CTBP1 and CTBP2 mutations underpinning neurological disorders: a systematic review Natalia Acosta-BaenaJohanna Alexandra Tejada-MorenoCarlos Andrés Villegas-Lanau Review Open access 04 November 2022 Pages: 231 - 240
Reduced penetrance of an eastern French mutation in ATL1 autosomal-dominant inheritance (SPG3A): extended phenotypic spectrum coupled with brain 18F-FDG PET Armand HocquelJean-Marie RavelMathilde Renaud Original Article 05 July 2022 Pages: 241 - 255
Identification of a novel homozygous mutation in NAXE gene associated with early-onset progressive encephalopathy by whole-exome sequencing: in silico protein structure characterization, molecular docking, and dynamic simulation Marwa MaalejLamia SfaihiFaiza Fakhfakh Original Article 11 July 2022 Pages: 257 - 270
A Cockayne-like phenotype resulting from a de novo variant in MORC2: expanding the phenotype of MORC2-related disorders Amytice MirchiAlexa DerksenGeneviève Bernard Short Communication 03 August 2022 Pages: 271 - 274
Expanding the phenotypic spectrum of Dejerine-Sottas syndrome caused by the trembler mutation Mustafa JaffrySoumya BouchachiNizar Souayah Short Communication 16 August 2022 Pages: 275 - 277
Whole-exome sequencing reveals PSEN1 and ATP7B combined variants as a possible cause of early-onset Lewy body dementia: a case study of genotype–phenotype correlation Miguel Tábuas-PereiraRita GuerreiroIsabel Santana Short Communication 17 September 2022 Pages: 279 - 283
