(Q30538247)

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Motor and sensory neuropathy due to myelin infolding and paranodal damage in a transgenic mouse model of Charcot-Marie-Tooth disease type 1C.

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Motor and sensory neuropathy due to myelin infolding and paranodal damage in a transgenic mouse model of Charcot-Marie-Tooth disease type 1C. (English)

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

object named as

Lih-Shen Chin

6

0 references

object named as

Lian Li

7

0 references

author name string

Samuel M Lee

1

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Di Sha

2

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Anum A Mohammed

3

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Seneshaw Asress

4

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Jonathan D Glass

5

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

publication date

28 January 2013

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Human Molecular Genetics

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

22

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

9

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

1755-1770

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

describes a project that uses

1 reference

Europe PubMed Central

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3613163/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

Charcot-Marie-Tooth disease-linked protein SIMPLE functions with the ESCRT machinery in endosomal trafficking

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3613163

20 June 2018

Genetic disruption of Pten in a novel mouse model of tomaculous neuropathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3613163

20 June 2018

Protein misfolding and clearance in demyelinating peripheral neuropathies: Therapeutic implications

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3613163

20 June 2018

A novel MPZ mutation in Charcot-Marie-Tooth disease type 1B with focally folded myelin and multiple entrapment neuropathies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3613163

20 June 2018

Mutations associated with Charcot-Marie-Tooth disease cause SIMPLE protein mislocalization and degradation by the proteasome and aggresome-autophagy pathways

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3613163

20 June 2018

ESCRT proteins and cell signalling

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3613163

20 June 2018

Update on Charcot-Marie-Tooth disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3613163

20 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3613163

20 June 2018

Diagnosis, natural history, and management of Charcot–Marie–Tooth disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3613163

20 June 2018

Molecular mechanisms of inherited demyelinating neuropathies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3613163

20 June 2018

Loss of the inactive myotubularin-related phosphatase Mtmr13 leads to a Charcot-Marie-Tooth 4B2-like peripheral neuropathy in mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3613163

20 June 2018

Mechanisms of disease: inherited demyelinating neuropathies--from basic to clinical research

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3613163

20 June 2018

Easy and rapid method of zygosity determination in transgenic mice by SYBR Green real-time quantitative PCR with a simple data analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3613163

20 June 2018

Schwann cells and the pathogenesis of inherited motor and sensory neuropathies (Charcot-Marie-Tooth disease).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3613163

20 June 2018

SIMPLE mutation analysis in dominant demyelinating Charcot-Marie-Tooth disease: three novel mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3613163

20 June 2018

An animal model for Charcot-Marie-Tooth disease type 4B1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3613163

20 June 2018

Loss of Mtmr2 phosphatase in Schwann cells but not in motor neurons causes Charcot-Marie-Tooth type 4B1 neuropathy with myelin outfoldings.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3613163

20 June 2018

A new method of selecting Schwann cells from adult mouse sciatic nerve

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3613163

20 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3613163

20 June 2018

Disruption of Mtmr2 produces CMT4B1-like neuropathy with myelin outfolding and impaired spermatogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3613163

20 June 2018

SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3613163

20 June 2018

Disease mechanisms in inherited neuropathies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3613163

20 June 2018

Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3613163

20 June 2018

Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3613163

20 June 2018

Mycobacterium bovis Bacillus Calmette-Guerin and its cell wall complex induce a novel lysosomal membrane protein, SIMPLE, that bridges the missing link between lipopolysaccharide and p53-inducible gene, LITAF(PIG7), and estrogen-inducible gene, EET-1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3613163

20 June 2018

Hrs interacts with sorting nexin 1 and regulates degradation of epidermal growth factor receptor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3613163

20 June 2018

Clinical syndromes associated with tomacula or myelin swellings in sural nerve biopsies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3613163

20 June 2018

Hereditary motor and sensory neuropathy caused by a novel mutation in LITAF.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT022

21 January 2018

Reversal of neuropathy phenotypes in conditional mouse model of Charcot-Marie-Tooth disease type 2E.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT022

21 January 2018

Sensorimotor and cognitive function of a NEFL(P22S) mutant model of Charcot-Marie-Tooth disease type 2E.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT022

21 January 2018

Neuromuscular function after muscle fatigue in Charcot-Marie-Tooth type 1A patients

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT022

21 January 2018

LITAF (SIMPLE) regulates Wallerian degeneration after injury but is not essential for peripheral nerve development and maintenance: implications for Charcot-Marie-Tooth disease

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT022

21 January 2018

Focally folded myelin in Charcot-Marie-Tooth type 1B disease is associated with Asn131Lys mutation in myelin protein zero gene: short report.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT022

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT022

21 January 2018

Early paranodal myelin swellings (tomacula) in an avian riboflavin deficiency model of demyelinating neuropathy

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT022

21 January 2018

Rapid zygosity determination in mice by SYBR Green real-time genomic PCR of a crude DNA solution.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT022

21 January 2018

Human and rat adult Schwann cell cultures: fast and efficient enrichment and highly effective non-viral transfection protocol

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT022

21 January 2018

Preserved myelin integrity and reduced axonopathy in connexin32-deficient mice lacking the recombination activating gene-1.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT022

21 January 2018

Different Intracellular Pathomechanisms Produce Diverse Myelin Protein Zero Neuropathies in Transgenic Mice

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT022

21 January 2018

Myelin and Axon Pathology in a Long-Term Study ofPMP22-Overexpressing Mice

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT022

21 January 2018

Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3613163

26 November 2018

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/23359569

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ndrg1 in development and maintenance of the myelin sheath

1 reference

https://pubmed.ncbi.nlm.nih.gov/23359569

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Early phenotypical diagnoses in Trembler-J mice model

1 reference

https://pubmed.ncbi.nlm.nih.gov/23359569

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cation binding at the node of Ranvier in biopsied peripheral nerves of patients with Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies

1 reference

https://pubmed.ncbi.nlm.nih.gov/23359569

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Two recessive intermediate Charcot-Marie-Tooth patients with GDAP1 mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/23359569

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Focally folded myelin in Charcot-Marie-Tooth neuropathy type 1B with Ser49Leu in the myelin protein zero.

1 reference

https://pubmed.ncbi.nlm.nih.gov/23359569

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Tomacula in MAG-deficient mice

1 reference

https://pubmed.ncbi.nlm.nih.gov/23359569

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mtmr13/Sbf2-deficient mice: an animal model for CMT4B2

1 reference

https://pubmed.ncbi.nlm.nih.gov/23359569

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1093/HMG/DDT022

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

release_4sdmo3cxvfgcjlarfxwm6zdeu4

1 reference

https://api.fatcat.wiki/v0/release/4sdmo3cxvfgcjlarfxwm6zdeu4

24 November 2022

based on heuristic

mapped directly with Wikidata item

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

ResearchGate publication ID

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