(Q55517221)

14 July 2018

title

Novel mutation in Sjogren-Larsson syndrome is associated with divergent neurologic phenotypes. (English)

1 reference

14 July 2018

main subject

Sjogren-Larsson syndrome

1 reference

Kathleen Davis

1

1 reference

14 July 2018

Kenton R Holden

2

1 reference

14 July 2018

Dana S'Aulis

3

1 reference

14 July 2018

Claudia Amador

4

1 reference

14 July 2018

M Gisele Matheus

5

1 reference

14 July 2018

William B Rizzo

6

1 reference

14 July 2018

publication date

3 October 2012

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14 July 2018

Journal of Child Neurology

published in

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14 July 2018

volume

28

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14 July 2018

issue

10

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14 July 2018

page(s)

1259-1265

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14 July 2018

Large contiguous gene deletions in Sjögren-Larsson syndrome

cites work

1 reference

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Non-P450 aldehyde oxidizing enzymes: the aldehyde dehydrogenase superfamily

27 July 2018

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Dual subcellular localization in the endoplasmic reticulum and peroxisomes and a vital role in protecting against oxidative stress of fatty aldehyde dehydrogenase are achieved by alternative splicing

27 July 2018

1 reference

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Sjögren-Larsson syndrome in Brazil is caused by a common c.1108-1G-->C splice-site mutation in the ALDH3A2 gene

27 July 2018

1 reference

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Phenotypic variability among adult siblings with Sjögren-Larsson syndrome

27 July 2018

1 reference

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Sjögren-Larsson syndrome: diversity of mutations and polymorphisms in the fatty aldehyde dehydrogenase gene (ALDH3A2).

27 July 2018

1 reference

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Oligophrenia in combination with congenital ichthyosis and spastic disorders; a clinical and genetic study

27 July 2018

1 reference

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The molecular basis of Sjögren-Larsson syndrome: mutation analysis of the fatty aldehyde dehydrogenase gene

27 July 2018

1 reference

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Spectrum of mutations and sequence variants in the FALDH gene in patients with Sjögren-Larsson syndrome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6028016

A common deletion mutation in European patients with Sjögren-Larsson syndrome.

27 July 2018

1 reference

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Sjögren-Larsson syndrome is caused by a common mutation in northern European and Swedish patients

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6028016

Human liver fatty aldehyde dehydrogenase: microsomal localization, purification, and biochemical characterization

27 July 2018

1 reference

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Redefining the Sjögren-Larsson syndrome: atypical findings in three siblings and implications regarding diagnosis.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6028016

Microsomal aldehyde dehydrogenase is localized to the endoplasmic reticulum via its carboxyl-terminal 35 amino acids

27 July 2018

1 reference

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Sjögren-Larsson syndrome: molecular genetics and biochemical pathogenesis of fatty aldehyde dehydrogenase deficiency

27 July 2018

1 reference

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MR imaging and proton MR spectroscopic studies in Sjögren-Larsson syndrome: characterization of the leukoencephalopathy

12 August 2018

1 reference

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Clinical, biochemical and molecular genetic characteristics of 19 patients with the Sjögren-Larsson syndrome

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6028016

RNA-based mutation screening in German families with Sjögren-Larsson syndrome.

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6028016

Sjögren-Larsson syndrome: clinical and MRI/MRS findings in FALDH-deficient patients

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6028016

A missense mutation in the FALDH gene identified in Sjögren-Larsson syndrome patients originating from the northern part of Sweden.

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6028016

Sjögren-Larsson syndrome: physical and neurological features. A survey of 35 patients.

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6028016

Sjögren-Larsson syndrome. Deficient activity of the fatty aldehyde dehydrogenase component of fatty alcohol:NAD+ oxidoreductase in cultured fibroblasts

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6028016

Preterm birth in Sjögren-Larsson syndrome

12 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23034980

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1177/0883073812460581

1 reference

14 July 2018

PMC publication ID

6028016

1 reference

14 July 2018

PubMed publication ID

23034980

1 reference

14 July 2018