1. Inherited metabolic diseases mimicking hereditary spastic paraplegia (HSP): a chance for treatment

   • Hélio A. G. Teive
   • Carlos Henrique F. Camargo
   • Renato P. Munhoz

   Review Article 09 April 2022 Pages: 167 - 177

   

2. Identification of a 5 bp duplicate in the AP1S2 gene of an individual with X-linked intellectual disability

   • Dengna Zhu
   • Mingmei Wang
   • Zuozhen Yang

   Original Article 07 April 2022 Pages: 179 - 185

   

3. Clinical, genetic profile and disease progression of sarcoglycanopathies in a large cohort from India: high prevalence of SGCB c.544A > C

   • Mainak Bardhan
   • Ram Murthy Anjanappa
   • Atchayaram Nalini

   Original Article 13 April 2022 Pages: 187 - 202

   

4. A novel nonsense variant in EXOC8 underlies a neurodevelopmental disorder

   • Asmat Ullah
   • Jai Krishin
   • Sulman Basit

   Original Article 23 April 2022 Pages: 203 - 212

   

5. Molecular characterization of Turkish patients with demyelinating Charcot-Marie-Tooth disease

   • Taner Karakaya
   • Ayberk Turkyilmaz
   • Yasemin Akin

   Original Article 13 May 2022 Pages: 213 - 221

   

6. Genetic analysis of 18 families with tuberous sclerosis complex

   • Kaili Yin
   • Nan Lin
   • Xue Zhang

   Original Article 21 May 2022 Pages: 223 - 230