期刊： NEUROGENETICS, 2022; 23 (3)
The syndromic group of hereditary spastic paraplegias has a heterogeneous clinical profile and a broad differential diagnosis, including neurometaboli......
期刊： NEUROGENETICS, 2022; 23 (2)
Krabbe disease (KD) is a rare autosomal recessive lipid storage leukodystrophy. It is caused by deficient enzyme activity resulting from mutations of ......
期刊： NEUROGENETICS, 2022; 23 (2)
Peroxisome biogenesis disorders-Zellweger spectrum disorders (PBD-ZSD)-are primarily autosomal recessive disorders caused by mutations in any of 13 PE......
期刊： NEUROGENETICS, 2022; 23 (4)
Dejerine-Sottas syndrome (DSS) is the earlier onset, more severe form of Charcot-Marie-Tooth (CMT) disease with heterogenous neurologic manifestations......
期刊： NEUROGENETICS, 2022; 23 (3)
Human exocyst complex is an evolutionary conserved multimeric complex composed of proteins encoded by eight genes EXOC1-EXOC8. It is known that the ex......
期刊： NEUROGENETICS, 2022; 23 (4)
Progressive encephalopathy with brain edema and/or leukoencephalopathy, PEBEL1, is a severe neurometabolic disorder characterized by rapidly progressi......
期刊： NEUROGENETICS, 2022; 23 (2)
Hereditary spastic paraplegia (HSP) refers to a group of genetic disorders characterized by progressive weakness and stiffness in the muscles of the l......
期刊： NEUROGENETICS, 2022; 23 (3)
Tuberous sclerosis complex (TSC) is mainly caused by variants in TSC1 and TSC2, which encodes hamartin protein and tuberin protein, respectively. Here......
期刊： NEUROGENETICS, 2022; 23 (1)
CADASIL is an inherited disease caused by mutations in the NOTCH3 gene. We aimed to investigate the mutation and clinical spectrum, and genotype-pheno......
期刊： NEUROGENETICS, 2022; 23 (2)
GNAO1 variants are associated with a wide range of neurodevelopmental disorders including epileptic encephalopathies and movement disorders. It has be......
