Elena V Gazina, et al.
Plos Genetics|June 26, 2010
Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease geneNara L M Sobreira, Elizabeth T Cirulli, Dimitrios Avramopoulos, et al.
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