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Berkel, Simone [Author]

Identifizierung und funktionelle Analyse von SHANK2-Mutationen bei mentaler Retardierung und Autismus

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2013 ; Online-Ausgabe, Heidelberg: Universitätsbibliothek Heidelberg, 2022

Published in: Heidelberger Akademie der Wissenschaften: Jahrbuch der Heidelberger Akademie der Wissenschaften für ... ; (2012), Seite 256-257
Unsicker, Christine [Author]; Cristian, Flavia-Bianca [Author]; Hahn, Manja von [Author]; Eckstein, Volker [Author]; Rappold, Gudrun [Author]; Berkel, Simone [Author]

SHANK2 mutations impair apoptosis, proliferation and neurite outgrowth during early neuronal differentiation in SH-SY5Y cells

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https://www.nature.com/articles/s41598-021-81241-4

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22 January 2021

Published in: Scientific reports ; 11(2021), Artikel-ID 2128, Seite 1-15
Sena Cortabitarte, Ana de [Author]; Berkel, Simone [Author]; Cristian, Flavia-Bianca [Author]; Fischer, Christine [Author]; Rappold, Gudrun [Author]

A direct regulatory link between microRNA-137 and SHANK2 : implications for neuropsychiatric disorders

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New York: Springer, 2018
Berkel, Simone [Author]; Eltokhi, Ahmed [Author]; Fröhlich, Henning [Author]; Porras-Gonzalez, Diana [Author]; Rafiullah, Rafiullah [Author]; Sprengel, Rolf [Author]; Rappold, Gudrun [Author]

Sex hormones regulate SHANK expression

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25 September 2018

Published in: Frontiers in molecular neuroscience ; 11(2018), Artikel-ID 337
Rafiullah, Rafiullah [Author]; Aslamkhan, Muhammad [Author]; Paramasivam, Nagarajan [Author]; Thiel, Christian [Author]; Mustafa, Ghulam [Author]; Wiemann, Stefan [Author]; Schlesner, Matthias [Author]; Wade, Rebecca C [Author]; Rappold, Gudrun A [Author]; Berkel, Simone [Author]

Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family

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Augsburg University Publication Server (OPUS), 2016
Eltokhi, Ahmed [Author]; Gonzalez-Lozano, Miguel A. [Author]; Oettl, Lars-Lennart [Author]; Rozov, Andrei [Author]; Pitzer, Claudia [Author]; Röth, Ralph [Author]; Berkel, Simone [Author]; Hüser, Markus [Author]; Harten, Aliona [Author]; Kelsch, Wolfgang [Author]; Smit, August B. [Author]; Rappold, Gudrun [Author]; Sprengel, Rolf [Author]

Imbalanced post- and extrasynaptic SHANK2A functions during development affect social behavior in SHANK2-mediated neuropsychiatric disorders

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https://www.nature.com/articles/s41380-021-01140-y

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21 May 2021

Published in: Molecular psychiatry ; 26(2021), Seite 6482-6504
Unsicker, Christine; Cristian, Flavia-Bianca; von Hahn, Manja; Eckstein, Volker; Rappold, Gudrun A.; Berkel, Simone

SHANK2 mutations impair apoptosis, proliferation and neurite outgrowth during early neuronal differentiation in SH-SY5Y cells

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Springer Science and Business Media LLC, 2021

Published in: Scientific Reports
Cristian, Flavia-Bianca; Köppel, Alexandra; Janssen, Johannes; Utikal, Jochen S.; Rappold, Gudrun A.; Berkel, Simone

Generation of two hiPSC lines from a patient with autism spectrum disorder harboring a 120 kb deletion in SHANK2 and two control lines from each parent

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Elsevier BV, 2020

Published in: Stem Cell Research
Tong, Yapei; Trajkovic, Milos; Savino, Simone; van Berkel, Willem J.H.; Fraaije, Marco W.

Substrate binding tunes the reactivity of hispidin 3-hydroxylase, a flavoprotein monooxygenase involved in fungal bioluminescence

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Elsevier BV, 2020

Published in: Journal of Biological Chemistry
de Sena Cortabitarte, Ana; Berkel, Simone; Cristian, Flavia-Bianca; Fischer, Christine; Rappold, Gudrun A.

A direct regulatory link between microRNA-137 and SHANK2: implications for neuropsychiatric disorders

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Springer Science and Business Media LLC, 2018

Published in: Journal of Neurodevelopmental Disorders
Berkel, Simone; Eltokhi, Ahmed; Fröhlich, Henning; Porras-Gonzalez, Diana; Rafiullah, Rafiullah; Sprengel, Rolf; Rappold, Gudrun A.

Sex Hormones Regulate SHANK Expression

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Frontiers Media SA, 2018

Published in: Frontiers in Molecular Neuroscience
Ferdinandusse, Sacha; Denis, Simone; van Berkel, Emanuel; Dacremont, Georges; Wanders, Ronald J.A.

Peroxisomal fatty acid oxidation disorders and 58 kDa sterol carrier protein X (SCPx): activity measurements in liver and fibroblasts using a newly developed method

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Elsevier BV, 2000

Published in: Journal of Lipid Research
Berkel, Simone; Hummel, Frank; Gaa, Jochen; Back, Walter; Hofheinz, Ralf; Queisser, Wolfgang; Singer, Manfred V.; Löhr, Matthias

Poorly differentiated small cell carcinoma of the pancreas

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Elsevier BV, 2004

Published in: Pancreatology
Rafiullah, Rafiullah; Aslamkhan, Muhammad; Paramasivam, Nagarajan; Thiel, Christian; Mustafa, Ghulam; Wiemann, Stefan; Schlesner, Matthias; Wade, Rebecca C; Rappold, Gudrun A; Berkel, Simone

Homozygous missense mutation in theLMAN2Lgene segregates with intellectual disability in a large consanguineous Pakistani family

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BMJ, 2016

Published in: Journal of Medical Genetics
Berkel, Simone; Tang, Wannan; Treviño, Mario; Vogt, Miriam; Obenhaus, Horst Andreas; Gass, Peter; Scherer, Stephen Wayne; Sprengel, Rolf; Schratt, Gerhard; Rappold, Gudrun Anna

Inherited and de novo SHANK2 variants associated with autism spectrum disorder impair neuronal morphogenesis and physiology

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Oxford University Press (OUP), 2012

Published in: Human Molecular Genetics
Eltokhi, Ahmed; Gonzalez-Lozano, Miguel A.; Oettl, Lars-Lennart; Rozov, Andrey; Pitzer, Claudia; Röth, Ralph; Berkel, Simone; Hüser, Markus; Harten, Aliona; Kelsch, Wolfgang; Smit, August B.; Rappold, Gudrun A.; Sprengel, Rolf

Correction: Imbalanced post- and extrasynaptic SHANK2A functions during development affect social behavior in SHANK2-mediated neuropsychiatric disorders

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Springer Science and Business Media LLC, 2021

Published in: Molecular Psychiatry
Eltokhi, Ahmed; Gonzalez-Lozano, Miguel A.; Oettl, Lars-Lennart; Rozov, Andrey; Pitzer, Claudia; Röth, Ralph; Berkel, Simone; Hüser, Markus; Harten, Aliona; Kelsch, Wolfgang; Smit, August B.; Rappold, Gudrun A.; Sprengel, Rolf

Imbalanced post- and extrasynaptic SHANK2A functions during development affect social behavior in SHANK2-mediated neuropsychiatric disorders

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Springer Science and Business Media LLC, 2021

Published in: Molecular Psychiatry
de Sena Cortabitarte, Ana; Degenhardt, Franziska; Strohmaier, Jana; Lang, Maren; Weiss, Birgit; Roeth, Ralph; Giegling, Ina; Heilmann‐Heimbach, Stefanie; Hofmann, Andrea; Rujescu, Dan; Fischer, Christine; Rietschel, Marcella; Nöthen, Markus M.; Rappold, Gudrun A.; Berkel, Simone

Investigation of SHANK3 in schizophrenia

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Wiley, 2017

Published in: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
Rafiullah, Rafiullah; Long, Alyssa B.; Ivanova, Anna A.; Ali, Hazrat; Berkel, Simone; Mustafa, Ghulam; Paramasivam, Nagarajan; Schlesner, Matthias; Wiemann, Stefan; Wade, Rebecca C.; Bolthauser, Eugen; Blum, Martin; Kahn, Richard A.; Caspary, Tamara; Rappold, Gudrun A.

A novel homozygous ARL13B variant in patients with Joubert syndrome impairs its guanine nucleotide-exchange factor activity

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Springer Science and Business Media LLC, 2017

Published in: European Journal of Human Genetics
Zammarchi, Francesca; Corbett, Simon; Adams, Lauren; Mellinas-Gomez, Maria; Tyrer, Peter; Dissanayake, Sandamali; Sims, Simone; Havenith, Karin; Chivers, Simon; Willimas, David G; Howard, Philip W; Hartley, John A.; van Berkel, Patrick

hLL2-Cys-PBD, a New Site-Specifically Conjugated, Pyrrolobenzodiazepine (PBD) Dimer-Based Antibody Drug Conjugate (ADC) Targeting CD22-Expressing B-Cell Malignancies

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American Society of Hematology, 2016

Published in: Blood

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