List of works - Jodi Warman Chardon

A Survey of Cerebrospinal Fluid Total Protein Upper Limits in Canada: Time for an Update?

scientific article published on 27 March 2019

Abnormal fatty acid metabolism is a core component of spinal muscular atrophy

scientific article published on 26 July 2019

Amyloid Neuropathy Following Domino Liver Transplantation

article published in 2016

Autoimmune peripheral neuropathies

scientific article

Axons to Exons: the Molecular Diagnosis of Rare Neurological Diseases by Next-Generation Sequencing

scientific article published on September 2015

Cardiac Amyloidosis Phenotype Associated With a Glu89Lys Transthyretin Mutation.

scientific article published on 3 February 2017

Combined isolated trigeminal and facial neuropathies from perineural invasion by squamous cell carcinoma: A case series and review of the literature

scientific article

Dataset for worldwide survey of cerebrospinal total protein upper reference values

scientific article published on 07 March 2019

Deletion of filamin A in two female patients with periventricular nodular heterotopia

Deletion ofAFG3L2associated with spinocerebellar ataxia type 28 in the context of multiple genomic anomalies

scientific article published on 23 September 2014

Diffuse leukoencephalopathy with spheroids presenting as primary progressive aphasiaAuthor Response

Exome sequencing as a diagnostic tool for pediatric-onset ataxia

scientific article published in January 2014

Identification of a methylation profile for DNMT1-associated autosomal dominant cerebellar ataxia, deafness, and narcolepsy

scientific article published on 05 September 2016

Intrafamilial variability of limb-girdle muscular dystrophy, LGMD1D type

scientific article published on 27 April 2019

Intraneural Ganglion Cysts of the Fibular Nerve: A Cause of Fluctuating Painful Foot Drop

scientific article published on 25 July 2018

LIMS2 mutations are associated with a novel muscular dystrophy, severe cardiomyopathy and triangular tongues

scientific article published on 14 January 2015

Marked enlargement of neck circumference from nerve hypertrophy in CIDP

scientific article published on 01 July 2016

Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia

scientific article published on 17 September 2012

Neurolymphomatosis of the Brachial Plexus and its Branches: Case Series and Literature Review.

scientific article published on 8 January 2018

Novel ELOVL4 mutation associated with erythrokeratodermia and spinocerebellar ataxia (SCA 34)

scientific article published on 26 July 2018

PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation

scientific article published on 01 July 2019

Recent advances in the genetic etiology of brain malformations

scientific article published on August 2013

Report on the 3rd Ottawa International Conference on Neuromuscular Biology, Disease and Therapy - September 24-26, 2015, Ottawa, Canada.

scientific article

Supramaximal Stimulus Intensity as a Diagnostic Tool in Chronic Demyelinating Neuropathy

scientific article published on 16 June 2016

Survival Motor Neuron Protein is Released from Cells in Exosomes: A Potential Biomarker for Spinal Muscular Atrophy.

scientific article published on 24 October 2017

Syndrome disintegration: Exome sequencing reveals that Fitzsimmons syndrome is a co-occurrence of multiple events.

scientific article published on 2 May 2016

Systematic analysis of clinical deficits in unilateral hypoglossal nerve palsy

The Role of Muscle Imaging in the Diagnosis and Assessment of Children with Genetic Muscle Disease

scientific article published on 02 July 2017

The utility of exome sequencing for genetic diagnosis in a familial microcephaly epilepsy syndrome

scientific article

Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care

scientific article published on 18 August 2015

Whole-exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families.

scientific article published on 14 July 2017

Whole-transcriptome sequencing in blood provides a diagnosis of spinal muscular atrophy with progressive myoclonic epilepsy.

scientific article published on 2 March 2017

List of works by Jodi Warman Chardon

A Survey of Cerebrospinal Fluid Total Protein Upper Limits in Canada: Time for an Update?

Abnormal fatty acid metabolism is a core component of spinal muscular atrophy

Amyloid Neuropathy Following Domino Liver Transplantation

Autoimmune peripheral neuropathies

Axons to Exons: the Molecular Diagnosis of Rare Neurological Diseases by Next-Generation Sequencing

Cardiac Amyloidosis Phenotype Associated With a Glu89Lys Transthyretin Mutation.

Combined isolated trigeminal and facial neuropathies from perineural invasion by squamous cell carcinoma: A case series and review of the literature

Dataset for worldwide survey of cerebrospinal total protein upper reference values

Deletion of filamin A in two female patients with periventricular nodular heterotopia

Deletion ofAFG3L2associated with spinocerebellar ataxia type 28 in the context of multiple genomic anomalies

Diffuse leukoencephalopathy with spheroids presenting as primary progressive aphasiaAuthor Response

Exome sequencing as a diagnostic tool for pediatric-onset ataxia

Identification of a methylation profile for DNMT1-associated autosomal dominant cerebellar ataxia, deafness, and narcolepsy

Intrafamilial variability of limb-girdle muscular dystrophy, LGMD1D type

Intraneural Ganglion Cysts of the Fibular Nerve: A Cause of Fluctuating Painful Foot Drop

LIMS2 mutations are associated with a novel muscular dystrophy, severe cardiomyopathy and triangular tongues

Marked enlargement of neck circumference from nerve hypertrophy in CIDP

Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia

Neurolymphomatosis of the Brachial Plexus and its Branches: Case Series and Literature Review.

Novel ELOVL4 mutation associated with erythrokeratodermia and spinocerebellar ataxia (SCA 34)

PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation

Recent advances in the genetic etiology of brain malformations

Report on the 3rd Ottawa International Conference on Neuromuscular Biology, Disease and Therapy - September 24-26, 2015, Ottawa, Canada.

Supramaximal Stimulus Intensity as a Diagnostic Tool in Chronic Demyelinating Neuropathy

Survival Motor Neuron Protein is Released from Cells in Exosomes: A Potential Biomarker for Spinal Muscular Atrophy.

Syndrome disintegration: Exome sequencing reveals that Fitzsimmons syndrome is a co-occurrence of multiple events.

Systematic analysis of clinical deficits in unilateral hypoglossal nerve palsy

The Role of Muscle Imaging in the Diagnosis and Assessment of Children with Genetic Muscle Disease

The utility of exome sequencing for genetic diagnosis in a familial microcephaly epilepsy syndrome

Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care

Whole-exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families.

Whole-transcriptome sequencing in blood provides a diagnosis of spinal muscular atrophy with progressive myoclonic epilepsy.