Long-term clinical follow-up and molecular genetic findings in eight patients with triple A syndrome (Q33161251)

23 July 2017

Long-term clinical follow-up and molecular genetic findings in eight patients with triple A syndrome (English)

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23 July 2017

4

Katarina Stingl

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23 July 2017

Miroslav Dumic

1

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23 July 2017

Nina Barišic

2

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23 July 2017

Vesna Kusec

3

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23 July 2017

Mate Skegro

5

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23 July 2017

Andrija Stanimirovic

6

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23 July 2017

Katrin Koehler

7

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23 July 2017

Angela Huebner

8

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23 July 2017

28 April 2012

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European Journal of Pediatrics

23 July 2017

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23 July 2017

171

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23 July 2017

1453-1459

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23 July 2017

10

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https://scigraph.springernature.com/pub.10.1007/s00431-012-1745-1

23 July 2017

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cites work

Proteomic analysis of the mammalian nuclear pore complex

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1745-1

Nuclear envelope proteomics: novel integral membrane proteins of the inner nuclear membrane

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1745-1

Two siblings with triple A syndrome and novel mutation presenting as hereditary polyneuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1745-1

A novel AAAS gene mutation (p.R194X) in a patient with triple A syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1745-1

Progressive bulbospinal amyotrophy in triple A syndrome with AAAS gene mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1745-1

Neurological and adrenal dysfunction in the adrenal insufficiency/alacrima/achalasia (3A) syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1745-1

Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1745-1

ALADINI482S causes selective failure of nuclear protein import and hypersensitivity to oxidative stress in triple A syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1745-1

Clinical and genetic characterization of families with triple A (Allgrove) syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1745-1

The nuclear pore complex protein ALADIN is anchored via NDC1 but not via POM121 and GP210 in the nuclear envelope

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1745-1

Axonal neuropathy with unusual pattern of amyotrophy and alacrima associated with a novel AAAS mutation p.Leu430Phe

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1745-1

Cellular localization of 17 natural mutant variants of ALADIN protein in triple A syndrome - shedding light on an unexpected splice mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1745-1

Triple A syndrome: genotype–phenotype assessment

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1745-1

An Alu-mediated rearrangement causing a 3.2kb deletion and a novel two base pair deletion in AAAS gene as the cause of triple A syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1745-1

Late-onset triple A syndrome: a risk of overlooked or delayed diagnosis and management

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1745-1

Triple A syndrome mimicking ALS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1745-1

A novel mutation of the adrenocorticotropin receptor (ACTH-R) gene in a family with the syndrome of isolated glucocorticoid deficiency, but no ACTH-R abnormalities in two families with the triple A syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1745-1

Mutant WD-repeat protein in triple-A syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1745-1

Triple-A syndrome--the first Chinese patient with novel mutations in the AAAS gene

21 January 2018

1 reference

12 December 2020

Two Italian patients with novel AAAS gene mutation expand allelic and phenotypic spectrum of triple A (Allgrove) syndrome

1 reference

12 December 2020

Triple A syndrome: 32 years experience of a single centre (1977-2008)

1 reference

12 December 2020

Allgrove syndrome: an autosomal recessive syndrome of ACTH insensitivity, achalasia and alacrima

1 reference

12 December 2020

Allgrove syndrome with features of familial dysautonomia: a novel mutation in the AAAS gene

1 reference

12 December 2020

Triple A or Allgrove syndrome. A case report with ophthalmic abnormalities and a novel mutation in the AAAS gene

1 reference

12 December 2020

Adrenocorticotropic hormone insensitivity associated with autonomic nervous system disorders

1 reference

12 December 2020

The "4A" syndrome: adrenocortical insufficiency associated with achalasia, alacrima, autonomic and other neurological abnormalities

1 reference

12 December 2020

10.1007/S00431-012-1745-1

Identifiers

DOI

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Dimensions Publication ID

23 July 2017

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