Janet E. Sowden
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View article: Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD
Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD Open
Biallelic loss-of-function mutations in the sorbitol dehydrogenase (SORD) gene cause the most common recessive type of Charcot-Marie-Tooth disease (CMT), CMT-SORD. However, the full genotype-phenotype spectrum and progression of the diseas…
View article: Patient‐reported disease burden in the Accelerate Clinical Trials in Charcot–Marie–Tooth Disease Study
Patient‐reported disease burden in the Accelerate Clinical Trials in Charcot–Marie–Tooth Disease Study Open
Background and Aims The Charcot–Marie–Tooth Disease Health Index (CMT‐HI) is a disease‐specific, patient‐reported disease burden measure. As part of an international clinical trial readiness study, individuals with CMT1A (ages 18–75 years)…
View article: Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to <i>GJB1</i> variants
Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to <i>GJB1</i> variants Open
Charcot-Marie-Tooth disease (CMT) due to GJB1 variants (CMTX1) is the second most common form of CMT. It is an X-linked disorder characterized by progressive sensory and motor neuropathy with males affected more severely than females. Many…
View article: Disease‐specific wearable sensor algorithms for profiling activity, gait, and balance in individuals with <scp>Charcot–Marie–Tooth</scp> disease type <scp>1A</scp>
Disease‐specific wearable sensor algorithms for profiling activity, gait, and balance in individuals with <span>Charcot–Marie–Tooth</span> disease type <span>1A</span> Open
Background/Aims Charcot–Marie–Tooth Disease type 1A (CMT1A), the most common inherited peripheral neuropathy, is characterized by progressive sensory loss and weakness, which results in impaired mobility. Increased understanding of the gen…
View article: Accelerate Clinical Trials in Charcot-Marie-Tooth Disease (ACT-CMT): A Protocol to Address Clinical Trial Readiness in CMT1A
Accelerate Clinical Trials in Charcot-Marie-Tooth Disease (ACT-CMT): A Protocol to Address Clinical Trial Readiness in CMT1A Open
With therapeutic trials on the horizon for Charcot-Marie-Tooth type 1A (CMT1A), reliable, valid, and responsive clinical outcome assessments and biomarkers are essential. Accelerate Clinical Trials in CMT (ACT-CMT) is an international stud…
View article: In Vivo Reflectance Microscopy of Meissner Corpuscles and Bedside Measures of Large Fiber Sensory Function
In Vivo Reflectance Microscopy of Meissner Corpuscles and Bedside Measures of Large Fiber Sensory Function Open
This study establishes age-, sex-, and body dimension-adjusted normal cutoff values for 2 easily applied measures of large fiber sensory function and RCM assessment of MC densities for multiple limb locations. These results will aid in the…
View article: Association Between Body Mass Index and Disability in Children With Charcot-Marie-Tooth Disease
Association Between Body Mass Index and Disability in Children With Charcot-Marie-Tooth Disease Open
The proportion of children with CMT who are underweight or obese is higher compared to age- and sex-matched healthy children. In children with CMT, being underweight or obese is associated with greater disability, when compared to children…
View article: Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study
Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study Open
Mitofusin-2 (MFN2) is one of two ubiquitously expressed homologous proteins in eukaryote cells, playing a critical role in mitochondrial fusion. Mutations in MFN2 (most commonly autosomal dominant) cause Charcot-Marie-Tooth disease type 2A…
View article: Author Correction: Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes
Author Correction: Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes Open
View article: Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes
Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes Open
View article: Measuring peripheral nerve involvement in Friedreich’s ataxia
Measuring peripheral nerve involvement in Friedreich’s ataxia Open
Objective Experimental therapies under development for Friedreich’s Ataxia (FRDA) require validated biomarkers. In‐vivo reflectance confocal microscopy (RCM) of skin is a noninvasive way to quantify Meissner’s corpuscle (MC) density and ha…
View article: Balance impairment in pediatric charcot–marie–tooth disease
Balance impairment in pediatric charcot–marie–tooth disease Open
Introduction : Balance impairment contributes to gait dysfunction, falls, and reduced quality of life in adults with Charcot–Marie–Tooth disease (CMT) but has been minimally examined in pediatric CMT. Methods : The CMT Pediatric Scale (CMT…
View article: The Charcot-Marie-Tooth Functional Outcome Measure (CMT-FOM)
The Charcot-Marie-Tooth Functional Outcome Measure (CMT-FOM) Open
The CMT-FOM is well tolerated and showed no floor/ceiling effects in an adult CMT1A cohort matching those likely to enter upcoming clinical trials. It appears to be reliable, and our data support convergent and known-groups validity in adu…
View article: Table of Contents
Table of Contents Open
View article: Deep characterization of a common D4Z4 variant identifies biallelic DUX4 expression as a modifier for disease penetrance in FSHD2
Deep characterization of a common D4Z4 variant identifies biallelic DUX4 expression as a modifier for disease penetrance in FSHD2 Open
View article: Phenotypic Variability of Childhood Charcot-Marie-Tooth Disease
Phenotypic Variability of Childhood Charcot-Marie-Tooth Disease Open
These results highlight the phenotypic variability within CMT genotypes and mutation-specific manifestations between types. This study has identified distinct functional limitations and self-reported impairments to target in future therape…
View article: Electrophysiological features of SYT2 mutations; a novel and treatable neuromuscular syndrome
Electrophysiological features of SYT2 mutations; a novel and treatable neuromuscular syndrome Open
Objectives: To describe the clinical and electrophysiologic features of synaptotagmin II (SYT2) mutations, a novel neuromuscular syndrome characterized by foot deformities and fatigable ocular and lower limb weakness, and the response to m…
View article: Electrophysiologic features of <i>SYT2</i> mutations causing a treatable neuromuscular syndrome
Electrophysiologic features of <i>SYT2</i> mutations causing a treatable neuromuscular syndrome Open
SYT2 mutations cause a novel and potentially treatable complex presynaptic congenital myasthenic syndrome characterized by motor neuropathy causing lower limb wasting and foot deformities, with reflex potentiation following exercise and a …
View article: Reply: The p.Ser107Leu in<i>BICD2</i>is a mutation ‘hot spot’ causing distal spinal muscular atrophy
Reply: The p.Ser107Leu in<i>BICD2</i>is a mutation ‘hot spot’ causing distal spinal muscular atrophy Open
Sir,
Thank you for the opportunity to reply to the correspondence concerning our recent publication in Brain , ‘Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2’ (Rossor et al. , 2015). We read with…