Breathing disturbances in Rett syndrome
Tài liệu tham khảo
Abdala, 2010, Correction of respiratory disorders in a mouse model of Rett syndrome, Proc Natl Acad Sci U S A, 107, 18208, 10.1073/pnas.1012104107
Abdala, 2014, Effect of Sarizotan, a 5-HT1a and D2-like receptor agonist, on respiration in three mouse models of Rett syndrome, Am J Respir Cell Mol Biol, 50, 1031, 10.1165/rcmb.2013-0372OC
Abdala, 2016, Deficiency of GABAergic synaptic inhibition in the Kölliker-Fuse area underlies respiratory dysrhythmia in a mouse model of Rett syndrome, J Physiol, 594, 223, 10.1113/JP270966
Abraham, 2015, Co-occurrence of dystonic and dyskinetic tongue movements with oral apraxia in post-regression dysphagia in classical Rett syndrome years of life 1 through 5, Dysphagia, 30, 128, 10.1007/s00455-014-9587-9
Adams, 2020, Restoration of motor learning in a mouse model of Rett syndrome following long-term treatment with a novel small-molecule activator of TrkB, Dis Model Mech, 13, 10.1242/dmm.044685
Amaddeo, 2019, Polysomnographic findings in Rett syndrome, Eur J Paediatr Neurol, 23, 214, 10.1016/j.ejpn.2018.09.003
Amir, 1999, Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2, Nat Genet, 23, 185, 10.1038/13810
Ammanuel, 2015, Heightened delta power during slow-wave-sleep in patients with Rett syndrome associated with poor sleep efficiency, PLoS One, 10, 10.1371/journal.pone.0138113
Anderson, 2014, Twenty years of surveillance in Rett syndrome: what does this tell us?, Orphanet J Rare Dis, 9, 87, 10.1186/1750-1172-9-87
Anderson, 2016, A novel excitatory network for the control of breathing, Nature, 536, 76, 10.1038/nature18944
Angell-James, 1981, Lung inflation: effects on heart rate, respiration, and vagal afferent activity in seals, Am J Physiol, 240, H190
Athar, 1989, Malignant conversion of UV radiation and chemically induced mouse skin benign tumors by free-radical-generating compounds, Carcinogenesis, 10, 1841, 10.1093/carcin/10.10.1841
Ballas, 2009, Non-cell autonomous influence of MeCP2-deficient glia on neuronal dendritic morphology, Nat Neurosci, 12, 311, 10.1038/nn.2275
Bassett, 2016, Sleep apnea in patients with Rett syndrome: roles for polysomnography and adenotonsillectomy, J Child Neurol, 31, 1633, 10.1177/0883073816671439
Bebensee, 2017, Increased mitochondrial mass and cytosolic redox imbalance in hippocampal astrocytes of a mouse model of Rett syndrome: subcellular changes revealed by ratiometric imaging of JC-1 and roGFP1 fluorescence, Oxid Med Cell Longev, 2017, 3064016, 10.1155/2017/3064016
Belvisi, 2003, Animal models of cough, 217
Bissonnette, 2006, Separate respiratory phenotypes in methyl-CpG-binding protein 2 (Mecp2) deficient mice, Pediatr Res, 59, 513, 10.1203/01.pdr.0000203157.31924.4a
Bissonnette, 2014, Respiratory phenotypes are distinctly affected in mice with common Rett syndrome mutations MeCP2 T158A and R168X, Neuroscience, 267, 166, 10.1016/j.neuroscience.2014.02.043
Buchanan, 2019, Behavioral profiles in Rett syndrome: data from the natural history study, Brain Dev, 41, 123, 10.1016/j.braindev.2018.08.008
Campos, 2018, Encoding of danger by parabrachial CGRP neurons, Nature, 555, 617, 10.1038/nature25511
Carroll, 2020, Diurnal variation in autonomic regulation among patients with genotyped Rett syndrome, J Med Genet, 57, 786, 10.1136/jmedgenet-2019-106601
Chao, 2010, Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes, Nature, 468, 263, 10.1038/nature09582
Cheng, 2019, Potent hERG channel inhibition by sarizotan, an investigative treatment for Rett Syndrome, J Mol Cell Cardiol, 135, 22, 10.1016/j.yjmcc.2019.07.012
Ciccoli, 2015, Red blood cells in Rett syndrome: oxidative stress, morphological changes and altered membrane organization, Biol Chem, 396, 1233, 10.1515/hsz-2015-0117
Cirignotta, 1986, Breathing impairment in Rett syndrome, Am J Med Genet Suppl, 1, 167, 10.1002/ajmg.1320250519
Cocca, 2018, Correlation between dysphagia and malocclusion in Rett syndrome: a preliminary study, Sultan Qaboos Univ Med J, 18, e489, 10.18295/squmj.2018.18.04.010
Collins, 2022, Safety and efficacy of genetic MECP2 supplementation in the R294X mouse model of Rett syndrome, Genes Brain Behav, 21, 10.1111/gbb.12739
Crosson, 2017, Evaluation of QTc in Rett syndrome: correlation with age, severity, and genotype, Am J Med Genet A, 173, 1495, 10.1002/ajmg.a.38191
De Felice, 2012, The role of oxidative stress in Rett syndrome: an overview, Ann N Y Acad Sci, 1259, 121, 10.1111/j.1749-6632.2012.06611.x
De Felice, 2014, Inflammatory lung disease in Rett syndrome, Mediators Inflamm, 2014, 10.1155/2014/560120
De Felice, 2014, Oxidative brain damage in Mecp2-mutant murine models of Rett syndrome, Neurobiol Dis, 68, 66, 10.1016/j.nbd.2014.04.006
Del Rio, 2014, Carotid body potentiation during chronic intermittent hypoxia: implication for hypertension, Front Physiol, 5, 434, 10.3389/fphys.2014.00434
Demarest, 2019, Severity assessment in CDKL5 deficiency disorder, Pediatr Neurol, 97, 38, 10.1016/j.pediatrneurol.2019.03.017
Dempsey, 2014, Physiology in medicine: obstructive sleep apnea pathogenesis and treatment—considerations beyond airway anatomy, J Appl Physiol, 116, 3, 10.1152/japplphysiol.01054.2013
Derecki, 2012, Wild-type microglia arrest pathology in a mouse model of Rett syndrome, Nature, 484, 105, 10.1038/nature10907
Dergacheva, 2014, Chronic intermittent hypoxia and hypercapnia inhibit the hypothalamic paraventricular nucleus neurotransmission to parasympathetic cardiac neurons in the brain stem, Hypertension, 64, 597, 10.1161/HYPERTENSIONAHA.114.03603
Dhingra, 2013, Decreased Hering-Breuer input-output entrainment in a mouse model of Rett syndrome, Front Neural Circuits, 7, 42, 10.3389/fncir.2013.00042
Dhingra, 2016, Blockade of dorsolateral pontine 5HT1A receptors destabilizes the respiratory rhythm in C57BL6/J wild-type mice, Respir Physiol Neurobiol, 226, 110, 10.1016/j.resp.2016.01.007
Dutschmann, 2012, Pontine mechanisms of respiratory control, Compr Physiol, 2, 2443, 10.1002/cphy.c100015
Dutschmann, 2006, The Kölliker-Fuse nucleus gates the postinspiratory phase of the respiratory cycle to control inspiratory off-switch and upper airway resistance in rat, Eur J Neurosci, 24, 1071, 10.1111/j.1460-9568.2006.04981.x
Thurm, 2018, Loss of skills and onset patterns in neurodevelopmental disorders: understanding the neurobiological mechanisms, Autism Res, 11, 212, 10.1002/aur.1903
Neul, 2010, Rett syndrome: revised diagnostic criteria and nomenclature, Ann Neurol, 68, 944, 10.1002/ana.22124
Stallworth, 2019, Hand stereotypies: lessons from the Rett Syndrome Natural History Study, Neurology, 92, e2594, 10.1212/WNL.0000000000007560
Rett, 1946, On a unusual brain atrophy syndrome in hyperammonemia in childhood, Wien Med Wochenschr, 116, 723
Percy, 1946, Progress in Rett Syndrome: from discovery to clinical trials, Wien Med Wochenschr, 166, 325, 10.1007/s10354-016-0491-9
Hagberg, 1983, A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases, Ann Neurol, 14, 471, 10.1002/ana.410140412
Vacca, 2016, X inactivation and reactivation in X-linked diseases, Semin Cell Dev Biol, 56, 78, 10.1016/j.semcdb.2016.03.009
Sirianni, 1998, Rett syndrome: confirmation of X-linked dominant inheritance, and localization of the gene to Xq28, Am J Hum Genet, 63, 1552, 10.1086/302105
Percy, 2007, Rett syndrome: north American database, J Child Neurol, 22, 1338, 10.1177/0883073807308715
Percy, 2018, When Rett syndrome is due to genes other than, Transl Sci Rare Dis, 3, 49
Neul, 2019, The array of clinical phenotypes of males with mutations in Methyl-CpG binding protein 2, Am J Med Genet B Neuropsychiatr Genet, 180, 55, 10.1002/ajmg.b.32707
Tarquinio, 2018, The course of awake breathing disturbances across the lifespan in Rett syndrome, Brain Dev, 40, 515, 10.1016/j.braindev.2018.03.010
Neul, 2014, Developmental delay in Rett syndrome: data from the natural history study, J Neurodev Disord, 6, 20, 10.1186/1866-1955-6-20
Tarquinio, 2017, Longitudinal course of epilepsy in Rett syndrome and related disorders, Brain, 140, 306, 10.1093/brain/aww302
Katz, 2016, Rett syndrome: crossing the threshold to clinical translation, Trends Neurosci, 39, 100, 10.1016/j.tins.2015.12.008
Kaufmann, 2016, Neurobiologically-based treatments in Rett syndrome: opportunities and challenges, Expert Opin Orphan Drugs, 4, 1043, 10.1080/21678707.2016.1229181
MacKay, 2018, Respiratory morbidity in Rett syndrome: an observational study, Dev Med Child Neurol, 60, 951, 10.1111/dmcn.13726
Katz, 2016, N-methyl-d-aspartate receptors, ketamine, and Rett syndrome: something special on the road to treatments?, Biol Psychiatry, 79, 710, 10.1016/j.biopsych.2016.03.1045
Gomathi, 2020, Drug studies on Rett syndrome: from bench to bedside, J Autism Dev Disord, 50, 2740, 10.1007/s10803-020-04381-y
Singh, 2018, Key issues in Rett syndrome: emotional, behavioural and autonomic dysregulation (EBAD)—a target for clinical trials, Orphanet J Rare Dis, 13, 128, 10.1186/s13023-018-0873-8
Smith-Hicks, 2017, Randomized open-label trial of dextromethorphan in Rett syndrome, Neurology, 89, 1684, 10.1212/WNL.0000000000004515
Nissenkorn, 2017, A potential life-threatening reaction to glatiramer acetate in Rett syndrome, Pediatr Neurol, 68, 40, 10.1016/j.pediatrneurol.2016.11.006
Pozzo-Miller, 2015, Rett syndrome: reaching for clinical trials, Neurotherapeutics, 12, 631, 10.1007/s13311-015-0353-y
Leoncini, 2011, Oxidative stress in Rett syndrome: natural history, genotype, and variants, Redox Rep, 16, 145, 10.1179/1351000211Y.0000000004
Neul, 2022, Design and outcome measures of LAVENDER, a phase 3 study of trofinetide for Rett syndrome, Contemp Clin Trials, 114, 10.1016/j.cct.2022.106704
Glaze, 2019, Double-blind, randomized, placebo-controlled study of trofinetide in pediatric Rett syndrome, Neurology, 92, e1912, 10.1212/WNL.0000000000007316
Glaze, 2017, A double-blind, randomized, placebo-controlled clinical study of trofinetide in the treatment of Rett syndrome, Pediatr Neurol, 76, 37, 10.1016/j.pediatrneurol.2017.07.002
Tropea, 2009, Partial reversal of Rett syndrome-like symptoms in MeCP2 mutant mice, Proc Natl Acad Sci U S A, 106, 2029, 10.1073/pnas.0812394106
Guy, 2007, Reversal of neurological defects in a mouse model of Rett syndrome, Science, 315, 1143, 10.1126/science.1138389
Katz, 2012, Preclinical research in Rett syndrome: setting the foundation for translational success, Dis Model Mech, 5, 733, 10.1242/dmm.011007
Kline, 2010, Exogenous brain-derived neurotrophic factor rescues synaptic dysfunction in Mecp2-null mice, J Neurosci, 30, 5303, 10.1523/JNEUROSCI.5503-09.2010
Ogier, 2007, Brain-derived neurotrophic factor expression and respiratory function improve after ampakine treatment in a mouse model of Rett syndrome, J Neurosci, 27, 10912, 10.1523/JNEUROSCI.1869-07.2007
Robinson, 2012, Morphological and functional reversal of phenotypes in a mouse model of Rett syndrome, Brain, 135, 2699, 10.1093/brain/aws096
Schmid, 2012, A TrkB small molecule partial agonist rescues TrkB phosphorylation deficits and improves respiratory function in a mouse model of Rett syndrome, J Neurosci, 32, 1803, 10.1523/JNEUROSCI.0865-11.2012
Toward, 2013, Increasing brain serotonin corrects CO2 chemosensitivity in methyl-CpG-binding protein 2 (Mecp2)-deficient mice, Exp Physiol, 98, 842, 10.1113/expphysiol.2012.069872
Weng, 2011, Synaptic plasticity deficits in an experimental model of rett syndrome: long-term potentiation saturation and its pharmacological reversal, Neuroscience, 180, 314, 10.1016/j.neuroscience.2011.01.061
Musi, 2021, JNK signaling provides a novel therapeutic target for Rett syndrome, BMC Biol, 19, 256, 10.1186/s12915-021-01190-2
Mao, 2021, Anti-semaphorin 4D rescues motor, cognitive, and respiratory phenotypes in a Rett syndrome mouse model, Int J Mol Sci, 22, 9465, 10.3390/ijms22179465
Matagne, 2021, Severe offtarget effects following intravenous delivery of AAV9-MECP2 in a female mouse model of Rett syndrome, Neurobiol Dis, 149, 10.1016/j.nbd.2020.105235
Weese-Mayer, 2006, Autonomic nervous system dysregulation: breathing and heart rate perturbation during wakefulness in young girls with Rett syndrome, Pediatr Res, 60, 443, 10.1203/01.pdr.0000238302.84552.d0
Glaze, 2005, Neurophysiology of Rett syndrome, J Child Neurol, 20, 740, 10.1177/08830738050200090801
Katz, 2009, Breathing disorders in Rett syndrome: progressive neurochemical dysfunction in the respiratory network after birth, Respir Physiol Neurobiol, 168, 101, 10.1016/j.resp.2009.04.017
Kerr, 1992, A review of the respiratory disorder in the Rett syndrome, Brain Dev, 14, S43
Ogier, 2008, Breathing dysfunction in Rett syndrome: understanding epigenetic regulation of the respiratory network, Respir Physiol Neurobiol, 164, 55, 10.1016/j.resp.2008.04.005
Rohdin, 2007, Disturbances in cardiorespiratory function during day and night in Rett syndrome, Pediatr Neurol, 37, 338, 10.1016/j.pediatrneurol.2007.06.009
Weese-Mayer, 2008, Autonomic dysregulation in young girls with Rett Syndrome during nighttime in-home recordings, Pediatr Pulmonol, 43, 1045, 10.1002/ppul.20866
Ramirez, 2013, Breathing challenges in Rett syndrome: lessons learned from humans and animal models, Respir Physiol Neurobiol, 189, 280, 10.1016/j.resp.2013.06.022
Kerr, 1997, Rett syndrome: analysis of deaths in the British survey, Eur Child Adolesc Psychiatry, 6, 71
Guideri, 1999, Reduced heart rate variability in patients affected with Rett syndrome. A possible explanation for sudden death, Neuropediatrics, 30, 146, 10.1055/s-2007-973480
Guideri, 2001, Progressive cardiac dysautonomia observed in patients affected by classic Rett syndrome and not in the preserved speech variant, J Child Neurol, 16, 370, 10.1177/088307380101600512
Singh, 2020, Autonomic dysfunction and sudden death in patients with Rett syndrome: a systematic review, J Psychiatry Neurosci, 45, 150, 10.1503/jpn.190033
Ellaway, 1999, Prolonged QT interval in Rett syndrome, Arch Dis Child, 80, 470, 10.1136/adc.80.5.470
Herrera, 2016, Methyl-CpG binding-protein 2 function in cholinergic neurons mediates cardiac arrhythmogenesis, Hum Mol Genet, 25, 4983
Ward, 2016, Loss of MeCP2 causes urological dysfunction and contributes to death by kidney failure in mouse models of Rett syndrome, PLoS One, 11, 10.1371/journal.pone.0165550
Singh, 2020, Autonomic characteristics of sudden unexpected death in epilepsy in children—a systematic review of studies and their relevance to the management of epilepsy in Rett syndrome, Front Neurol, 11
Glaze, 2010, Epilepsy and the natural history of Rett syndrome, Neurology, 74, 909, 10.1212/WNL.0b013e3181d6b852
Tarquinio, 2012, Growth failure and outcome in Rett syndrome: specific growth references, Neurology, 79, 1653, 10.1212/WNL.0b013e31826e9a70
Kerr, 1999, Recent insights into hyperventilation from the study of Rett syndrome, Arch Dis Child, 80, 384, 10.1136/adc.80.4.384
Julu, 1997, Functional evidence of brain stem immaturity in Rett syndrome, Eur Child Adolesc Psychiatry, 6, 47
Julu, 2001, Characterisation of breathing and associated central autonomic dysfunction in the Rett disorder, Arch Dis Child, 85, 29, 10.1136/adc.85.1.29
Lugaresi, 1985, Abnormal breathing in the Rett syndrome, Brain Dev, 7, 329, 10.1016/S0387-7604(85)80039-5
Glaze, 1987, Rett's syndrome: characterization of respiratory patterns and sleep, Ann Neurol, 21, 377, 10.1002/ana.410210410
Schlüter, 1995, Polysomnographic recordings of respiratory disturbances in Rett syndrome, J Sleep Res, 4, 203, 10.1111/j.1365-2869.1995.tb00216.x
Ward, 2020, Loss of MeCP2 function across several neuronal populations impairs breathing response to acute hypoxia, Front Neurol, 11, 10.3389/fneur.2020.593554
Ramirez, 2007, Hypoxia tolerance in mammals and birds: from the wilderness to the clinic, Annu Rev Physiol, 69, 113, 10.1146/annurev.physiol.69.031905.163111
Looga, 2005, The Valsalva manoeuvre—cardiovascular effects and performance technique: a critical review, Respir Physiol Neurobiol, 147, 39, 10.1016/j.resp.2005.01.003
Huang, 2016, Progressive changes in a distributed neural circuit underlie breathing abnormalities in mice lacking MeCP2, J Neurosci, 36, 5572, 10.1523/JNEUROSCI.2330-15.2016
Viemari, 2005, Mecp2 deficiency disrupts norepinephrine and respiratory systems in mice, J Neurosci, 25, 11521, 10.1523/JNEUROSCI.4373-05.2005
Zhang, 2011, The disruption of central CO2 chemosensitivity in a mouse model of Rett syndrome, Am J Physiol Cell Physiol, 301, C729, 10.1152/ajpcell.00334.2010
Stettner, 2007, Breathing dysfunctions associated with impaired control of postinspiratory activity in Mecp2-/y knockout mice, J Physiol, 579, 863, 10.1113/jphysiol.2006.119966
Kron, 2012, Brain activity mapping in Mecp2 mutant mice reveals functional deficits in forebrain circuits, including key nodes in the default mode network, that are reversed with ketamine treatment, J Neurosci, 32, 13860, 10.1523/JNEUROSCI.2159-12.2012
Taneja, 2009, Pathophysiology of locus ceruleus neurons in a mouse model of Rett syndrome, J Neurosci, 29, 12187, 10.1523/JNEUROSCI.3156-09.2009
Medrihan, 2008, Early defects of GABAergic synapses in the brain stem of a MeCP2 mouse model of Rett syndrome, J Neurophysiol, 99, 112, 10.1152/jn.00826.2007
Gestreau, 2005, Activation of XII motoneurons and premotor neurons during various oropharyngeal behaviors, Respir Physiol Neurobiol, 147, 159, 10.1016/j.resp.2005.03.015
Stettner, 2008, Disturbances of breathing in Rett syndrome: results from patients and animal models, Adv Exp Med Biol, 605, 503, 10.1007/978-0-387-73693-8_88
Ramirez, 2020, The pathophysiology of Rett syndrome with a focus on breathing dysfunctions, Physiology (Bethesda), 35, 375
Voituron, 2009, Early breathing defects after moderate hypoxia or hypercapnia in a mouse model of Rett syndrome, Respir Physiol Neurobiol, 168, 109, 10.1016/j.resp.2009.05.013
Tabata, 2001, Role of GABA within the nucleus tractus solitarii in the hypoxic ventilatory decline of awake rats, Am J Physiol Regul Integr Comp Physiol, 281, R1411, 10.1152/ajpregu.2001.281.5.R1411
Wittman, 2019, Reduced computational modelling of Kölliker-Fuse contributions to breathing patterns in Rett syndrome, J Physiol, 597, 2651, 10.1113/JP277592
Moreira, 2007, Activation of 5-hydroxytryptamine type 3 receptor-expressing C-fiber vagal afferents inhibits retrotrapezoid nucleus chemoreceptors in rats, J Neurophysiol, 98, 3627, 10.1152/jn.00675.2007
Kubin, 1985, Central pathways of pulmonary and lower airway vagal afferents, J Appl Physiol, 101, 618, 10.1152/japplphysiol.00252.2006
Ezure, 2002, Axonal projections of pulmonary slowly adapting receptor relay neurons in the rat, J Comp Neurol, 446, 81, 10.1002/cne.10185
Paton, 1998, Pattern of cardiorespiratory afferent convergence to solitary tract neurons driven by pulmonary vagal C-fiber stimulation in the mouse, J Neurophysiol, 79, 2365, 10.1152/jn.1998.79.5.2365
Smeets, 2006, Management of a severe forceful breather with Rett syndrome using carbogen, Brain Dev, 28, 625, 10.1016/j.braindev.2006.04.010
Yasui, 2013, MeCP2 modulates gene expression pathways in astrocytes, Mol Autism, 4, 3, 10.1186/2040-2392-4-3
Forbes-Lorman, 2014, MeCP2 regulates GFAP expression within the developing brain, Brain Res, 1543, 151, 10.1016/j.brainres.2013.11.011
Okabe, 2012, Alterations of gene expression and glutamate clearance in astrocytes derived from an MeCP2-null mouse model of Rett syndrome, PLoS One, 7, 10.1371/journal.pone.0035354
Maezawa, 2009, Rett syndrome astrocytes are abnormal and spread MeCP2 deficiency through gap junctions, J Neurosci, 29, 5051, 10.1523/JNEUROSCI.0324-09.2009
Maezawa, 2010, Rett syndrome microglia damage dendrites and synapses by the elevated release of glutamate, J Neurosci, 30, 5346, 10.1523/JNEUROSCI.5966-09.2010
Lioy, 2011, A role for glia in the progression of Rett's syndrome, Nature, 475, 497, 10.1038/nature10214
Turovsky, 2015, Impaired CO2 sensitivity of astrocytes in a mouse model of Rett syndrome, J Physiol, 593, 3159, 10.1113/JP270369
Ramirez, 2018, Advances in cellular and integrative control of oxygen homeostasis within the central nervous system, J Physiol, 596, 3043, 10.1113/JP275890
Gourine, 2010, Astrocytes control breathing through pH-dependent release of ATP, Science, 329, 571, 10.1126/science.1190721
Guyenet, 2014, Regulation of breathing and autonomic outflows by chemoreceptors, Compr Physiol, 4, 1511, 10.1002/cphy.c140004
Katz, 2014, Brain-derived neurotrophic factor and Rett syndrome, Handb Exp Pharmacol, 220, 481, 10.1007/978-3-642-45106-5_18
Peña, 2002, Endogenous activation of serotonin-2A receptors is required for respiratory rhythm generation in vitro, J Neurosci, 22, 11055, 10.1523/JNEUROSCI.22-24-11055.2002
Samaco, 2009, Loss of MeCP2 in aminergic neurons causes cell-autonomous defects in neurotransmitter synthesis and specific behavioral abnormalities, Proc Natl Acad Sci U S A, 106, 21966, 10.1073/pnas.0912257106
Ide, 2005, Defect in normal developmental increase of the brain biogenic amine concentrations in the mecp2-null mouse, Neurosci Lett, 386, 14, 10.1016/j.neulet.2005.05.056
Richerson, 2004, Serotonergic neurons as carbon dioxide sensors that maintain pH homeostasis, Nat Rev Neurosci, 5, 449, 10.1038/nrn1409
Hodges, 2008, Defects in breathing and thermoregulation in mice with near-complete absence of central serotonin neurons, J Neurosci, 28, 2495, 10.1523/JNEUROSCI.4729-07.2008
Ray, 2011, Impaired respiratory and body temperature control upon acute serotonergic neuron inhibition, Science, 333, 637, 10.1126/science.1205295
Levitt, 1985, A selective 5-HT1a receptor agonist improves respiration in a mouse model of Rett syndrome, J Appl Physiol, 115, 1626, 10.1152/japplphysiol.00889.2013
Samaco, 2005, Epigenetic overlap in autism-spectrum neurodevelopmental disorders: MECP2 deficiency causes reduced expression of UBE3A and GABRB3, Hum Mol Genet, 14, 483, 10.1093/hmg/ddi045
Young, 2005, Regulation of RNA splicing by the methylation-dependent transcriptional repressor methyl-CpG binding protein 2, Proc Natl Acad Sci U S A, 102, 17551, 10.1073/pnas.0507856102
Sun, 2020, Parabrachial nucleus circuit governs neuropathic pain-like behavior, Nat Commun, 11, 5974, 10.1038/s41467-020-19767-w
Yang, 2021, Locus coeruleus anchors a trisynaptic circuit controlling fear-induced suppression of feeding, Neuron, 109, 10.1016/j.neuron.2020.12.023
Halbach, 2012, Genotype-phenotype relationships as prognosticators in Rett syndrome should be handled with care in clinical practice, Am J Med Genet A, 158A, 340, 10.1002/ajmg.a.34418
Prabhakar, 2020, Hypoxia-inducible factors and obstructive sleep apnea, J Clin Invest, 130, 5042, 10.1172/JCI137560
Garcia, 2016, Chronic Intermittent Hypoxia Alters Local Respiratory Circuit Function at the Level of the preBötzinger Complex, Front Neurosci, 10, 4, 10.3389/fnins.2016.00004
Garcia, 2017, Chronic intermittent hypoxia differentially impacts different states of inspiratory activity at the level of the preBötzinger complex, Front Physiol, 8, 571, 10.3389/fphys.2017.00571
Ramirez, 2013, Central and peripheral factors contributing to obstructive sleep apneas, Respir Physiol Neurobiol, 189, 344, 10.1016/j.resp.2013.06.004
Semenza, 2018, The role of hypoxia-inducible factors in carotid body (patho) physiology, J Physiol, 596, 2977, 10.1113/JP275696
Peng, 2021, Role of olfactory receptor78 in carotid body-dependent sympathetic activation and hypertension in murine models of chronic intermittent hypoxia, J Neurophysiol, 125, 2054, 10.1152/jn.00067.2021
Prabhakar, 2005, Cardiovascular alterations by chronic intermittent hypoxia: importance of carotid body chemoreflexes, Clin Exp Pharmacol Physiol, 32, 447, 10.1111/j.1440-1681.2005.04209.x
Gracia, 1986, Neurofibromatosis and extensive intracranial arterial occlusive disease (moyamoya disease). Report of a case, Arq Neuropsiquiatr, 44, 395, 10.1590/S0004-282X1986000400011
Müller, 2019, Disturbed redox homeostasis and oxidative stress: potential players in the developmental regression in Rett syndrome, Neurosci Biobehav Rev, 98, 154, 10.1016/j.neubiorev.2018.12.009
Valenti, 2017, Stimulation of the brain serotonin receptor 7 rescues mitochondrial dysfunction in female mice from two models of Rett syndrome, Neuropharmacology, 121, 79, 10.1016/j.neuropharm.2017.04.024
Shulyakova, 2017, Mitochondrial dysfunction in the pathogenesis of rett syndrome: implications for mitochondria-targeted therapies, Front Cell Neurosci, 11, 58, 10.3389/fncel.2017.00058
Signorini, 2016, MECP2 duplication syndrome: evidence of enhanced oxidative stress. A comparison with Rett syndrome, PLoS One, 11, 10.1371/journal.pone.0150101
Valacchi, 2014, Scavenger receptor B1 oxidative post-translational modifications are responsible for its loss in Rett syndrome, Free Radic Biol Med, 75, S10, 10.1016/j.freeradbiomed.2014.10.855
Mezzedimi, 2017, Dysphagia in Rett syndrome: a descriptive study, Ann Otol Rhinol Laryngol, 126, 640, 10.1177/0003489417723033
Motil, 1999, Oropharyngeal dysfunction and gastroesophageal dysmotility are present in girls and women with Rett syndrome, J Pediatr Gastroenterol Nutr, 29, 31, 10.1097/00005176-199907000-00010
Morton, 1997, Feeding ability in Rett syndrome, Dev Med Child Neurol, 39, 331, 10.1111/j.1469-8749.1997.tb07440.x
Morton, 1997, Respiration patterns during feeding in Rett syndrome, Dev Med Child Neurol, 39, 607, 10.1111/j.1469-8749.1997.tb07496.x
Morton, 2000, Air swallowing in Rett syndrome, Dev Med Child Neurol, 42, 271, 10.1017/S0012162200000463
Kida, 2017, Pathogenesis of lethal aspiration pneumonia in Mecp2-null mouse model for Rett syndrome, Sci Rep, 7, 12032, 10.1038/s41598-017-12293-8
Laurvick, 2006, Rett syndrome in Australia: a review of the epidemiology, J Pediatr, 148, 347, 10.1016/j.jpeds.2005.10.037
Saby, 2020, Evoked potentials and EEG analysis in Rett syndrome and related developmental encephalopathies: towards a biomarker for translational research, Front Integr Neurosci, 14, 30, 10.3389/fnint.2020.00030
