Inherited metabolic diseases mimicking hereditary spastic paraplegia (HSP): a chance for treatment Hélio A. G. TeiveCarlos Henrique F. CamargoRenato P. Munhoz Review Article 09 April 2022 Pages: 167 - 177
Identification of a 5 bp duplicate in the AP1S2 gene of an individual with X-linked intellectual disability Dengna ZhuMingmei WangZuozhen Yang Original Article 07 April 2022 Pages: 179 - 185
Clinical, genetic profile and disease progression of sarcoglycanopathies in a large cohort from India: high prevalence of SGCB c.544A > C Mainak BardhanRam Murthy AnjanappaAtchayaram Nalini Original Article 13 April 2022 Pages: 187 - 202
A novel nonsense variant in EXOC8 underlies a neurodevelopmental disorder Asmat UllahJai KrishinSulman Basit Original Article 23 April 2022 Pages: 203 - 212
Molecular characterization of Turkish patients with demyelinating Charcot-Marie-Tooth disease Taner KarakayaAyberk TurkyilmazYasemin Akin Original Article 13 May 2022 Pages: 213 - 221
Genetic analysis of 18 families with tuberous sclerosis complex Kaili YinNan LinXue Zhang Original Article 21 May 2022 Pages: 223 - 230