(Q34097846)

31 July 2017

title

Corneal alterations during combined therapy with cyclodextrin/allopregnanolone and miglustat in a knock-out mouse model of NPC1 disease (English)

1 reference

31 July 2017

Martin Witt

5

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author name string

Marine Hovakimyan

1

1 reference

31 July 2017

Jana Petersen

2

1 reference

31 July 2017

Fabian Maass

3

1 reference

31 July 2017

Maria Reichard

4

1 reference

31 July 2017

Jan Lukas

6

1 reference

31 July 2017

Oliver Stachs

7

1 reference

31 July 2017

Rudolf Guthoff

8

1 reference

31 July 2017

Arndt Rolfs

9

1 reference

31 July 2017

Andreas Wree

10

1 reference

31 July 2017

language of work or name

English

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publication date

6 December 2011

1 reference

31 July 2017

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31 July 2017

volume

6

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31 July 2017

issue

12

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31 July 2017

page(s)

e28418

1 reference

Creative Commons Attribution 4.0 International

31 July 2017

copyright license

start time

6 December 2011

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

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Increased Langerhan cell density and corneal nerve damage in diabetic patients: role of immune mechanisms in human diabetic neuropathy.

5 July 2018

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5 July 2018

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The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations

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Miglustat in adult and juvenile patients with Niemann-Pick disease type C: long-term data from a clinical trial

5 July 2018

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Lack of Niemann-Pick type C1 induces age-related degeneration in the mouse retina

5 July 2018

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Chronic cyclodextrin treatment of murine Niemann-Pick C disease ameliorates neuronal cholesterol and glycosphingolipid storage and disease progression

5 July 2018

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Evaluation of treatment with cysteamine eyedrops for cystinosis with confocal microscopy.

5 July 2018

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Pharmacokinetics, safety and tolerability of miglustat in the treatment of pediatric patients with GM2 gangliosidosis

5 July 2018

1 reference

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The microstructure of cornea verticillata in Fabry disease and amiodarone-induced keratopathy: a confocal laser-scanning microscopy study

5 July 2018

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Ocular manifestation of storage diseases

5 July 2018

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Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study

5 July 2018

1 reference

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Treatment of Niemann-Pick disease type C in two children with miglustat: initial responses and maintenance of effects over 1 year.

5 July 2018

1 reference

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Pregnane X receptor (PXR) activation: a mechanism for neuroprotection in a mouse model of Niemann-Pick C disease

5 July 2018

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Niemann-Pick C disease in Spain: clinical spectrum and development of a disability scale

5 July 2018

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Cyclin-dependent kinase inhibitors attenuate protein hyperphosphorylation, cytoskeletal lesion formation, and motor defects in Niemann-Pick Type C mice

5 July 2018

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Niemann-Pick C1 Like 1 protein is critical for intestinal cholesterol absorption

5 July 2018

1 reference

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INBORN LYSOSOMAL DISEASES.

5 July 2018

1 reference

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Niemann-Pick disease type C.

5 July 2018

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Site-specific phosphorylation of tau accompanied by activation of mitogen-activated protein kinase (MAPK) in brains of Niemann-Pick type C mice

5 July 2018

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Niemann-Pick C1 disease: the I1061T substitution is a frequent mutant allele in patients of Western European descent and correlates with a classic juvenile phenotype

5 July 2018

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Cholesterol accumulation in tissues of the Niemann-pick type C mouse is determined by the rate of lipoprotein-cholesterol uptake through the coated-pit pathway in each organ

5 July 2018

1 reference

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Niemann-Pick disease type C

5 July 2018

1 reference

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Recent advances in elucidating Niemann-Pick C disease

5 July 2018

1 reference

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Murine model of Niemann-Pick C disease: mutation in a cholesterol homeostasis gene

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3232193

Neurofibrillary tangles in Niemann-Pick disease type C.

5 July 2018

1 reference

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Lysosome lipid storage disorder in NCTR-BALB/c mice. I. Description of the disease and genetics

5 July 2018

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Niemann-Pick disease type C. Study on the nature of the cerebral storage process

5 July 2018

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Neurovisceral lipidosis compatible with Niemann-Pick disease type C: Morphological and biochemical studies of a late infantile case and enzyme and lipid assays in a prenatal case of the same family

5 July 2018

1 reference

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Ophthalmologic Aspects of Lipid Storage Diseases

5 July 2018

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Sterols and intracellular vesicular trafficking: lessons from the study of NPC1.

5 July 2018

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Mitogen-activated protein kinase activity may not be necessary for the neuropathology of Niemann-Pick type C mice.

21 January 2018

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Critical role for glycosphingolipids in Niemann-Pick disease type C.

21 January 2018

1 reference

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Treatment with miglustat reverses the lipid-trafficking defect in Niemann-Pick disease type C.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0028418

Miglustat in patients with Niemann-Pick disease Type C (NP-C): a multicenter observational retrospective cohort study

21 January 2018

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Niemann-Pick type C disease involves disrupted neurosteroidogenesis and responds to allopregnanolone

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0028418

Loss of amyloid precursor protein in a mouse model of Niemann-Pick type C disease exacerbates its phenotype and disrupts tau homeostasis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0028418

Saccades in adult Niemann-Pick disease type C reflect frontal, brainstem, and biochemical deficits.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0028418

Confocal microscopy and corneal sensitivity in a patient with corneal manifestations of Tangier disease

21 January 2018

1 reference

12 December 2020

Niemann-Pick disease (type C). Histopathology and ultrastructure

1 reference

12 December 2020

Niemann-Pick disease--type C. Ocular histopathologic and electron microscopic studies

1 reference

12 December 2020

Niemann-Pick disease group C: clinical variability and diagnosis based on defective cholesterol esterification. A collaborative study on 70 patients

1 reference

12 December 2020

10.1371/JOURNAL.PONE.0028418

Identifiers

DOI

1 reference

31 July 2017

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31 July 2017

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