Neurogenetics SCIE

文章名称引用次数

• Mitochondrial ribosomal protein PTCD3 mutations cause oxidative phosphorylation defects with Leigh syndrome7
• In vitro efficacy of ARQ an allosteric AKT inhibitor, on primary fibroblast cells derived from patients with PIK3CA-related overgrowth spectrum (PROS)7
• Homozygous mutation in MFSD2A, encoding a lysolipid transporter for docosahexanoic acid, is associated with microcephaly and hypomyelination7
• Clinical application of next generation sequencing in hereditary spinocerebellar ataxia: increasing the diagnostic yield and broadening the ataxia-spasticity spectrum. A retrospective analysis7
• Monogenic disorders that mimic the phenotype of Rett syndrome7
• Nervous NDRGs: the N-myc downstream-regulated gene family in the central and peripheral nervous system6
• The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes6
• The polynucleotide kinase 3 '-phosphatase gene (PNKP) is involved in Charcot-Marie-Tooth disease (CMT2B2) previously related to MED256
• Pathogenic variants in AIMP1 cause pontocerebellar hypoplasia5
• A pathogenic CtBP1 missense mutation causes altered cofactor binding and transcriptional activity5