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Publications by Ivailo Tournev
Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia
American Journal of Human Genetics
Genetics
A Pan-European Study of theC9orf72Repeat Associated With FTLD: Geographic Prevalence, Genomic Instability, and Intermediate Repeats
Human Mutation
Genetics
Peripheral Myelin Protein 2 – A Novel Cluster of Mutations Causing Charcot-Marie-Tooth Neuropathy
Orphanet Journal of Rare Diseases
Medicine
Genetics
Pharmacology
Correction To: Eight Years After an International Workshop on Myotonic Dystrophy Patient Registries: Case Study of a Global Collaboration for a Rare Disease
Orphanet Journal of Rare Diseases
Medicine
Genetics
Pharmacology
Glu89Gln Transthyretin-Related Amyloidosis in Italy and Bulgaria: Does Geographic Area Influence Phenotype Beyond the Shared Mutation?
Orphanet Journal of Rare Diseases
Medicine
Genetics
Pharmacology
European Cross-Sectional Survey of Current Care Practices for Duchenne Muscular Dystrophy Reveals Regional and Age-Dependent Differences
Journal of Neuromuscular Diseases
Neurology
Hot-Spot Residue in Small Heat-Shock Protein 22 Causes Distal Motor Neuropathy
Nature Genetics
Genetics
A Mutation in an Alternative Untranslated Exon of Hexokinase 1 Associated With Hereditary Motor and Sensory Neuropathy – Russe (HMSNR)
European Journal of Human Genetics
Genetics
