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Publications by Helle Høyer

MFN2point Mutations Occur in 3.4% of Charcot-Marie-Tooth Families. An Investigation of 232 Norwegian CMT Families

BMC Medical Genetics

English

Copy Number Variations in a Population-Based Study of Charcot-Marie-Tooth Disease

BioMed Research International

Molecular Biology

English

Related publications

TRPV4 Mutations and Cytotoxic Hypercalcemia in Axonal Charcot-Marie-Tooth Neuropathies

English

Charcot–Marie–Tooth Disease

English

Charcot-Marie-Tooth Disease Type 2R

English

Charcot-Marie-Tooth Disease Type 1a (CMT1a): Evidence for Trisomy of the Region P11.2 of Chromosome 17 in South Wales Families.

Journal of Medical Genetics

English

Update on Charcot-Marie-Tooth Disease

Current Neurology and Neuroscience Reports

English

Charcot-Marie-Tooth Disease Type 2B5

English

Charcot-Marie-Tooth Disease Type 4G

English

Peripheral Myelin Protein 2 – A Novel Cluster of Mutations Causing Charcot-Marie-Tooth Neuropathy

Orphanet Journal of Rare Diseases

English

Diagnosis and Care of Charcot-Marie-Tooth Disease

Clinical Neurology

English