List of works by Michael Shy

168th ENMC International Workshop: outcome measures and clinical trials in Charcot-Marie-Tooth disease (CMT)

scientific article published on 17 September 2010

A case of neuromyotonia and axonal motor neuropathy: A report of a HINT1 mutation in the United States

scientific article published on 01 December 2015

A human cellular model to study peripheral myelination and demyelinating neuropathies.

scientific article published in April 2017

A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores

scientific article published on 11 February 2020

A molecular basis for hereditary motor and sensory neuropathy disorders.

scientific article

Absence of P0 leads to the dysregulation of myelin gene expression and myelin morphogenesis

scientific article published on 01 June 2000

An alert for motor neuron diseases and peripheral neuropathy: monoclonal paraproteinemia may be missed by routine electrophoresis

scientific article published on 01 March 1987

Anti-GM1/GD1b M-proteins damage human spinal cord neurons co-cultured with muscle.

scientific article published on December 1993

Antibodies to the ganglioside GD1b in a patient with motor neuron disease and thyroid adenoma.

scientific article published on November 1991

Antisense oligonucleotides offer hope to patients with Charcot-Marie-Tooth disease type 1A.

scientific article published on 4 December 2017

Appearance of PLP mRNA in specific regions of the developing rat lumbosacral spinal cord as revealed by in situ hybridization

scientific article published on 01 May 1993

Ascorbic acid for treatment of CMT1A: the jury is still out.

scientific article published on 6 May 2009

Asymmetric Ataxia, Depression, Memory Loss, Epilepsy, and Axonal Neuropathy Associated with A Heterozygous DNA Polymerase Gamma Variant of Uncertain Significance, c1370G>a (R457Q).

scientific article

Asymmetric flaccid paralysis: a neuromuscular presentation of West Nile virus infection.

scientific article published on June 2003

Axon-Schwann cell interactions regulate the expression of c-jun in Schwann cells

scientific article published on 01 March 1996

Axonal Charcot-Marie-Tooth disease patient-derived motor neurons demonstrate disease-specific phenotypes including abnormal electrophysiological properties.

scientific article

Axonal Charcot-Marie-Tooth disease.

scientific article published on October 2011

Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2

artical

Biology of peripheral inherited neuropathies: Schwann cell axonal interactions.

scientific article published on January 2009

Biomarkers predict outcome in Charcot-Marie-Tooth disease 1A.

scientific article published on 31 August 2017

CMT1X phenotypes represent loss of GJB1 gene function

scientific article published on 01 March 2007

Carpal tunnel syndrome in inherited neuropathies: A retrospective survey.

scientific article

Characterization of oligosaccharides that bind to human anti-MAG antibodies and to the mouse monoclonal antibody HNK-1.

scientific article

Charcot-Marie-Tooth Disease Type 1A: Influence of Body Mass Index on Nerve Conduction Studies and on the Charcot-Marie-Tooth Examination Score

scientific article

Charcot-Marie-Tooth disease and related genetic neuropathies.

scientific article published on February 2012

Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation

scientific article

Charcot-Marie-Tooth disease impairs quality of life: why? And how do we improve it?

scientific article published on 01 September 2005

Charcot-Marie-Tooth disease subtypes and genetic testing strategies

scientific article

Charcot-Marie-Tooth disease type 1C: Clinical and electrophysiological findings for the c.334G>a (p.Gly112Ser) Litaf/Simple mutation.

scientific article published on 6 February 2017

Charcot-Marie-Tooth disease: New insights from skin biopsy

scientific article

Charcot-Marie-Tooth neuropathies: diagnosis and management.

scientific article published on April 2008

Charcot-marie-tooth disease type 1X in women: Electrodiagnostic findings

scientific article published on 13 February 2016

Chronic inflammatory demyelinating polyneuropathy associated with malignant melanoma

scientific article published on 01 March 1996

Coexistence of a T118M PMP22 missense mutation and chromosome 17 (17p11.2-p12) deletion

scientific article

Conduction block in PMP22 deficiency.

scientific article published on January 2010

Copy number variations are a rare cause of non-CMT1A Charcot-Marie-Tooth disease

scientific article

Correlation between clinical/neurophysiological findings and quality of life in Charcot-Marie-Tooth type 1A.

scientific article published in March 2008

Correlation between weakness and axonal loss in patients with CMT1A

scientific article published on 01 September 1999

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

scientific article

Curcumin derivatives promote Schwann cell differentiation and improve neuropathy in R98C CMT1B mice.

scientific article published in December 2012

Current Therapy for Charcot-Marie-Tooth Disease.

scientific article published on January 2005

Demyelinating CMT--what's known, what's new and what's in store?

scientific article

Detection of copy number variation by SNP-allelotyping.

scientific article

Determinants of reduced health-related quality of life in pediatric inherited neuropathies

scientific article

Development and Validation of the Pediatric CMT Quality of Life Outcome Measure

scientific article published on 22 November 2020

Developmental expression of P0 mRNA and P0 protein in the sciatic nerve and the spinal nerve roots of the rat.

scientific article published in April 1994

Diabetes mellitus exacerbates motor and sensory impairment in CMT1A.

scientific article

Diagnosis and new treatments in genetic neuropathies.

scientific article

Different clinical and magnetic resonance imaging features between Charcot-Marie-Tooth disease type 1A and 2A.

scientific article published on 07 July 2008

Dispersion of compound muscle action potential in hereditary neuropathies and chronic inflammatory demyelinating polyneuropathy

scientific article published on 01 October 2006

Distinct pathogenic processes between Fig4-deficient motor and sensory neurons.

scientific article

Effect of an R69C mutation in the myelin protein zero gene on myelination and ion channel subtypes

scientific article published on 01 December 2006

Effect of pain in pediatric inherited neuropathies

scientific article published on 29 January 2014

Electrodiagnostic findings in CMTX: a disorder of the Schwann cell and peripheral nerve myelin

scientific article published on 01 September 1999

Electrophysiological features of inherited demyelinating neuropathies: A reappraisal in the era of molecular diagnosis.

scientific article

Elevated expression of messenger RNA for peripheral myelin protein 22 in biopsied peripheral nerves of patients with Charcot-Marie-Tooth disease type 1A

scientific article published on 01 September 1994

Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy

scientific article

Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth family

scientific article

Expression of P0 protein mRNA along rat sciatic nerve during development

scientific article published on 01 December 1994

Fatty acid synthase expression during peripheral nervous system myelination.

scientific article published in May 2002

Functional Magnetic Resonance Imaging with Concurrent Urodynamic Testing Identifies Brain Structures Involved in Micturition Cycle in Patients with Multiple Sclerosis.

scientific article

Functional magnetic resonance imaging during urodynamic testing identifies brain structures initiating micturition

scientific article

Gain of glycosylation: a new pathomechanism of myelin protein zero mutations.

scientific article published in March 2012

Gene therapy, CMT1X, and the inherited neuropathies.

scientific article published on 14 April 2016

Genetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease.

scientific article published on 13 May 2017

Genetic testing in neuromuscular disease.

scientific article published in August 2004

Genetic testing practices for Charcot-Marie-Tooth type 1A disease.

scientific article published on 16 December 2013

Genotypes & sensory phenotypes in 2 new X-linked neuropathies (CMTX3 and dSMAX) and dominant CMT/HMN overlap syndromes

scientific article

Haplotype-specific modulation of a SOX10/CREB response element at the Charcot-Marie-Tooth disease type 4C locus SH3TC2.

scientific article published on 15 May 2014

Hereditary motor and sensory neuropathies: Understanding molecular pathogenesis could lead to future treatment strategies.

scientific article

Hereditary motor neuropathy and heat shock proteins: a shocking transformation

scientific article published on 01 November 2008

Hereditary neuropathy with liability to pressure palsy: the electrophysiology fits the name

scientific article published on 01 June 2002

Heterozygous Null Mutation in the P 0 Gene Associated with Mild Charcot-Marie-Tooth Disease

article

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

scientific article published on 27 April 2017

In vivo confocal microscopy of Meissner corpuscles as a novel sensory measure in CMT1A

scientific article published on 01 September 2011

Inclusion body myositis and sarcoid myopathy: coincidental occurrence or associated diseases.

scientific article

Induced effects of backgrounds and foregrounds in three-dimensional configurations: the role of T-junctions

scientific article published on 01 January 1997

Inherited neuropathies: clinical overview and update.

scientific article published on 26 June 2013

Inherited peripheral neuropathies

scientific article published on 01 April 2011

Inherited peripheral neuropathies.

scientific article published on 5 March 2013

Introduction to the Third International Symposium on Charcot-Marie-Tooth disorders.

scientific article published in September 1999

LRSAM1 lessons

scientific article published on 01 December 2016

Late onset Charcot-Marie-Tooth 2 syndrome caused by two novel mutations in the MPZ gene

scientific article published on 01 July 2004

Lessons from London.

scientific article published on 13 June 2012

Limitations of quantitative sensory testing when patients are biased toward a bad outcome

scientific article published on 01 May 1998

Loss-of-function phenotype of hereditary neuropathy with liability to pressure palsies

scientific article published on 01 February 2004

MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2.

scientific article published on 19 May 2006

MFN2 mutations cause severe phenotypes in most patients with CMT2A.

scientific article

MUNE and progression of CMT1A

scientific article published on 25 May 2010

Major myelin protein gene (P0) mutation causes a novel form of axonal degeneration.

scientific article published in September 2006

Meeting report: 2013 Peripheral Nerve Society Biennial Meeting, Saint-Malo, France, June 29-July 3, 2013.

scientific article

Mitogen-expanded Schwann cells retain the capacity to myelinate regenerating axons after transplantation into rat sciatic nerve ⬇️

scientific article published on September 15, 1992

Modulation of cell-mediated immunity prolongs adenovirus-mediated transgene expression in sciatic nerve.

scientific article published on March 1999

Motor unit number estimate of distal and proximal muscles in Charcot-Marie-Tooth disease

scientific article published on 01 August 2003

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

scientific article published in March 2018

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

scientific article published on 28 July 2017

Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease.

scientific article

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

scientific article published on 8 March 2018

Myelin protein zero mutations and the unfolded protein response in Charcot Marie Tooth disease type 1B.

scientific article published on 10 March 2018

Myelin protein zero/P0 phosphorylation and function require an adaptor protein linking it to RACK1 and PKC alpha.

scientific article

Neurofilament light, biomarkers, and Charcot-Marie-Tooth disease.

scientific article published on 10 January 2018

Neuropathy in a human without the PMP22 gene.

scientific article published on June 2011

Neuropathy progression in Charcot-Marie-Tooth disease type 1A

scientific article published on 01 January 2008

Neuropathy.

scientific article published in January 2018

Novel mutations in dystonin provide clues to the pathomechanisms of HSAN-VI.

scientific article published on 3 May 2017

Objective Evaluation of Overactive Bladder: Which Surveys Should I Use?

scientific article published on March 2013

Obstructive sleep apnoea and CMT1A: answers and more questions.

scientific article published in July 2008

Overcoming cellular immunity to prolong adenoviral-mediated gene expression in sciatic nerve.

scientific article

PMP22 expression in dermal nerve myelin from patients with CMT1A.

scientific article published on 15 May 2009

Patients lacking the major CNS myelin protein, proteolipid protein 1, develop length-dependent axonal degeneration in the absence of demyelination and inflammation.

scientific article published in March 2002

Peripheral neuropathy associated with eosinophilia-myalgia syndrome

scientific article

Peripheral neuropathy in complex inherited diseases: an approach to diagnosis.

scientific article published on 9 August 2017

Phenotype expression in women with CMT1X

scientific article published on 01 June 2011

Phenotypic presentation of the Ser63Del MPZ mutation

scientific article published on June 2012

Prevalence and orthopedic management of foot and ankle deformities in Charcot-Marie-Tooth disease.

scientific article published on 20 June 2017

Prospective study of muscle cramps in Charcot-Marie-tooth disease.

scientific article published on 11 February 2015

Protein zero is necessary for E-cadherin-mediated adherens junction formation in Schwann cells

scientific journal article

Proteolipid Protein Is Necessary in Peripheral as Well as Central Myelin ⬇️

scientific article published on July 1, 1997

Proteolipid protein mRNA stability is regulated by axonal contact in the rodent peripheral nervous system

scientific article published on 01 July 2000

Quality of life in children with CMT type 1A.

scientific article published in October 2009

Quality-of-life in Charcot-Marie-Tooth disease: the patient's perspective

scientific article

Quantitative sensory testing: report of the Therapeutics and Technology Assessment Subcommittee of the American Academy of Neurology

scientific article published on 01 March 2003

Randomized controlled trial of IVIg in untreated chronic inflammatory demyelinating polyradiculoneuropathy

scientific article published on 01 February 2001

Reduced neurofilament expression in cutaneous nerve fibers of patients with CMT2E.

scientific article published on 24 June 2015

Refining clinical trial inclusion criteria to optimize the standardized response mean of the CMTPedS

scientific article published on 06 August 2020

Regulation of insulin-like growth factor-binding protein-5 expression during Schwann cell differentiation

scientific article published on 01 October 1999

Regulation of myelin-specific gene expression. Relevance to CMT1.

scientific article

Reliability and validity of the CMT neuropathy score as a measure of disability.

scientific article published in April 2005

Rydel-Seiffer fork revisited: Beyond a simple case of black and white

scientific article published on 13 July 2016

SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiency

scientific article

SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation

scientific article (publication date: April 2005)

Schwann cell expression of PLP1 but not DM20 is necessary to prevent neuropathy

scientific article published on March 2003

Selected items from the Charcot-Marie-Tooth (CMT) Neuropathy Score and secondary clinical outcome measures serve as sensitive clinical markers of disease severity in CMT1A patients.

scientific article published on 19 June 2014

Shortened internodal length of dermal myelinated nerve fibres in Charcot-Marie-Tooth disease type 1A.

scientific article

Skin biopsies demonstrate MPZ splicing abnormalities in Charcot-Marie-Tooth neuropathy 1B

scientific article published on 01 October 2006

Small nerve fiber involvement in CMT1A.

scientific article

Structure and expression of proteolipid protein in the peripheral nervous system

scientific article published on February 1, 1992

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

scientific article published on 12 December 2017

The Charcot-Marie-Tooth Functional Outcome Measure (CMT-FOM)

The Charcot-Marie-Tooth Health Index: Evaluation of a Patient-Reported Outcome

scientific article published on 29 August 2018

The absence of myelin P0 protein produces a novel molecular phenotype in Schwann cells

Therapeutic strategies for the inherited neuropathies.

scientific article published on January 2006

Transient central nervous system white matter abnormality in X-linked Charcot-Marie-Tooth disease.

scientific article published in October 2002

Transmembrane protease serine 5: a novel Schwann cell plasma marker for CMT1A

scientific article published on 12 December 2019

Ultrasound: the future for evaluating the PNS in humans?

scientific article

Update on Charcot-Marie-Tooth disease

scientific article published on 08 August 2015

Update on Charcot-Marie-Tooth disease.

scientific article published on February 2011

Validation of MRC Centre MRI calf muscle fat fraction protocol as an outcome measure in CMT1A

scientific article published on 17 August 2018

Variant pathogenicity evaluation in the community-driven Inherited Neuropathy Variant Browser.

scientific article published on 22 February 2018

Vitamin A controls epithelial/mesenchymal interactions through Ret expression

scientific article

Women and men are equally disabled by Charcot-Marie-Tooth disease type 1A.

scientific article published on March 2007

X inactivation in females with X-linked Charcot-Marie-Tooth disease.

scientific article published on 6 April 2012

X-linked distal hereditary motor neuropathy maps to the DSMAX locus on chromosome Xq13.1-q21

scientific article published on 01 January 2009

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