Agnes Rastetter

Agnes Rastetter

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Agnes Rastetter

Agnes Rastetter

Publications by authors named "Agnes Rastetter"

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19Publications

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PAK3 mutations responsible for severe intellectual disability and callosal agenesis inhibit cell migration.

Neurobiol Dis 2020 Mar 14;136:104709. Epub 2019 Dec 14.

Department of Cognition and Behavior, Paris-Saclay Institute of Neuroscience (Neuro-PSI CNRS, UMR 9197), Paris-Sud and Paris-Saclay Universities, Orsay, France. Electronic address:

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http://dx.doi.org/10.1016/j.nbd.2019.104709DOI Listing
March 2020

Targeted versus untargeted omics - the CAFSA story.

J Inherit Metab Dis 2018 05 8;41(3):447-456. Epub 2018 Feb 8.

Université Pierre et Marie Curie, Groupe de Recherche Clinique Neurométabolique et Centre de Référence Neurométabolique Adulte, Paris, France.

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http://dx.doi.org/10.1007/s10545-017-0134-3DOI Listing
May 2018

ARID1B mutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability.

Brain 2016 11;139(11):e64

Assistance Publique-Hôpitaux de Paris, Département de Génétique and Centre de Référence Déficiences Intellectuelles de Causes Rares and GRC UPMC "Déficiences Intellectuelles et Autisme", Groupe Hospitalier Pitié-Salpêtrière, Paris, France.

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http://dx.doi.org/10.1093/brain/aww181DOI Listing
November 2016

Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments.

PLoS Genet 2014 Sep 4;10(9):e1004580. Epub 2014 Sep 4.

Institut Pasteur, Human Genetics and Cognitive Functions Unit, Paris, France; CNRS UMR 3571 Genes, Synapses and Cognition, Institut Pasteur, Paris, France; University Paris Diderot, Sorbonne Paris Cité, Human Genetics and Cognitive Functions, Paris, France; FondaMental Foundation, Créteil, France.

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http://dx.doi.org/10.1371/journal.pgen.1004580DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4154644PMC
September 2014

Annonacin, a natural lipophilic mitochondrial complex I inhibitor, increases phosphorylation of tau in the brain of FTDP-17 transgenic mice.

Exp Neurol 2014 Mar 3;253:113-25. Epub 2014 Jan 3.

Experimental Neurology, Philipps University, D-35037 Marburg, Germany; German Center for Neurodegenerative Diseases (DZNE), D-81677 Munich, Germany; Department of Neurology, Technical University Munich, D-81377 Munich, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.expneurol.2013.12.017DOI Listing
March 2014

Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.

Eur J Hum Genet 2014 Jan 1;22(1):71-8. Epub 2013 May 1.

1] INSERM, U975 (CRICM), Institut du cerveau et de la moelle épinière (ICM), Hôpital Pitié-Salpêtrière, Paris, France [2] CNRS 7225 (CRICM), Hôpital Pitié-Salpêtrière, Paris, France [3] Université Pierre et Marie Curie-Paris-6 (UPMC), UMR_S 975, Paris, France [4] AP-HP, Hôpital Pitié-Salpêtrière, Département de Génétique et de Cytogénétique, Unité fonctionnelle de génétique clinique, Paris, France [5] AP-HP, Hôpital Pitié-Salpêtrière, Département de Génétique et de Cytogénétique, Unité fonctionnelle de neurogénétique moléculaire et cellulaire, Paris, France.

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http://dx.doi.org/10.1038/ejhg.2013.88DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3865413PMC
January 2014

Reversible generalized dystonia and encephalopathy from thiamine transporter 2 deficiency.

Mov Disord 2012 Sep 6;27(10):1295-8. Epub 2012 Jul 6.

Child Neurology and Radiology Departments, Hospital Sant Joan de Déu, Barcelona, Spain.

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http://dx.doi.org/10.1002/mds.25008DOI Listing
September 2012

Cellular distribution and subcellular localization of spatacsin and spastizin, two proteins involved in hereditary spastic paraplegia.

Mol Cell Neurosci 2011 Jul 27;47(3):191-202. Epub 2011 Apr 27.

INSERM, U975, Université Pierre et Marie Curie-Paris 6, UMR_S975, Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière (CR-icm), GHU Pitié-Salpêtrière, CNRS, Paris, France.

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http://dx.doi.org/10.1016/j.mcn.2011.04.004DOI Listing
July 2011

Biotin-responsive basal ganglia disease in ethnic Europeans with novel SLC19A3 mutations.

Arch Neurol 2010 Jan;67(1):126-30

Federation of Nervous System Diseases, Assistance Publique-Hôpitaux de Paris, Hôpital de la Salpêtrière, Université Pierre et Marie Curie, Paris CEDEX 13, France.

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http://dx.doi.org/10.1001/archneurol.2009.293DOI Listing
January 2010