Publications by authors named "Berthold Streubel"

110 Publications

Tetraparesis and sensorimotor axonal polyneuropathy due to co-occurrence of Pompe disease and hereditary ATTR amyloidosis.

Neurol Sci 2020 Nov 13. Epub 2020 Nov 13.

Department of Neurology and Hertie Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Hoppe-Seyler-Str. 3, 72076, Tübingen, Germany.

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November 2020

Genetic diagnosis and clinical evaluation of severe fetal akinesia syndrome.

Prenat Diagn 2020 12 10;40(12):1532-1539. Epub 2020 Sep 10.

Core Facility Genomics, Medical University of Vienna, Vienna, Austria.

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December 2020

α-Mannosidosis - An underdiagnosed lysosomal storage disease in individuals with an 'MPS-like' phenotype.

Mol Genet Metab 2020 06 10;130(2):149-152. Epub 2020 Apr 10.

ARCHIMED Life Science GmbH, Leberstraße 20, 1110 Vienna, Austria. Electronic address:

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June 2020

New Fabry disease mutation confirms cardiomyopathy aetiology: a case report.

Eur Heart J Case Rep 2018 Dec 29;2(4):yty133. Epub 2018 Nov 29.

Department of Cardiology, Emergency Institute for Cardiovascular Diseases 'Prof. Dr C. C. Iliescu', Şos. Fundeni no 258, Bucharest, Romania.

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December 2018

Genetic association in female stress urinary incontinence based on proteomic findings: a case-control study.

Int Urogynecol J 2020 01 4;31(1):117-122. Epub 2019 Feb 4.

Department of Obstetrics and Gynecology, Medical University of Vienna, Spitalgasse 23, 1090, Vienna, Austria.

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January 2020

Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) - a rare recently described gastric polyposis syndrome - report of a case.

Z Gastroenterol 2017 Nov 15;55(11):1131-1134. Epub 2017 Nov 15.

Department of Pathology, Medical University of Vienna, Vienna, Austria.

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November 2017

Whole-exome sequencing to identify the cause of congenital sensorineural hearing loss in carriers of a heterozygous GJB2 mutation.

Eur Arch Otorhinolaryngol 2017 Oct 18;274(10):3619-3625. Epub 2017 Aug 18.

Department for Cell and Developmental Biology, Center for Anatomy and Cell Biology, Medical University of Vienna, Vienna, Austria.

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October 2017

Identification of a rare COCH mutation by whole-exome sequencing : Implications for personalized therapeutic rehabilitation in an Austrian family with non-syndromic autosomal dominant late-onset hearing loss.

Wien Klin Wochenschr 2018 May 21;130(9-10):299-306. Epub 2017 Jul 21.

Department for Cell and Developmental Biology, Orphan disease genetics group, Center for Anatomy and Cell Biology, Medical University of Vienna, Vienna, Austria.

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May 2018

Molecular pathology of cancer: how to communicate with disease.

ESMO Open 2016 17;1(5):e000085. Epub 2016 Nov 17.

Department of Pathology , Medical University of Vienna , Vienna , Austria.

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November 2016

Enhanced expression of the stemness-related factors OCT4, SOX15 and TWIST1 in ectopic endometrium of endometriosis patients.

Reprod Biol Endocrinol 2016 Nov 24;14(1):81. Epub 2016 Nov 24.

Department of Obstetrics and Gynecology, Medical University of Vienna, Waehringer Guertel 18-20, 1090, Vienna, Austria.

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November 2016

Late-onset pompe disease in Iran: A clinical and genetic report.

Muscle Nerve 2017 06 3;55(6):835-840. Epub 2017 Feb 3.

Iranian Center of Neurological Research, Shariati Hospital, Tehran University of Medical Sciences, North Karegar Street, Tehran, 14114, Iran.

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June 2017

Comprehensive study of angiogenic factors in women with endometriosis compared to women without endometriosis.

Eur J Obstet Gynecol Reprod Biol 2016 Sep 3;204:88-98. Epub 2016 Aug 3.

Department of Obstetric and Gynecology, Medical University Vienna, Waehringer Guertel 18-20, 1090 Vienna, Austria(​). Electronic address:

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September 2016

Impact of Single or Combined Genomic Alterations of TP53, MYC, and BCL2 on Survival of Patients With Diffuse Large B-Cell Lymphomas: A Retrospective Cohort Study.

Medicine (Baltimore) 2015 Dec;94(52):e2388

From the Clinical Institute of Pathology, Medical University of Vienna, Vienna, Austria (A-IS, CK, IS-K, BS, KW, BM, LM); Division of Hematology and Hemostaseology, Department of Internal Medicine I, Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria (CS, KV, UJ, EP); Division of Palliative Care, Department of Internal Medicine I, Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria (EKM); Institute of Pharmacology, Center for Physiology and Pharmacology, Medical University of Vienna, Vienna, Austria (DS); Ludwig Boltzmann Institute for Cancer Research, Vienna, Austria (DS); Institute of Pharmacology and Toxicology, Department of Biomedical Sciences, Veterinary University of Vienna, Vienna, Austria (VS); Division of Oncology, Department of Internal Medicine I, Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria (MR); Institute of Pathology and Bacteriology, Wilhelminenspital, Vienna, Austria (AC); Portuguese Institute of Oncology, Haematology Unit, Lisbon, Portugal (MGdS); and Portuguese Institute of Anatomical Pathology, Lisbon, Portugal (JC).

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December 2015

Identification of CD25 as STAT5-Dependent Growth Regulator of Leukemic Stem Cells in Ph+ CML.

Clin Cancer Res 2016 Apr 25;22(8):2051-61. Epub 2015 Nov 25.

Division of Hematology and Hemostaseology, Department of Internal Medicine I, Medical University of Vienna, Vienna, Austria. Ludwig Boltzmann Cluster Oncology, Medical University of Vienna, Vienna, Austria.

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April 2016

Enhanced epithelial to mesenchymal transition (EMT) and upregulated MYC in ectopic lesions contribute independently to endometriosis.

Reprod Biol Endocrinol 2015 Jul 22;13:75. Epub 2015 Jul 22.

Department of Obstetrics and Gynecology, Medical University of Vienna, Waehringer Guertel 18-20, Vienna, 1090, Austria.

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July 2015

Spectrum of gene mutations detected by next generation exome sequencing in brain metastases of lung adenocarcinoma.

Eur J Cancer 2015 Sep 8;51(13):1803-11. Epub 2015 Jul 8.

Department of Pathology, Medical University of Vienna, Vienna, Austria; Comprehensive Cancer Center, Central Nervous System Unit (CCC-CNS), Medical University of Vienna, Austria.

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September 2015

Predictive molecular markers in metastases to the central nervous system: recent advances and future avenues.

Acta Neuropathol 2014 Dec 7;128(6):879-91. Epub 2014 Oct 7.

Department of Medicine 1 and Comprehensive Cancer Center Vienna, Medical University of Vienna, Währinger Gürtel 18-20, 1090, Vienna, Austria.

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December 2014