M. Shy

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Schwann cell transcript biomarkers for hereditary neuropathy skin biopsies

J. Svaren, John J. Moran, Xingyao Wu, 2019, Annals of neurology.

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

M. Shy, J. Vallat, W. Xu, 2000, Journal of neuroscience research.

PMP22 expression in dermal nerve myelin from patients with CMT1A.

I. Katona, Xingyao Wu, M. Shy, 2009, Brain : a journal of neurology.

High-dosage ascorbic acid treatment in Charcot-Marie-Tooth disease type 1A: results of a randomized, double-masked, controlled trial.

R. Lewis, M. Mcdermott, D. Herrmann, 2013, JAMA neurology.

The relationship between anogenital distance and azoospermia in adult men.

M. Shy, L. Lipshultz, M. Eisenberg, 2012, International journal of andrology.

Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J

J. Lupski, K. Szigeti, M. Meisler, 2007, Nature.

Peripheral neuropathy in complex inherited diseases: an approach to diagnosis

S. Scherer, D. Pareyson, M. Shy, 2017, Journal of Neurology, Neurosurgery, and Psychiatry.

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

M. Shy, J. Kamholz, A. Sabet, 2006, Neurology.

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

Erik A Sistermans, Michael E Shy, G. Moore, 2002, Brain : a journal of neurology.

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

J. Lupski, S. Züchner, J. Vance, 2006, Brain : a journal of neurology.

PMP22 exon 4 deletion causes ER retention of PMP22 and a gain‐of‐function allele in CMT1E

J. Lupski, C. Zaidman, A. Connolly, 2017, Annals of clinical and translational neurology.

PMP 22 exon 4 deletion causes ER retention of PMP 22 and a gain-of-function allele in CMT 1 E

J. Lupski, C. Zaidman, A. Connolly, 2017 .

A novel mutation in VCP causes Charcot-Marie-Tooth Type 2 disease.

S. Blanton, Michael A. Gonzalez, T. Chou, 2014, Brain : a journal of neurology.

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

M. Shy, M. Ryan, J. Burns, 2010, Neurology.

Charcot–Marie–Tooth disease impairs quality of life

M. Rose, M. Shy, 2005, Neurology.

Mutation of FIG4 causes a rapidly progressive, asymmetric neuronal degeneration.

M. Meisler, M. Shy, Jun Li, 2008, Brain : a journal of neurology.

Charcot‐marie‐tooth disease subtypes and genetic testing strategies

M. Shy, S. Feely, S. Sottile, 2011, Annals of neurology.

Inherited peripheral neuropathies.

M. Shy, M. Saporta, 2013, Neurologic clinics.

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

S. Scherer, M. Shy, J. Kamholz, 1992, Proceedings of the National Academy of Sciences of the United States of America.

Dynein mutations associated with hereditary motor neuropathies impair mitochondrial morphology and function with age

Y. Larmet, A. Ludolph, M. Shy, 2013, Neurobiology of Disease.

Symmetry of foot alignment and ankle flexibility in paediatric Charcot-Marie-Tooth disease.

R. Finkel, F. Muntoni, D. Pareyson, 2012, Clinical biomechanics.

Incidence and Clinical Features of TRPV4-Linked Axonal Neuropathies in a USA Cohort of Charcot–Marie–Tooth Disease Type 2

T. Siddique, M. Shy, S. Feely, 2019, NeuroMolecular Medicine.

Inherited neuropathies: Clinical overview and update

C. Klein, M. Shy, X. Duan, 2013, Muscle & nerve.

Increased survival and function of SOD1 mice after glial cell-derived neurotrophic factor gene therapy.

R. Lewis, G. Toth, M. Shy, 2002, Human gene therapy.

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

Shawna, R. Finkel, M. Shy, 2020 .

Gain of glycosylation: A new pathomechanism of myelin protein zero mutations

E. Bellone, G. Mancardi, A. Schenone, 2012, Annals of neurology.

The audiologic profile of patients with Charcot-Marie Tooth neuropathy can be characterised by both cochlear and neural deficits

M. Shy, T. Grider, Nicholas P Giuliani, 2019, International journal of audiology.

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

T. Beißbarth, B. Schlotter-Weigel, A. Leha, 2017, Journal of Neurology, Neurosurgery, and Psychiatry.

Variant pathogenicity evaluation in the community‐driven Inherited Neuropathy Variant Browser

S. Züchner, D. Herrmann, S. Scherer, 2018, Human mutation.

Defining disability: development and validation of a mobility-Disability Severity Index (mDSI) in Charcot-Marie-tooth disease

E. Feldman, M. Shy, C. Siskind, 2014, Journal of Neurology, Neurosurgery & Psychiatry.

Assessing non-Mendelian Inheritance in Inherited Axonopathies

Dana M. Bis-Brewer, H. Hakonarson, R. Finkel, 2020, Genetics in Medicine.

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

A. Rebelo, S. Zuchner, C. Bacon, 2017, Journal of Neurology, Neurosurgery, and Psychiatry.

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

Yunhong Bai, M. Shy, M. Grandis, 2006, The Journal of comparative neurology.

29 – Myelin Protein Zero and CMT1B: A Tale of Two Phenotypes

M. Shy, J. Kamholz, Jun Li, 2007 .

Treatment with IFB-088 Improves Neuropathy in CMT1A and CMT1B Mice

F. Baas, Yunhong Bai, M. Shy, 2021, Molecular Neurobiology.

Natural history of Charcot‐Marie‐Tooth disease during childhood

R. Finkel, F. Muntoni, D. Herrmann, 2017, Annals of neurology.

Fatty acid synthase expression during peripheral nervous system myelination.

M. Shy, L. Witters, Huiyuan Jiang, 2002, Brain research. Molecular brain research.

Protein Zero Is Necessary for E-Cadherin-Mediated Adherens Junction Formation in Schwann Cells

S. Scherer, M. Shy, J. Vallat, 2001, Molecular and Cellular Neuroscience.

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

S. Scherer, M. Shy, J. Kamholz, 1996, Journal of neuroscience research.

A molecular basis for hereditary motor and sensory neuropathy disorders

M. Shy, J. Lilien, J. Kamholz, 2001, Current neurology and neuroscience reports.

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

M. Shy, A. Sumner, R. Lewis, 2000, Muscle & nerve.

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

M. Shy, A. Sumner, R. Lewis, 2000 .

Accelerate Clinical Trials in Charcot-Marie-Tooth Disease (ACT-CMT): A Protocol to Address Clinical Trial Readiness in CMT1A

M. Mcdermott, D. Herrmann, S. Scherer, 2022, Frontiers in Neurology.

Are we prepared for clinical trials in Charcot-Marie-Tooth disease?

M. Shy, M. Reilly, A. Rossor, 2019, Brain Research.

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

R. Finkel, F. Muntoni, D. Herrmann, 2020, Annals of clinical and translational neurology.

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

R. Finkel, S. Züchner, F. Muntoni, 2020, Neurology.

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

J. Svaren, K. Call, John J. Moran, 2019, Annals of clinical and translational neurology.

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

D. Pareyson, M. Shy, 2018, Neurology.

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

P. Nopoulos, D. Thedens, T. Yousry, 2018, Neurology.

Reliability of the CMT neuropathy score (second version) in Charcot‐Marie‐Tooth disease

M. Mcdermott, D. Herrmann, S. Scherer, 2011, Journal of the peripheral nervous system : JPNS.

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

F. Muntoni, D. Pareyson, M. Shy, 2010, Neuromuscular Disorders.

A multicenter retrospective study of charcot‐marie‐tooth disease type 4B (CMT4B) associated with mutations in myotubularin‐related proteins (MTMRs)

A. Mégarbané, L. Santoro, Y. Parman, 2019, Annals of neurology.

Myelin protein zero/P0 phosphorylation and function require an adaptor protein linking it to RACK1 and PKCα

M. Shy, J. Lilien, J. Kamholz, 2007, The Journal of cell biology.

Hereditary Neuropathies in Late Childhood and Adolescence

M. Shy, K. Brennan, 2015 .

Demyelinating CMT–what’s known, what’s new and what’s in store?

Yunhong Bai, M. Shy, K. Brennan, 2015, Neuroscience Letters.

Axonal Charcot-Marie-Tooth disease.

M. Shy, Á. Patzkó, 2011, Current opinion in neurology.

Diagnosis and new treatments in genetic neuropathies

M. Shy, M. Reilly, 2009, Journal of Neurology, Neurosurgery & Psychiatry.

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

M. Shy, N. Jerath, Nivedita U. Jerath, 2017, Muscle & nerve.

Diabetes mellitus exacerbates motor and sensory impairment in CMT1A

M. Shy, S. Feely, C. Siskind, 2008, Journal of the peripheral nervous system : JPNS.

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

M. Mcdermott, M. Mcdermott, D. Herrmann, 2008, Neurology.

Chapter 71 – Hereditary Motor and Sensory Neuropathies Related to MPZ (P0) Mutations

M. Shy, 2005 .

MFN2 mutations in Charcot–Marie–Tooth disease alter mitochondria-associated ER membrane function but do not impair bioenergetics

E. Schon, R. Horvath, M. Shy, 2019, Human molecular genetics.

Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene.

R. Finkel, F. Muntoni, D. Herrmann, 2015, Brain : a journal of neurology.

Monoclonal IgM with unique specificity to gangliosides GM1 and GD1b and to lacto‐N ‐tetraose associated with human motor neuron disease

E. Kabat, J. Albers, M. Shy, 1988, Neurology.

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

M. Shy, L. Rowland, S. J. Zuckerman, 1987, Archives of neurology.

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

M. Shy, Jun Li, K. Krajewski, 2004, Muscle & nerve.

Hereditary neuropathy with liability to pressure palsy

R. Lewis, M. Shy, Jun Li, 2002, Neurology.

Regulation of Insulin-Like Growth Factor-Binding Protein-5 Expression during Schwann Cell Differentiation1.

E. Feldman, M. Shy, Hsin‐Lin Cheng, 1999, Endocrinology.

Motor neuron disease and plasma cell dyscrasia

R. Lovelace, W. Trojaborg, M. Shy, 1986, Neurology.

Regulation of Myelin‐Specific Gene Expression: Relevance to CMT1

M. Shy, J. Kamholz, R. Awatramani, 1999, Annals of the New York Academy of Sciences.

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

L. Santoro, M. Nolano, V. Provitera, 2017, Neurology.

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

J. Svaren, John J. Moran, Xingyao Wu, 2018, Annals of clinical and translational neurology.

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

M. Shy, S. Feely, C. Siskind, 2018, Annals of neurology.

Stoichiometric alteration of PMP22 protein determines the phenotype of hereditary neuropathy with liability to pressure palsies.

M. Shy, Jun Li, G. Nicholson, 2007, Archives of neurology.

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

D. Herrmann, M. Shy, M. Reilly, 2016, Neurology.

Asymmetric flaccid paralysis: A neuromuscular presentation of West Nile virus infection

J. Loeb, M. Shy, Jun Li, 2003, Annals of neurology.

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

K. Amunts, W. Maier, D. Timmann, 2017, Brain : a journal of neurology.

Inherited Peripheral Neuropathies: Charcot–Marie–Tooth Disease

M. Shy, Jun Li, Richard F. Lewis, 2005 .

GENETICS OF NEUROPATHY

M. Shy, K. Krajewski, 2005 .

Chapter 12 – Peripheral Neuropathies

M. Shy, M. Saporta, 2015 .

428 – Peripheral Neuropathies

M. Shy, 2012 .

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

M. Shy, G. Nicholson, J. Garbern, 2009, Advances in experimental medicine and biology.

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

M. Shy, T. Heiman-Patterson, E. Nobile‐Orazio, 1993, Journal of the Neurological Sciences.

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

M. Shy, P. Fishman, P. Thompson, 1991, Archives of neurology.

Lower motor neuron disease in a patient with auto‐antibodies against Gal(β 1‐3)GalNAc in gangliosides GM1 and GD1b

G. Parry, M. Shy, T. Heiman-Patterson, 1990, Neurology.

Measurement and significance of antibodies against GM1 ganglioside Report of a workshop, 18 April 1989, Chicago, IL, U.S.A.

A. Pestronk, J. Antel, A. Steck, 1989, Journal of Neuroimmunology.

Antibodies to GM1 and GD1b in patients with motor neuron disease without plasma cell dyscrasia

R. Knobler, G. Parry, F. Lublin, 1989, Annals of neurology.

PMP 22 expression in dermal nerve myelin from patients with CMT 1 A

I. Katona, Xingyao Wu, M. Shy, 2009 .

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

R. Lewis, M. Shy, Jun Li, 2002 .

A recurrent GARS mutation causes distal hereditary motor neuropathy

S. Scherer, A. Antonellis, C. Bacon, 2019, Journal of the peripheral nervous system : JPNS.

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

S. Züchner, C. Francklyn, S. Oprescu, 2018, Human mutation.

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

C. Reddy, L. Gutmann, M. Shy, 2016, Muscle & nerve.

CMT1X phenotypes represent loss of GJB1 gene function

S. Scherer, P. Ainsworth, M. Shy, 2007, Neurology.

CMT 1 X phenotypes represent loss of GJB 1 gene function

S. Scherer, P. Ainsworth, M. Shy, 2007 .

Hereditary motor neuropathy and heat shock proteins

M. Shy, C. Gooch, 2008, Neurology.

Validation of the Italian version of the Charcot‐Marie‐Tooth disease Pediatric Scale

D. Pareyson, A. Schenone, R. Zuccarino, 2020, Journal of the peripheral nervous system : JPNS.

Genetic testing in neuromuscular disease.

M. Shy, K. Krajewski, 2004, Neurologic clinics.

Rare Manifestation of a c.290 C>T, p.Gly97Glu VCP Mutation

Michael A. Gonzalez, T. Chou, S. Zuchner, 2015, Case reports in genetics.

Biology of peripheral inherited neuropathies: Schwann cell axonal interactions.

M. Shy, 2009, Advances in experimental medicine and biology.

H. Nagaraja, G. Parry, J. Mendell, 2001, Neurology.

Chronic inflammatory demyelinating polyneuropathy associated with malignant melanoma

S. Scherer, M. Shy, Mark J. Brown, 1996, Neurology.

Current therapy for Charcot-Marie-Tooth disease

M. Shy, M. Grandis, 2005, Current treatment options in neurology.

Update on Charcot-Marie-Tooth disease.

L. Gutmann, M. Shy, 2015, Current opinion in neurology.

Update on Charcot-Marie-Tooth Disease

M. Shy, Á. Patzkó, 2011, Current neurology and neuroscience reports.

Introduction to the Third International Symposium on Charcot‐Marie‐Tooth Disorders

R. Lovelace, M. Shy, J. Kamholz, 1999, Annals of the New York Academy of Sciences.

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

E. Feldman, M. Shy, H. Cheng, 1999, Endocrinology.

Disorders of Pulmonary Function, Sleep, and the Upper Airway in Charcot-Marie-Tooth Disease

R. Lewis, M. Shy, L. Aboussouan, 2007, Lung.

CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis

Jun Yu Li, R. Finkel, S. Züchner, 2014, Journal of Neurology, Neurosurgery & Psychiatry.

Heterozygous P0 knockout mice develop a peripheral neuropathy that resembles chronic inflammatory demyelinating polyneuropathy (CIDP).

S. Scherer, M. Shy, W. Xu, 1997, Journal of neuropathology and experimental neurology.

MpzR98C arrests Schwann cell development in a mouse model of early-onset Charcot-Marie-Tooth disease type 1B.

D. Kirschner, M. Pennuto, Xingyao Wu, 2012, Brain : a journal of neurology.

MpzR 98 C arrests Schwann cell development in a mouse model of early-onset Charcot – Marie – Tooth disease type 1 B

D. Kirschner, M. Pennuto, Xingyao Wu, 2012 .

Genetics of neuropathies.

M. Shy, C. Siskind, 2011, Seminars in neurology.

Targeted next-generation sequencing panels in the diagnosis of Charcot-Marie-Tooth disease

H. Houlden, M. Shy, J. Polke, 2019, Neurology.

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

R. Lewis, D. Herrmann, S. Scherer, 2017, Muscle & nerve.

221st ENMC International Workshop: Foot Surgery in Charcot-Marie-Tooth disease. 10–12 June 2016, Naarden, The Netherlands

J. Louwerens, D. Pareyson, M. Shy, 2017, Neuromuscular Disorders.

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

R. Lewis, R. Horvath, D. Herrmann, 2017, Neurology.

Phenotypic Variability of Childhood Charcot-Marie-Tooth Disease.

R. Finkel, F. Muntoni, D. Herrmann, 2016, JAMA neurology.

Gene therapy, CMT1X, and the inherited neuropathies

M. Shy, 2016, Proceedings of the National Academy of Sciences.

Genetic testing practices for Charcot–Marie–Tooth type 1A disease

A. Trepanier, M. Shy, C. Siskind, 2014, Muscle & nerve.

PSYCHOMETRIC EVALUATION OF CHARCOT-MARIE-TOOTH DISEASE (CMT) NEUROPATHY SCORE (CMTNS) VERSION 2.0 USING RASCH ANALYSIS

D. Pareyson, M. Shy, M. Reilly, 2013 .

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

Jun Yu Li, M. Shy, M. Reilly, 2005, Neurology.

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

M. Shy, N. Jerath, Nivedita U Jerath, 2017, Journal of neuromuscular diseases.

Overcoming Cellular Immunity to Prolong Adenoviral‐Mediated Gene Expression in Sciatic Nerve

M. Shy, J. Kamholz, G. Acsadi, 1999, Annals of the New York Academy of Sciences.

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

P. Tonali, A. Quattrone, L. Padua, 2008, Journal of the peripheral nervous system : JPNS.

Evidence for neuroaxonal injury in patients with proteolipid gene mutations

M. Shy, J. Kamholz, J. Garbern, 2001, Neurology.

An adenoviral vector can transfer lacZ expression into schwann cells in culture and in sciatic nerve

S. Scherer, M. Shy, J. Kamholz, 1995, Annals of neurology.

Reply: The classification of Charcot-Marie-Tooth diseases, a never-ending story: CMT4?

M. Shy, 2018, Brain : a journal of neurology.

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

M. Shy, M. Saporta, 2017, Brain : a journal of neurology.

Genetics and adult-onset chronic idiopathic axonal neuropathy

M. Shy, 2020, Neurology.

Expression of P0 protein mRNA along rat sciatic nerve during development.

D. Pleasure, M. Shy, P. Baron, 1994, Brain research. Developmental brain research.

Association Between Body Mass Index and Disability in Children With Charcot-Marie-Tooth Disease

R. Finkel, F. Muntoni, S. Garnett, 2021, Neurology.

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

K. Fischbeck, R. Lenkinski, H. Paulson, 2002, Annals of neurology.

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

M. Shy, H. Jiang, J. Kamholz, 1999, Human gene therapy.

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

Yunhong Bai, M. Shy, Jun Li, 2006, Archives of neurology.

Charcot-Marie-Tooth neuropathies: diagnosis and management.

M. Shy, A. Jani-Acsadi, K. Krajewski, 2008, Seminars in neurology.

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

C. Gabel, M. Shy, N. Latov, 1986, Journal of Neuroimmunology.

Peripheral neuropathy associated with eosinophilia‐myalgia syndrome

G. Parry, M. Shy, T. Heiman-Patterson, 1990, Annals of neurology.

The Absence of Myelin P0 Protein Produces a Novel Molecular Phenotype in Schwann Cell

M. Shy, J. Vallat, P. Baron, 1999, Annals of the New York Academy of Sciences.

Peripheral Neuropathy Caused by Proteolipid Protein Gene Mutations

G. Kraft, R. Lewis, T. Bird, 1999, Annals of the New York Academy of Sciences.

Phase 2 Trial of Rituximab in Acetylcholine Receptor Antibody-Positive Generalized Myasthenia Gravis: The BeatMG Study.

R. Conwit, M. Benatar, D. Hafler, 2021, Neurology.

Conduction Block in PMP22 Deficiency

I. Katona, U. Suter, Yunhong Bai, 2010, The Journal of Neuroscience.

Specificity of mouse and human monoclonal antibodies to myelin‐associated glycoprotein

M. Shy, A. Hays, N. Latov, 1984, Neurology.

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

J. Lupski, R. Gibbs, E. Boerwinkle, 2015, Cell reports.

Charcot‐Marie‐Tooth disease and related neuropathies: Mutation distribution and genotype‐phenotype correlation

J. Lupski, C. Boerkoel, M. Scavina, 2002, Annals of neurology.

Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy.

T. Ferguson, T. Bird, S. Kaler, 2010, American journal of human genetics.

Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (cmtx5).

Y. Suh, Hee-Jin Kim, C. Ki, 2007, American journal of human genetics.

Mitochondrial Phenotypes in Genetically Diverse Neurodegenerative Diseases and Their Response to Mitofusin Activation

G. Dorn, M. Shy, R. Baloh, 2022, Cells.

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

F. Baas, S. Züchner, J. Vance, 2006, Annals of neurology.

Charcot-Marie-Tooth disease type 1: molecular pathogenesis to gene therapy.

S. Scherer, M. Shy, J. Lilien, 2000, Brain : a journal of neurology.

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

M. Shy, S. Feely, J. Garbern, 2009, Neurology.

Hereditary neuropathies: A pathological perspective

M. Shy, J. Vallat, G. Fabrizi, 2021, Journal of the peripheral nervous system : JPNS.

Therapeutic strategies for the inherited neuropathies

M. Shy, 2007, NeuroMolecular Medicine.

Hereditary Motor and Sensory Neuropathies: An Overview of Clinical, Genetic, Electrophysiologic, and Pathologic Features

J. Lupski, P. Dyck, C. Klein, 2005 .

Hereditary motor and sensory neuropathies: a biological perspective

Michael E Shy, M. Shy, J. Kamholz, 2002, The Lancet Neurology.

Structure and expression of proteolipid protein in the peripheral nervous system

D. Pleasure, S. Scherer, M. Shy, 1992, Journal of neuroscience research.

Charcot-Marie-Tooth disease

L. Santoro, M. Nolano, V. Provitera, 2015, Neurology.

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

D. Herrmann, M. Shy, R. Lewis, 2011, Journal of the peripheral nervous system : JPNS.

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

I. Katona, R. Lewis, M. Shy, 2009, Brain : a journal of neurology.

Neurological dysfunction and axonal degeneration in Charcot-Marie-Tooth disease type 1A.

S. Hinderer, M. Shy, J. Kamholz, 2000, Brain : a journal of neurology.

Correlation between Weakness and Axonal Loss in Patients with CMT1A

S. Hinderer, M. Shy, J. Kamholz, 1999, Annals of the New York Academy of Sciences.

Quantitative sensory testing

J C Arezzo, J. Ochoa, J. Arezzo, 2003, Neurology.

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

Gaofeng Wang, S. Züchner, J. Vance, 2010, Journal of Neurology.

Regulating PMP22 expression as a dosage sensitive neuropathy gene

J. Svaren, M. Shy, H. Pantera, 2020, Brain Research.

Variation in SIPA1L2 is correlated with phenotype modification in Charcot– Marie– Tooth disease type 1A

F. Baas, S. Züchner, G. Beecham, 2019, Annals of neurology.

The molecular pathogenesis of Pelizaeus-Merzbacher disease.

M. Shy, J. Kamholz, J. Garbern, 1999, Archives of neurology.

Charcot–Marie–Tooth Disease type 4C: Novel mutations, clinical presentations, and diagnostic challenges

T. Crawford, M. Shy, T. Heiman-Patterson, 2018, Muscle & nerve.

Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1

S. Klebe, S. Züchner, B. Bender, 2015, Journal of Neurology.

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

M. Shy, N. Jerath, Nivedita U Jerath, 2015, Biochimica et biophysica acta.

T118M PMP22 mutation causes partial loss of function and HNPP‐like neuropathy

J. Lupski, K. Szigeti, M. Scavina, 2006, Annals of neurology.

Inherited Peripheral Neuropathies

Michael E Shy, M. Shy, 2011, Continuum.

GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria.

Xingyao Wu, M. Shy, L. Pedrola, 2005, Human molecular genetics.

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

J. Lupski, K. Szigeti, W. Wiszniewski, 2005, Human mutation.

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

T. Beißbarth, B. Schlotter-Weigel, A. Leha, 2014, Neuromuscular Disorders.

Proteolipid Protein Is Necessary in Peripheral as Well as Central Myelin

G. Kraft, R. Lewis, T. Bird, 1997, Neuron.

Strategy for genetic testing in Charcot-Marie-Disease

M. Shy, S. Feely, S. Sottile, 2011, Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology.

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

I. Katona, F. Sarkar, D. Kirschner, 2012, Brain : a journal of neurology.

Development and Validation of the Pediatric Charcot–Marie–Tooth Disease Quality of Life Outcome Measure

R. Finkel, M. Shy, S. Feely, 2020, Annals of neurology.

New and emerging treatments of Charcot–Marie–Tooth disease

M. Shy, K. Brennan, 2015 .

Unfolded protein response, treatment and CMT1B

M. Shy, Á. Patzkó, Y. Bai, 2013, Rare diseases.

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

M. Shy, W. Xu, H. Jiang, 1999, Annals of the New York Academy of Sciences.

Mutations in the cytoplasmic domain of P0 reveal a role for PKC-mediated phosphorylation in adhesion and myelination

M. Shy, J. Lilien, J. Kamholz, 2001, The Journal of cell biology.

A nonsense mutation in myelin protein zero causes congenital hypomyelination neuropathy through altered P0 membrane targeting and gain of abnormal function

M. Shy, L. Wrabetz, A. Quattrini, 2018, bioRxiv.

Absence of Dystrophin Related Protein-2 disrupts Cajal bands in a patient with Charcot–Marie–Tooth disease

S. Züchner, D. Sherman, P. Brophy, 2015, Neuromuscular Disorders.

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

F. Baas, S. Züchner, G. Beecham, 2014, Human molecular genetics.

Different cellular and molecular mechanisms for early and late-onset myelin protein zero mutations.

G. Mancardi, A. Schenone, L. Nobbio, 2008, Human molecular genetics.

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

D. Herrmann, M. Shy, J. Cleland, 2006, Muscle & nerve.

Loss of function MPZ mutation causes milder CMT1B neuropathy

M. Shy, A. Quattrini, S. Previtali, 2021, Journal of the peripheral nervous system : JPNS.

Phenotypic clustering in MPZ mutations.

Richard A Lewis, Jun Li, Michael E Shy, 2004, Brain : a journal of neurology.

Distinct pathogenic processes between Fig4‐deficient motor and sensory neurons

I. Katona, M. Shy, Jiasong Guo, 2011, The European journal of neuroscience.

Charcot-Marie-Tooth disease: an update

M. Shy, 2004, Current opinion in neurology.

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

E. Schon, K. Mathews, A. Rebelo, 2018, Brain : a journal of neurology.

Charcot-Marie-Tooth Disease and Related Genetic Neuropathies

M. Shy, Á. Patzkó, 2012, Continuum.

Phenotype expression in women with CMT1X

Mary M Reilly, Carly E Siskind, Sinéad M Murphy, 2011, Journal of the peripheral nervous system : JPNS.

A neuropathy‐associated kinesin KIF1A mutation hyper‐stabilizes the motor‐neck interaction during the ATPase cycle

N. Hirokawa, S. Zuchner, M. Shy, 2022, The EMBO journal.

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

H. Houlden, M. Shy, C. Siskind, 2012, Neuromuscular Disorders.

Balance impairment in pediatric charcot–marie–tooth disease

R. Finkel, F. Muntoni, D. Herrmann, 2019, Muscle & nerve.

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

S. Scherer, M. Shy, H. Jiang, 2000, Journal of neurobiology.

Vitamin A controls epithelial/mesenchymal interactions through Ret expression

E. Batourina, F. Costantini, M. Shy, 2001, Nature Genetics.

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

M. Shy, D. Fuerst, E. R. Swan, 2007, Neurology.

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

M. Shy, J. Kamholz, 2004, Neurology.

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

M. Shy, T. Grider, L. Gutmann, 2015, Muscle & nerve.

Persistent CNS dysfunction in a boy with CMT1X

M. Shy, S. Feely, C. Siskind, 2009, Journal of the Neurological Sciences.

Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes

Dana M. Bis-Brewer, R. Finkel, F. Muntoni, 2020, Nature Genetics.

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

Stephan Züchner, William Hulme, S. Züchner, 2011, Annals of neurology.

Specificity of human IgM M-proteins that bind to myelin-associated glycoprotein: peptide mapping, deglycosylation, and competitive binding studies.

M. Shy, N. Latov, E. Nobile‐Orazio, 1984, Journal of immunology.

Prospective study of muscle cramps in Charcot‐Marie‐Tooth disease

Joshua Burns, Katy Eichinger, Michael E Shy, 2015, Muscle & nerve.

Lessons from London

Michael E Shy, M. Shy, 2012, Journal of Neurology, Neurosurgery & Psychiatry.

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

E. Bertini, M. Shy, J. Kamholz, 2003, Annals of neurology.

Burst mitofusin activation reverses neuromuscular dysfunction in murine CMT2A

A. Yoo, M. Shy, T. Miller, 2020, eLife.

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

John T. Dimos, B. Zou, R. Liem, 2015, Experimental Neurology.

Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study

R. Finkel, S. Züchner, F. Muntoni, 2020, Brain : a journal of neurology.

Virtual Charcot-Marie-Tooth Examination Score

R. Zuccarino, M. Shy, M. Reilly, 2022, Neurology. Clinical practice.

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

Yi-Chung Lee, L. Santoro, G. Ravenscroft, 2018, American journal of human genetics.

Heterozygous null mutation in the P0 gene associated with mild Charcot-Marie-Tooth disease.

D. Pareyson, M. Shy, M. Mora, 1999, Annals of the New York Academy of Sciences.

Ultrasound: the future for evaluating the PNS in humans?

M. Shy, 2014, Journal of Neurology, Neurosurgery & Psychiatry.

Electrodiagnostic Findings in CMTX: A Disorder of the Schwann Cell and Peripheral Nerve Myelin

M. Shy, R. Lewis, 1999, Annals of the New York Academy of Sciences.

Validation of the Charcot–Marie–Tooth disease pediatric scale as an outcome measure of disability

R. Finkel, M. Lek, F. Muntoni, 2012, Annals of neurology.

Exome Sequencing Identifies a New Locus for DI-CMT (P05.143)

S. Züchner, S. Blanton, Michael A. Gonzalez, 2012 .

Peripheral neuropathies caused by mutations in the myelin protein zero

M. Shy, 2006, Journal of the Neurological Sciences.

Small nerve fiber involvement in CMT1A

L. Santoro, M. Nolano, V. Provitera, 2015, Neurology.

Randomized Phase 2 Study of ACE-083 in Patients With Charcot-Marie-Tooth Disease

A. Pestronk, S. Subramony, J. Statland, 2022, Neurology.

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

M. Shy, Byung-Ok Choi, B. Suh, 2008, Neuromuscular Disorders.

MicroRNAs as Biomarkers of Charcot-Marie-Tooth Disease Type 1A

J. Svaren, K. Call, Xingyao Wu, 2021, Neurology.

Advances in diagnosis and management of distal sensory polyneuropathies

R. Dortch, E. Feldman, M. Shy, 2023, Journal of Neurology, Neurosurgery, and Psychiatry.

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

M. Shy, 2018, The Journal of clinical investigation.

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

S. Züchner, Michael A. Gonzalez, S. Brandner, 2017, Journal of Neurology, Neurosurgery, and Psychiatry.

Clinical practice guideline for the management of paediatric Charcot-Marie-Tooth disease

R. Finkel, M. Shy, C. Siskind, 2022, Journal of Neurology, Neurosurgery, and Psychiatry.

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

Richard A Lewis, Jun Li, Michael E Shy, 2003, Muscle & nerve.

A CADM3 variant causes Charcot-Marie-Tooth disease with marked upper limb involvement.

R. Shiekhattar, E. Peles, D. Burns, 2021, Brain : a journal of neurology.

The Rare Disease Research Scholars Program: A training curriculum for clinical researchers with mixed methods evaluation study

M. Shy, M. Summar, M. Batshaw, 2021, Translational science of rare diseases.

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

Christof Karmonik, Rose Khavari, C. Karmonik, 2017, The Journal of urology.

532 nm Laser Photoselective Vaporization of the Prostate

M. Shy, R. Gonzalez, V. Lizarraga, 2015 .

Quality-of-life in Charcot–Marie–Tooth disease: The patient’s perspective

D. Herrmann, M. Shy, Denise Shereff, 2014, Neuromuscular Disorders.

Neurological Dysfunction And Axonal Degeneration In Charcot‐Marie‐Tooth Disease Type 1A

M. Shy, J. Kamholz, J. Garbern, 2001 .

Charcot-Marie-Tooth neuropathy score and ambulation index are both predictors of orthotic need for patients with CMT

A. Schenone, R. Zuccarino, M. Shy, 2021, Neurological Sciences.

Satisfaction with ankle foot orthoses in individuals with Charcot‐Marie‐Tooth disease

J. Wilken, R. Zuccarino, M. Shy, 2020, Muscle & nerve.

PD1-05 HIGHER NEURAL CORRELATES FOLLOWING INTRAVESICAL BOTULINUM TOXIN- A IN MULTIPLE SCLEROSIS (MS) PATIENTS VIA CONCURRENT FUNCTIONAL MAGNETIC RESONANCE IMAGING (FMRI) AND URODYNAMIC STUDIES (UDS)

Abdulaziz K Alkattan, C. Karmonik, M. Shy, 2015 .

Carpal tunnel syndrome in inherited neuropathies: A retrospective survey

D. Herrmann, S. Scherer, M. Shy, 2018, Muscle & nerve.

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

Christof Karmonik, Rose Khavari, Timothy B Boone, 2014, The Journal of urology.

Psychometrics evaluation of Charcot‐Marie‐Tooth Neuropathy Score (CMTNSv2) second version, using Rasch analysis

D. Pareyson, C. Bacon, M. Shy, 2014, Journal of the peripheral nervous system : JPNS.

Trials for Slowly Progressive Neurogenetic Diseases Need Surrogate Endpoints

R. Finkel, S. Züchner, D. Herrmann, 2023, Annals of neurology.

Disease Progression in Charcot–Marie–Tooth Disease Related to MPZ Mutations: A Longitudinal Study

Jun Yu Li, R. Finkel, F. Muntoni, 2022, Annals of neurology.

CMT AND NEUROGENIC DISEASE P.339Preliminary phase 2 results for ACE-083, local muscle therapeutic, in patients with CMT1 and CMTX

J. Statland, M. Shy, S. Subramony, 2018, Neuromuscular Disorders.

Skin biopsies in myelin-related neuropathies: bringing molecular pathology to the bedside.

A. Schenone, Xingyao Wu, M. Shy, 2005, Brain : a journal of neurology.

Reduced neurofilament expression in cutaneous nerve fibers of patients with CMT2E

Michael A. Gonzalez, S. Zuchner, Xingyao Wu, 2015, Neurology.

Neuropathy in a human without the PMP22 gene.

I. Katona, U. Suter, M. Shy, 2011, Archives of neurology.

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

J. Ochoa, J. Stevens, P. Dyck, 1998, Neurology.

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

M. Shy, Nivedita U Jerath, 2017, Journal of clinical neurophysiology : official publication of the American Electroencephalographic Society.

Validation of the parent‐proxy pediatric Charcot‐Marie‐Tooth disease quality of life outcome measure

R. Finkel, M. Shy, S. Feely, 2023, Journal of the peripheral nervous system : JPNS.

Reliability of the Charcot-Marie-Tooth functional outcome measure.

D. Herrmann, S. Scherer, D. Pareyson, 2020, Journal of the peripheral nervous system : JPNS.

Development and validation of the Charcot-Marie-Tooth Disease Infant Scale

K. Refshauge, D. Herrmann, D. Pareyson, 2018, Brain : a journal of neurology.

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

D. Herrmann, C. Bacon, M. Shy, 2018, Neurology.

Transitioning outcome measures: relationship between the CMTPedS and CMTNSv2 in children, adolescents, and young adults with Charcot‐Marie‐Tooth disease

R. Finkel, F. Muntoni, D. Herrmann, 2013, Journal of the peripheral nervous system : JPNS.

MFN2 mutations cause severe phenotypes in most patients with CMT2A

M. Shy, M. Davis, S. Feely, 2011, Neurology.

Heterozygous Null Mutation in the P0 Gene Associated with Mild Charcot‐Marie‐Tooth Disease

D. Pareyson, M. Shy, F. Taroni, 1999, Annals of the New York Academy of Sciences.

An Adenoviral Vector Can Transfer lac2

S. Scherer, M. Shy, J. Kamholz, 2004 .

Monoclonal anti-DNA IgM kappa in neuropathy binds to myelin and to a conformational epitope formed by phosphatidic acid and gangliosides.

K. G. Nickerson, M. Shy, C. Vedeler, 1986, Journal of immunology.

Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association Study

F. Baas, S. Züchner, G. Beecham, 2019, Journal of neuromuscular diseases.

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

M. Shy, S. Fletcher, 2013, Current Bladder Dysfunction Reports.

Phenotypic presentation of the Ser63Del MPZ mutation

M. Shy, L. J. Miller, Á. Patzkó, 2012, Journal of the peripheral nervous system : JPNS.

Detection of Copy Number Variation by SNP-Allelotyping

N. Schnetz-Boutaud, Xingyao Wu, M. Shy, 2015, Journal of neurogenetics.

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

M. Shy, W. Xu, H. Jiang, 1999, Annals of the New York Academy of Sciences.

The relationship between anogenital distance and the efficacy of varicocele repair

M. Shy, L. Lipshultz, M. Eisenberg, 2012, BJU international.

Effect of pain in pediatric inherited neuropathies

E. Feldman, M. Shy, S. Ramchandren, 2014, Neurology.

Different cellular and molecular mechanisms for early and late-onset myelin protein zero mutations.

G. Mancardi, A. Schenone, L. Nobbio, 2008, Human molecular genetics.

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

M. Mcdermott, D. Herrmann, M. Shy, 2018, Annals of neurology.

Anterior tibialis cmap amplitude correlations with impairment in CMT1A

M. Shy, S. Feely, C. Siskind, 2013, Muscle & nerve.

Biallelic pathogenic variants in the mitochondrial form of phosphoenolpyruvate carboxykinase cause peripheral neuropathy

J. Dowling, Dahai Wang, M. Shy, 2023, HGG advances.

Myelin protein zero/P0 phosphorylation and function require an adaptor protein linking it to RACK1 and PKCα

M. Shy, J. Lilien, J. Kamholz, 2007, The Journal of cell biology.

Distribution of PLP and P0 mRNA during Rat Peripheral Nerve Development

D. Pleasure, M. Shy, P. Baron, 1990 .

Charcot-Marie-Tooth neuropathies: diagnosis and management.

M. Shy, K. Krajewski, Agnes Jani-Acsadi, 2008, Seminars in neurology.

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

J. Lupski, C. Boerkoel, L. Potocki, 2003, Brain : a journal of neurology.

Author Correction: Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes

Dana M. Bis-Brewer, R. Finkel, F. Muntoni, 2020, Nature Genetics.

Quality-of-life in Charcot–Marie–Tooth disease: The patient’s perspective

D. Herrmann, M. Shy, Denise Shereff, 2014, Neuromuscular Disorders.

A novel mutation in VCP causes Charcot-Marie-Tooth Type 2 disease.

S. Blanton, Michael A. Gonzalez, T. Chou, 2014, Brain : a journal of neurology.

Quantitative sensory testing

J. Ochoa, J. Arezzo, Y. So, 2003, Neurology.

Quantitative sensory testing

J. Ochoa, J. Arezzo, Y. So, 2003, Neurology.

Inclusion body myositis and sarcoid myopathy: Coincidental occurrence or associated diseases

M. Shy, A. Gerke, S. Moore, 2015, Neuromuscular Disorders.

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

C. Karmonik, M. Shy, T. Boone, 2014, The Journal of urology.

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

H. Houlden, M. Shy, C. Siskind, 2012, Neuromuscular Disorders.

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

I. Katona, F. Sarkar, D. Kirschner, 2012, Brain : a journal of neurology.