Shawna Feely

Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to <i>GJB1</i> variants

Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies

Biallelic variants in COQ7 cause distal hereditary motor neuropathy with upper motor neuron signs

A <i>CADM3</i> variant causes Charcot-Marie-Tooth disease with marked upper limb involvement

Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes

Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study

Assessing non-Mendelian inheritance in inherited axonopathies

Variation in <i>SIPA1L2</i> is correlated with phenotype modification in Charcot– Marie– Tooth disease type 1A

Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association Study

Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2

Myelin abnormality in Charcot–Marie–Tooth type 4J recapitulates features of acquired demyelination

Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia

Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1)

Mutations in BAG3 cause adult-onset Charcot-Marie-Tooth disease

Substrate interaction defects in histidyl-tRNA synthetase linked to dominant axonal peripheral neuropathy

Genotype–phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the <i>MPZ</i> gene

Absence of Dystrophin Related Protein-2 disrupts Cajal bands in a patient with Charcot–Marie–Tooth disease

CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis

A novel mutation in VCP causes Charcot–Marie–Tooth Type 2 disease