[HTML][HTML] Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia
L Huang, JW Chardon, MT Carter, KL Friend… - Orphanet journal of rare …, 2012 - Springer
Background Congenital nonprogressive spinocerebellar ataxia is characterized by early
gross motor delay, hypotonia, gait ataxia, mild dysarthria and dysmetria. The clinical …
gross motor delay, hypotonia, gait ataxia, mild dysarthria and dysmetria. The clinical …
Abnormal fatty acid metabolism is a core component of spinal muscular atrophy
…, K Selby, J Warman Chardon… - Annals of clinical …, 2019 - Wiley Online Library
Objective Spinal muscular atrophy (SMA) is an inherited neuromuscular disorder leading to
paralysis and subsequent death in young children. Initially considered a motor neuron …
paralysis and subsequent death in young children. Initially considered a motor neuron …
Clinical and genetic study of hereditary spastic paraplegia in Canada
…, JD Brisson, J Warman-Chardon… - Neurology …, 2016 - AAN Enterprises
Objective: To describe the clinical, genetic, and epidemiologic features of hereditary spastic
paraplegia (HSP) in Canada and to determine which clinical, radiologic, and genetic factors …
paraplegia (HSP) in Canada and to determine which clinical, radiologic, and genetic factors …
Exome sequencing as a diagnostic tool for pediatric‐onset ataxia
Ataxia demonstrates substantial phenotypic and genetic heterogeneity. We set out to
determine the diagnostic yield of exome sequencing in pediatric patients with ataxia without a …
determine the diagnostic yield of exome sequencing in pediatric patients with ataxia without a …
PDXK mutations cause polyneuropathy responsive to pyridoxal 5′‐phosphate supplementation
Objective To identify disease‐causing variants in autosomal recessive axonal polyneuropathy
with optic atrophy and provide targeted replacement therapy. Methods We performed …
with optic atrophy and provide targeted replacement therapy. Methods We performed …
[HTML][HTML] Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes
M Sun, AK Johnson, V Nelakuditi, L Guidugli… - Genetics in …, 2019 - Elsevier
Purpose To examine the impact of a targeted exome approach for the molecular diagnosis of
patients nationwide with a wide range of ataxia-related phenotypes. Methods One hundred …
patients nationwide with a wide range of ataxia-related phenotypes. Methods One hundred …
[HTML][HTML] Identification of a methylation profile for DNMT1-associated autosomal dominant cerebellar ataxia, deafness, and narcolepsy
…, KM Boycott, J Warman-Chardon… - Clinical …, 2016 - Springer
Background DNA methylation is an essential epigenetic mark, controlled by DNA
methyltransferase (DNMT) proteins, which regulates chromatin structure and gene expression …
methyltransferase (DNMT) proteins, which regulates chromatin structure and gene expression …
MYO-MRI diagnostic protocols in genetic myopathies
JW Chardon, J Díaz-Manera, G Tasca… - Neuromuscular …, 2019 - Elsevier
Whole-body magnetic resonance imaging has emerged as a useful imaging tool in diagnosing
and characterizing the progression of myopathies and muscular dystrophies. Whole-body …
and characterizing the progression of myopathies and muscular dystrophies. Whole-body …
Genotype–phenotype correlations in valosin-containing protein disease: a retrospective muticentre study
…, GK Papadimas, J Warman-Chardon… - Journal of Neurology …, 2022 - jnnp.bmj.com
Background Valosin-containing protein (VCP) disease, caused by mutations in the VCP
gene, results in myopathy, Paget’s disease of bone (PBD) and frontotemporal dementia (FTD). …
gene, results in myopathy, Paget’s disease of bone (PBD) and frontotemporal dementia (FTD). …
Advances in the diagnosis of inherited neuromuscular diseases and implications for therapy development
R Thompson, S Spendiff, A Roos, PR Bourque… - The Lancet …, 2020 - thelancet.com
Advances in DNA sequencing technologies have resulted in a near doubling, in under 10
years, of the number of causal genes identified for inherited neuromuscular disorders. …
years, of the number of causal genes identified for inherited neuromuscular disorders. …