Neuropathology of Charcot-Marie-Tooth and related disorders (Q36507137)

14 August 2017

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title

Neuropathology of Charcot-Marie-Tooth and related disorders (English)

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14 August 2017

J Michael Schröder

1

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14 August 2017

publication date

1 January 2006

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14 August 2017

published in

NeuroMolecular Medicine

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14 August 2017

volume

8

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14 August 2017

issue

1-2

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14 August 2017

page(s)

23-42

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Sensorimotor neuropathy in a patient with Marinesco-Sjögren syndrome.

14 August 2017

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Periaxin mutations cause recessive Dejerine-Sottas neuropathy

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Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2.

21 January 2018

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The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy

21 January 2018

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Congenital absence of peripheral myelin: abnormal Schwann cell development causes lethal arthrogryposis multiplex congenita

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Giant axon and neurofilament accumulation in Charcot-Marie-Tooth disease type 2E.

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Congenital demyelinating motor and sensory neuropathy with focally folded myelin sheaths

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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.

21 January 2018

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Genetic heterogeneity in autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths (CMT4B).

21 January 2018

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A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease

21 January 2018

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Congenital hypomyelination polyneuropathy. Pathological findings compared with polyneuropathies starting later in life

21 January 2018

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Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients

21 January 2018

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Charcot–Marie–Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene

21 January 2018

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De novo mutation of the myelin P0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III)

21 January 2018

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Peripheral neuropathy in Leigh's disease

21 January 2018

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Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease.

21 January 2018

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N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom

21 January 2018

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Hereditary motor and sensory neuropathy--Lom, a novel demyelinating neuropathy associated with deafness in gypsies. Clinical, electrophysiological and nerve biopsy findings

21 January 2018

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A case of congenital hypomyelination neuropathy. Clinical, morphological, and chemical studies

21 January 2018

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A clinical, electrophysiologic, neuropathologic, and genetic study of two large Algerian families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease

21 January 2018

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https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A23

Ultrastructural changes in peripheral nerve in hereditary motor and sensory neuropathy-Lom

21 January 2018

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https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A23

Peripheral neuropathy in Cockayne's syndrome

21 January 2018

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Molecular genetics and biology of inherited peripheral neuropathies: a fast-moving field

21 January 2018

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MNGIE: from nuclear DNA to mitochondrial DNA.

21 January 2018

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Partial depletion and multiple deletions of muscle mtDNA in familial MNGIE syndrome

21 January 2018

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Mitochondrial myopathies with necrotizing encephalopathy of the Leigh type.

21 January 2018

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21 January 2018

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Autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths: clinical, electrophysiologic, and genetic aspects of a large family.

21 January 2018

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Molecular specializations at nodes and paranodes in peripheral nerve

21 January 2018

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Connexin32-null mice develop demyelinating peripheral neuropathy

21 January 2018

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Altered ratio between axon diameter and myelin sheath thickness in regenerated nerve fibers

21 January 2018

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Neuropathy associated with mitochondrial disorders

21 January 2018

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Recommendations for the examination of peripheral nerve biopsies

21 January 2018

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21 January 2018

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Mitochondrial abnormalities in human sural nerves: fine structural evaluation of cases with mitochondrial myopathy, hereditary and non-hereditary neuropathies, and review of the literature

21 January 2018

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Changes of the ratio between myelin thickness and axon diameter in the human developing sural nerve

21 January 2018

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Subtotal aplasia of myelinated nerve fibers in the sural nerve.

21 January 2018

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Demyelinating sensorimotor neuropathy with congenital cataract, mental retardation, and unique, dysplastic perineurial cells within the endoneurium.

21 January 2018

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Peripheral nerve and skeletal muscle involvement in CADASIL.

21 January 2018

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X-linked dominant Charcot-Marie-Tooth disease: nerve biopsies allow morphological evaluation and detection of connexin32 mutations (Arg15Trp, Arg22Gln).

21 January 2018

1 reference

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Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy

21 January 2018

2 references

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A23

21 January 2018

12 December 2020

Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy

1 reference

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X-linked dominant Charcot-Marie-Tooth neuropathy: clinical, electrophysiological, and morphological phenotype in four families with different connexin32 mutations(1).

21 January 2018

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Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy

21 January 2018

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Amyloid neuropathy: immunocytochemical localization of intra- and extracellular immunoglobulin light chains

21 January 2018

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Occurrence and characterization of peripheral nerve involvement in neurofibromatosis type 2.

21 January 2018

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https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A23

Periaxin mutations cause a broad spectrum of demyelinating neuropathies.

21 January 2018

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PMP-22 gene duplications and deletions identified in archival, paraffin-embedded sural nerve biopsy specimens: correlation to structural changes

21 January 2018

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Hypertrophic perineurial dysplasia in multifocal and generalized peripheral neuropathies.

21 January 2018

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Tomaculous neuropathy in chromosome 1 Charcot-Marie-Tooth syndrome

21 January 2018

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The polyneuropathy of chronic renal failure

21 January 2018

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Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype

21 January 2018

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Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies

21 January 2018

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Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta

21 January 2018

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Neuropathy with lysosomal changes in Marinesco-Sjögren syndrome: fine structural findings in skeletal muscle and conjunctiva

21 January 2018

1 reference

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A novel nonsense mutation in the ABC1 gene causes a severe syringomyelia-like phenotype of Tangier disease

21 January 2018

1 reference

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Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A

21 January 2018

1 reference

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The novel neurofilament light (NEFL) mutation Glu397Lys is associated with a clinically and morphologically heterogeneous type of Charcot-Marie-Tooth neuropathy

21 January 2018

1 reference

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Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease

21 January 2018

1 reference

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Hereditary motor and sensory neuropathy – Lom (HMSNL): refined genetic mapping in Romani (Gypsy) families from several European countries

21 January 2018

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Hereditary motor and sensory neuropathy Lom type in an Italian Gypsy family

21 January 2018

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Giant axonal neuropathy: report on a case with focal fiber loss

21 January 2018

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Autosomal recessive hypermyelinating neuropathy

21 January 2018

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Autosomal recessive hereditary neuropathy with focally folded myelin sheaths and linked to chromosome 11q23: a distinct and homogeneous entity

21 January 2018

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Localization of a gene responsible for autosomal recessive demyelinating neuropathy with focally folded myelin sheaths to chromosome 11q23 by homozygosity mapping and haplotype sharing

21 January 2018

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Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a)

21 January 2018

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Paranodal structure in diabetic sensory polyneuropathy

21 January 2018

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Hereditary motor and sensory neuropathy with absence of large myelinated fibers due to absence of large neurons in dorsal root ganglia and anterior horns, clinically associated with deafness, mental retardation, and epilepsy (HMSN-ADM).

21 January 2018

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12 December 2020

Autosomal recessive motor and sensory neuropathy with excessive myelin outfolding

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12 December 2020

2nd Workshop of the European CMT Consortium: 53rd ENMC International Workshop on Classification and Diagnostic Guidelines for Charcot-Marie-Tooth Type 2 (CMT2-HMSN II) and Distal Hereditary Motor Neuropathy (distal HMN-Spinal CMT) 26-28 September 19

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12 December 2020

Identification of the characteristic vascular changes in a sural nerve biopsy of a case with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)

1 reference

12 December 2020

Clinical and pathological phenotype of the original family with Charcot-Marie-Tooth type 1B: a 20-year study

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12 December 2020

Mitochondrial changes in muscle phosphoglycerate kinase deficiency

1 reference

12 December 2020

Developmental and pathological changes at the node and paranode in human sural nerves.

1 reference

12 December 2020

Taxol-induced neuropathy: chronic effects of local injection

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12 December 2020

Expression of Po protein in sural nerve of a patient with hereditary motor and sensory neuropathy type III

1 reference

12 December 2020

Charcot-Marie-Tooth disease: histopathological features of the peripheral myelin protein (PMP22) duplication (CMT1A) and connexin32 mutations (CMTX1)

1 reference

12 December 2020

Hereditary motor and sensory neuropathy with deafness, mental retardation, and absence of sensory large myelinated fibers: confirmation of a new entity.

1 reference

12 December 2020

Congenital hypomyelination neuropathy with Ser72Leu substitution in PMP22

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12 December 2020

A case of neonatal peripheral polyneuritis due to demyelination

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12 December 2020

Polyglucosan bodies in sural nerve biopsies

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12 December 2020

Hereditary sensory neuropathy with neurotrophic keratitis. Description of an autosomal recessive disorder with a selective reduction of small myelinated nerve fibres and a discussion of the classification of the hereditary sensory neuropathies

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12 December 2020

[Presence of crystalline inclusions in Schwann cells in several peripheral neuropathies]

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12 December 2020

A novel homozygous mutation of the myelin Po gene producing Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III)

1 reference

12 December 2020

Hereditary motor and sensory neuropathy with optic atrophy. Ultrastructural and morphometric observations on nerve fibers, mitochondria, and dense-cored vesicles

1 reference

12 December 2020

Significance of degenerating endoneurial cells in peripheral neuropathy

1 reference

12 December 2020

Hereditary motor and sensory neuropathy-Lom (HMSNL) in a Spanish family: clinical, electrophysiological, pathological and genetic studies

1 reference

12 December 2020

Charcot-Marie-Tooth disease and related peripheral neuropathies

1 reference

12 December 2020

Charcot-Marie-Tooth disease with intermediate motor nerve conduction velocities: characterization of 14 Cx32 mutations in 35 families.

1 reference

12 December 2020

Peripheral neuropathy associated with polycythemia Vera

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12 December 2020

Giant axonal neuropathy--a unique case with segmental neurofilamentous masses

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12 December 2020

Neuroaxonal dystrophy in infantile alpha-N-acetylgalactosaminidase deficiency

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12 December 2020

Congenital hypo- and hypermyelination neuropathy. Two cases

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12 December 2020

Juvenile hereditary polyglucosan body disease with complete branching enzyme deficiency (type IV glycogenosis)

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12 December 2020

Tomaculous neuropathy in chromosome 1 Charcot-Marie-Tooth syndrome

1 reference

12 December 2020

Granular nuclear inclusion body disease: fine structure of tibial muscle and sural nerve

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12 December 2020

Phase and electron microscopic studies of experimental demyelination. II. Schwann cell changes in guinea pig sciatic nerves during experimental diphtheritic neuritis

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12 December 2020

Myo-, neuro-, gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome-c-oxidase. A new mitochondrial multisystem disorder

1 reference

12 December 2020

Of giant axons and curly hair

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12 December 2020

Myopathy with unique ultrastructural feature in Marinesco-Sjögren syndrome

1 reference

12 December 2020

Charcot-Marie-Tooth neuropathy type 2 and P0 point mutations: two novel amino acid substitutions (Asp61Gly; Tyr119Cys) and a possible "hotspot" on Thr124Met

1 reference

12 December 2020

Primary segmental demyelination in the sural nerve in Cockayne's syndrome

1 reference

12 December 2020

[Peripheral neurogenic amyotrophy in the Marinesco-Sjögren syndrome]

1 reference

12 December 2020

Immunohistochemical identification and cross reactions of amyloid fibril proteins in senile heart and amyloid in familial polyneuropathy. Lack of reactivity with cerebral amyloid in Alzheimer's disease

1 reference

12 December 2020

The Role of Schwann Cells in the Formation of “Onion Bulbs” Found in Chronic Neuropathies***†

1 reference

12 December 2020

[Supernumerary schwann cells during remyelination of regenerated and segmentally demyelinated axons in peripheral nerves]

1 reference

12 December 2020

Progressive sensory-motor polyneuropathy with tomaculous changes is associated to 17p11.2 deletion

1 reference

12 December 2020

Segmental demyelination secondary to axonal degeneration in uremic neuropathy

1 reference

12 December 2020

DNA duplication associated with Charcot-Marie-Tooth disease type 1A

1 reference

12 December 2020

Optico-cochleo-dentate degeneration associated with severe peripheral neuropathy and caused by peroxisomal D-bifunctional protein deficiency

1 reference

12 December 2020

DNA deletion associated with hereditary neuropathy with liability to pressure palsies

1 reference

12 December 2020

Novel missense mutations in the glycogen-branching enzyme gene in adult polyglucosan body disease

1 reference

12 December 2020

Ultrastructural study of a peripheral nerve biopsy in Refsum's disease

1 reference

12 December 2020

Tomaculous neuropathy in Charcot-Marie-Tooth disease with myelin protein zero gene mutation

1 reference

12 December 2020

Pathological findings in the x-linked form of Charcot-Marie-Tooth disease: a morphometric and ultrastructural analysis

1 reference

12 December 2020

Elevated expression of messenger RNA for peripheral myelin protein 22 in biopsied peripheral nerves of patients with Charcot-Marie-Tooth disease type 1A

1 reference

12 December 2020

Changes of the ratio between myelin thickness and axon diameter in human developing sural, femoral, ulnar, facial, and trochlear nerves

1 reference

12 December 2020

Histopathological features of X-linked Charcot-Marie-Tooth disease in 8 patients from 6 families with different connexin32 mutations

1 reference

12 December 2020

Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination

1 reference

12 December 2020

[Fine structural morphometric evidence of anabolic disturbances of myelination in peripheral nerves]

1 reference

12 December 2020

Mitochondrial cytochrome b gene deletion in Kearns-Sayre syndrome associated with a subclinical type of peripheral neuropathy

1 reference

12 December 2020

Perineurial cell hyperplasia in early-onset polyneuropathy with multiple cranial neuropathies

1 reference

12 December 2020

Myopathy in Marinesco-Sjögren syndrome: an ultrastructural study

1 reference

12 December 2020

Sensory-motor chronic neuropathy in two siblings: atypical presentation of tomaculous neuropathy.

1 reference

12 December 2020

Severe polyneuropathy in Tangier disease mimicking syringomyelia or leprosy. Clinical, biochemical, electrophysiological, and morphological evaluation, including electron microscopy of nerve, muscle, and skin biopsies

1 reference

12 December 2020

Homologous nerve transplantation. Morphological results

1 reference

12 December 2020

Uncompacted lamellae as a feature of tomaculous neuropathy

1 reference

12 December 2020

Ultrastructure of experimental allergic neuritis in the rabbit

1 reference

12 December 2020

Identifiers

DOI

10.1385/NMM:8:1-2:23

1 reference

Dimensions Publication ID

14 August 2017

1009801770

0 references

1 reference