Annette Schenck

Annette Schenck

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Annette Schenck

Publications by authors named "Annette Schenck"

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Conserved regulation of neurodevelopmental processes and behavior by FoxP in Drosophila.

Authors:
Anna Castells-Nobau Ilse Eidhof Michaela Fenckova Dova B Brenman-Suttner Jolanda M Scheffer-de Gooyert Sheren Christine Rosa L Schellevis Kiran van der Laan Christine Quentin Lisa van Ninhuijs Falko Hofmann Radoslaw Ejsmont Simon E Fisher Jamie M Kramer Stephan J Sigrist Anne F Simon Annette Schenck

PLoS One 2019 12;14(2):e0211652. Epub 2019 Feb 12.

Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0211652PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6372147PMC
November 2019

Habituation Learning Is a Widely Affected Mechanism in Drosophila Models of Intellectual Disability and Autism Spectrum Disorders.

Authors:
Michaela Fenckova Laura E R Blok Lenke Asztalos David P Goodman Pavel Cizek Euginia L Singgih Jeffrey C Glennon Joanna IntHout Christiane Zweier Evan E Eichler Catherine R von Reyn Raphael A Bernier Zoltan Asztalos Annette Schenck

Biol Psychiatry 2019 Aug 9;86(4):294-305. Epub 2019 May 9.

Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.biopsych.2019.04.029DOI Listing
August 2019

Integrative network and brain expression analysis reveals mechanistic modules in ataxia.

Authors:
Ilse Eidhof Bart P van de Warrenburg Annette Schenck

J Med Genet 2019 May 27;56(5):283-292. Epub 2018 Dec 27.

Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1136/jmedgenet-2018-105703DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6581079PMC
May 2019

Intellectual disability and autism spectrum disorders 'on the fly': insights from .

Authors:
Mireia Coll-Tané Alina Krebbers Anna Castells-Nobau Christiane Zweier Annette Schenck

Dis Model Mech 2019 05 13;12(5). Epub 2019 May 13.

Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands

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http://dx.doi.org/10.1242/dmm.039180DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6550041PMC
May 2019

The histone methyltransferase G9a regulates tolerance to oxidative stress-induced energy consumption.

Authors:
Human Riahi Carlijn Brekelmans Sarah Foriel Sarah H Merkling Taylor A Lyons Pavel M Itskov Tjitske Kleefstra Carlos Ribeiro Ronald P van Rij Jamie M Kramer Annette Schenck

PLoS Biol 2019 03 12;17(3):e2006146. Epub 2019 Mar 12.

Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.

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http://dx.doi.org/10.1371/journal.pbio.2006146DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6413895PMC
March 2019

A Mitochondrial Complex I Deficiency Phenotype Array.

Authors:
Sarah Foriel G Herma Renkema Yvonne Lasarzewski Job Berkhout Richard J Rodenburg Jan A M Smeitink Julien Beyrath Annette Schenck

Front Genet 2019 27;10:245. Epub 2019 Mar 27.

Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands.

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https://www.frontiersin.org/article/10.3389/fgene.2019.00245
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http://dx.doi.org/10.3389/fgene.2019.00245DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6445954PMC
March 2019

Cross-species models of attention-deficit/hyperactivity disorder and autism spectrum disorder: lessons from CNTNAP2, ADGRL3, and PARK2.

Authors:
Elisa Dalla Vecchia Niall Mortimer Viola S Palladino Sarah Kittel-Schneider Klaus-Peter Lesch Andreas Reif Annette Schenck William H J Norton

Psychiatr Genet 2019 02;29(1):1-17

Department of Neuroscience, Psychology and Behaviour, University of Leicester, Leicester, UK.

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http://dx.doi.org/10.1097/YPG.0000000000000211DOI Listing
February 2019

Peroxisome-associated Sgroppino links fat metabolism with survival after RNA virus infection in Drosophila.

Authors:
Sarah H Merkling Human Riahi Gijs J Overheul Annette Schenck Ronald P van Rij

Sci Rep 2019 Feb 14;9(1):2065. Epub 2019 Feb 14.

Department of Medical Microbiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/s41598-019-38559-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6375949PMC
February 2019

Proceedings of the fifth international RASopathies symposium: When development and cancer intersect.

Authors:
Katherine A Rauen Lisa Schoyer Lisa Schill Beth Stronach John Albeck Brage S Andresen Hélène Cavé Michelle Ellis Steven M Fruchtman Bruce D Gelb Christopher C Gibson Karen Gripp Erin Hefner William Y C Huang Maxim Itkin Bronwyn Kerr Corinne M Linardic Martin McMahon Beverly Oberlander Ethan Perlstein Nancy Ratner Leslie Rogers Annette Schenck Suma Shankar Stanislav Shvartsman David A Stevenson Edward C Stites Philip J S Stork Cheng Sun Marc Therrien Erik M Ullian Brigitte C Widemann Erika Yeh Giuseppe Zampino Martin Zenker William Timmer Frank McCormick

Am J Med Genet A 2018 12 10;176(12):2924-2929. Epub 2018 Oct 10.

Department of Ophthalmology, Neuroscience Program, University of California, San Francisco, San Francisco, California.

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http://doi.wiley.com/10.1002/ajmg.a.40632
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http://dx.doi.org/10.1002/ajmg.a.40632DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6312476PMC
December 2018

SnapShot: Biology of Genetic Ataxias.

Authors:
Ilse Eidhof Bart P van de Warrenburg Annette Schenck

Cell 2018 10;175(3):890-890.e1

Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.

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http://dx.doi.org/10.1016/j.cell.2018.10.017DOI Listing
October 2018

GDAP2 mutations implicate susceptibility to cellular stress in a new form of cerebellar ataxia.

Authors:
Ilse Eidhof Jonathan Baets Erik-Jan Kamsteeg Tine Deconinck Lisa van Ninhuijs Jean-Jacques Martin Rebecca Schüle Stephan Züchner Peter De Jonghe Annette Schenck Bart P van de Warrenburg

Brain 2018 09;141(9):2592-2604

Department of Neurology, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Centre, GC Nijmegen, The Netherlands.

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https://academic.oup.com/brain/advance-article/doi/10.1093/b
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http://dx.doi.org/10.1093/brain/awy198DOI Listing
September 2018

Feeding difficulties, a key feature of the NDUFS4 mitochondrial disease model.

Authors:
Sarah Foriel Julien Beyrath Ilse Eidhof Richard J Rodenburg Annette Schenck Jan A M Smeitink

Dis Model Mech 2018 03 27;11(3). Epub 2018 Mar 27.

Khondrion BV, Philips van Leydenlaan 15, 6525 EX, Nijmegen, The Netherlands

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http://dx.doi.org/10.1242/dmm.032482DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5897729PMC
March 2018

High-throughput Analysis of Locomotor Behavior in the Drosophila Island Assay.

Authors:
Ilse Eidhof Michaela Fenckova Dei M Elurbe Bart van de Warrenburg Anna Castells Nobau Annette Schenck

J Vis Exp 2017 11 5(129). Epub 2017 Nov 5.

Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center;

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http://dx.doi.org/10.3791/55892DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5755321PMC
November 2017

Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder.

Authors:
Tom S Koemans Tjitske Kleefstra Melissa C Chubak Max H Stone Margot R F Reijnders Sonja de Munnik Marjolein H Willemsen Michaela Fenckova Connie T R M Stumpel Levinus A Bok Margarita Sifuentes Saenz Kyna A Byerly Linda B Baughn Alexander P A Stegmann Rolph Pfundt Huiqing Zhou Hans van Bokhoven Annette Schenck Jamie M Kramer

PLoS Genet 2017 Oct 25;13(10):e1006864. Epub 2017 Oct 25.

Department of Biology, Faculty of Science, Western University, London, Ontario, Canada.

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http://dx.doi.org/10.1371/journal.pgen.1006864DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5656305PMC
October 2017

Drosophila Courtship Conditioning As a Measure of Learning and Memory.

Authors:
Tom S Koemans Cornelia Oppitz Rogier A T Donders Hans van Bokhoven Annette Schenck Krystyna Keleman Jamie M Kramer

J Vis Exp 2017 06 5(124). Epub 2017 Jun 5.

Department of Physiology and Pharmacology, Schulich School of Medicine and Dentistry, Western University; Department of Biology, Faculty of Science, Western University;

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http://dx.doi.org/10.3791/55808DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5608251PMC
June 2017

Two Algorithms for High-throughput and Multi-parametric Quantification of Drosophila Neuromuscular Junction Morphology.

Authors:
Anna Castells-Nobau Bonnie Nijhof Ilse Eidhof Louis Wolf Jolanda M Scheffer-de Gooyert Ignacio Monedero Laura Torroja Jeroen A W M van der Laak Annette Schenck

J Vis Exp 2017 05 3(123). Epub 2017 May 3.

Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center;

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http://dx.doi.org/10.3791/55395DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5607876PMC
May 2017

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.

Authors:
Holly A F Stessman Bo Xiong Bradley P Coe Tianyun Wang Kendra Hoekzema Michaela Fenckova Malin Kvarnung Jennifer Gerdts Sandy Trinh Nele Cosemans Laura Vives Janice Lin Tychele N Turner Gijs Santen Claudia Ruivenkamp Marjolein Kriek Arie van Haeringen Emmelien Aten Kathryn Friend Jan Liebelt Christopher Barnett Eric Haan Marie Shaw Jozef Gecz Britt-Marie Anderlid Ann Nordgren Anna Lindstrand Charles Schwartz R Frank Kooy Geert Vandeweyer Celine Helsmoortel Corrado Romano Antonino Alberti Mirella Vinci Emanuela Avola Stefania Giusto Eric Courchesne Tiziano Pramparo Karen Pierce Srinivasa Nalabolu David G Amaral Ingrid E Scheffer Martin B Delatycki Paul J Lockhart Fereydoun Hormozdiari Benjamin Harich Anna Castells-Nobau Kun Xia Hilde Peeters Magnus Nordenskjöld Annette Schenck Raphael A Bernier Evan E Eichler

Nat Genet 2017 Apr 13;49(4):515-526. Epub 2017 Feb 13.

Department of Genome Sciences, University of Washington, Seattle, Washington, USA.

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http://dx.doi.org/10.1038/ng.3792DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5374041PMC
April 2017

A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy.

Authors:
Celia Zazo Seco Anna Castells-Nobau Seol-Hee Joo Margit Schraders Jia Nee Foo Monique van der Voet S Sendhil Velan Bonnie Nijhof Jaap Oostrik Erik de Vrieze Radoslaw Katana Atika Mansoor Martijn Huynen Radek Szklarczyk Martin Oti Lisbeth Tranebjærg Erwin van Wijk Jolanda M Scheffer-de Gooyert Saadat Siddique Jonathan Baets Peter de Jonghe Syed Ali Raza Kazmi Suresh Anand Sadananthan Bart P van de Warrenburg Chiea Chuen Khor Martin C Göpfert Raheel Qamar Annette Schenck Hannie Kremer Saima Siddiqi

Dis Model Mech 2017 02 15;10(2):105-118. Epub 2016 Dec 15.

Institute of Biomedical and Genetic Engineering (IBGE), Islamabad 44000, Pakistan.

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http://dx.doi.org/10.1242/dmm.026476DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5312003PMC
February 2017

De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila.

Authors:
Dorien Lugtenberg Margot R F Reijnders Michaela Fenckova Emilia K Bijlsma Raphael Bernier Bregje W M van Bon Eric Smeets Anneke T Vulto-van Silfhout Danielle Bosch Evan E Eichler Heather C Mefford Gemma L Carvill Ernie M H F Bongers Janneke Hm Schuurs-Hoeijmakers Claudia A Ruivenkamp Gijs W E Santen Arn M J M van den Maagdenberg Cacha M P C D Peeters-Scholte Sabine Kuenen Patrik Verstreken Rolph Pfundt Helger G Yntema Petra F de Vries Joris A Veltman Alexander Hoischen Christian Gilissen Bert B A de Vries Annette Schenck Tjitske Kleefstra Lisenka E L M Vissers

Eur J Hum Genet 2016 08 13;24(8):1145-53. Epub 2016 Jan 13.

Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2015.282DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4970694PMC
August 2016

BOD1 Is Required for Cognitive Function in Humans and Drosophila.

Authors:
Sahar Esmaeeli-Nieh Michaela Fenckova Iain M Porter M Mahdi Motazacker Bonnie Nijhof Anna Castells-Nobau Zoltan Asztalos Robert Weißmann Farkhondeh Behjati Andreas Tzschach Ute Felbor Harry Scherthan Seyed Morteza Sayfati H Hilger Ropers Kimia Kahrizi Hossein Najmabadi Jason R Swedlow Annette Schenck Andreas W Kuss

PLoS Genet 2016 05 11;12(5):e1006022. Epub 2016 May 11.

Department of Human Genetics, University Medicine Greifswald and Interfaculty Institute of Genetics and Functional Genomics, University of Greifswald, Greifswald, Germany.

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http://dx.doi.org/10.1371/journal.pgen.1006022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4864283PMC
May 2016

Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders.

Authors:
Holly A F Stessman Marjolein H Willemsen Michaela Fenckova Osnat Penn Alexander Hoischen Bo Xiong Tianyun Wang Kendra Hoekzema Laura Vives Ida Vogel Han G Brunner Ineke van der Burgt Charlotte W Ockeloen Janneke H Schuurs-Hoeijmakers Jolien S Klein Wassink-Ruiter Connie Stumpel Servi J C Stevens Hans S Vles Carlo M Marcelis Hans van Bokhoven Vincent Cantagrel Laurence Colleaux Michael Nicouleau Stanislas Lyonnet Raphael A Bernier Jennifer Gerdts Bradley P Coe Corrado Romano Antonino Alberti Lucia Grillo Carmela Scuderi Magnus Nordenskjöld Malin Kvarnung Hui Guo Kun Xia Amélie Piton Bénédicte Gerard David Genevieve Bruno Delobel Daphne Lehalle Laurence Perrin Fabienne Prieur Julien Thevenon Jozef Gecz Marie Shaw Rolph Pfundt Boris Keren Aurelia Jacquette Annette Schenck Evan E Eichler Tjitske Kleefstra

Am J Hum Genet 2016 Mar;98(3):541-552

Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.

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http://dx.doi.org/10.1016/j.ajhg.2016.02.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4890241PMC
March 2016

A New Fiji-Based Algorithm That Systematically Quantifies Nine Synaptic Parameters Provides Insights into Drosophila NMJ Morphometry.

Authors:
Bonnie Nijhof Anna Castells-Nobau Louis Wolf Jolanda M Scheffer-de Gooyert Ignacio Monedero Laura Torroja Lluis Coromina Jeroen A W M van der Laak Annette Schenck

PLoS Comput Biol 2016 Mar 21;12(3):e1004823. Epub 2016 Mar 21.

Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.

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http://dx.doi.org/10.1371/journal.pcbi.1004823DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4801422PMC
March 2016

Systematic Phenomics Analysis Deconvolutes Genes Mutated in Intellectual Disability into Biologically Coherent Modules.

Authors:
Korinna Kochinke Christiane Zweier Bonnie Nijhof Michaela Fenckova Pavel Cizek Frank Honti Shivakumar Keerthikumar Merel A W Oortveld Tjitske Kleefstra Jamie M Kramer Caleb Webber Martijn A Huynen Annette Schenck

Am J Hum Genet 2016 Jan;98(1):149-64

Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, 6525 GA Nijmegen, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.11.024DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4716705PMC
January 2016

Conditional depletion of intellectual disability and Parkinsonism candidate gene ATP6AP2 in fly and mouse induces cognitive impairment and neurodegeneration.

Authors:
Aline Dubos Anna Castells-Nobau Hamid Meziane Merel A W Oortveld Xander Houbaert Giovanni Iacono Christelle Martin Christophe Mittelhaeuser Valérie Lalanne Jamie M Kramer Anuradha Bhukel Christine Quentin Jan Slabbert Patrik Verstreken Stefan J Sigrist Nadia Messaddeq Marie-Christine Birling Mohammed Selloum Henk G Stunnenberg Yann Humeau Annette Schenck Yann Herault

Hum Mol Genet 2015 Dec 16;24(23):6736-55. Epub 2015 Sep 16.

Institut Clinique de la Souris, PHENOMIN, GIE CERBM, 1 rue Laurent Fries, 67404 Illkirch, France, Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France, Centre National de la Recherche Scientifique, UMR7104, Illkirch, France, Institut National de la Santé et de la Recherche Médicale, U964, Illkirch, France and Université de Strasbourg, Illkirch, France

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http://dx.doi.org/10.1093/hmg/ddv380DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4634377PMC
December 2015

Converging evidence does not support GIT1 as an ADHD risk gene.

Authors:
Marieke Klein Monique van der Voet Benjamin Harich Kimm J E van Hulzen A Marten H Onnink Martine Hoogman Tulio Guadalupe Marcel Zwiers Johanne M Groothuismink Alicia Verberkt Bonnie Nijhof Anna Castells-Nobau Stephen V Faraone Jan K Buitelaar Annette Schenck Alejandro Arias-Vasquez Barbara Franke

Am J Med Genet B Neuropsychiatr Genet 2015 Sep 10;168(6):492-507. Epub 2015 Jun 10.

Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.b.32327DOI Listing
September 2015

Mitochondrial diseases: Drosophila melanogaster as a model to evaluate potential therapeutics.

Authors:
Sarah Foriel Peter Willems Jan Smeitink Annette Schenck Julien Beyrath

Int J Biochem Cell Biol 2015 Jun 7;63:60-5. Epub 2015 Feb 7.

Khondrion BV, Nijmegen, The Netherlands. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S13572725150003
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http://dx.doi.org/10.1016/j.biocel.2015.01.024DOI Listing
June 2015

The epigenetic regulator G9a mediates tolerance to RNA virus infection in Drosophila.

Authors:
Sarah H Merkling Alfred W Bronkhorst Jamie M Kramer Gijs J Overheul Annette Schenck Ronald P Van Rij

PLoS Pathog 2015 Apr 16;11(4):e1004692. Epub 2015 Apr 16.

Department of Medical Microbiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1371/journal.ppat.1004692DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4399909PMC
April 2015

Altered GPM6A/M6 dosage impairs cognition and causes phenotypes responsive to cholesterol in human and Drosophila.

Authors:
Anne Gregor Jamie M Kramer Monique van der Voet Ina Schanze Steffen Uebe Rogier Donders André Reis Annette Schenck Christiane Zweier

Hum Mutat 2014 Dec;35(12):1495-505

Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.

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http://dx.doi.org/10.1002/humu.22697DOI Listing
December 2014

Ubiquitin ligase HUWE1 regulates axon branching through the Wnt/β-catenin pathway in a Drosophila model for intellectual disability.

Authors:
Joke Vandewalle Marion Langen Marlen Zschätzsch Marlen Zschaetzsch Bonnie Nijhof Jamie M Kramer Hilde Brems Marijke Bauters Elsa Lauwers Mohammed Srahna Peter Marynen Patrik Verstreken Annette Schenck Bassem A Hassan Guy Froyen

PLoS One 2013 26;8(11):e81791. Epub 2013 Nov 26.

Human Genome Laboratory, VIB Center for the Biology of Disease, Leuven, Belgium ; Human Genome Laboratory, Department of Human Genetics, KU Leuven, Leuven, Belgium.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0081791PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3841167PMC
October 2014

Drosophila models of early onset cognitive disorders and their clinical applications.

Authors:
Monique van der Voet Bonnie Nijhof Merel A W Oortveld Annette Schenck

Neurosci Biobehav Rev 2014 Oct 21;46 Pt 2:326-42. Epub 2014 Mar 21.

Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Nijmegen, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.neubiorev.2014.01.013DOI Listing
October 2014

Genome sequencing identifies major causes of severe intellectual disability.

Authors:
Christian Gilissen Jayne Y Hehir-Kwa Djie Tjwan Thung Maartje van de Vorst Bregje W M van Bon Marjolein H Willemsen Michael Kwint Irene M Janssen Alexander Hoischen Annette Schenck Richard Leach Robert Klein Rick Tearle Tan Bo Rolph Pfundt Helger G Yntema Bert B A de Vries Tjitske Kleefstra Han G Brunner Lisenka E L M Vissers Joris A Veltman

Nature 2014 Jul 4;511(7509):344-7. Epub 2014 Jun 4.

1] Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Centre for Neuroscience, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA Nijmegen, the Netherlands [2] Department of Clinical Genetics, Maastricht University Medical Centre. Universiteitssingel 50, 6229 ER Maastricht, the Netherlands [3].

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http://dx.doi.org/10.1038/nature13394DOI Listing
July 2014

The genetics of cognitive epigenetics.

Authors:
Tjitske Kleefstra Annette Schenck Jamie M Kramer Hans van Bokhoven

Neuropharmacology 2014 May 13;80:83-94. Epub 2014 Jan 13.

Radboud University Medical Center, Department of Human Genetics, Nijmegen Center for Molecular Life Sciences (NCMLS), Nijmegen, The Netherlands; Radboud University Medical Center, Department of Cognitive Neurosciences, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.neuropharm.2013.12.025DOI Listing
May 2014

Restoring polyamines protects from age-induced memory impairment in an autophagy-dependent manner.

Authors:
Varun K Gupta Lisa Scheunemann Tobias Eisenberg Sara Mertel Anuradha Bhukel Tom S Koemans Jamie M Kramer Karen S Y Liu Sabrina Schroeder Hendrik G Stunnenberg Frank Sinner Christoph Magnes Thomas R Pieber Shubham Dipt André Fiala Annette Schenck Martin Schwaerzel Frank Madeo Stephan J Sigrist

Nat Neurosci 2013 Oct 1;16(10):1453-60. Epub 2013 Sep 1.

1] Institute for Biology/Genetics, Freie Universität Berlin, Berlin, Germany. [2] NeuroCure, Charité, Berlin, Germany.

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https://is.muni.cz/el/1431/podzim2013/Bi7630/um/Kunc_starnut
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http://search.proquest.com/openview/75b06d70fa013e185ad9feed
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http://dx.doi.org/10.1038/nn.3512DOI Listing
October 2013

Human intellectual disability genes form conserved functional modules in Drosophila.

Authors:
Merel A W Oortveld Shivakumar Keerthikumar Martin Oti Bonnie Nijhof Ana Clara Fernandes Korinna Kochinke Anna Castells-Nobau Eva van Engelen Thijs Ellenkamp Lilian Eshuis Anne Galy Hans van Bokhoven Bianca Habermann Han G Brunner Christiane Zweier Patrik Verstreken Martijn A Huynen Annette Schenck

PLoS Genet 2013 Oct 31;9(10):e1003911. Epub 2013 Oct 31.

Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1371/journal.pgen.1003911DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3814316PMC
October 2013

CEP89 is required for mitochondrial metabolism and neuronal function in man and fly.

Authors:
Bregje W M van Bon Merel A W Oortveld Leo G Nijtmans Michaela Fenckova Bonnie Nijhof Judith Besseling Melissa Vos Jamie M Kramer Nicole de Leeuw Anna Castells-Nobau Lenke Asztalos Erika Viragh Mariken Ruiter Falko Hofmann Lillian Eshuis Licio Collavin Martijn A Huynen Zoltan Asztalos Patrik Verstreken Richard J Rodenburg Jan A Smeitink Bert B A de Vries Annette Schenck

Hum Mol Genet 2013 Aug 10;22(15):3138-51. Epub 2013 Apr 10.

Department of Human Genetics, Radboud University Medical Centre, 6500 HB, Nijmegen, The Netherlands.

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http://www.hmg.oxfordjournals.org/cgi/doi/10.1093/hmg/ddt170
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August 2013

GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in Drosophila.

Authors:
Marjolein H Willemsen Bonnie Nijhof Michaela Fenckova Willy M Nillesen Ernie M H F Bongers Anna Castells-Nobau Lenke Asztalos Erika Viragh Bregje W M van Bon Emre Tezel Joris A Veltman Han G Brunner Bert B A de Vries Joep de Ligt Helger G Yntema Hans van Bokhoven Bertrand Isidor Cédric Le Caignec Elsa Lorino Zoltan Asztalos David A Koolen Lisenka E L M Vissers Annette Schenck Tjitske Kleefstra

J Med Genet 2013 Aug 4;50(8):507-14. Epub 2013 May 4.

Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands.

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http://jmg.bmj.com/cgi/doi/10.1136/jmedgenet-2012-101490
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August 2013

Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders.

Authors:
Zafar Iqbal Geert Vandeweyer Monique van der Voet Ali Muhammad Waryah Muhammad Yasir Zahoor Judith A Besseling Laura Tomas Roca Anneke T Vulto-van Silfhout Bonnie Nijhof Jamie M Kramer Nathalie Van der Aa Muhammad Ansar Hilde Peeters Céline Helsmoortel Christian Gilissen Lisenka E L M Vissers Joris A Veltman Arjan P M de Brouwer R Frank Kooy Sheikh Riazuddin Annette Schenck Hans van Bokhoven Liesbeth Rooms

Hum Mol Genet 2013 May 5;22(10):1960-70. Epub 2013 Feb 5.

Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Donders Institute for Brain, Cognitionand Behaviour, Radboud University Medical Centre, Nijmegen, TheNetherlands.

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May 2013

Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia.

Authors:
Janneke H M Schuurs-Hoeijmakers Michael T Geraghty Erik-Jan Kamsteeg Salma Ben-Salem Susanne T de Bot Bonnie Nijhof Ilse I G M van de Vondervoort Marinette van der Graaf Anna Castells Nobau Irene Otte-Höller Sascha Vermeer Amanda C Smith Peter Humphreys Jeremy Schwartzentruber Bassam R Ali Saeed A Al-Yahyaee Said Tariq Thachillath Pramathan Riad Bayoumi Hubertus P H Kremer Bart P van de Warrenburg Willem M R van den Akker Christian Gilissen Joris A Veltman Irene M Janssen Anneke T Vulto-van Silfhout Saskia van der Velde-Visser Dirk J Lefeber Adinda Diekstra Corrie E Erasmus Michèl A Willemsen Lisenka E L M Vissers Martin Lammens Hans van Bokhoven Han G Brunner Ron A Wevers Annette Schenck Lihadh Al-Gazali Bert B A de Vries Arjan P M de Brouwer

Am J Hum Genet 2012 Dec 21;91(6):1073-81. Epub 2012 Nov 21.

Department of Human Genetics 855, Radboud University Nijmegen Medical Centre, PO box 9101, 6500 HB Nijmegen, The Netherlands.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3516595PMC
December 2012

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.

Authors:
Anita Rauch Dagmar Wieczorek Elisabeth Graf Thomas Wieland Sabine Endele Thomas Schwarzmayr Beate Albrecht Deborah Bartholdi Jasmin Beygo Nataliya Di Donato Andreas Dufke Kirsten Cremer Maja Hempel Denise Horn Juliane Hoyer Pascal Joset Albrecht Röpke Ute Moog Angelika Riess Christian T Thiel Andreas Tzschach Antje Wiesener Eva Wohlleber Christiane Zweier Arif B Ekici Alexander M Zink Andreas Rump Christa Meisinger Harald Grallert Heinrich Sticht Annette Schenck Hartmut Engels Gudrun Rappold Evelin Schröck Peter Wieacker Olaf Riess Thomas Meitinger André Reis Tim M Strom

Lancet 2012 Nov 27;380(9854):1674-82. Epub 2012 Sep 27.

Institute of Medical Genetics, University of Zurich, Schwerzenbach-Zurich, Switzerland.

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November 2012

Analysis of adhesion molecules and basement membrane contributions to synaptic adhesion at the Drosophila embryonic NMJ.

Authors:
Andre Koper Annette Schenck Andreas Prokop

PLoS One 2012 30;7(4):e36339. Epub 2012 Apr 30.

Faculty of Life Sciences, Wellcome Trust Centre for Cell-Matrix Research, Manchester, United Kingdom.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3340374PMC
September 2012

Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability.

Authors:
Tjitske Kleefstra Jamie M Kramer Kornelia Neveling Marjolein H Willemsen Tom S Koemans Lisenka E L M Vissers Willemijn Wissink-Lindhout Michaela Fenckova Willem M R van den Akker Nael Nadif Kasri Willy M Nillesen Trine Prescott Robin D Clark Koenraad Devriendt Jeroen van Reeuwijk Arjan P M de Brouwer Christian Gilissen Huiqing Zhou Han G Brunner Joris A Veltman Annette Schenck Hans van Bokhoven

Am J Hum Genet 2012 Jul 21;91(1):73-82. Epub 2012 Jun 21.

Department of Human Genetics, Radboud University Nijmegen Medical Centre, The Netherlands.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3397275PMC
July 2012

Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome.

Authors:
David A Koolen Jamie M Kramer Kornelia Neveling Willy M Nillesen Heather L Moore-Barton Frances V Elmslie Annick Toutain Jeanne Amiel Valérie Malan Anne Chun-Hui Tsai Sau Wai Cheung Christian Gilissen Eugene T P Verwiel Sarah Martens Ton Feuth Ernie M H F Bongers Petra de Vries Hans Scheffer Lisenka E L M Vissers Arjan P M de Brouwer Han G Brunner Joris A Veltman Annette Schenck Helger G Yntema Bert B A de Vries

Nat Genet 2012 Apr 29;44(6):639-41. Epub 2012 Apr 29.

Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/ng.2262DOI Listing
April 2012

CYFIP dependent actin remodeling controls specific aspects of Drosophila eye morphogenesis.

Authors:
Anne Galy Annette Schenck H Bahar Sahin Abrar Qurashi José-Alain Sahel Céline Diebold Angela Giangrande

Dev Biol 2011 Nov 22;359(1):37-46. Epub 2011 Aug 22.

Institut de Génétique et de Biologie Moléculaire et Cellulaire, CNRS/INSERM/UDS, BP 10142, 67404 Illkirch, CU de Strasbourg, France. Electronic address:

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November 2011

Epigenetic regulation of learning and memory by Drosophila EHMT/G9a.

Authors:
Jamie M Kramer Korinna Kochinke Merel A W Oortveld Hendrik Marks Daniela Kramer Eiko K de Jong Zoltan Asztalos J Timothy Westwood Hendrik G Stunnenberg Marla B Sokolowski Krystyna Keleman Huiqing Zhou Hans van Bokhoven Annette Schenck

PLoS Biol 2011 Jan 4;9(1):e1000569. Epub 2011 Jan 4.

Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3014924PMC
January 2011

CDK19 is disrupted in a female patient with bilateral congenital retinal folds, microcephaly and mild mental retardation.

Authors:
Arijit Mukhopadhyay Jamie M Kramer Gerard Merkx Dorien Lugtenberg Dominique F Smeets Merel A W Oortveld Ellen A W Blokland Jyoti Agrawal Annette Schenck Hans van Bokhoven Erik Huys Eric F Schoenmakers Ad Geurts van Kessel C Erik van Nouhuys Frans P M Cremers

Hum Genet 2010 Sep 22;128(3):281-91. Epub 2010 Jun 22.

Department of Human Genetics, Radboud University Nijmegen Medical Centre, The Netherlands.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2921488PMC
September 2010

Protein complexes containing CYFIP/Sra/PIR121 coordinate Arf1 and Rac1 signalling during clathrin-AP-1-coated carrier biogenesis at the TGN.

Authors:
Mihaela Anitei Christoph Stange Irina Parshina Thorsten Baust Annette Schenck Graça Raposo Tomas Kirchhausen Bernard Hoflack

Nat Cell Biol 2010 Apr 14;12(4):330-40. Epub 2010 Mar 14.

Biotechnology Center, Dresden University of Technology, Tatzberg 47-51, 01307 Dresden, Germany.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3241509PMC
April 2010

CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila.

Authors:
Christiane Zweier Eiko K de Jong Markus Zweier Alfredo Orrico Lilian B Ousager Amanda L Collins Emilia K Bijlsma Merel A W Oortveld Arif B Ekici André Reis Annette Schenck Anita Rauch

Am J Hum Genet 2009 Nov 5;85(5):655-66. Epub 2009 Nov 5.

Institute of Human Genetics, Friedrich Alexander University Erlangen-Nuremberg, 91054 Erlangen, Germany.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2775834PMC
November 2009

SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway.

Authors:
Simon T Cliffe Jamie M Kramer Khalid Hussain Joris H Robben Eiko K de Jong Arjan P de Brouwer Esther Nibbeling Erik-Jan Kamsteeg Melanie Wong Julie Prendiville Chela James Raja Padidela Charlie Becknell Hans van Bokhoven Peter M T Deen Raoul C M Hennekam Robert Lindeman Annette Schenck Tony Roscioli Michael F Buckley

Hum Mol Genet 2009 Jun 31;18(12):2257-65. Epub 2009 Mar 31.

Department of Haematology and Genetics, South Eastern Area Laboratory Services, Sydney, NSW 2031, Australia.

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http://dx.doi.org/10.1093/hmg/ddp161DOI Listing
June 2009

The endosomal protein Appl1 mediates Akt substrate specificity and cell survival in vertebrate development.

Authors:
Annette Schenck Livia Goto-Silva Claudio Collinet Muriel Rhinn Angelika Giner Bianca Habermann Michael Brand Marino Zerial

Cell 2008 May;133(3):486-97

Max Planck Institute of Molecular Cell Biology and Genetics, Pfotenhauerstrasse 108, 01307 Dresden, Germany.

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May 2008

HSPC300 and its role in neuronal connectivity.

Authors:
Abrar Qurashi H Bahar Sahin Pilar Carrera Alexis Gautreau Annette Schenck Angela Giangrande

Neural Dev 2007 Sep 25;2:18. Epub 2007 Sep 25.

Institut de Génétique et de Biologie Moléculaire et Cellulaire, CNRS/INSERM/ULP, BP 10142, 67404 Illkirch, CU de Strasbourg, France.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2098765PMC
September 2007

Phosphorylation of WAVE1 regulates actin polymerization and dendritic spine morphology.

Authors:
Yong Kim Jee Young Sung Ilaria Ceglia Ko-Woon Lee Jung-Hyuck Ahn Jonathan M Halford Amie M Kim Seung P Kwak Jong Bae Park Sung Ho Ryu Annette Schenck Barbara Bardoni John D Scott Angus C Nairn Paul Greengard

Nature 2006 Aug 16;442(7104):814-7. Epub 2006 Jul 16.

Laboratory of Molecular and Cellular Neuroscience, The Rockefeller University, 1230 York Avenue, New York, New York 10021, USA.

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August 2006

FMRP interferes with the Rac1 pathway and controls actin cytoskeleton dynamics in murine fibroblasts.

Authors:
Marie Castets Céline Schaeffer Elias Bechara Annette Schenck Edward W Khandjian Sylvie Luche Hervé Moine Thierry Rabilloud Jean-Louis Mandel Barbara Bardoni

Hum Mol Genet 2005 Mar 9;14(6):835-44. Epub 2005 Feb 9.

Institut de Génétique et de Biologie Moléculaire et Cellulaire, CNRS/INSERM/ULP/Collège de France.

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http://dx.doi.org/10.1093/hmg/ddi077DOI Listing
March 2005

WAVE/SCAR, a multifunctional complex coordinating different aspects of neuronal connectivity.

Authors:
Annette Schenck Abrar Qurashi Pilar Carrera Barbara Bardoni Céline Diebold Eyal Schejter Jean-Louis Mandel Angela Giangrande

Dev Biol 2004 Oct;274(2):260-70

Department of Developmental Biology, Institut de Génétique et de Biologie Moléculaire et Cellulaire, CNRS/INSERM/ULP, B.P. 10142, 67404 Illkirch Cedex, C.U. de Strasbourg, France.

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October 2004

CYFIP2 is highly abundant in CD4+ cells from multiple sclerosis patients and is involved in T cell adhesion.

Authors:
Michael Mayne Teri Moffatt Hong Kong Paul J McLaren Keith R Fowke Kevin G Becker Mike Namaka Annette Schenck Barbara Bardoni Charles N Bernstein Maria Melanson

Eur J Immunol 2004 Apr;34(4):1217-27

Department of Pharmacology and Therapeutics, University of Manitoba, Division of Neuroscience, St. Boniface Hospital Research Centre, Winnipeg, Canada.

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http://dx.doi.org/10.1002/eji.200324726DOI Listing
April 2004

NUFIP1 (nuclear FMRP interacting protein 1) is a nucleocytoplasmic shuttling protein associated with active synaptoneurosomes.

Authors:
Barbara Bardoni Rob Willemsen Ivan Jeanne Weiler Annette Schenck Lies-Anne Severijnen Colette Hindelang Enzo Lalli Jean-Louis Mandel

Exp Cell Res 2003 Sep;289(1):95-107

Institut de Génétique et de Biologie Moléculaire et Cellulaire, CNRS/INSERM/ULP, BP 10142, 67404 Illkirch, C.U. de Strasbourg, France.

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http://dx.doi.org/10.1016/s0014-4827(03)00222-2DOI Listing
September 2003

82-FIP, a novel FMRP (fragile X mental retardation protein) interacting protein, shows a cell cycle-dependent intracellular localization.

Authors:
Barbara Bardoni Marie Castets Marc-Etienne Huot Annette Schenck Salvatore Adinolfi François Corbin Annalisa Pastore Edouard W Khandjian Jean-Louis Mandel

Hum Mol Genet 2003 Jul;12(14):1689-98

Institut de Génétique et de Biologie Moléculaire et Cellulaire, CNRS/INSERM/ULP, BP 10142, 1 rue Laurent Fries, 67404 Illkirch Cedex, France.

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http://dx.doi.org/10.1093/hmg/ddg181DOI Listing
July 2003

CYFIP/Sra-1 controls neuronal connectivity in Drosophila and links the Rac1 GTPase pathway to the fragile X protein.

Authors:
Annette Schenck Barbara Bardoni Caillin Langmann Nicholas Harden Jean Louis Mandel Angela Giangrande

Neuron 2003 Jun;38(6):887-98

Department of Molecular Pathology, Institut de Génétique et de Biologie Moléculaire et Cellulaire, CNRS/INSERM/ULP, Boite Postale 10142, 67404 Illkirch, Cedex, France.

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http://dx.doi.org/10.1016/s0896-6273(03)00354-4DOI Listing
June 2003

Transcriptional regulation of glial cell specification.

Authors:
Gianluca Ragone Véronique Van De Bor Sandro Sorrentino Martial Kammerer Anne Galy Annette Schenck Roberto Bernardoni Alita A Miller Nivedita Roy Angela Giangrande

Dev Biol 2003 Mar;255(1):138-50

Institut de Génétique et Biologie Moléculaire et Cellulaire, IGBMC/CNRS/ULP/INSERM - BP 10142 67404 Illkirch, c.u., de Strasbourg, France.

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http://dx.doi.org/10.1016/s0012-1606(02)00081-7DOI Listing
March 2003

Novel features of dFMR1, the Drosophila orthologue of the fragile X mental retardation protein.

Authors:
Annette Schenck Veronique Van de Bor Barbara Bardoni Angela Giangrande

Neurobiol Dis 2002 Oct;11(1):53-63

Institut de Génétique et de Biologie Moléculaire et Cellulaire, CNRS/INSERM/ULP, B.P.163, 67404 Illkirch Cedex, C.U. de Strasbourg, France.

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http://dx.doi.org/10.1006/nbdi.2002.0510DOI Listing
October 2002