Disease: Neuropathy- hereditary motor and sensory- Russe type
- De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment
- Early clinical and electrophysiologic features of the two most common autosomal recessive forms of Charcot-Marie-Tooth disease in the Roma (Gypsies)
- Expanding the Molecular Spectrum of <em>HK1</em>-Related Charcot-Marie-Tooth Disease, Type 4G; the First Report in Iran
- Expanding the Molecular Spectrum of HK1-Related Charcot-Marie-Tooth Disease, Type 4G; the First Report in Iran
- Founder mutations in NDRG1 and HK1 genes are common causes of inherited neuropathies among Roma/Gypsies in Slovakia
- Genetics of the Charcot-Marie-Tooth disease in the Spanish Gypsy population: the hereditary motor and sensory neuropathy-Russe in depth
- HSMNR belongs to the most frequent types of hereditary neuropathy in the Czech Republic and is twice more frequent than HMSNL
- Screening for hereditary neuromuscular disorders with molecular genetic methods in the Roma population of Hungary
- The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4