- Charcot-Marie-Tooth 1A: heterozygous T118M mutation over a CMT1A duplication has no influence on the phenotype1999 | 2. lékařská fakulta
- Selected items from the Charcot-Marie-Tooth (CMT) Neuropathy Score and secondary clinical outcome measures serve as sensitive clinical markers of disease severity in CMT1A patients2014 | 2. lékařská fakulta
- Mechanisms for Nonrecurrent Genomic Rearrangements Associated with CMT1A or HNPP: Rare CNVs as a Cause for Missing Heritability2010 | 2. lékařská fakulta
- Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP): Reliable detection of the CMT1A duplication and HNPP deletion using 8 microsatellite markers in 2 multiplex PCRs2000 | 2. lékařská fakulta
- Charcot-Marie-Tooth 1 (CMT1) a tomakulózní neuropatie (HNPP) - průkaz specifických DNA duplikací a delecí v oblasti 17p11.2-12 pomocí sady dinukleotidových markerů1999 | 2. lékařská fakulta
- Charcot-Marie-Tooth neuropathy type 1A combined with Duchenne muscular dystrophy2007 | 2. lékařská fakulta
- Utility of Charcot-Marie-Tooth Neuropathy Score in Children With Type 1A Disease2010 | 2. lékařská fakulta
- Four novel point mutations in the PMP22 gene with phenotypes of HNPP and Dejerine-Sottas neuropathy2011 | 1. lékařská fakulta, 2. lékařská fakulta, Fakulta tělesné výchovy a sportu
- Biomarkers predict outcome in Charcot-Marie-Tooth disease 1A2017 | 2. lékařská fakulta
- FOUR NOVEL POINT MUTATIONS IN THE PMP22 GENE WITH PHENOTYPES OF HNPP AND DEJERINE-SOTTAS NEUROPATHY2011 | 1. lékařská fakulta
- X-linked Charcot-Marie-Tooth disease: Phenotypic expression of a novel mutation IIe127Ser in the GJB1 (connexin 32) gene2005 | 2. lékařská fakulta
- Charcot-Marie-Tooth type X : A novel mutation in the Cx32 gene with central conduction slowing2001 | 2. lékařská fakulta