Expanding the genotype-phenotype spectrum of ISCA2-related multiple mitochondrial dysfunction syndrome-cavitating leukoencephalopathy and prolonged survival Tamar Gur HartmanKeren YosovichAyelet Zerem Original Article 18 May 2020 Pages: 243 - 249
Genetic Creutzfeldt-Jakob disease in Sardinia: a case series linked to the PRNP R208H mutation due to a single founder effect Marta MelisAndrea MolariGiovanni Defazio Original Article 26 May 2020 Pages: 251 - 257
A defect in GPI synthesis as a suggested mechanism for the role of ARV1 in intellectual disability and seizures Reeval SegelAdi AranPaul Renbaum Original Article 27 May 2020 Pages: 259 - 267
Novel familial IQSEC2 pathogenic sequence variant associated with neurodevelopmental disorders and epilepsy Marketa WayhelovaMichal RyzíPetr Kuglik Original Article 20 June 2020 Pages: 269 - 278
Compound heterozygosity for an expanded (GAA) and a (GAAGGA) repeat at FXN locus: from a diagnostic pitfall to potential clues to the pathogenesis of Friedreich ataxia Massimo SantoroAlessia PernaGabriella Silvestri Original Article 07 July 2020 Pages: 279 - 287
Metachromatic leukodystrophy genotypes in The Netherlands reveal novel pathogenic ARSA variants in non-Caucasian patients Shanice BeerepootSilvy J.M. van DoorenNicole I. Wolf Original Article Open access 07 July 2020 Pages: 289 - 299
Novel MTMR2 mutation causing severe Charcot-Marie-Tooth type 4B1 disease: a case report Daniel HalperinAviad SapirOhad S. Birk Short Communication 03 June 2020 Pages: 301 - 304
Is NIPA1-associated hereditary spastic paraplegia always ‘pure’? Further evidence of motor neurone disease and epilepsy as rare manifestations Matthew TantiDiane CairnsCarolyn Young Short Communication 05 June 2020 Pages: 305 - 308
