Molecular basis of common hereditary motor and sensory neuropathies in humans and in mouse models (Q46206788)

20 December 2017

title

Molecular basis of common hereditary motor and sensory neuropathies in humans and in mouse models (English)

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20 December 2017

author name string

Snipes GJ

series ordinal

1

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20 December 2017

Suter U

series ordinal

2

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20 December 2017

publication date

1 July 1995

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20 December 2017

published in

Brain Pathology

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20 December 2017

volume

5

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20 December 2017

issue

3

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20 December 2017

page(s)

233-247

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20 December 2017

Abnormal myelination in transplanted Trembler mouse Schwann cells

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Hereditary neuropathy with liability to pressure palsies. Electrophysiological and histopathological aspects

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Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q.

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Connexin mutations in X-linked Charcot-Marie-Tooth disease

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Null mutations of connexin32 in patients with X-linked Charcot-Marie-Tooth disease

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The Epitope(s) Recognized by HNK-1 Antibody and IgM Paraprotein in Neuropathy Is Present on Several N-Linked Oligosaccharide Structures on Human P0and Myelin-Associated Glycoprotein

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Trisomy 17p associated with Charcot-Marie-Tooth neuropathy type 1A phenotype: evidence for gene dosage as a mechanism in CMT1A

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Specific permeability and selective formation of gap junction channels in connexin-transfected HeLa cells

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The role of complex carbohydrates in adhesion of the myelin protein, P0

21 January 2018

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Homophilic adhesion of the myelin P0 protein requires glycosylation of both molecules in the homophilic pair

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Role of myelin Po protein as a homophilic adhesion molecule

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Hereditary motor and sensory neuropathy of neuronal type with onset in early childhood

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Mouse P0 gene disruption leads to hypomyelination, abnormal expression of recognition molecules, and degeneration of myelin and axons.

21 January 2018

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Coexistence of hereditary motor and sensory neuropathy type Ia and IgM paraproteinemic neuropathy

21 January 2018

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X-linked dominant hereditary motor and sensory neuropathy

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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Mutation of the Myelin Po Gene in Charcot-Marie-Tooth Neuropathy Type 1

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Mutation of the myelin Po gene in Charcot — Marie — Tooth neuropathy type 1B

21 January 2018

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Distribution of P0 protein and the myelin-associated glycoprotein in peripheral nerves from Trembler mice

21 January 2018

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The KROX-20 transcription factor in the rat central and peripheral nervous systems: novel expression pattern of an immediate early gene-encoded protein

21 January 2018

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

21 January 2018

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Charcot-Marie-Tooth neuropathies: from clinical description to molecular genetics

21 January 2018

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Deletion of the serine 34 codon from the major peripheral myelin protein P0 gene in Charcot-Marie-Tooth disease type 1B

21 January 2018

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The L2/HNK-1 carbohydrate of neural cell adhesion molecules is involved in cell interactions

21 January 2018

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Two forms of 1B236/myelin-associated glycoprotein, a cell adhesion molecule for postnatal neural development, are produced by alternative splicing

21 January 2018

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Zeta-crystallin: a lens-specific promoter and the gene recruitment of an enzyme as a crystallin

21 January 2018

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Unwrapping the genes of myelin

21 January 2018

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Isolation and sequence of a cDNA encoding the major structural protein of peripheral myelin

21 January 2018

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21 January 2018

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Myelination in the absence of myelin-associated glycoprotein

21 January 2018

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Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A

21 January 2018

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Expression and functional roles of neural cell surface molecules and extracellular matrix components during development and regeneration of peripheral nerves

21 January 2018

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Peripheral myelin protein-22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot-Marie-Tooth 1A.

21 January 2018

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Identification of myelin-associated glycoprotein as a major myelin-derived inhibitor of neurite growth

21 January 2018

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Dynamic aspects of peripheral nerve changes in progressive neural muscular atrophy: light- and electronmicroscopic studies of serial nerve biopsies

21 January 2018

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Hereditary neuropathy with liability to pressure palsies. Report of two families and review of the literature

21 January 2018

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P0 promoter directs expression of reporter and toxin genes to Schwann cells of transgenic mice.

21 January 2018

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Mice deficient for the myelin-associated glycoprotein show subtle abnormalities in myelin.

21 January 2018

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Rapid screening of myelin genes in CMT1 patients by SSCP analysis: identification of new mutations and polymorphisms in the P0 gene

21 January 2018

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Schwann cells infected with a recombinant retrovirus expressing myelin-associated glycoprotein antisense RNA do not form myelin

21 January 2018

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The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A

21 January 2018

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The myelin-associated glycoproteins: membrane disposition, evidence of a novel disulfide linkage between immunoglobulin-like domains, and posttranslational palmitylation.

21 January 2018

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A connexin-32 mutation associated with Charcot-Marie-Tooth disease does not affect channel formation in oocytes

21 January 2018

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Identification of a de novo insertional mutation in P0 in a patient with a Déjérine-Sottas syndrome (DSS) phenotype

21 January 2018

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Cardiac malformation in neonatal mice lacking connexin43.

21 January 2018

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Clinical spectrum of the tomaculous neuropathies. Report of 60 cases and review of the literature

21 January 2018

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Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene

21 January 2018

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Longitudinal conduction studies in hereditary motor and sensory neuropathy type 1.

21 January 2018

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Genes specifically expressed at growth arrest of mammalian cells

21 January 2018

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Disruption of Krox-20 results in alteration of rhombomeres 3 and 5 in the developing hindbrain

21 January 2018

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Recombinant peripheral myelin protein Po confers both adhesion and neurite outgrowth-promoting properties

21 January 2018

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Signaling pathways mediating axon--Schwann cell interactions

21 January 2018

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Characterization of a novel peripheral nervous system myelin protein (PMP-22/SR13)

21 January 2018

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X-linked dominant Charcot-Marie-Tooth disease and other potential gap-junction diseases of the nervous system

21 January 2018

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Expression of recombinant homo-oligomeric 5-hydroxytryptamine3 receptors provides new insights into their maturation and structure

21 January 2018

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Myelin protein zero gene mutated in Charcot-Marie-tooth type 1B patients

21 January 2018

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A leucine-to-proline mutation in the putative first transmembrane domain of the 22-kDa peripheral myelin protein in the trembler-J mouse

21 January 2018

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Peripheral myelin protein 22: facts and hypotheses

21 January 2018

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Trembler mouse carries a point mutation in a myelin gene

21 January 2018

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Tomaculous neuropathy in chromosome 1 Charcot-Marie-Tooth syndrome

21 January 2018

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Krox-20 controls myelination in the peripheral nervous system

21 January 2018

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Immunocytochemical localization of the myelin-associated glycoprotein Fact or Artifact?

21 January 2018

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Initial events of myelination involve Fyn tyrosine kinase signalling

21 January 2018

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Charcot-Marie-tooth disease 1A (CMT1A) associated with a maternal duplication of chromosome 17p11.2-->12.

21 January 2018

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A myelin protein is encoded by the homologue of a growth arrest-specific gene

21 January 2018

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Lens crystallins: gene recruitment and evolutionary dynamism

21 January 2018

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The cytoplasmic domain of the myelin P0 protein influences the adhesive interactions of its extracellular domain

21 January 2018

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Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A

21 January 2018

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Charcot-Marie-Tooth Disease Type 1A -- Association with a Spontaneous Point Mutation in the PMP22 Gene

21 January 2018

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Localization of a Gene (CMT2A) for Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 to Chromosome 1p and Evidence of Genetic Heterogeneity

21 January 2018

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Linkage of Charcot-Marie-Tooth neuropathy type 1a to chromosome 17

21 January 2018

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

21 January 2018

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A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies

21 January 2018

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Origin of the de novo duplication in Charcot — Marie — Tooth disease type 1A: unequal nonsister chromatid exchange during spermatogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1995.TB00600.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1995.TB00600.X

Point mutations of the connexin32 (GJB1) gene in X-linked dominant Charcot — Marie — Tooth neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1995.TB00600.X

Recognition of myelin-associated glycoprotein by the monoclonal antibody HNK-1

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1995.TB00600.X

10.1111/J.1750-3639.1995.TB00600.X

21 January 2018

Identifiers

DOI

1 reference

20 December 2017

1 reference

20 December 2017