Disease: Charcot-Marie-Tooth disease and deafness
- <em>PMP22</em> exon 4 deletion causes ER retention of PMP22 and a gain-of-function allele in CMT1E
- A longitudinal clinicopathological study of two unrelated patients with Charcot-Marie-Tooth disease type 1E
- A neutral lipid-enriched diet improves myelination and alleviates peripheral nerve pathology in neuropathic mice
- A new mouse model of Charcot-Marie-Tooth 2J neuropathy replicates human axonopathy and suggest alteration in axo-glia communication
- A novel case of concurrent occurrence of demyelinating-polyneuropathy-causing PMP22 duplication and SOX10 gene mutation producing severe hypertrophic neuropathy
- A Novel PRPS1 Mutation in a Japanese Patient with CMTX5
- A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness
- An Elderly Woman with Complaints of Pain and Hearing Loss, Diagnosed with CMT1A with PMP22 Duplication
- Atypical presentation of Arts syndrome due to a novel hemizygous loss-of-function variant in the <em>PRPS1</em> gene
- Auditory Neuropathy Spectrum Disorder Progressing with Motor and Sensory Neuropathy Caused by an ATP1A1 Variant
- Characterisation of Patients with <em>SH3TC2</em> Associated Neuropathy in an Indian Cohort
- Characterization of a novel variant in the HR1 domain of <em>MFN2</em> in a patient with ataxia, optic atrophy and sensorineural hearing loss
- Characterization of a Portuguese family with Charcot-Marie-Tooth disease type 1E due to a novel point mutation in the PMP22 gene
- Clinical spectrum of AIFM1-associated disease in an Irish family, from mild neuropathy to severe cerebellar ataxia with colour blindness
- Cochlear implantation in patients with Charcot-Marie-Tooth disease: two cases with a review of the literature
- Cochlear Implantation Outcomes in Post Synaptic Auditory Neuropathies: A Systematic Review and Narrative Synthesis
- Confounding clinical presentation and different disease progression in CMT4B1
- Connexin Mutations and Hereditary Diseases
- Development of a functional outcome measure for riboflavin transporter deficiency
- Electrodiagnostic Evaluation of Peripheral Neuropathy
- Electrodiagnostic Evaluation of Peripheral Neuropathy
- Genotype-phenotype correlation in a novel ABHD12 mutation underlying PHARC syndrome
- Hereditary hypertrophic neuropathy combining features of tic douloureux, Charcot-Marie-Tooth disease, and deafness
- Implication of the SH3TC2 gene in Charcot-Marie-Tooth disease associated with deafness and/or scoliosis: Illustration with four new pathogenic variants
- Peripheral Myelin Protein 22 Gene Mutations in Charcot-Marie-Tooth Disease Type 1E Patients
- Severe Charcot-Marie-Tooth disease type 1E caused by a novel p.Phe84Leufs*24 PMP22 point mutation
- The formin INF2 in disease: progress from 10 years of research
- The Importance of Offering Exome or Genome Sequencing in Adult Neuromuscular Clinics