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

Neurology, 1988-05, Vol.38 (5), p.763

1988

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

Neurology, 2002-06, Vol.58 (12), p.1769-1773

2002

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

Muscle & nerve, 2000-10, Vol.23 (10), p.1472-1487

2000

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

Annals of the New York Academy of Sciences, 1999-10, Vol.883 (1), p.477-480

1999

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

Annals of neurology, 1995-09, Vol.38 (3), p.429-436

1995

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

Brain (London, England : 1878), 2009-12, Vol.132 (12), p.3263-3273

2009

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

Annals of neurology, 1989-05, Vol.25 (5), p.511-513

1989

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PMP22 expression in dermal nerve myelin from patients with CMT1A

Brain (London, England : 1878), 2009-07, Vol.132 (7), p.1734-1740

2009

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

Molecular and cellular neuroscience, 2001-12, Vol.18 (6), p.606-618

2001

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

Journal of neuroscience research, 2000-06, Vol.60 (6), p.714-724

2000

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

Human molecular genetics, 2008-07, Vol.17 (13), p.1877-1889

2008

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

Neurology, 1984-10, Vol.34 (10), p.1336-1336

1984

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Motor neuron disease and plasma cell dyscrasia

Neurology, 1986-11, Vol.36 (11), p.1429-1429

1986

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Peripheral neuropathy associated with eosinophilia-myalgia syndrome

Annals of neurology, 1990-10, Vol.28 (4), p.522-528

1990

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

Brain (London, England : 1878), 2006-08, Vol.129 (8), p.2093-2102

2006

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Peripheral neuropathies caused by mutations in the myelin protein zero

Journal of the neurological sciences, 2006-03, Vol.242 (1), p.55-66

Shy, Michael E.

2006

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

Annals of the New York Academy of Sciences, 1999-10, Vol.883 (1), p.477-480

1999

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Obstructive sleep apnoea and CMT1A: answers and more questions

Journal of neurology, neurosurgery and psychiatry, 2008-07, Vol.79 (7), p.743-744

Shy, Michael E

2008

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Charcot-Marie-Tooth disease: an update

Current opinion in neurology, 2004-10, Vol.17 (5), p.579-585

Shy, Michael E

2004

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

The Journal of immunology (1950), 1984-11, Vol.133 (5), p.2509-2512

1984

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Inherited Peripheral Neuropathies

Neurologic clinics, 2013-05, Vol.31 (2), p.597-619

2013

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

Muscle & nerve, 2018-05, Vol.57 (5), p.749-755

2018

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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)

American journal of human genetics, 2007-09, Vol.81 (3), p.552-558

2007

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Axonal Charcot-Marie-Tooth disease

Current opinion in neurology, 2011-10, Vol.24 (5), p.475-483

2011

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Charcot-Marie-Tooth neuropathies: diagnosis and management

Seminars in neurology, 2008-04, Vol.28 (2), p.185-194

2008

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

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

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

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

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

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

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

PMP22 expression in dermal nerve myelin from patients with CMT1A

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

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

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

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

Motor neuron disease and plasma cell dyscrasia

Peripheral neuropathy associated with eosinophilia-myalgia syndrome

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

Peripheral neuropathies caused by mutations in the myelin protein zero

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

Obstructive sleep apnoea and CMT1A: answers and more questions

Charcot-Marie-Tooth disease: an update

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

Inherited Peripheral Neuropathies

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

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)

Axonal Charcot-Marie-Tooth disease

Charcot-Marie-Tooth neuropathies: diagnosis and management

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