Characteristics of cardiomyopathy in Alström syndrome: Prospective single-center data on 38 patients (Q36404674)

14 August 2017

title

Characteristics of cardiomyopathy in Alström syndrome: Prospective single-center data on 38 patients (English)

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14 August 2017

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Andrew E Arai

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14 August 2017

Alessandra Brofferio

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14 August 2017

Vandana Sachdev

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14 August 2017

Hwaida Hannoush

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14 August 2017

Jan D Marshall

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14 August 2017

Jürgen K Naggert

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14 August 2017

Stanislav Sidenko

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14 August 2017

Anna Noreuil

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14 August 2017

Arlene Sirajuddin

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14 August 2017

Joy Bryant

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14 August 2017

Joan C Han

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14 August 2017

William A Gahl

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14 August 2017

Meral Gunay-Aygun

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14 August 2017

publication date

30 May 2017

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Molecular Genetics and Metabolism

14 August 2017

published in

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14 August 2017

volume

121

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14 August 2017

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14 August 2017

page(s)

336-343

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Which QT Correction Formulae to Use for QT Monitoring?

14 August 2017

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Diffuse left ventricular interstitial fibrosis is associated with sub-clinical myocardial dysfunction in Alström Syndrome: an observational study

21 September 2018

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Alström Syndrome: Mutation Spectrum of ALMS1.

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GLUT4 defects in adipose tissue are early signs of metabolic alterations in Alms1GT/GT, a mouse model for obesity and insulin resistance

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Homozygous loss-of-function mutation in ALMS1 causes the lethal disorder mitogenic cardiomyopathy in two siblings.

21 September 2018

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Basal body proteins regulate Notch signaling through endosomal trafficking

21 September 2018

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Mutations in Alström protein impair terminal differentiation of cardiomyocytes

21 September 2018

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The Alström syndrome protein, ALMS1, interacts with α-actinin and components of the endosome recycling pathway

21 September 2018

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Alström syndrome: cardiac magnetic resonance findings

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ALMS1-deficient fibroblasts over-express extra-cellular matrix components, display cell cycle delay and are resistant to apoptosis

21 September 2018

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Centriolar association of ALMS1 and likely centrosomal functions of the ALMS motif-containing proteins C10orf90 and KIAA1731

21 September 2018

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Subclinical left ventricular dysfunction in asymptomatic diabetic patients assessed by two-dimensional speckle tracking echocardiography: correlation with diabetic duration

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New insights and therapies for the metabolic consequences of Alström syndrome

21 September 2018

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Cardiac magnetic resonance imaging in Alström syndrome

21 September 2018

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Cardiac manifestations of Alström syndrome: echocardiographic findings

21 September 2018

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New Alström syndrome phenotypes based on the evaluation of 182 cases

21 September 2018

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Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome

21 September 2018

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Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome

21 September 2018

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Genealogy, natural history, and phenotype of Alström syndrome in a large Acadian kindred and three additional families

21 September 2018

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Recommendations for cardiac chamber quantification by echocardiography in adults: an update from the American Society of Echocardiography and the European Association of Cardiovascular Imaging

21 September 2018

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Crossref

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.05.017

Doppler tissue, strain, and strain rate imaging in pediatric patients with Alström syndrome: are there regional functional abnormalities?

7 January 2021

1 reference

Crossref

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.05.017

10.1016/J.YMGME.2017.05.017

7 January 2021

Identifiers

DOI

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14 August 2017

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