A novel homozygous variant in RNF170 causes hereditary spastic paraplegia: a case report and review of the literature Eliane ChoueryCybel MehawejAndre Megarbane Original Article 18 January 2022 Pages: 85 - 90
Altered pituitary morphology as a sign of benign hereditary chorea caused by TITF1/NKX2.1 mutations Steffi ThustLiana VenezianoPaola Giunti Original Article Open access 25 January 2022 Pages: 91 - 102
Experiences in the molecular genetic and histopathological evaluation of calpainopathies Berk OzyilmazOzgur KirbiyikGulden Diniz Original Article 14 February 2022 Pages: 103 - 114
Clinical, neuroradiological, and molecular characterization of patients with atypical Zellweger spectrum disorder caused by PEX16 mutations: a case series Anthony CheungCatherine ArgyriouNancy Braverman Original Article 02 February 2022 Pages: 115 - 127
An intronic GNAO1 variant leading to in-frame insertion cause movement disorder controlled by deep brain stimulation Sachiko MiyamotoMitsuko NakashimaHirotomo Saitsu Original Article 11 February 2022 Pages: 129 - 135
Detection of copy number variants and genes by chromosomal microarray in an Emirati neurodevelopmental disorders cohort Nasna NassirIsra SatiAmmar Albanna Original Article 24 March 2022 Pages: 137 - 149
Novel biallelic variants in NRROS associated with a lethal microgliopathy, brain calcifications, and neurodegeneration Julia MacintoshAlexa DerksenGeneviève Bernard Short Communication 31 January 2022 Pages: 151 - 156
A novel compound heterozygous mutation in GALC associated with adult-onset Krabbe disease: case report and literature review Salvatore IaconoElda Del GiudiceRossella Spataro Short Communication 10 January 2022 Pages: 157 - 165