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Comorbid Analysis of Neurodevelopmental Disorders and Epilepsy

Deliverables

Report on developmental trajectories in NRNX1 and SHANK3 genetic mouse models

Report on developmental trajectories of comorbidity phenotype expression in NRNX1 and SHANK3 genetic mouse models

Communication toolbox

Publications

Investigating the Gut Microbiota Composition of Individuals with Attention-Deficit/Hyperactivity Disorder and Association with Symptoms.

Author(s): Joanna Szopinska-Tokov; Sarita Dam; Jilly Naaijen; Prokopis Konstanti; Nanda Rommelse; Clara Belzer; Jan Buitelaar; Barbara Franke; Mirjam Bloemendaal; Esther Aarts; Alejandro Arias Vasquez
Published in: Microorganisms, Issue 3, 2020, ISSN 2076-2607
Publisher: MDPI
DOI: 10.3390/microorganisms8030406

Cerebellar atypicalities in autism?

Author(s): Charles Laidi; Dorothea L. Floris; Julian Tillmann; Yannis Elandaloussi; Mariam Zabihi; Tony Charman; Thomas Wolfers; Sarah Durston; Carolin Moessnang; Flavio Dell’Acqua; Christine Ecker; Eva Loth; Declan Murphy; Simon Baron-Cohen; Jan K. Buitelaar; Andre F. Marquand; Christian F. Beckmann; Vincent Frouin; Marion Leboyer; Edouard Duchesnay; Pierrick Coupé; Josselin Houenou; null Tobias Banasche
Published in: Biological Psychiatry, 92, 674 - 682, Issue 3, 2022, ISSN 0006-3223
Publisher: Elsevier BV
DOI: 10.1016/j.biopsych.2022.05.020

SHANK3 deficiency leads to myelin defects in the central and peripheral nervous system

Author(s): Mariagiovanna Malara; Anne-Kathrin Lutz; Berra Incearap; Helen Friedericke Bauer; Silvia Cursano; Katrin Volbracht; Joanna Janina Lerner; Rakshita Pandey; Jan Philipp Delling; Valentin Ioannidis; Andrea Pérez Arévalo; Jaime Eugenin von Bernhardi; Michael Schön; Jürgen Bockmann; Leda Dimou; Tobias M. Boeckers
Published in: Cell Mol Life Sci, Issue 3, 2022, ISSN 1420-682X
Publisher: Birkhauser Verlag
DOI: 10.1007/s00018-022-04400-4

Coordinated Cortical Thickness Alterations Across Six Neurodevelopmental and Psychiatric Disorders

Author(s): Hettwer MD, Larivière S, Park BY, van den Heuvel OA, Schmaal L, Andreassen OA, Ching CRK, Hoogman M, Buitelaar J, van Rooij D, Veltman DJ, Stein DJ, Franke B, van Erp TGM; ENIGMA ADHD Working Group; ENIGMA Autism Working Group; ENIGMA Bipolar Disorder Working Group; ENIGMA Major Depression Working Group; ENIGMA OCD Working Group; ENIGMA Schizophrenia Working Group; Jahanshad N, Thompson PM, Thomo
Published in: Nat Commun, Issue 2022 Nov 11;13(1), 2022, Page(s) 6851, ISSN 2041-1723
Publisher: Nature Publishing Group
DOI: 10.1038/s41467-022-34367-6

Larger pupil dilation to nonsocial sounds in infants with subsequent autism diagnosis

Author(s): Maja Rudling, Pär Nyström, Sven Bölte, Terje Falck‐Ytter
Published in: Journal of Child Psychology and Psychiatry, 2021, ISSN 0021-9630
Publisher: Blackwell Publishing Inc.
DOI: 10.1111/jcpp.13520

Evaluation of data imputation strategies in complex, deeply-phenotyped data sets: the case of the EU-AIMS Longitudinal European Autism Project.

Author(s): Llera, A; Brammer, M; Oakley, B; Tillmann, J; Zabihi, M; Amelink, J S; Mei, T; Charman, T; Ecker, C; Dell'Acqua, F; Banaschewski, T; Moessnang, C; Baron-Cohen, S; Holt, R; Durston, S; Murphy, D; Loth, E; Buitelaar, J K; Floris, D L; Beckmann, C F
Published in: BMC Med Res Methodol, Issue 3, 2022, ISSN 1471-2288
Publisher: BioMed Central
DOI: 10.1186/s12874-022-01656-z

Spatial and Temporal Gene Function Studies in Rodents: Towards Gene-Based Therapies for Autism Spectrum Disorder

Author(s): Riemersma IW, Havekes R, Kas MJH
Published in: Genes, Issue 2021 Dec 23;13(1), 2021, Page(s) 28, ISSN 2073-4425
Publisher: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/genes13010028

Age-related brain deviations and aggression

Author(s): Holz NE, Floris DL, Llera A, Aggensteiner PM, Kia SM, Wolfers T, Baumeister S, Böttinger B, Glennon JC, Hoekstra PJ, Dietrich A, Saam MC, Schulze UME, Lythgoe DJ, Williams SCR, Santosh P, Rosa-Justicia M, Bargallo N, Castro-Fornieles J, Arango C, Penzol MJ, Walitza S, Meyer-Lindenberg A, Zwiers M, Franke B, Buitelaar J, Naaijen J, Brandeis D, Beckmann C, Banaschewski T, Marquand AF.
Published in: Psychol Med, Issue 2022 Apr 22, 2022, Page(s) 1-10, ISSN 0033-2917
Publisher: Cambridge University Press
DOI: 10.1017/s003329172200068x

Neurobiological Correlates of Change in Adaptive Behavior in Autism

Author(s): Pretzsch CM, Schäfer T, Lombardo MV, Warrier V, Mann C, Bletsch A, Chatham CH, Floris DL, Tillmann J, Yousaf A, Jones E, […] Beckmann CF, Banaschewski T, Durston S, Freitag CM; EU-AIMS LEAP Group; Murphy DGM, Ecker C..
Published in: Am J Psychiatry, Issue 2022 May;179(5), 2022, Page(s) 336-349, ISSN 0002-953X
Publisher: American Psychiatric Publishing, Inc.
DOI: 10.1176/appi.ajp.21070711

What are you looking at? Gaze following with and without target objects in ASD and typical development.

Author(s): Thorup E, Nyström P, Bölte S, Falck-Ytter T
Published in: Autism, Issue 2022 Oct;26(7), 2022, Page(s) 1668-1680, ISSN 1362-3613
Publisher: SAGE Publications
DOI: 10.1177/13623613211061940

Possible Effect of the use of Mesenchymal Stromal Cells in the Treatment of Autism Spectrum Disorders: A Review

Author(s): Tamouza R, Volt F, Richard JR, Wu CL, Bouassida J, Boukouaci W, Lansiaux P, Cappelli B, Scigliuolo GM, Rafii H, Kenzey C, Mezouad E, Naamoune S, Chami L, Lejuste F, Farge D, Gluckman E
Published in: Front Cell Dev Biol., Issue 2022 Jul 5;10, 2022, ISSN 1662-5099
Publisher: Frontiers Research Foundation
DOI: 10.3389/fcell.2022.809686

From mechanisms to markers: novel noninvasive EEG proxy markers of the neural excitation and inhibition system in humans.

Author(s): Ahmad J, Ellis C, Leech R, Voytek B, Garces P, Jones E, Buitelaar J, Loth E, Dos Santos FP, Amil AF, Verschure PFMJ, Murphy D, McAlonan G
Published in: Transl Psychiatry., Issue 2022 Nov 8;12(1):, 2022, Page(s) 467, ISSN 2158-3188
Publisher: Nature Publishing Group
DOI: 10.1038/s41398-022-02218-z

Autism Is Associated With Interindividual Variations of Gray and White Matter Morphology

Author(s): Mei T, Forde NJ, Floris DL, Dell'Acqua F, Stones R, Ilioska I, Durston S, Moessnang C, Banaschewski T, Holt RJ, Baron-Cohen S, Rausch A, Loth E, Oakley B, Charman T, Ecker C, Murphy DGM; EU-AIMS LEAP group; Beckmann CF, Llera A, Buitelaar JK.
Published in: Biol Psychiatry Cogn Neurosci Neuroimaging, Issue 2022 Sep 6:S2451-9022(22), 2022, Page(s) 00212-9, ISSN 2451-9022
Publisher: Elsevier Inc. Al
DOI: 10.1016/j.bpsc.2022.08.011

SHANK3 Antibody Validation: Differential Performance in Western Blotting, Immunocyto- and Immunohistochemistry.

Author(s): Anne-Kathrin Lutz; Helen Friedericke Bauer; Valentin Ioannidis; Michael Schön; Tobias M. Boeckers
Published in: Front Synaptic Neurosci ., Issue 3, 2022, ISSN 1663-3563
Publisher: Frontiers Research Foundation
DOI: 10.3389/fnsyn.2022.890231

Patterns of connectome variability in autism across five functional activation tasks: findings from the LEAP project

Author(s): Looden T, Floris DL, Llera A, Chauvin RJ, Charman T, Banaschewski T, Murphy D, Marquand AF, Buitelaar JK, Beckmann CF; AIMS-2-TRIALS group
Published in: Mol Autism, Issue 2022 Dec 27;13(1), 2022, Page(s) 53, ISSN 2040-2392
Publisher: BioMed Central
DOI: 10.1186/s13229-022-00529

Qualitative differences in the spatiotemporal brain states supporting configural face processing emerge in adolescence in autism

Author(s): Haartsen R, Mason L, Garces P, Gui A, Charman T, Tillmann J, Johnson MH, Buitelaar JK, Loth E, Murphy D, Jones EJH; EU-AIMS LEAP group.
Published in: Cortex, Issue 2022 Oct;155, 2022, Page(s) 13-29, ISSN 0010-9452
Publisher: Masson Publishing
DOI: 10.1016/j.cortex.2022.06.010

Local Molecular and Global Connectomic Contributions to Cross-Disorder Cortical Abnormalities

Author(s): Hansen JY, Shafiei G, Vogel JW, Smart K, Bearden CE, Hoogman M, Franke B, van Rooij D, Buitelaar J, McDonald CR, Sisodiya SM, Schmaal L, Veltman DJ, van den Heuvel OA, Stein DJ, van Erp TGM, Ching CRK, Andreassen OA, Hajek T, Opel N, Modinos G, Aleman A, van der Werf Y, Jahanshad N, Thomopoulos SI, Thompson PM, Carson RE, Dagher A, Misic B.
Published in: Nat Commun, Issue 2022 Aug 10;13(1):, 2022, ISSN 2041-1723
Publisher: Nature Publishing Group
DOI: 10.1038/s41467-022-32420-y

SHANK2 Mutations Result in Dysregulation of the ERK1/2 Pathway in Human Induced Pluripotent Stem Cells-Derived Neurons and Shank2(−/−) Mice

Author(s): Lutz, Anne-Kathrin; Pérez Arévalo, Andrea; Ioannidis, Valentin; Stirmlinger, Nadine; Demestre, Maria; Delorme, Richard; Bourgeron, Thomas; Boeckers, Tobias M.
Published in: Frontiers in Molecular Neuroscience, Issue 3, 2021, ISSN 1662-5099
Publisher: Frontiers Research Foundation
DOI: 10.18725/oparu-40117

Comparison of SHANK3 deficiency in animal models: phenotypes, treatment strategies, and translational implications

Author(s): Delling JP, Boeckers TM
Published in: J Neurodev Disord, Issue 2021 Nov 16;13(1), 2021, Page(s) 55, ISSN 1866-1955
Publisher: Springer Nature
DOI: 10.1186/s11689-021-09397-8

Deletion of the Autism-Associated Protein SHANK3 Abolishes Structural Synaptic Plasticity after Brain Trauma.

Author(s): Urrutia-Ruiz, Carolina; Rombach, Daniel; Cursano, Silvia; Gerlach-Arbeiter, Susanne; Schoen, Michael; Bockmann, Juergen; Demestre, Maria; Boeckers, Tobias M.; Pérez-Mediavilla, Alberto
Published in: International Journal of Molecular Sciences; Volume 23; Issue 11; Pages: 6081, Issue 3, 2022, ISSN 1422-0067
Publisher: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/ijms23116081

Low-grade inflammation as mediator between diet and behavioral disinhibition: A UK Biobank study.

Author(s): Shi H, Schweren LJS, Ter Horst R, Bloemendaal M, van Rooij D, Vasquez AA, Hartman CA, Buitelaar JK
Published in: Brain Behav Immun, Issue 2022 Nov;106, 2022, Page(s) 100-110., ISSN 0889-1591
Publisher: Academic Press
DOI: 10.1016/j.bbi.2022.07.165

Parental Experiences with Early Identification and Initial Care for their Child with Autism: Tailored Improvement Strategies

Author(s): Snijder MIJ, Langerak IPC, Kaijadoe SPT, Buruma ME, Verschuur R, Dietz C, Buitelaar JK, Oosterling IJ. J
Published in: Autism Dev Disord., Issue 2022 Aug;52(8), 2022, ISSN 0162-3257
Publisher: Kluwer Academic/Plenum Publishers
DOI: 10.1007/s10803-021-05226-y

Immune activation during pregnancy exacerbates ASD-related alterations in Shank3-deficient mice.

Author(s): Ekaterina Atanasova; Andrea Pérez Arévalo; Ines Graf; Rong Zhang; Juergen Bockmann; Anne-Kathrin Lutz; Tobias M. Boeckers
Published in: Mol Autism, Issue 1, 2023, ISSN 2040-2392
Publisher: BioMed Central
DOI: 10.1186/s13229-022-00532-3

The Link between Autism and Sex-Related Neuroanatomy, and Associated Cognition and Gene Expression

Author(s): Floris DL, Peng H, Warrier V, Lombardo MV, Pretzsch CM, Moreau C, Tsompanidis A, Gong W, Mennes M, Llera A, van Rooij D, Oldehinkel M, Forde NJ, Charman T, Tillmann J, Banaschewski T, Moessnang C, Durston S, Holt RJ, Ecker C, Dell'Acqua F, Loth E, Bourgeron T, Murphy DGM, Marquand AF, Lai MC, Buitelaar JK, Baron-Cohen S, Beckmann CF; APEX Group; EU-AIMS LEAP Group.
Published in: Am J Psychiatry, Issue 2022 Nov 23, 2022, ISSN 0002-953X
Publisher: American Psychiatric Publishing, Inc.
DOI: 10.1176/appi.ajp.20220194

Shank2/3 double knockout-based screening of cortical subregions links the retrosplenial area to the loss of social memory in autism spectrum disorders.

Author(s): Garrido D, Beretta S, Grabrucker S, Bauer HF, Bayer D, Sala C, Verpelli C, Roselli F, Bockmann J, Proepper C, Catanese A, Boeckers TM.
Published in: Mol Psychiatry, Issue 2022 Dec;27(12), 2022, Page(s) 4994-5006, ISSN 1359-4184
Publisher: Nature Publishing Group
DOI: 10.1038/s41380-022-01756-8

The gut microbiome as mediator between diet and its impact on immune function

Author(s): Shi H, Ter Horst R, Nielen S, Bloemendaal M, Jaeger M, Joosten I, Koenen H, Joosten LAB, Schweren LJS, Vasquez AA, Netea MG, Buitelaar J
Published in: Sci Rep, Issue 2022 Mar 25;12(1), 2022, Page(s) 5149, ISSN 2045-2322
Publisher: Nature Publishing Group
DOI: 10.1038/s41598-022-08544-y

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