Publications by authors named "Simone Berkel"

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Local patterns of genetic sharing between neuropsychiatric and insulin resistance-related conditions.
Giuseppe Fanelli, Barbara Franke, Chiara Fabbri, Josefin Werme, Izel Erdogan, Simone Berkel

Transl Psychiatry· April 2025

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Molecular landscape of the overlap between Alzheimer's disease and somatic insulin-related diseases.
I Hyun Ruisch, Joanna Widomska, Ward De Witte, Nina R Mota, Giuseppe Fanelli, Simone Berkel

Alzheimers Res Ther· October 2024

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Local patterns of genetic sharing challenge the boundaries between neuropsychiatric and insulin resistance-related conditions.
Giuseppe Fanelli, Barbara Franke, Chiara Fabbri, Josefin Werme, Izel Erdogan, Simone Berkel

medRxiv· March 2024

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The role of insulin/IGF1 signalling in neurodevelopmental and neuropsychiatric disorders - Evidence from human neuronal cell models.
János M Réthelyi, Katalin Vincze, Dorothea Schall, Jeffrey Glennon, Simone Berkel

Neurosci Biobehav Rev· October 2023

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Imbalanced post- and extrasynaptic SHANK2A functions during development affect social behavior in SHANK2-mediated neuropsychiatric disorders.
Ahmed Eltokhi, Miguel A Gonzalez-Lozano, Lars-Lennart Oettl, Andrey Rozov, Claudia Pitzer, Simone Berkel

Mol Psychiatry· November 2021

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Correction: Imbalanced post- and extrasynaptic SHANK2A functions during development affect social behavior in SHANK2-mediated neuropsychiatric disorders.
Ahmed Eltokhi, Miguel A Gonzalez-Lozano, Lars-Lennart Oettl, Andrey Rozov, Claudia Pitzer, Simone Berkel

Mol Psychiatry· November 2021

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SHANK2 mutations impair apoptosis, proliferation and neurite outgrowth during early neuronal differentiation in SH-SY5Y cells.
Christine Unsicker, Flavia-Bianca Cristian, Manja von Hahn, Volker Eckstein, Gudrun A Rappold, Simone Berkel

Sci Rep· January 2021

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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.
Flavia-Bianca Cristian, Alexandra Köppel, Johannes Janssen, Jochen S Utikal, Gudrun A Rappold, Simone Berkel

Stem Cell Res· December 2020

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Sex Hormones Regulate Expression.
Simone Berkel, Ahmed Eltokhi, Henning Fröhlich, Diana Porras-Gonzalez, Rafiullah Rafiullah

Front Mol Neurosci· September 2018

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A direct regulatory link between microRNA-137 and SHANK2: implications for neuropsychiatric disorders.
Ana de Sena Cortabitarte, Simone Berkel, Flavia-Bianca Cristian, Christine Fischer, Gudrun A Rappold

J Neurodev Disord· April 2018

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A novel homozygous ARL13B variant in patients with Joubert syndrome impairs its guanine nucleotide-exchange factor activity.
Rafiullah Rafiullah, Alyssa B Long, Anna A Ivanova, Hazrat Ali, Simone Berkel

Eur J Hum Genet· December 2017

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Investigation of SHANK3 in schizophrenia.
Ana de Sena Cortabitarte, Franziska Degenhardt, Jana Strohmaier, Maren Lang, Birgit Weiss, Simone Berkel

Am J Med Genet B Neuropsychiatr Genet· June 2017

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Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family.
Rafiullah Rafiullah, Muhammad Aslamkhan, Nagarajan Paramasivam, Christian Thiel, Ghulam Mustafa, Simone Berkel

J Med Genet· February 2016

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Inherited and de novo SHANK2 variants associated with autism spectrum disorder impair neuronal morphogenesis and physiology.
Simone Berkel, Wannan Tang, Mario Treviño, Miriam Vogt, Horst Andreas Obenhaus

Hum Mol Genet· January 2012

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Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation.
Simone Berkel, Christian R Marshall, Birgit Weiss, Jennifer Howe, Ralph Roeth

Nat Genet· June 2010

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Poorly differentiated small cell carcinoma of the pancreas. A case report and review of the literature.
Simone Berkel, Frank Hummel, Jochen Gaa, Walter Back, Ralf Hofheinz

Pancreatology· April 2005

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