Customized multigene panels in epilepsy: the best things come in small packages Simona PellacaniClaudia DosiFilippo Maria Santorelli Review Article 13 December 2019 Pages: 1 - 18
Infectious stress triggers a POLG-related mitochondrial disease Paula GaudóSonia EmperadorMaría Pilar Bayona-Bafaluy Original Article 26 October 2019 Pages: 19 - 27
Giant axonal neuropathy: a multicenter retrospective study with genotypic spectrum expansion Andoni Echaniz-LagunaJean-Marie CuissetPhilippe Latour Original Article 26 October 2019 Pages: 29 - 37
A novel cysteine-sparing G73A mutation of NOTCH3 in a Chinese CADASIL family Liyan HuangWei LiXiulian Sun Original Article 13 November 2019 Pages: 39 - 49
Cerebellar cognitive-affective syndrome preceding ataxia associated with complex extrapyramidal features in a Turkish SCA48 family R. PalvadeauZ. E. Kaya-GüleçS. Ertan Original Article 19 November 2019 Pages: 51 - 58
Childhood-onset autosomal recessive ataxias: a cross-sectional study from Turkey Hatice Mutlu-AlbayrakEmre KıratGürkan Gürbüz Original Article 19 November 2019 Pages: 59 - 66
Neurodevelopmental phenotype associated with CHD8-SUPT16H duplication Thomas SmolCaroline ThuillierJamal Ghoumid Original Article 10 December 2019 Pages: 67 - 72
The first biallelic missense mutation in the FXN gene in a consanguineous Turkish family with Charcot-Marie-Tooth-like phenotype Ayşe CandayanGulshan YunisovaEsra Battaloğlu Short Communication 31 October 2019 Pages: 73 - 78