(Q50887470)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23791309%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

title

Identification of mutation in NPC2 by exome sequencing results in diagnosis of Niemann-Pick disease type C (English)

1 reference

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3 March 2020

1 reference

2

1 reference

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3 March 2020

Afagh Alavi

1

1 reference

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3 March 2020

author name string

Hosein Shamshiri

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23791309%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Maryam Malakooti Nejad

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23791309%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Elahe Elahi

5

1 reference

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3 March 2020

publication date

6 June 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23791309%20AND%20SRC:MED&resulttype=core&format=json

Molecular Genetics and Metabolism

3 March 2020

published in

1 reference

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3 March 2020

volume

110

1 reference

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3 March 2020

issue

1-2

1 reference

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3 March 2020

page(s)

139-144

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23791309%20AND%20SRC:MED&resulttype=core&format=json

The cerebral defect in Tay-Sachs disease and Niemann-Pick disease

3 March 2020

cites work

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The metabolism of sphingomyelin. II. Evidence of an enzymatic deficiency in Niemann-Pick diseae

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Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis

7 January 2021

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Identification of HE1 as the second gene of Niemann-Pick C disease

7 January 2021

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The Nova Scotia (type D) form of Niemann-Pick disease is caused by a G3097-->T transversion in NPC1.

7 January 2021

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Niemann-Pick disease type C.

7 January 2021

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Niemann-Pick C disease: functional characterization of three NPC2 mutations and clinical and molecular update on patients with NPC2.

7 January 2021

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NPC-db, a Niemann-Pick type C disease gene variation database

7 January 2021

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Lipid changes in Niemann-Pick disease type C brain: personal experience and review of the literature

7 January 2021

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Consequences of NPC1 and NPC2 loss of function in mammalian neurons

7 January 2021

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Trafficking defects in endogenously synthesized cholesterol in fibroblasts, macrophages, hepatocytes, and glial cells from Niemann-Pick type C1 mice

7 January 2021

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The intracellular transport of low density lipoprotein-derived cholesterol is defective in Niemann-Pick type C fibroblasts

7 January 2021

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Linkage of Niemann-Pick disease type C to human chromosome 18

7 January 2021

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Niemann-Pick C1 is a late endosome-resident protein that transiently associates with lysosomes and the trans-Golgi network

7 January 2021

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Identification of novel mutations in the NPC1 gene in German patients with Niemann-Pick C disease

7 January 2021

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Complementation studies in Niemann-Pick disease type C indicate the existence of a second group

7 January 2021

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A porcine homolog of the major secretory protein of human epididymis, HE1, specifically binds cholesterol

7 January 2021

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The integrity of a cholesterol-binding pocket in Niemann-Pick C2 protein is necessary to control lysosome cholesterol levels.

7 January 2021

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A novel role for Niemann-Pick disease type 2C protein in papillae formation

7 January 2021

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Deficient ferritin immunoreactivity in tissues from niemann-pick type C patients: extension of findings to fetal tissues, H and L ferritin isoforms, but also one case of the rare Niemann-Pick C2 complementation group

7 January 2021

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Genetic evidence for nonredundant functional cooperativity between NPC1 and NPC2 in lipid transport

7 January 2021

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Early-lethal pulmonary form of Niemann-Pick type C disease belonging to a second, rare genetic complementation group

7 January 2021

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Respiratory disease in Niemann-Pick type C2 is caused by pulmonary alveolar proteinosis

7 January 2021

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

7 January 2021

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Genetic analysis and SOD1 mutation screening in Iranian amyotrophic lateral sclerosis patients.

7 January 2021

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El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis

7 January 2021

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A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD

7 January 2021

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An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia

7 January 2021

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Exome analysis of two limb-girdle muscular dystrophy families: mutations identified and challenges encountered

7 January 2021

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Mutations in phospholipase DDHD2 cause autosomal recessive hereditary spastic paraplegia (SPG54).

7 January 2021

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7 January 2021

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A novel homozygous mutation in SUCLA2 gene identified by exome sequencing

7 January 2021

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Exome sequencing reveals a homozygous mutation in TWINKLE as the cause of multisystemic failure including renal tubulopathy in three siblings

7 January 2021

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7 January 2021

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Exome sequencing identifies the cause of a mendelian disorder

7 January 2021

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Subclinical course of adult visceral Niemann-Pick type C1 disease. A rare or underdiagnosed disorder?

7 January 2021

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7 January 2021

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7 January 2021

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