WES homozygosity mapping in a recessive form of Charcot-Marie-Tooth neuropathy reveals intronic GDAP1 variant leading to a premature stop codon Marion MasingueJimmy PerrotTanya Stojkovic Original Article 02 February 2018 Pages: 67 - 76
In vitro efficacy of ARQ 092, an allosteric AKT inhibitor, on primary fibroblast cells derived from patients with PIK3CA-related overgrowth spectrum (PROS) C. RanieriS. Di TommasoNicoletta Resta Original Article Open access 16 March 2018 Pages: 77 - 91
MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype T. SmolF. PetitJamal Ghoumid Original Article 06 March 2018 Pages: 93 - 103
Genetic test utilization and diagnostic yield in adult patients with neurological disorders Tanya M. BardakjianIngo HelbigPedro Gonzalez-Alegre Original Article 28 March 2018 Pages: 105 - 110
The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes Lorena TravagliniChiara AielloFrancesco Nicita Original Article 24 April 2018 Pages: 111 - 121
Clinical and neuroimaging features of autosomal recessive spastic paraplegia 35 (SPG35): case reports, new mutations, and brief literature review Francesco MariBeatrice BertiFilippo Maria Santorelli Short Communication 08 February 2018 Pages: 123 - 130
Phenotypic manifestations of the m.8969G>A variant Josef FinstererSinda Zarrouk-Mahjoub Letter to Editor 26 February 2018 Pages: 131 - 132
Reply to ‘Letter to Editor by Finsterer J and Zarrouk-Mahjoub S: Phenotypic manifestations of the m.8969G>A variant’ Pirjo IsohanniChristopher J. CarrollAnu Suomalainen Letter to Editor 26 February 2018 Pages: 133 - 134