Mutation in the Gene Encoding Ubiquitin Ligase LRSAM1 in Patients with Charcot-Marie-Tooth Disease

Charcot-Marie-Tooth disorders with an autosomal recessive mode of inheritance

(2011) D. Kabzinska et al.   CLINICAL NEUROPATHOLOGY

Hereditary predominantly motor neuropathies

(2009) Davide Pareyson et al.   CURRENT OPINION IN NEUROLOGY

Diagnosis of Charcot-Marie-Tooth Disease

(2009) Isabel Banchs et al.   JOURNAL OF BIOMEDICINE AND BIOTECHNOLOGY

Diagnosis and new treatments in genetic neuropathies

(2009) M M Reilly et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Targeted capture and massively parallel sequencing of 12 human exomes

(2009) Sarah B. Ng et al.   NATURE

Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C

(2009) Guida Landouré et al.   NATURE GENETICS

Application of Homozygosity Haplotype Analysis to Genetic Mapping with High-Density SNP Genotype Data

(2009) Haiyan Jiang et al.   PLoS One

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

(2009) Murim Choi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Charcot-Marie-Tooth Disease: A Clinico-genetic Confrontation

(2008) N. Barisic et al.   ANNALS OF HUMAN GENETICS

The complete genome of an individual by massively parallel DNA sequencing

(2008) David A. Wheeler et al.   NATURE

Charcot-Marie-Tooth Neuropathies: Diagnosis and Management

(2008) Agnes Jani-Acsadi et al.   SEMINARS IN NEUROLOGY

Genetic Variation in an Individual Human Exome

(2008) Pauline C. Ng et al.   PLoS Genetics