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2022

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Mirella Telles Salgueiro Barboni, Anneka Joachimsthaler, Michel Roux, Zoltán Zsolt Nagy, Dora Fix Ventura, et al.. Retinal dystrophins and the retinopathy of Duchenne muscular dystrophy. Progress in Retinal and Eye Research, 2022, pp.101137. ⟨10.1016/j.preteyeres.2022.101137⟩. ⟨hal-03863265⟩

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César García-Cruz, Jorge Aragón, Sophie Lourdel, Ahrmad Annan, Jérôme E Roger, et al.. Tissue- and cell-specific whole-transcriptome meta-analysis from brain and retina reveals differential expression of dystrophin complexes and new dystrophin spliced isoforms. Human Molecular Genetics, 2022, ⟨10.1093/hmg/ddac236⟩. ⟨hal-03839794⟩

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Fanny Joly, Pauline Jeckel, Martin Kriebel, Sanket Raut, Nicole El Massioui, et al.. Disruption of Amygdala Tsc2 in Adolescence Leads to Changed Prelimbic Cellular Activity and Generalized Fear Responses at Adulthood in Rats. Cerebral Cortex, 2022, 32 (20), pp.4619-4639. ⟨10.1093/cercor/bhab506⟩. ⟨hal-03582450⟩

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Karima Relizani, Lucía Echevarría, Faouzi Zarrouki, Cécile Gastaldi, Chloe Dambrune, et al.. Palmitic acid conjugation enhances potency of tricyclo-DNA splice switching oligonucleotides. Nucleic Acids Research, 2022, 50 (1), pp.:17-34. ⟨10.1093/nar/gkab1199⟩. ⟨hal-03476811⟩

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Faouzi Zarrouki, Sébastien Goutal, Ophélie Vacca, Luis Garcia, Nicolas Tournier, et al.. Abnormal Expression of Synaptic and Extrasynaptic GABAA Receptor Subunits in the Dystrophin-Deficient mdx Mouse. International Journal of Molecular Sciences, 2022, 23 (20), pp.12617. ⟨10.3390/ijms232012617⟩. ⟨hal-03839801⟩

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Faouzi Zarrouki, Karima Relizani, Flavien Bizot, Thomas Tensorer, Luis Garcia, et al.. Partial Restoration of Brain Dystrophin and Behavioral Deficits by Exon Skipping in the Muscular Dystrophy X‐Linked ( mdx ) Mouse. Annals of Neurology, 2022, 92 (2), pp.213-229. ⟨10.1002/ana.26409⟩. ⟨hal-03713396⟩

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2021

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Mirella Telles Salgueiro Barboni, André Maurício Passos Liber, Anneka Joachimsthaler, Amel Saoudi, Aurelie Goyenvalle, et al.. Altered visual processing in the mdx52 mouse model of Duchenne muscular dystrophy. Neurobiology of Disease, 2021, 152, pp.105288. ⟨10.1016/j.nbd.2021.105288⟩. ⟨hal-03196031⟩

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Mehdi Belmaati Cherkaoui, Ophélie Vacca, Charlotte Izabelle, Anne‐cécile Boulay, Claire Boulogne, et al.. Dp71 contribution to the molecular scaffold anchoring aquaporine‐4 channels in brain macroglial cells. Glia, 2021, 69 (4), pp.954-970. ⟨10.1002/glia.23941⟩. ⟨hal-03035498⟩

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Amel Saoudi, Faouzi Zarrouki, Catherine Sebrié, Charlotte Izabelle, Aureĺie Goyenvalle, et al.. Emotional behavior and brain anatomy of the mdx52 mouse model of Duchenne muscular dystrophy. Disease Models & Mechanisms, 2021, 14 (9), pp.dmm049028. ⟨10.1242/dmm.049028⟩. ⟨hal-03407894⟩

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2020

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Philippine Aupy, Faouzi Zarrouki, Quentin Sandro, Cécile Gastaldi, Pierre-Olivier Buclez, et al.. Long-Term Efficacy of AAV9-U7snRNA-Mediated Exon 51 Skipping in mdx52 Mice. Molecular Therapy - Methods and Clinical Development, 2020, 17, pp.1037-1047. ⟨10.1016/j.omtm.2020.04.025⟩. ⟨hal-02912922⟩

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Mirella Telles Salgueiro Barboni, Cyrille Vaillend, Anneka Joachimsthaler, André Maurício Passos Liber, Hanen Khabou, et al.. Rescue of Defective Electroretinographic Responses in Dp71-Null Mice With AAV-Mediated Reexpression of Dp71. Investigative Ophthalmology & Visual Science, 2020, 61 (2), pp.11. ⟨10.1167/iovs.61.2.11⟩. ⟨hal-02520616⟩

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Federica Briatore, Giulia Pregno, Silvia Di Angelantonio, Elena Frola, Maria Egle de Stefano, et al.. Dystroglycan Mediates Clustering of Essential GABAergic Components in Cerebellar Purkinje Cells. Frontiers in Molecular Neuroscience, 2020, 13 (9), pp.164. ⟨10.3389/fnmol.2020.00164⟩. ⟨hal-03009707⟩

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Tuy Nga Brignol, Dominique Mornet, Cecilia Montañez, Dora Fix Ventura, Cyrille Vaillend, et al.. What is the ocular phenotype associated with a single exon 78 deletion in Duchenne muscular dystrophy?. Journal of Human Genetics, 2020, 65 (8), pp.715-716. ⟨10.1038/s10038-020-0755-5⟩. ⟨hal-02640159⟩

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Charlotte Castillon, Laurine Gonzalez, Florence Domenichini, Sandrine Guyon, Kévin da Silva, et al.. The intellectual disability PAK3 R67C mutation impacts cognitive functions and adult hippocampal neurogenesis. Human Molecular Genetics, 2020, 29 (12), pp.1950-1968. ⟨10.1093/hmg/ddz296⟩. ⟨hal-02459269⟩

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Jos G.M. Hendriksen, Mathula Thangarajh, Hermien E Kan, Francesco Muntoni, Dr y Aoki, et al.. 249th ENMC International Workshop: The role of brain dystrophin in muscular dystrophy: Implications for clinical care and translational research, Hoofddorp, The Netherlands, November 29th–December 1st 2019. Neuromuscular Disorders, 2020, 30 (9), pp.782-794. ⟨10.1016/j.nmd.2020.08.357⟩. ⟨hal-03009729⟩

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2019

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Lora L Martucci, Muriel Amar, Rémi Chaussenot, Gabriel Benet, Oscar Bauer, et al.. A multiscale analysis in CD38 −/− mice unveils major prefrontal cortex dysfunctions. FASEB Journal, 2019, 54, pp.fj.201800489R. ⟨10.1096/fj.201800489R⟩. ⟨hal-02111927⟩

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Lora L Martucci, Muriel Amar, Rémi Chaussenot, Gabriel Benet, Oscar Bauer, et al.. A multiscale analysis in CD38 −/− mice unveils major prefrontal cortex dysfunctions. FASEB Journal, 2019, 33 (5), pp.5823-5835. ⟨10.1096/fj.201800489R⟩. ⟨hal-02269129⟩

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Sabrina Souttou, Roza Benabdesselam, Lourdes Siqueiros-Marquez, Madina Sifi, Maha Deliba, et al.. Expression and localization of dystrophins and β-dystroglycan in the hypothalamic supraoptic nuclei of rat from birth to adulthood. Acta Histochemica, 2019, 121 (2), pp.218-226. ⟨10.1016/j.acthis.2018.12.001⟩. ⟨hal-01968724⟩

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2018

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Rémi Chaussenot, Muriel Amar, Philippe Fossier, Cyrille Vaillend. Dp71-Dystrophin Deficiency Alters Prefrontal Cortex Excitation-Inhibition Balance and Executive Functions. Molecular Neurobiology, 2018, ⟨10.1007/s12035-018-1259-6⟩. ⟨hal-01854469⟩

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Romain Helleringer, Delphine Le Verger, Xia Li, Charlotte Izabelle, Rémi Chaussenot, et al.. Cerebellar synapse properties and cerebellum-dependent motor and non-motor performance in Dp71-null mice. Disease Models & Mechanisms, 2018, ⟨10.1242/dmm.033258⟩. ⟨hal-01828161⟩

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2017

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Jorge Aragón, Mayram González-Reyes, José Romo-Yáñez, Ophélie Vacca, Guadalupe Aguilar-González, et al.. Dystrophin Dp71 Isoforms Are Differentially Expressed in the Mouse Brain and Retina: Report of New Alternative Splicing and a Novel Nomenclature for Dp71 Isoforms.. Molecular Neurobiology, 2017, 55 (2), pp.1376-1386. ⟨10.1007/s12035-017-0405-x⟩. ⟨hal-01485065⟩

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Karima Relizani, Graziella Griffith, Lucía Echevarría, Faouzi Zarrouki, Patricia Facchinetti, et al.. Efficacy and Safety Profile of Tricyclo-DNA Antisense Oligonucleotides in Duchenne Muscular Dystrophy Mouse Model. Molecular Therapy - Nucleic Acids, 2017, 8, pp.144-157. ⟨10.1016/j.omtn.2017.06.013⟩. ⟨hal-02407950⟩

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Cyrille Vaillend, Rémi Chaussenot. Relationships linking emotional, motor, cognitive and GABAergic dysfunctions in dystrophin-deficient mdx mice.. Human Molecular Genetics, 2017, 26 (6), pp.1041-1055. ⟨10.1093/hmg/ddx013⟩. ⟨hal-01443475⟩

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2016

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Rubén Miranda, Serge Laroche, Cyrille Vaillend. Reduced neuronal density in the CA1 anterodorsal hippocampus of the mdx mouse.. Neuromuscular Disorders, 2016, 26 (11), pp.775-781. ⟨10.1016/j.nmd.2016.08.006⟩. ⟨hal-01366180⟩

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2015

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Rémi Chaussenot, Jean-Marc Edeline, Benoit Le Bec, Nicole El Massioui, Serge Laroche, et al.. Cognitive dysfunction in the dystrophin-deficient mouse model of Duchenne muscular dystrophy: A reappraisal from sensory to executive processes.. Neurobiology of Learning and Memory, 2015, pp.S1074-7427. ⟨10.1016/j.nlm.2015.07.006⟩. ⟨hal-01179087⟩

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Aurélie Goyenvalle, Graziella Griffith, Arran Babbs, Samir El Andaloussi, Kariem Ezzat, et al.. Functional correction in mouse models of muscular dystrophy using exon-skipping tricyclo-DNA oligomers. Nature Medicine, 2015, 21 (3), pp.270-275. ⟨10.1038/nm.3765⟩. ⟨hal-02407968⟩

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Rubén Miranda, Flora Nagapin, Bruno Bozon, Serge Laroche, Thierry Aubin, et al.. Altered social behavior and ultrasonic communication in the dystrophin-deficient mdx mouse model of Duchenne muscular dystrophy.. Molecular Autism, 2015, 6, pp.60. ⟨10.1186/s13229-015-0053-9⟩. ⟨hal-01240336⟩

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2013

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Elise Morice, Séverine Farley, Roseline Poirier, Glenn Dallérac, Carine Chagneau, et al.. Defective synaptic transmission and structure in the dentate gyrus and selective fear memory impairment in the Rsk2 mutant mouse model of Coffin-Lowry syndrome.. Neurobiology of Disease, 2013, 58, pp.156-168. ⟨10.1016/j.nbd.2013.05.016⟩. ⟨hal-00912776⟩

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Sara Vianello, Hua Yu, Vincent Voisin, Hafedh Haddad, Xun He, et al.. Arginine butyrate: a therapeutic candidate for Duchenne muscular dystrophy.. FASEB Journal, 2013, 27 (6), pp.2256-69. ⟨10.1096/fj.12-215723⟩. ⟨hal-00850330⟩

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2012

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Caroline Perronnet, Carine Chagneau, Pascale Le Blanc, Nathalie Samson-Desvignes, Dominique Mornet, et al.. Upregulation of brain utrophin does not rescue behavioral alterations in dystrophin-deficient mice.. Human Molecular Genetics, 2012, 21 (10), pp.2263-76. ⟨10.1093/hmg/dds047⟩. ⟨hal-00733451⟩

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2011

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Glenn Dallérac, Caroline Perronnet, Carine Chagneau, Pascale Leblanc-Veyrac, Nathalie Samson-Desvignes, et al.. Rescue of a dystrophin-like protein by exon skipping normalizes synaptic plasticity in the hippocampus of the mdx mouse. Neurobiology of Disease, 2011, 43 (3), pp.635-641. ⟨10.1016/j.nbd.2011.05.012⟩. ⟨hal-02325193⟩

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Ruben Miranda, Uri Nudel, Serge Laroche, Cyrille Vaillend. Altered presynaptic ultrastructure in excitatory hippocampal synapses of mice lacking dystrophins Dp427 or Dp71.. Neurobiology of Disease, 2011, 43, pp.134-141. ⟨10.1016/j.nbd.2011.02.017⟩. ⟨hal-00719010⟩

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2010

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Cyrille Vaillend, Caroline Perronnet, Carine Ros, Carole Gruszczynski, Aurélie Goyenvalle, et al.. Rescue of a dystrophin-like protein by exon skipping in vivo restores GABAA-receptor clustering in the hippocampus of the mdx mouse.. Molecular Therapy, 2010, 18 (9), pp.1683-8. ⟨10.1038/mt.2010.134⟩. ⟨hal-01183355⟩

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Chapitre d'ouvrage

2019

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Cyrille Vaillend, Faouzi Zarrouki, Ophélie Vacca. Gene Therapy for Central Nervous System in Duchenne Muscular Dystrophy. Muscle Gene Therapy, Springer International Publishing, pp.417-438, 2019, 978-3-030-03094-0. ⟨10.1007/978-3-030-03095-7_24⟩. ⟨hal-02192778⟩

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