Issue 3/2022
Content (6 Articles)
Inherited metabolic diseases mimicking hereditary spastic paraplegia (HSP): a chance for treatment
Hélio A. G. Teive, Carlos Henrique F. Camargo, Eduardo R. Pereira, Léo Coutinho, Renato P. Munhoz
Identification of a 5 bp duplicate in the AP1S2 gene of an individual with X-linked intellectual disability
Dengna Zhu, Mingmei Wang, Yiran Xu, Jiamei Zhang, Fan Yang, Zuozhen Yang
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, Kiran Polavarapu, Veeramani Preethish-Kumar, Seena Vengalil, Saraswati Nashi, Shamita Sanga, Hansashree Padmanabh, Ravi Kiran Valasani, Vikas Nishadham, Muddasu Keerthipriya, Thenral S. Geetha, Vedam Ramprasad, Gautham Arunachal, Priya Treesa Thomas, Moulinath Acharya, Atchayaram Nalini
A novel nonsense variant in EXOC8 underlies a neurodevelopmental disorder
Asmat Ullah, Jai Krishin, Nighat Haider, Brekhna Aurangzeb, Abdullah, Sufyan Suleman, Wasim Ahmad, Torben Hansen, Sulman Basit
Molecular characterization of Turkish patients with demyelinating Charcot-Marie-Tooth disease
Taner Karakaya, Ayberk Turkyilmaz, Gunes Sager, Rahsan Inan, Oguzhan Yarali, Alper Han Cebi, Yasemin Akin
Genetic analysis of 18 families with tuberous sclerosis complex
Kaili Yin, Nan Lin, Qiang Lu, Liri Jin, Yan Huang, Xiangqin Zhou, Kaifeng Xu, Qing Liu, Xue Zhang