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

Annals of neurology, 2006-02, Vol.59 (2), p.276-281

2006

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

Annals of neurology, 2002-02, Vol.51 (2), p.190-201

2002

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A Review of Genetic Counseling for Charcot Marie Tooth Disease (CMT)

Journal of genetic counseling, 2013-08, Vol.22 (4), p.422-436

2013

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

Journal of comparative neurology (1911), 2006-09, Vol.498 (2), p.252-265

2006

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

Annals of neurology, 2006-02, Vol.59 (2), p.358-364

2006

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

Nature genetics, 2020-05, Vol.52 (5), p.473-481

2020

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

Muscle & nerve, 2003-08, Vol.28 (2), p.161-167

2003

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eP225: Novel compound variants in IGHMBP2 associated with CMT

Genetics in medicine, 2022-03, Vol.24 (3), p.S140-S140

2022

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Genetic testing in neuromuscular disease

Neurologic Clinics, 2004-08, Vol.22 (3), p.481-508

2004

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Assessing non-Mendelian inheritance in inherited axonopathies

Genetics in medicine, 2020-12, Vol.22 (12), p.2114-2119

2020

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

Nature genetics, 2020-06, Vol.52 (6), p.640-640

2020

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Charcot-Marie-Tooth neuropathies: diagnosis and management

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

2008

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

Archives of neurology (Chicago), 2007-07, Vol.64 (7), p.974

2007

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

Muscle & nerve, 2004-02, Vol.29 (2), p.205-210

2004

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The Neurologist and Genetic Testing in a Neuromuscular Clinic

Journal of clinical neuromuscular disease, 2000-06, Vol.1 (4), p.172-174

2000

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

Annals of neurology, 2003-03, Vol.53 (3), p.354-365

2003

Volltextzugriff (PDF)

Mutations in PAPS1, 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

2007

Volltextzugriff (PDF)

Which tissue should be used to obtain a fetal karyotype after second trimester termination of pregnancy?

American journal of obstetrics and gynecology, 2004-12, Vol.191 (6), p.S46-S46

2004

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

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)

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

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

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

A Review of Genetic Counseling for Charcot Marie Tooth Disease (CMT)

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

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

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

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

eP225: Novel compound variants in IGHMBP2 associated with CMT

Genetic testing in neuromuscular disease

Assessing non-Mendelian inheritance in inherited axonopathies

Phenotypic clustering in MPZ mutations

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

Charcot-Marie-Tooth neuropathies: diagnosis and management

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

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

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

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

The Neurologist and Genetic Testing in a Neuromuscular Clinic

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

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

Mutations in PAPS1, Which Encodes the Phosphoribosyl Pyrophosphate Synthetase Enzyme Critical for Nucleotide Biosynthesis, Cause Hereditary Peripheral Neuropathy with Hearing Loss and Optic Neuropathy (CMTX5)

Which tissue should be used to obtain a fetal karyotype after second trimester termination of pregnancy?

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