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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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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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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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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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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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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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MFN2 mutations cause severe phenotypes in most patients with CMT2A

Neurology, 2011-05, Vol.76 (20), p.1690-1696

2011

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

Neurology, 2005-04, Vol.64 (7), p.1209-1214

2005

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

Neurology, 2003-03, Vol.60 (6), p.898-904

2003

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

Neurology, 2008-01, Vol.70 (5), p.378-383

2008

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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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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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CMT1X phenotypes represent loss of GJB1 gene function

Neurology, 2007-03, Vol.68 (11), p.849-855

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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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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Charcot-Marie-Tooth neuropathies: diagnosis and management

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

2008

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

Brain (London, England : 1878), 2005-05, Vol.128 (5), p.1168-1177

2005

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

Annals of neurology, 2003-06, Vol.53 (6), p.703-710

2003

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

Annals of neurology, 2002-10, Vol.52 (4), p.429-434

2002

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

Human gene therapy, 2002-06, Vol.13 (9), p.1047-1059

2002

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

Human mutation, 2005-04, Vol.25 (4), p.372-383

2005

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

Neurology, 2005-09, Vol.65 (6), p.790-791

2005

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Phenotypic clustering in MPZ mutations

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

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

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

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

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

MFN2 mutations cause severe phenotypes in most patients with CMT2A

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

Peripheral neuropathies caused by mutations in the myelin protein zero

Charcot-Marie-Tooth disease: an update

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

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

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

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

CMT1X phenotypes represent loss of GJB1 gene function

Axonal Charcot-Marie-Tooth disease

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)

Charcot-Marie-Tooth neuropathies: diagnosis and management

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

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

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

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

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

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

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

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