A mouse model of Schwartz-Jampel syndrome reveals myelinating Schwann cell dysfunction with persistent axonal depolarization in vitro and distal peripheral nerve hyperexcitability when perlecan is lacking. (Q47162776)

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scientific article published on 23 March 2012

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English	A mouse model of Schwartz-Jampel syndrome reveals myelinating Schwann cell dysfunction with persistent axonal depolarization in vitro and distal peripheral nerve hyperexcitability when perlecan is lacking.	scientific article published on 23 March 2012

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27 January 2020

A mouse model of Schwartz-Jampel syndrome reveals myelinating Schwann cell dysfunction with persistent axonal depolarization in vitro and distal peripheral nerve hyperexcitability when perlecan is lacking (English)

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27 January 2020

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Jérôme Devaux

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Marie Bangratz

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Nadège Sarrazin

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Désirée Zambroni

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Andoni Echaniz-Laguna

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Frédérique René

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Delphine Boërio

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Claire-Sophie Davoine

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Bertrand Fontaine

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Maria Laura Feltri

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Evelyne Benoit

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23 March 2012

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The American Journal of Pathology

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Function and mechanism of axonal targeting of voltage-sensitive potassium channels

1 reference

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The C-terminal domain of ßIV-spectrin is crucial for KCNQ2 aggregation and excitability at nodes of Ranvier.

1 reference

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Deficiency of electroneutral K+-Cl- cotransporter 3 causes a disruption in impulse propagation along peripheral nerves

1 reference

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Bral1: its role in diffusion barrier formation and conduction velocity in the CNS

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23 May 2018

SH3TC2/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system

1 reference

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23 May 2018

Developmental and pathogenic mechanisms of basement membrane assembly

1 reference

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23 May 2018

A laminin-2, dystroglycan, utrophin axis is required for compartmentalization and elongation of myelin segments

1 reference

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23 May 2018

Diverse cell signaling events modulated by perlecan.

1 reference

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23 May 2018

Negative regulation of myelination: relevance for development, injury, and demyelinating disease

1 reference

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23 May 2018

Molecular domains of myelinated axons in the peripheral nervous system

1 reference

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23 May 2018

P0 protein is required for and can induce formation of schmidt-lantermann incisures in myelin internodes

1 reference

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Primary episodic ataxias: diagnosis, pathogenesis and treatment

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23 May 2018

Distinct target-derived signals organize formation, maturation, and maintenance of motor nerve terminals

1 reference

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23 May 2018

The structural and functional integrity of peripheral nerves depends on the glial-derived signal desert hedgehog.

1 reference

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23 May 2018

Both laminin and Schwann cell dystroglycan are necessary for proper clustering of sodium channels at nodes of Ranvier.

1 reference

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23 May 2018

Mechanisms of axon ensheathment and myelin growth

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23 May 2018

Restricted growth of Schwann cells lacking Cajal bands slows conduction in myelinated nerves.

1 reference

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23 May 2018

The local differentiation of myelinated axons at nodes of Ranvier

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5691331

23 May 2018

Association of TAG-1 with Caspr2 is essential for the molecular organization of juxtaparanodal regions of myelinated fibers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5691331

23 May 2018

Juxtaparanodal clustering of Shaker-like K+ channels in myelinated axons depends on Caspr2 and TAG-1

1 reference

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23 May 2018

Unique role of dystroglycan in peripheral nerve myelination, nodal structure, and sodium channel stabilization

1 reference

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23 May 2018

Electrophysiology of mammalian Schwann cells

1 reference

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23 May 2018

Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5691331

23 May 2018

Absence of acetylcholinesterase at the neuromuscular junctions of perlecan-null mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5691331

23 May 2018

Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K+ channel

1 reference

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23 May 2018

Immunolocalization of the Na(+)-K(+)-2Cl(-) cotransporter in peripheral nervous tissue of vertebrates

1 reference

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23 May 2018

Perlecan maintains the integrity of cartilage and some basement membranes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5691331

23 May 2018

Perlecan is essential for cartilage and cephalic development

1 reference

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23 May 2018

Temperature-sensitive neuromuscular transmission in Kv1.1 null mice: role of potassium channels under the myelin sheath in young nerves

1 reference

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23 May 2018

Agrin can mediate acetylcholine receptor gene expression in muscle by aggregation of muscle-derived neuregulins

1 reference

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23 May 2018

Threshold tracking techniques in the study of human peripheral nerve

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23 May 2018

Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1

1 reference

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23 May 2018

Molecular dissection of the myelinated axon

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23 May 2018

Continuous muscle fiber activity in the Schwartz-Jampel syndrome.

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23 May 2018

Electrophysiological studies in a mouse model of Schwartz-Jampel syndrome demonstrate muscle fiber hyperactivity of peripheral nerve origin.

1 reference

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Excitability properties of motor axons in the maturing mouse

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Disruption of neurofascin and gliomedin at nodes of Ranvier precedes demyelination in experimental allergic neuritis.

1 reference

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Remodeling of motor nerve terminals in demyelinating axons of periaxin-null mice.

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15 August 2018

Peripheral nerve hyperexcitability due to dominant-negative KCNQ2 mutations

1 reference

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15 August 2018

Nodal protrusions, increased Schmidt-Lanterman incisures, and paranodal disorganization are characteristic features of sulfatide-deficient peripheral nerves.

1 reference

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15 August 2018

KCNQ channels mediate IKs, a slow K+ current regulating excitability in the rat node of Ranvier

1 reference

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15 August 2018

Gliomedin mediates Schwann cell-axon interaction and the molecular assembly of the nodes of Ranvier.

1 reference

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Dysmyelinated lower motor neurons retract and regenerate dysfunctional synaptic terminals.

1 reference

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15 August 2018

KCNQ2 is a nodal K+ channel.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5691331

15 August 2018

Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia).

1 reference

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15 August 2018

Latent addition in motor and sensory fibres of human peripheral nerve

1 reference

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15 August 2018

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1 reference

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15 August 2018

Tumor Suppressor Schwannomin/Merlin Is Critical for the Organization of Schwann Cell Contacts in Peripheral Nerves

1 reference

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1 December 2018

Spectrum ofHSPG2(Perlecan) mutations in patients with Schwartz-Jampel syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5691331

1 December 2018

Differential conduction block in branches of a bifurcating axon

1 reference

https://pubmed.ncbi.nlm.nih.gov/22449950

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Determinants of excitability at transition zones in Kv1.1-deficient myelinated nerves

1 reference

https://pubmed.ncbi.nlm.nih.gov/22449950

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Studies on the "incisures" of Schmidt and Lanterman

1 reference

https://pubmed.ncbi.nlm.nih.gov/22449950

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Evidence of a dosage effect and a physiological endplate acetylcholinesterase deficiency in the first mouse models mimicking Schwartz–Jampel syndrome neuromyotonia

1 reference

https://pubmed.ncbi.nlm.nih.gov/22449950

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Chondrodystrophic myotonia: report of two cases. Myotonia, dwarfism, diffuse bone disease, and unusual ocular and facial abnormalities

1 reference

https://pubmed.ncbi.nlm.nih.gov/22449950

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Determinants of conduction velocity in myelinated nerve fibers

1 reference

https://pubmed.ncbi.nlm.nih.gov/22449950

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Activity of hindlimb motor units during locomotion in the conscious rat

1 reference

https://pubmed.ncbi.nlm.nih.gov/22449950

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Potassium channels in nodal and internodal axonal membrane of mammalian myelinated fibres

1 reference

https://pubmed.ncbi.nlm.nih.gov/22449950

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/J.AJPATH.2012.01.035

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27 January 2020

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27 January 2020

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27 January 2020

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