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

Journal of neurology, neurosurgery and psychiatry, 2015-08, Vol.86 (8), p.873-878

2015

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MFN2 mutations cause severe phenotypes in most patients with CMT2A

Neurology, 2011-05, Vol.76 (20), p.1690

2011

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Diagnosis and new treatments in genetic neuropathies

Journal of Neurology, Neurosurgery and Psychiatry, 2009-12, Vol.80 (12), p.1304-1314

2009

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

Brain research, 2020-02, Vol.1729, p.146625-146625, Article 146625

2020

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

Neurology, 2005-04, Vol.64 (7), p.1209

2005

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Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy

Neurology, 2012-05, Vol.78 (22), p.1714

2012

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

Neurology, 2008-01, Vol.70 (5), p.378

2008

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

Neurology, 2003-03, Vol.60 (6), p.898

2003

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CMT1X phenotypes represent loss of GJB1 gene function

Neurology, 2007-03, Vol.68 (11), p.849

2007

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

Neuromuscular disorders : NMD, 2010-12, Vol.20 (12), p.839-846

2010

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

Brain (London, England : 1878), 2000-07, Vol.123 (7), p.1516-1527

2000

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The integrated stress response contributes to tRNA synthetase-associated peripheral neuropathy

Science (American Association for the Advancement of Science), 2021-09, Vol.373 (6559), p.1156-1161

2021

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Phenotypic clustering in MPZ mutations

Brain (London, England : 1878), 2004-02, Vol.127 (2), p.371-384

2004

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

Brain (London, England : 1878), 2002-03, Vol.125 (Pt 3), p.551-561

2002

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

Neurology, 2006-10, Vol.67 (7), p.1141

2006

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Mutation update for myelin protein zero-related neuropathies and the increasing role of variants causing a late-onset phenotype

Journal of neurology, 2019-11, Vol.266 (11), p.2629-2645

2019

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MUNE and progression of CMT1A

European journal of neurology, 2010-08, Vol.17 (8), p.997-998

Shy, M. E.

2010

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

Brain (London, England : 1878), 2000-02, Vol.123 (2), p.222-233

2000

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

Neuromuscular disorders : NMD, 2008-08, Vol.18 (8), p.610-618

2008

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

Human molecular genetics, 2005-04, Vol.14 (8), p.1087-1094

2005

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

Journal of neuroscience research, 1996-03, Vol.43 (5), p.511-525

1996

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Chronic inflammatory demyelinating polyneuropathy associated with malignant melanoma

Neurology, 1996-03, Vol.46 (3), p.822

1996

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Mitogen-Expanded Schwann Cells Retain the Capacity to Myelinate Regenerating Axons After Transplantation Into Rat Sciatic Nerve

Proceedings of the National Academy of Sciences - PNAS, 1992-09, Vol.89 (18), p.8827-8831

1992

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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

2002

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

MFN2 mutations cause severe phenotypes in most patients with CMT2A

Diagnosis and new treatments in genetic neuropathies

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

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

Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy

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

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

CMT1X phenotypes represent loss of GJB1 gene function

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

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

The integrated stress response contributes to tRNA synthetase-associated peripheral neuropathy

Phenotypic clustering in MPZ mutations

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

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

Mutation update for myelin protein zero-related neuropathies and the increasing role of variants causing a late-onset phenotype

MUNE and progression of CMT1A

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

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

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

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

Chronic inflammatory demyelinating polyneuropathy associated with malignant melanoma

Mitogen-Expanded Schwann Cells Retain the Capacity to Myelinate Regenerating Axons After Transplantation Into Rat Sciatic Nerve

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

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