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Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations

Neurology, 2006-08, Vol.67 (4), p.602

2006

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Phenotype of Charcot-Marie-Tooth disease Type 2

Neurology, 2007-05, Vol.68 (20), p.1658

2007

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Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy

Neurology, 2002-12, Vol.59 (12), p.1865

2002

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Complex regional pain syndrome type I (RSD): pathology of skeletal muscle and peripheral nerve

Neurology, 1998-07, Vol.51 (1), p.20

1998

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Histology of hereditary neuralgic amyotrophy

Journal of neurology, neurosurgery and psychiatry, 2005-03, Vol.76 (3), p.445-447

2005

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Transient cerebral white matter lesions in a patient with connexin 32 missense mutation

Neurology, 2002-12, Vol.59 (12), p.2007

2002

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Overloaded Endoplasmic Reticulum-Golgi Compartments, a Possible Pathomechanism of Peripheral Neuropathies Caused by Mutations of the Peripheral Myelin Protein PMP22

The Journal of neuroscience, 1998-01, Vol.18 (2), p.731-740

1998

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Recurrent neuropathy associated with Ehlers-Danlos syndrome

Journal of neurology, 2006-05, Vol.253 (5), p.670-671

2006

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Severe Dejerine-Sottas disease with respiratory failure and dysmorphic features in association with a PMP22 point mutation and a 3q23 microdeletion

Journal of the peripheral nervous system, 2012-06, Vol.17 (2), p.223-225

2012

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Mutation-dependent alteration in cellular distribution of peripheral myelin protein 22 in nerve biopsies from Charcot–Marie–Tooth type 1A

Brain (London, England : 1878), 2000-05, Vol.123 (5), p.1001-1006

2000

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Macrophage clustering as a diagnostic marker in sural nerve biopsies of patients with CIDP

Neurology, 2005-12, Vol.65 (12), p.1924

2005

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Late onset axonal Charcot-Marie-Tooth phenotype caused by a novel myelin protein zero mutation

Journal of neurology, neurosurgery and psychiatry, 2006-04, Vol.77 (4), p.534-537

2006

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Study on the gene and phenotypic characterisation of autosomal recessive demyelinating motor and sensory neuropathy (Charcot-Marie-Tooth disease) with a gene locus on chromosome 5q23-q33

Journal of neurology, neurosurgery and psychiatry, 1999-05, Vol.66 (5), p.569-574

1999

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Hereditary neuropathy with liability to pressure palsies : Phenotypic differences between patients with the common deletion and a pmp22 frame shift mutation

Brain (London, England : 1878), 1998-08, Vol.121 (8), p.1451-1458

1998

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Two divergent types of nerve pathology in patients with different P0 mutations in Charcot-Marie-Tooth disease

Neurology, 1996-09, Vol.47 (3), p.761

1996

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Mononeuropathy multiplex as the initial manifestation of neurofibromatosis type 2

Neurology, 2001-06, Vol.56 (12), p.1766

2001

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Sensorineural hearing impairment in patients with Pmp22 duplication, deletion, and frameshift mutations

Otology & neurotology, 2005-05, Vol.26 (3), p.405

2005

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Schwann cell differentiation in Charcot-Marie-Tooth disease type 1A (CMT1A) : normal number of myelinating Schwann cells in young CMT1A patients and neural cell adhesion molecule expression in onion bulbs

Acta neuropathologica, 1997-10, Vol.94 (4), p.310-315

1997

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Intermediate CAG repeat lengths (53,54) for MJD/SCA3 are associated with an abnormal phenotype

Annals of neurology, 2001-06, Vol.49 (6), p.805-808

2001

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Charcot-Marie-Tooth disease type 1A : morphological phenotype of the 17p duplication versus PMP22 point mutations

Acta neuropathologica, 1995-12, Vol.90 (6), p.645-649

1995

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De-novo mutation in hereditary motor and sensory neuropathy type I

The Lancet (British edition), 1992-05, Vol.339 (8801), p.1081-1082

1992

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Prevalence of the 1.5-Mb 17p deletion in families with hereditary neuropathy with liability to pressure palsies

Annals of neurology, 1994-10, Vol.36 (4), p.650-655

1994

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Mitochondrial cytopathy presenting as hereditary sensory neuropathy with progressive external ophthalmoplegia, ataxia and fatal myoclonic epileptic status

Brain (London, England : 1878), 1996-06, Vol.119 (3), p.997-1010

1996

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Cerebrotendinous xanthomatosis: Controversies about nerve and muscle: observations in ten patients

Neuromuscular disorders : NMD, 2000-08, Vol.10 (6), p.407-414

2000

Volltextzugriff (PDF)

Chronic inflammatory demyelinating polyneuropathy as a complication of cat scratch disease

Journal of neurology, neurosurgery and psychiatry, 2000-06, Vol.68 (6), p.797-798

2000

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Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations

Phenotype of Charcot-Marie-Tooth disease Type 2

Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy

Complex regional pain syndrome type I (RSD): pathology of skeletal muscle and peripheral nerve

Histology of hereditary neuralgic amyotrophy

Transient cerebral white matter lesions in a patient with connexin 32 missense mutation

Overloaded Endoplasmic Reticulum-Golgi Compartments, a Possible Pathomechanism of Peripheral Neuropathies Caused by Mutations of the Peripheral Myelin Protein PMP22

Recurrent neuropathy associated with Ehlers-Danlos syndrome

Severe Dejerine-Sottas disease with respiratory failure and dysmorphic features in association with a PMP22 point mutation and a 3q23 microdeletion

Mutation-dependent alteration in cellular distribution of peripheral myelin protein 22 in nerve biopsies from Charcot–Marie–Tooth type 1A

Macrophage clustering as a diagnostic marker in sural nerve biopsies of patients with CIDP

Late onset axonal Charcot-Marie-Tooth phenotype caused by a novel myelin protein zero mutation

Study on the gene and phenotypic characterisation of autosomal recessive demyelinating motor and sensory neuropathy (Charcot-Marie-Tooth disease) with a gene locus on chromosome 5q23-q33

Hereditary neuropathy with liability to pressure palsies : Phenotypic differences between patients with the common deletion and a pmp22 frame shift mutation

Two divergent types of nerve pathology in patients with different P0 mutations in Charcot-Marie-Tooth disease

Mononeuropathy multiplex as the initial manifestation of neurofibromatosis type 2

Sensorineural hearing impairment in patients with Pmp22 duplication, deletion, and frameshift mutations

Schwann cell differentiation in Charcot-Marie-Tooth disease type 1A (CMT1A) : normal number of myelinating Schwann cells in young CMT1A patients and neural cell adhesion molecule expression in onion bulbs

Intermediate CAG repeat lengths (53,54) for MJD/SCA3 are associated with an abnormal phenotype

Charcot-Marie-Tooth disease type 1A : morphological phenotype of the 17p duplication versus PMP22 point mutations

De-novo mutation in hereditary motor and sensory neuropathy type I

Prevalence of the 1.5-Mb 17p deletion in families with hereditary neuropathy with liability to pressure palsies

Mitochondrial cytopathy presenting as hereditary sensory neuropathy with progressive external ophthalmoplegia, ataxia and fatal myoclonic epileptic status

Cerebrotendinous xanthomatosis: Controversies about nerve and muscle: observations in ten patients

Chronic inflammatory demyelinating polyneuropathy as a complication of cat scratch disease

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