A new locus for X-linked dominant Charcot-Marie-Tooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene

Validation of the Charcot-Marie-Tooth disease pediatric scale as an outcome measure of disability

(2012) Joshua Burns et al.   ANNALS OF NEUROLOGY

Auditory function in children with Charcot-Marie-Tooth disease

(2012) G. Rance et al.   BRAIN

Peripheral neuropathy associated with mitochondrial disease in children

(2012) MANOJ P MENEZES et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

The spectrum of pyruvate dehydrogenase complex deficiency: Clinical, biochemical and genetic features in 371 patients

(2012) Kavi P. Patel et al.   MOLECULAR GENETICS AND METABOLISM

Exome Sequencing Identifies a DYNC1H1 Mutation in a Large Pedigree with Dominant Axonal Charcot-Marie-Tooth Disease

(2011) Michael N. Weedon et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth family

(2011) Gladys Montenegro et al.   ANNALS OF NEUROLOGY

A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy

(2011) Marian A.J. Weterman et al.   HUMAN MOLECULAR GENETICS

Auditory function in individuals within Leber’s hereditary optic neuropathy pedigrees

(2011) Gary Rance et al.   JOURNAL OF NEUROLOGY

A retrospective review of X-linked Charcot-Marie-Tooth disease in childhood

(2011) E. M. Yiu et al.   NEUROLOGY

Missense Mutations in the Copper Transporter Gene ATP7A Cause X-Linked Distal Hereditary Motor Neuropathy

(2010) Marina L. Kennerson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesis

(2009) CHRISTINE BARNERIAS et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Targeted capture and massively parallel sequencing of 12 human exomes

(2009) Sarah B. Ng et al.   NATURE

Exome sequencing identifies the cause of a mendelian disorder

(2009) Sarah B Ng et al.   NATURE GENETICS

X-linked distal hereditary motor neuropathy maps to the DSMAX locus on chromosome Xq13.1-q21

(2009) M. Kennerson et al.   NEUROLOGY

Pyruvate Dehydrogenase Kinase-4 Structures Reveal a Metastable Open Conformation Fostering Robust Core-free Basal Activity

(2008) R. Max Wynn et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Evidence of a founder haplotype refines the X-linked Charcot–Marie-Tooth (CMTX3) locus to a 2.5 Mb region

(2008) Megan Brewer et al.   NEUROGENETICS