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Laura Baroncelli, Stefanie Auel, Lena Rinne, Ann-Kathrin Schuster, Victoria Brand, Belinda Kempkes, Katharina Dietrich & Michael Müller. (2022) Oral Feeding of an Antioxidant Cocktail as a Therapeutic Strategy in a Mouse Model of Rett Syndrome: Merits and Limitations of Long-Term Treatment. Antioxidants 11:7, pages 1406.
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Stephen Shovlin, Chloe Delepine, Lindsay Swanson, Snow Bach, Mustafa Sahin, Mriganka Sur, Walter E. Kaufmann & Daniela Tropea. (2022) Molecular Signatures of Response to Mecasermin in Children With Rett Syndrome. Frontiers in Neuroscience 16.
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Jan-Marino Ramirez, Marlusa Karlen-Amarante, Jia-Der Ju Wang, Alyssa Huff & Nicholas Burgraff. 2022. Respiratory Neurobiology: Physiology and Clinical Disorders, Part II. Respiratory Neurobiology: Physiology and Clinical Disorders, Part II
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Sarika U. Peters, Cary Fu, Eric D. Marsh, Tim A. Benke, Bernard Suter, Steve A. Skinner, David N. Lieberman, Shannon Standridge, Mary Jones, Arthur Beisang, Timothy Feyma, Peter Heydeman, Robin Ryther, Daniel G. Glaze, Alan K. Percy & Jeffrey L. Neul. (2020)
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Audrey Thurm, Bridgette Kelleher & Anne Wheeler. (2020) Outcome Measures for Core Symptoms of Intellectual Disability: State of the Field. American Journal on Intellectual and Developmental Disabilities 125:6, pages 418-433.
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Jan-Marino Ramirez, Marlusa Karlen-Amarante, Jia-Der Ju Wang, Nicholas E. Bush, Michael S. Carroll, Debra E. Weese-Mayer & Alyssa Huff. (2020) The Pathophysiology of Rett Syndrome With a Focus on Breathing Dysfunctions. Physiology 35:6, pages 375-390.
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Lindsay M. Oberman, Jenny Downs, Rina Cianfaglione, Helen Leonard & Walter E. Kaufmann. (2020) Assessment of a Clinical Trial Metric for Rett Syndrome: Critical Analysis of the Rett Syndrome Behaviour Questionnaire. Pediatric Neurology 111, pages 4.
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Conor Keogh, Giorgio Pini, Ilaria Gemo, Walter Kaufmann & Daniela Tropea. (2020) Functional Network Mapping Reveals State-Dependent Response to IGF1 Treatment in Rett Syndrome. Brain Sciences 10:8, pages 515.
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Bruna de Oliveira Costa & Octávio Luiz Franco. (2020) Cryptic Host Defense Peptides: Multifaceted Activity and Prospects for Medicinal Chemistry. Current Topics in Medicinal Chemistry 20:14, pages 1274-1290.
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Elizabeth S. Smith, Dani R. Smith, Charlotte Eyring, Maria Braileanu, Karen S. Smith-Connor, Yew Ei Tan, Amanda Y. Fowler, Gloria E. Hoffman, Michael V. Johnston, Sujatha Kannan & Mary E. Blue. (2019) Altered trajectories of neurodevelopment and behavior in mouse models of Rett syndrome. Neurobiology of Learning and Memory 165, pages 106962.
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Hannes Steinkellner, Anna Schönegger, Julia Etzler, Prakasha Kempaiah, Anna Huber, Kathrin Hahn, Katrin Rose, Mark Duerr, John Christodoulou, Alexander V. Beribisky, Winfried Neuhaus & Franco Laccone. (2019) An electrochemiluminescence based assay for quantitative detection of endogenous and exogenously applied MeCP2 protein variants. Scientific Reports 9:1.
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Abhishek Banerjee, Meghan T Miller, Keji Li, Mriganka Sur & Walter E Kaufmann. (2019) Towards a better diagnosis and treatment of Rett syndrome: a model synaptic disorder. Brain 142:2, pages 239-248.
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Domingo Palacios-Ceña, Pilar Famoso-Pérez, Jaime Salom-Moreno, Pilar Carrasco-Garrido, Jorge Pérez-Corrales, Paula Paras-Bravo & Javier Güeita-Rodriguez. (2018) “Living an Obstacle Course”: A Qualitative Study Examining the Experiences of Caregivers of Children with Rett Syndrome. International Journal of Environmental Research and Public Health 16:1, pages 41.
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Meera E. Modi & Mustafa Sahin. (2018) The Way Forward for Mechanism‐Based Therapeutics in Genetically Defined Neurodevelopmental Disorders. Clinical Pharmacology & Therapeutics 104:4, pages 603-606.
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Maksym V. Kopanitsa, Gemma Gou, Nurudeen O. Afinowi, Àlex Bayés, Seth G.N. Grant & Noboru H. Komiyama. (2018) Chronic treatment with a MEK inhibitor reverses enhanced excitatory field potentials in Syngap1+/− mice. Pharmacological Reports 70:4, pages 777-783.
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Arya Kudalmana & Jianzhong Ji. (2018) Case 2: Term Male Infant with Persistent Apneic Episodes. NeoReviews 19:6, pages e352-e353.
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Heather M. O'Leary, Walter E. Kaufmann, Katherine V. Barnes, Kshitiz Rakesh, Kush Kapur, Daniel C. Tarquinio, Nicole G. Cantwell, Katherine J. Roche, Suzanne A. Rose, Alexandra C. Walco, Natalie M. Bruck, Grace A. Bazin, Ingrid A. Holm, Mark E. Alexander, Lindsay C. Swanson, Lauren M. Baczewski, Juan M. Mayor Torres, Charles A. NelsonIIIIII & Mustafa Sahin. (2018) Placebo-controlled crossover assessment of mecasermin for the treatment of Rett syndrome. Annals of Clinical and Translational Neurology 5:3, pages 323-332.
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Natasha L. Pacheco, Michael R. Heaven, Leanne M. Holt, David K. Crossman, Kristin J. Boggio, Scott A. Shaffer, Daniel L. Flint & Michelle L. Olsen. (2017) RNA sequencing and proteomics approaches reveal novel deficits in the cortex of Mecp2-deficient mice, a model for Rett syndrome. Molecular Autism 8:1.
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Jessica Mackay, Jenny Downs, Kingsley Wong, Jane Heyworth, Amy Epstein & Helen Leonard. (2017) Autonomic breathing abnormalities in Rett syndrome: caregiver perspectives in an international database study. Journal of Neurodevelopmental Disorders 9:1.
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