Rett syndrome (English Wikipedia)

Davis AS (25 October 2010). Handbook of Pediatric Neuropsychology. Springer Publishing Company. p. 703. ISBN 978-0826157362. Archived from the original on 5 November 2017. Rett initially called this syndrome cerebroaatrophic hyperammonemia, but the elevated ammonia levels in the bloodstream were later found to be only rarely associated with this condition (can Acker, Loncola, & Can Acker, 2005).

brainanddevelopment.com

Smeets EE, Julu PO, Waardenburg Dv, Engerström IW, Hansen S, Apartopoulos F, et al. (1 November 2006). "Management of a severe forceful breather with Rett Syndrome using carbogen". Brain and Development. 28 (10): 625–632. doi:10.1016/j.braindev.2006.04.010. ISSN 0387-7604. PMID 16765005. S2CID 15545729. Archived from the original on 1 October 2022. Retrieved 29 November 2021.

cerebralpalsyguidance.com

"Cerebral Palsy Misdiagnosis". Cerebral Palsy Guidance. Retrieved 5 February 2024.

doi.org

Percy A (2014). "Rett Syndrome: Coming to Terms with Treatment". Advances in Neuroscience. 2014: 1–20. doi:10.1155/2014/345270.
Percy A (January 2014). "The American History of Rett Syndrome". Pediatric Neurology. 50 (1): 1–3. doi:10.1016/j.pediatrneurol.2013.08.018. PMC 3874243. PMID 24200039.
Amir R, Van den Veyver I, Wan M, Tran C, Francke U, Zoghbi H (1999). "Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2". Nature Genetics. 23 (2): 185–8. doi:10.1038/13810. PMID 10508514. S2CID 3350350.
Neul Jl, Kaufmann WE, Glaze DG, Christodoulou J, Clarke AJ, Bahi-Buisson N, et al. (Rettsearch Consortium) (2010). "Rett syndrome: Revised diagnostic criteria and nomenclature". Annals of Neurology. 68 (6): 944–50. doi:10.1002/ana.22124. PMC 3058521. PMID 21154482.
Ariani F, Hayek G, Rondinella D, Artuso R, Mencarelli MA, Spanhol-Rosseto A, et al. (11 July 2008). "FOXG1 is Responsible for the Congenital Variant of Rett Syndrome". The American Journal of Human Genetics. 83 (1): 89–93. doi:10.1016/j.ajhg.2008.05.015. PMC 2443837. PMID 18571142.
Zappella M (1992). "The rett girls with preserved speech". Brain and Development. 14 (2): 98–101. doi:10.1016/S0387-7604(12)80094-5. PMID 1621933. S2CID 4782923.
Skjeldal OH, Von Tetzchner S, Jacobsen K, Smith L, Heiberg A (2007). "Rett Syndrome - Distribution of Phenotypes with Special Attention to the Preserved Speech Variant". Neuropediatrics. 26 (2): 87. doi:10.1055/s-2007-979732. PMID 7566462. S2CID 260243402.
Renieri A, Mari F, Mencarelli M, Scala E, Ariani F, Longo I, et al. (March 2009). "Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant)". Brain and Development. 31 (3): 208–16. doi:10.1016/j.braindev.2008.04.007. PMID 18562141. S2CID 6223422.
Buoni S, Zannolli R, De Felice C, De Nicola A, Guerri V, Guerra B, et al. (May 2010). "EEG features and epilepsy in MECP2-mutated patients with the Zappella variant of Rett syndrome". Clinical Neurophysiology. 121 (5): 652–7. doi:10.1016/j.clinph.2010.01.003. PMID 20153689. S2CID 12976926.
Huppke P, Held M, Laccone F, Hanefeld F (2003). "The spectrum of phenotypes in females with Rett Syndrome". Brain and Development. 25 (5): 346–51. doi:10.1016/S0387-7604(03)00018-4. PMID 12850514. S2CID 9566219.
Zappella M, Gillberg C, Ehlers S (1998). "The preserved speech variant: A subgroup of the Rett complex: A clinical report of 30 cases". Journal of Autism and Developmental Disorders. 28 (6): 519–26. doi:10.1023/A:1026052128305. PMID 9932238. S2CID 22152062.
Neul JL, Kaufmann WE, Glaze DG, Christodoulou J, Clarke AJ, Bahi-Buisson N, et al. (2010). "Rett Syndrome: Revised Diagnostic Criteria and Nomenclature". Annals of Neurology. 68 (6): 944–950. doi:10.1002/ana.22124. ISSN 0364-5134. PMC 3058521. PMID 21154482.
Fahmi M, Yasui G, Seki K, Katayama S, Kaneko-Kawano T, Inazu T, et al. (2019). "In Silico Study of Rett Syndrome Treatment-Related Genes, MECP2, CDKL5, and FOXG1, by Evolutionary Classification and Disordered Region Assessment". International Journal of Molecular Sciences. 20 (22): 5593. doi:10.3390/ijms20225593. ISSN 1422-0067. PMC 6888432. PMID 31717404.
Cutri-French C, Armstrong D, Saby J, Gorman C, Lane J, Fu C, et al. (2020). "Comparison of core features in four Developmental Encephalopathies in the Rett Natural History Study". Annals of Neurology. 88 (2): 396–406. doi:10.1002/ana.25797. ISSN 0364-5134. PMC 8882337. PMID 32472944.
Guy J, Gan J, Selfridge J, Cobb S, Bird A (2007). "Reversal of Neurological Defects in a Mouse Model of Rett Syndrome". Science. 315 (5815): 1143–7. Bibcode:2007Sci...315.1143G. doi:10.1126/science.1138389. PMC 7610836. PMID 17289941. S2CID 25172134.
Trappe R, Laccone F, Cobilanschi J, Meins M, Huppke P, Hanefeld F, et al. (2001). "MECP2 Mutations in Sporadic Cases of Rett Syndrome Are Almost Exclusively of Paternal Origin". The American Journal of Human Genetics. 68 (5): 1093–101. doi:10.1086/320109. PMC 1226090. PMID 11309679.
Zoghbi HY, Van Den Veyver RE, Wan IB, Tran M, Francke CQ, Zoghbi U (1999). "Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2". Nature Genetics. 23 (2): 185–8. doi:10.1038/13810. PMID 10508514. S2CID 3350350.
Merwick A, O'Brien M, Delanty N (2012). "Complex single gene disorders and epilepsy". Epilepsia. 53 (s4): 81–91. doi:10.1111/j.1528-1167.2012.03617.x. ISSN 1528-1167. PMID 22946725. S2CID 37226510.
Zoghbi HY, Milstien S, Butler IJ, Smith EO, Kaufman S, Glaze DG, et al. (1989). "Cerebrospinal fluid biogenic amines and biopterin in Rett syndrome". Annals of Neurology. 25 (1): 56–60. doi:10.1002/ana.410250109. PMID 2913929. S2CID 351243.
Roux JC, Villard L (2009). "Biogenic Amines in Rett Syndrome: The Usual Suspects". Behavior Genetics. 40 (1): 59–75. doi:10.1007/s10519-009-9303-y. PMID 19851857. S2CID 20352177.
Berridge CW, Waterhouse BD (2003). "The locus coeruleus–noradrenergic system: Modulation of behavioral state and state-dependent cognitive processes". Brain Research Reviews. 42 (1): 33–84. doi:10.1016/S0165-0173(03)00143-7. PMID 12668290. S2CID 477754.
Taneja P, Ogier M, Brooks-Harris G, Schmid DA, Katz DM, Nelson SB (2009). "Pathophysiology of Locus Ceruleus Neurons in a Mouse Model of Rett Syndrome". Journal of Neuroscience. 29 (39): 12187–95. doi:10.1523/JNEUROSCI.3156-09.2009. PMC 2846656. PMID 19793977.
Roux JC, Panayotis N, Dura E, Villard L (2009). "Progressive noradrenergic deficits in the locus coeruleus of Mecp2 deficient mice". Journal of Neuroscience Research. 88 (7): 1500–9. doi:10.1002/jnr.22312. PMID 19998492. S2CID 3404695.
Björklund A, Dunnett SB (2007). "Dopamine neuron systems in the brain: An update". Trends in Neurosciences. 30 (5): 194–202. doi:10.1016/j.tins.2007.03.006. PMID 17408759. S2CID 14239716.
Parent A, Hazrati LN (1995). "Functional anatomy of the basal ganglia. I. The cortico-basal ganglia-thalamo-cortical loop". Brain Research Reviews. 20 (1): 91–127. doi:10.1016/0165-0173(94)00007-C. PMID 7711769. S2CID 28252990.
Gerfen CR (2000). "Molecular effects of dopamine on striatal-projection pathways". Trends in Neurosciences. 23 (10 Suppl): S64–70. doi:10.1016/S1471-1931(00)00019-7. PMID 11052222. S2CID 3965480.
Lees AJ, Hardy J, Revesz T (2009). "Parkinson's disease". The Lancet. 373 (9680): 2055–66. doi:10.1016/S0140-6736(09)60492-X. PMID 19524782. S2CID 42608600.
Dauer W, Przedborski S (2003). "Parkinson's Disease". Neuron. 39 (6): 889–909. doi:10.1016/S0896-6273(03)00568-3. PMID 12971891. S2CID 10400095.
Jenner P (2009). "Functional models of Parkinson's disease: A valuable tool in the development of novel therapies". Annals of Neurology. 64: S16–29. doi:10.1002/ana.21489. PMID 19127585. S2CID 26065287.
Fitzgerald PM, Jankovic J, Percy AK (1990). "Rett syndrome and associated movement disorders". Movement Disorders. 5 (3): 195–202. doi:10.1002/mds.870050303. PMID 2388636. S2CID 43376602.
Neul JL, Zoghbi HY (2004). "Rett Syndrome: A Prototypical Neurodevelopmental Disorder". The Neuroscientist. 10 (2): 118–28. doi:10.1177/1073858403260995. PMID 15070486. S2CID 9617631.
Segawa M (2005). "Early motor disturbances in Rett syndrome and its pathophysiological importance". Brain and Development. 27: S54 – S58. doi:10.1016/j.braindev.2004.11.010. PMID 16182486. S2CID 30218744.
Guy J, Hendrich B, Holmes M, Martin JE, Bird A (2001). "A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome". Nature Genetics. 27 (3): 322–6. doi:10.1038/85899. hdl:1842/727. PMID 11242117. S2CID 8698208.
Chen RZ, Akbarian S, Tudor M, Jaenisch R (2001). "Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice". Nature Genetics. 27 (3): 327–31. doi:10.1038/85906. PMID 11242118. S2CID 24979562.
Nan X, Ng HH, Johnson CA, Laherty CD, Turner BM, Eisenman RN, et al. (1998). "Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex". Nature. 393 (6683): 386–9. Bibcode:1998Natur.393..386N. doi:10.1038/30764. PMID 9620804. S2CID 4427745.
Cheval H, Guy J, Merusi C, De Sousa D, Selfridge J, Bird A (2012). "Postnatal inactivation reveals enhanced requirement for MeCP2 at distinct age windows". Human Molecular Genetics. 21 (17): 3806–14. doi:10.1093/hmg/dds208. PMC 3412380. PMID 22653753.
Ricceri L, De Filippis B, Laviola G (2008). "Mouse models of Rett syndrome: From behavioural phenotyping to preclinical evaluation of new therapeutic approaches". Behavioural Pharmacology. 19 (5–6): 501–17. doi:10.1097/FBP.0b013e32830c3645. PMID 18690105. S2CID 33364486.
Samaco RC, Mandel-Brehm C, Chao HT, Ward CS, Fyffe-Maricich SL, Ren J, et al. (2009). "Loss of MeCP2 in aminergic neurons causes cell-autonomous defects in neurotransmitter synthesis and specific behavioral abnormalities". Proceedings of the National Academy of Sciences. 106 (51): 21966–71. Bibcode:2009PNAS..10621966S. doi:10.1073/pnas.0912257106. JSTOR 40536204. PMC 2799790. PMID 20007372.
Panayotis N, Pratte M, Borges-Correia A, Ghata A, Villard L, Roux JC (2011). "Morphological and functional alterations in the substantia nigra pars compacta of the Mecp2-null mouse". Neurobiology of Disease. 41 (2): 385–97. doi:10.1016/j.nbd.2010.10.006. PMID 20951208. S2CID 25414717.
Sun YE, Wu H (2006). "The Ups and Downs of BDNF in Rett Syndrome". Neuron. 49 (3): 321–3. doi:10.1016/j.neuron.2006.01.014. PMID 16446133.
Sharifi O, Yasui DH (2021). "The Molecular Functions of MeCP2 in Rett Syndrome Pathology". Frontiers in Genetics. 12: 624290. doi:10.3389/fgene.2021.624290. PMC 8102816. PMID 33968128.
Ehrhart F, Coort SL, Cirillo E, Smeets E, Evelo CT, Curfs LM (25 November 2016). "Rett syndrome – biological pathways leading from MECP2 to disorder phenotypes". Orphanet Journal of Rare Diseases. 11 (1): 158. doi:10.1186/s13023-016-0545-5. PMC 5123333. PMID 27884167.
Tsai LY (1992). "Is Rett syndrome a subtype of pervasive developmental disorders?" (PDF). Journal of Autism and Developmental Disorders. 22 (4): 551–61. doi:10.1007/BF01046327. hdl:2027.42/44607. PMID 1483976. S2CID 17817425. Archived from the original on 29 August 2021. Retrieved 20 April 2018.
Abbeduto L, Ozonoff S, Thurman AJ, McDuffie A, Schweitzer J (18 March 2014). Hales R, Yudofsky S, Robert LW (eds.). Chapter 8. Neurodevelopmental Disorders, The American Psychiatric Publishing Textbook of Psychiatry (6 ed.). Arlington, VA: American Psychiatric Publishing. doi:10.1176/appi.books.9781585625031.rh08. ISBN 978-1-58562-444-7. S2CID 241966275.
Neul JL (2012). "The relationship of Rett syndrome and MECP2 disorders to autism". Dialogues in Clinical Neuroscience. 14 (3): 253–262. doi:10.31887/DCNS.2012.14.3/jneul. ISSN 1294-8322. PMC 3513680. PMID 23226951.
McCauley MD, Wang T, Mike E, Herrera J, Beavers DL, Huang TW, et al. (14 December 2011). "Pathogenesis of Lethal Cardiac Arrhythmias in Mecp2 Mutant Mice: Implication for Therapy in Rett Syndrome". Science Translational Medicine. 3 (113): 113ra125. doi:10.1126/scitranslmed.3002982. ISSN 1946-6234. PMC 3633081. PMID 22174313.
Mackay J, Downs J, Wong K, Heyworth J, Epstein A, Leonard H (2017). "Autonomic breathing abnormalities in Rett syndrome: caregiver perspectives in an international database study". Journal of Neurodevelopmental Disorders. 9: 15. doi:10.1186/s11689-017-9196-7. ISSN 1866-1947. PMC 5410057. PMID 28465761.
Kyle SM, Vashi N, Justice MJ (February 2018). "Rett syndrome: a neurological disorder with metabolic components". Open Biology. 8 (2): 170216. doi:10.1098/rsob.170216. ISSN 2046-2441. PMC 5830535. PMID 29445033.
De Felice C, Maffei S, Signorini C, Leoncini S, Lunghetti S, Valacchi G, et al. (April 2012). "Subclinical myocardial dysfunction in Rett syndrome". European Heart Journal: Cardiovascular Imaging. 13 (4): 339–345. doi:10.1093/ejechocard/jer256. ISSN 2047-2412. PMID 22113206. Archived from the original on 29 November 2021. Retrieved 29 November 2021.
Smeets EE, Julu PO, Waardenburg Dv, Engerström IW, Hansen S, Apartopoulos F, et al. (1 November 2006). "Management of a severe forceful breather with Rett Syndrome using carbogen". Brain and Development. 28 (10): 625–632. doi:10.1016/j.braindev.2006.04.010. ISSN 0387-7604. PMID 16765005. S2CID 15545729. Archived from the original on 1 October 2022. Retrieved 29 November 2021.
Keam SJ (June 2023). "Trofinetide: First Approval". Drugs. 83 (9): 819–824. doi:10.1007/s40265-023-01883-8. PMID 37191913. S2CID 258715933.
Schwartzman JS, Bernardino A, Nishimura A, Gomes RR, Zatz M (2001). "Rett Syndrome in a Boy with a 47,XXY Karyotype Confirmed by a Rare Mutation in the MECP2 Gene". Neuropediatrics. 32 (3): 162–4. doi:10.1055/s-2001-16620. PMID 11521215. S2CID 260240039.
Hardwick SA, Reuter K, Williamson SL, Vasudevan V, Donald J, Slater K, et al. (2007). "Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband". European Journal of Human Genetics. 15 (12): 1218–29. doi:10.1038/sj.ejhg.5201911. PMID 17712354.
Acampa M, Guideri F (May 2006). "Cardiac disease and Rett syndrome". Archives of Disease in Childhood. 91 (5): 440–443. doi:10.1136/adc.2005.090290. ISSN 1468-2044. PMC 2082747. PMID 16632674.

fda.gov

"FDA approves first treatment for Rett Syndrome". U.S. Food and Drug Administration (FDA). 13 March 2023. Archived from the original on 13 March 2023. Retrieved 13 March 2023. This article incorporates text from this source, which is in the public domain.
"Drug Trials Snapshots: Daybue". U.S. Food and Drug Administration (FDA). 12 March 2023. Retrieved 19 July 2024. This article incorporates text from this source, which is in the public domain.
New Drug Therapy Approvals 2023 (PDF). U.S. Food and Drug Administration (FDA) (Report). January 2024. Archived from the original on 10 January 2024. Retrieved 9 January 2024.

figshare.com

Keam SJ (June 2023). "Trofinetide: First Approval". Drugs. 83 (9): 819–824. doi:10.1007/s40265-023-01883-8. PMID 37191913. S2CID 258715933.

handle.net

hdl.handle.net

Guy J, Hendrich B, Holmes M, Martin JE, Bird A (2001). "A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome". Nature Genetics. 27 (3): 322–6. doi:10.1038/85899. hdl:1842/727. PMID 11242117. S2CID 8698208.
Tsai LY (1992). "Is Rett syndrome a subtype of pervasive developmental disorders?" (PDF). Journal of Autism and Developmental Disorders. 22 (4): 551–61. doi:10.1007/BF01046327. hdl:2027.42/44607. PMID 1483976. S2CID 17817425. Archived from the original on 29 August 2021. Retrieved 20 April 2018.

harvard.edu

ui.adsabs.harvard.edu

Guy J, Gan J, Selfridge J, Cobb S, Bird A (2007). "Reversal of Neurological Defects in a Mouse Model of Rett Syndrome". Science. 315 (5815): 1143–7. Bibcode:2007Sci...315.1143G. doi:10.1126/science.1138389. PMC 7610836. PMID 17289941. S2CID 25172134.
Nan X, Ng HH, Johnson CA, Laherty CD, Turner BM, Eisenman RN, et al. (1998). "Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex". Nature. 393 (6683): 386–9. Bibcode:1998Natur.393..386N. doi:10.1038/30764. PMID 9620804. S2CID 4427745.
Samaco RC, Mandel-Brehm C, Chao HT, Ward CS, Fyffe-Maricich SL, Ren J, et al. (2009). "Loss of MeCP2 in aminergic neurons causes cell-autonomous defects in neurotransmitter synthesis and specific behavioral abnormalities". Proceedings of the National Academy of Sciences. 106 (51): 21966–71. Bibcode:2009PNAS..10621966S. doi:10.1073/pnas.0912257106. JSTOR 40536204. PMC 2799790. PMID 20007372.

jstor.org

Samaco RC, Mandel-Brehm C, Chao HT, Ward CS, Fyffe-Maricich SL, Ren J, et al. (2009). "Loss of MeCP2 in aminergic neurons causes cell-autonomous defects in neurotransmitter synthesis and specific behavioral abnormalities". Proceedings of the National Academy of Sciences. 106 (51): 21966–71. Bibcode:2009PNAS..10621966S. doi:10.1073/pnas.0912257106. JSTOR 40536204. PMC 2799790. PMID 20007372.

mayoclinic.org

"Rett syndrome Tests and diagnosis". Mayo Clinic. Archived from the original on 30 October 2017.

nih.gov

pubmed.ncbi.nlm.nih.gov

Percy A (January 2014). "The American History of Rett Syndrome". Pediatric Neurology. 50 (1): 1–3. doi:10.1016/j.pediatrneurol.2013.08.018. PMC 3874243. PMID 24200039.
Amir R, Van den Veyver I, Wan M, Tran C, Francke U, Zoghbi H (1999). "Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2". Nature Genetics. 23 (2): 185–8. doi:10.1038/13810. PMID 10508514. S2CID 3350350.
Neul Jl, Kaufmann WE, Glaze DG, Christodoulou J, Clarke AJ, Bahi-Buisson N, et al. (Rettsearch Consortium) (2010). "Rett syndrome: Revised diagnostic criteria and nomenclature". Annals of Neurology. 68 (6): 944–50. doi:10.1002/ana.22124. PMC 3058521. PMID 21154482.
Ariani F, Hayek G, Rondinella D, Artuso R, Mencarelli MA, Spanhol-Rosseto A, et al. (11 July 2008). "FOXG1 is Responsible for the Congenital Variant of Rett Syndrome". The American Journal of Human Genetics. 83 (1): 89–93. doi:10.1016/j.ajhg.2008.05.015. PMC 2443837. PMID 18571142.
Zappella M (1992). "The rett girls with preserved speech". Brain and Development. 14 (2): 98–101. doi:10.1016/S0387-7604(12)80094-5. PMID 1621933. S2CID 4782923.
Skjeldal OH, Von Tetzchner S, Jacobsen K, Smith L, Heiberg A (2007). "Rett Syndrome - Distribution of Phenotypes with Special Attention to the Preserved Speech Variant". Neuropediatrics. 26 (2): 87. doi:10.1055/s-2007-979732. PMID 7566462. S2CID 260243402.
Sørensen E, Viken B (20 February 1995). "[Rett syndrome a developmental disorder. Presentation of a variant with preserved speech]". Tidsskrift for den Norske Laegeforening (in Norwegian). 115 (5): 588–590. ISSN 0029-2001. PMID 7900110.
Zappella M (1997). "The preserved speech variant of the Rett complex: A report of 8 cases". European Child & Adolescent Psychiatry. 6 (Suppl 1): 23–5. PMID 9452915.
Renieri A, Mari F, Mencarelli M, Scala E, Ariani F, Longo I, et al. (March 2009). "Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant)". Brain and Development. 31 (3): 208–16. doi:10.1016/j.braindev.2008.04.007. PMID 18562141. S2CID 6223422.
Buoni S, Zannolli R, De Felice C, De Nicola A, Guerri V, Guerra B, et al. (May 2010). "EEG features and epilepsy in MECP2-mutated patients with the Zappella variant of Rett syndrome". Clinical Neurophysiology. 121 (5): 652–7. doi:10.1016/j.clinph.2010.01.003. PMID 20153689. S2CID 12976926.
Huppke P, Held M, Laccone F, Hanefeld F (2003). "The spectrum of phenotypes in females with Rett Syndrome". Brain and Development. 25 (5): 346–51. doi:10.1016/S0387-7604(03)00018-4. PMID 12850514. S2CID 9566219.
Gillberg d (1997). "Communication in Rett syndrome complex". European Child & Adolescent Psychiatry. 6 (Suppl 1): 21–2. PMID 9452914.
Zappella M, Gillberg C, Ehlers S (1998). "The preserved speech variant: A subgroup of the Rett complex: A clinical report of 30 cases". Journal of Autism and Developmental Disorders. 28 (6): 519–26. doi:10.1023/A:1026052128305. PMID 9932238. S2CID 22152062.
Neul JL, Kaufmann WE, Glaze DG, Christodoulou J, Clarke AJ, Bahi-Buisson N, et al. (2010). "Rett Syndrome: Revised Diagnostic Criteria and Nomenclature". Annals of Neurology. 68 (6): 944–950. doi:10.1002/ana.22124. ISSN 0364-5134. PMC 3058521. PMID 21154482.
Fahmi M, Yasui G, Seki K, Katayama S, Kaneko-Kawano T, Inazu T, et al. (2019). "In Silico Study of Rett Syndrome Treatment-Related Genes, MECP2, CDKL5, and FOXG1, by Evolutionary Classification and Disordered Region Assessment". International Journal of Molecular Sciences. 20 (22): 5593. doi:10.3390/ijms20225593. ISSN 1422-0067. PMC 6888432. PMID 31717404.
Cutri-French C, Armstrong D, Saby J, Gorman C, Lane J, Fu C, et al. (2020). "Comparison of core features in four Developmental Encephalopathies in the Rett Natural History Study". Annals of Neurology. 88 (2): 396–406. doi:10.1002/ana.25797. ISSN 0364-5134. PMC 8882337. PMID 32472944.
Guy J, Gan J, Selfridge J, Cobb S, Bird A (2007). "Reversal of Neurological Defects in a Mouse Model of Rett Syndrome". Science. 315 (5815): 1143–7. Bibcode:2007Sci...315.1143G. doi:10.1126/science.1138389. PMC 7610836. PMID 17289941. S2CID 25172134.
Trappe R, Laccone F, Cobilanschi J, Meins M, Huppke P, Hanefeld F, et al. (2001). "MECP2 Mutations in Sporadic Cases of Rett Syndrome Are Almost Exclusively of Paternal Origin". The American Journal of Human Genetics. 68 (5): 1093–101. doi:10.1086/320109. PMC 1226090. PMID 11309679.
Zoghbi HY, Van Den Veyver RE, Wan IB, Tran M, Francke CQ, Zoghbi U (1999). "Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2". Nature Genetics. 23 (2): 185–8. doi:10.1038/13810. PMID 10508514. S2CID 3350350.
Merwick A, O'Brien M, Delanty N (2012). "Complex single gene disorders and epilepsy". Epilepsia. 53 (s4): 81–91. doi:10.1111/j.1528-1167.2012.03617.x. ISSN 1528-1167. PMID 22946725. S2CID 37226510.
Zoghbi HY, Milstien S, Butler IJ, Smith EO, Kaufman S, Glaze DG, et al. (1989). "Cerebrospinal fluid biogenic amines and biopterin in Rett syndrome". Annals of Neurology. 25 (1): 56–60. doi:10.1002/ana.410250109. PMID 2913929. S2CID 351243.
Roux JC, Villard L (2009). "Biogenic Amines in Rett Syndrome: The Usual Suspects". Behavior Genetics. 40 (1): 59–75. doi:10.1007/s10519-009-9303-y. PMID 19851857. S2CID 20352177.
Berridge CW, Waterhouse BD (2003). "The locus coeruleus–noradrenergic system: Modulation of behavioral state and state-dependent cognitive processes". Brain Research Reviews. 42 (1): 33–84. doi:10.1016/S0165-0173(03)00143-7. PMID 12668290. S2CID 477754.
Taneja P, Ogier M, Brooks-Harris G, Schmid DA, Katz DM, Nelson SB (2009). "Pathophysiology of Locus Ceruleus Neurons in a Mouse Model of Rett Syndrome". Journal of Neuroscience. 29 (39): 12187–95. doi:10.1523/JNEUROSCI.3156-09.2009. PMC 2846656. PMID 19793977.
Roux JC, Panayotis N, Dura E, Villard L (2009). "Progressive noradrenergic deficits in the locus coeruleus of Mecp2 deficient mice". Journal of Neuroscience Research. 88 (7): 1500–9. doi:10.1002/jnr.22312. PMID 19998492. S2CID 3404695.
Björklund A, Dunnett SB (2007). "Dopamine neuron systems in the brain: An update". Trends in Neurosciences. 30 (5): 194–202. doi:10.1016/j.tins.2007.03.006. PMID 17408759. S2CID 14239716.
Parent A, Hazrati LN (1995). "Functional anatomy of the basal ganglia. I. The cortico-basal ganglia-thalamo-cortical loop". Brain Research Reviews. 20 (1): 91–127. doi:10.1016/0165-0173(94)00007-C. PMID 7711769. S2CID 28252990.
Gerfen CR (2000). "Molecular effects of dopamine on striatal-projection pathways". Trends in Neurosciences. 23 (10 Suppl): S64–70. doi:10.1016/S1471-1931(00)00019-7. PMID 11052222. S2CID 3965480.
Lees AJ, Hardy J, Revesz T (2009). "Parkinson's disease". The Lancet. 373 (9680): 2055–66. doi:10.1016/S0140-6736(09)60492-X. PMID 19524782. S2CID 42608600.
Dauer W, Przedborski S (2003). "Parkinson's Disease". Neuron. 39 (6): 889–909. doi:10.1016/S0896-6273(03)00568-3. PMID 12971891. S2CID 10400095.
Jenner P (2009). "Functional models of Parkinson's disease: A valuable tool in the development of novel therapies". Annals of Neurology. 64: S16–29. doi:10.1002/ana.21489. PMID 19127585. S2CID 26065287.
Fitzgerald PM, Jankovic J, Percy AK (1990). "Rett syndrome and associated movement disorders". Movement Disorders. 5 (3): 195–202. doi:10.1002/mds.870050303. PMID 2388636. S2CID 43376602.
Neul JL, Zoghbi HY (2004). "Rett Syndrome: A Prototypical Neurodevelopmental Disorder". The Neuroscientist. 10 (2): 118–28. doi:10.1177/1073858403260995. PMID 15070486. S2CID 9617631.
Segawa M (2005). "Early motor disturbances in Rett syndrome and its pathophysiological importance". Brain and Development. 27: S54 – S58. doi:10.1016/j.braindev.2004.11.010. PMID 16182486. S2CID 30218744.
Guy J, Hendrich B, Holmes M, Martin JE, Bird A (2001). "A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome". Nature Genetics. 27 (3): 322–6. doi:10.1038/85899. hdl:1842/727. PMID 11242117. S2CID 8698208.
Chen RZ, Akbarian S, Tudor M, Jaenisch R (2001). "Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice". Nature Genetics. 27 (3): 327–31. doi:10.1038/85906. PMID 11242118. S2CID 24979562.
Nan X, Ng HH, Johnson CA, Laherty CD, Turner BM, Eisenman RN, et al. (1998). "Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex". Nature. 393 (6683): 386–9. Bibcode:1998Natur.393..386N. doi:10.1038/30764. PMID 9620804. S2CID 4427745.
Cheval H, Guy J, Merusi C, De Sousa D, Selfridge J, Bird A (2012). "Postnatal inactivation reveals enhanced requirement for MeCP2 at distinct age windows". Human Molecular Genetics. 21 (17): 3806–14. doi:10.1093/hmg/dds208. PMC 3412380. PMID 22653753.
Ricceri L, De Filippis B, Laviola G (2008). "Mouse models of Rett syndrome: From behavioural phenotyping to preclinical evaluation of new therapeutic approaches". Behavioural Pharmacology. 19 (5–6): 501–17. doi:10.1097/FBP.0b013e32830c3645. PMID 18690105. S2CID 33364486.
Samaco RC, Mandel-Brehm C, Chao HT, Ward CS, Fyffe-Maricich SL, Ren J, et al. (2009). "Loss of MeCP2 in aminergic neurons causes cell-autonomous defects in neurotransmitter synthesis and specific behavioral abnormalities". Proceedings of the National Academy of Sciences. 106 (51): 21966–71. Bibcode:2009PNAS..10621966S. doi:10.1073/pnas.0912257106. JSTOR 40536204. PMC 2799790. PMID 20007372.
Panayotis N, Pratte M, Borges-Correia A, Ghata A, Villard L, Roux JC (2011). "Morphological and functional alterations in the substantia nigra pars compacta of the Mecp2-null mouse". Neurobiology of Disease. 41 (2): 385–97. doi:10.1016/j.nbd.2010.10.006. PMID 20951208. S2CID 25414717.
Sun YE, Wu H (2006). "The Ups and Downs of BDNF in Rett Syndrome". Neuron. 49 (3): 321–3. doi:10.1016/j.neuron.2006.01.014. PMID 16446133.
Sharifi O, Yasui DH (2021). "The Molecular Functions of MeCP2 in Rett Syndrome Pathology". Frontiers in Genetics. 12: 624290. doi:10.3389/fgene.2021.624290. PMC 8102816. PMID 33968128.
Ehrhart F, Coort SL, Cirillo E, Smeets E, Evelo CT, Curfs LM (25 November 2016). "Rett syndrome – biological pathways leading from MECP2 to disorder phenotypes". Orphanet Journal of Rare Diseases. 11 (1): 158. doi:10.1186/s13023-016-0545-5. PMC 5123333. PMID 27884167.
Tsai LY (1992). "Is Rett syndrome a subtype of pervasive developmental disorders?" (PDF). Journal of Autism and Developmental Disorders. 22 (4): 551–61. doi:10.1007/BF01046327. hdl:2027.42/44607. PMID 1483976. S2CID 17817425. Archived from the original on 29 August 2021. Retrieved 20 April 2018.
Neul JL (2012). "The relationship of Rett syndrome and MECP2 disorders to autism". Dialogues in Clinical Neuroscience. 14 (3): 253–262. doi:10.31887/DCNS.2012.14.3/jneul. ISSN 1294-8322. PMC 3513680. PMID 23226951.
McCauley MD, Wang T, Mike E, Herrera J, Beavers DL, Huang TW, et al. (14 December 2011). "Pathogenesis of Lethal Cardiac Arrhythmias in Mecp2 Mutant Mice: Implication for Therapy in Rett Syndrome". Science Translational Medicine. 3 (113): 113ra125. doi:10.1126/scitranslmed.3002982. ISSN 1946-6234. PMC 3633081. PMID 22174313.
Mackay J, Downs J, Wong K, Heyworth J, Epstein A, Leonard H (2017). "Autonomic breathing abnormalities in Rett syndrome: caregiver perspectives in an international database study". Journal of Neurodevelopmental Disorders. 9: 15. doi:10.1186/s11689-017-9196-7. ISSN 1866-1947. PMC 5410057. PMID 28465761.
Kyle SM, Vashi N, Justice MJ (February 2018). "Rett syndrome: a neurological disorder with metabolic components". Open Biology. 8 (2): 170216. doi:10.1098/rsob.170216. ISSN 2046-2441. PMC 5830535. PMID 29445033.
De Felice C, Maffei S, Signorini C, Leoncini S, Lunghetti S, Valacchi G, et al. (April 2012). "Subclinical myocardial dysfunction in Rett syndrome". European Heart Journal: Cardiovascular Imaging. 13 (4): 339–345. doi:10.1093/ejechocard/jer256. ISSN 2047-2412. PMID 22113206. Archived from the original on 29 November 2021. Retrieved 29 November 2021.
Smeets EE, Julu PO, Waardenburg Dv, Engerström IW, Hansen S, Apartopoulos F, et al. (1 November 2006). "Management of a severe forceful breather with Rett Syndrome using carbogen". Brain and Development. 28 (10): 625–632. doi:10.1016/j.braindev.2006.04.010. ISSN 0387-7604. PMID 16765005. S2CID 15545729. Archived from the original on 1 October 2022. Retrieved 29 November 2021.
Keam SJ (June 2023). "Trofinetide: First Approval". Drugs. 83 (9): 819–824. doi:10.1007/s40265-023-01883-8. PMID 37191913. S2CID 258715933.
Schwartzman JS, Bernardino A, Nishimura A, Gomes RR, Zatz M (2001). "Rett Syndrome in a Boy with a 47,XXY Karyotype Confirmed by a Rare Mutation in the MECP2 Gene". Neuropediatrics. 32 (3): 162–4. doi:10.1055/s-2001-16620. PMID 11521215. S2CID 260240039.
Hardwick SA, Reuter K, Williamson SL, Vasudevan V, Donald J, Slater K, et al. (2007). "Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband". European Journal of Human Genetics. 15 (12): 1218–29. doi:10.1038/sj.ejhg.5201911. PMID 17712354.
Acampa M, Guideri F (May 2006). "Cardiac disease and Rett syndrome". Archives of Disease in Childhood. 91 (5): 440–443. doi:10.1136/adc.2005.090290. ISSN 1468-2044. PMC 2082747. PMID 16632674.
Rett A (10 September 1966). "[On an unusual brain atrophy syndrome in hyperammonemia in childhood]". Wiener Medizinische Wochenschrift (in German). 116 (37): 723–726. ISSN 0043-5341. PMID 5300597.

ncbi.nlm.nih.gov

Percy A (January 2014). "The American History of Rett Syndrome". Pediatric Neurology. 50 (1): 1–3. doi:10.1016/j.pediatrneurol.2013.08.018. PMC 3874243. PMID 24200039.
Neul Jl, Kaufmann WE, Glaze DG, Christodoulou J, Clarke AJ, Bahi-Buisson N, et al. (Rettsearch Consortium) (2010). "Rett syndrome: Revised diagnostic criteria and nomenclature". Annals of Neurology. 68 (6): 944–50. doi:10.1002/ana.22124. PMC 3058521. PMID 21154482.
Ariani F, Hayek G, Rondinella D, Artuso R, Mencarelli MA, Spanhol-Rosseto A, et al. (11 July 2008). "FOXG1 is Responsible for the Congenital Variant of Rett Syndrome". The American Journal of Human Genetics. 83 (1): 89–93. doi:10.1016/j.ajhg.2008.05.015. PMC 2443837. PMID 18571142.
Neul JL, Kaufmann WE, Glaze DG, Christodoulou J, Clarke AJ, Bahi-Buisson N, et al. (2010). "Rett Syndrome: Revised Diagnostic Criteria and Nomenclature". Annals of Neurology. 68 (6): 944–950. doi:10.1002/ana.22124. ISSN 0364-5134. PMC 3058521. PMID 21154482.
Fahmi M, Yasui G, Seki K, Katayama S, Kaneko-Kawano T, Inazu T, et al. (2019). "In Silico Study of Rett Syndrome Treatment-Related Genes, MECP2, CDKL5, and FOXG1, by Evolutionary Classification and Disordered Region Assessment". International Journal of Molecular Sciences. 20 (22): 5593. doi:10.3390/ijms20225593. ISSN 1422-0067. PMC 6888432. PMID 31717404.
Cutri-French C, Armstrong D, Saby J, Gorman C, Lane J, Fu C, et al. (2020). "Comparison of core features in four Developmental Encephalopathies in the Rett Natural History Study". Annals of Neurology. 88 (2): 396–406. doi:10.1002/ana.25797. ISSN 0364-5134. PMC 8882337. PMID 32472944.
Guy J, Gan J, Selfridge J, Cobb S, Bird A (2007). "Reversal of Neurological Defects in a Mouse Model of Rett Syndrome". Science. 315 (5815): 1143–7. Bibcode:2007Sci...315.1143G. doi:10.1126/science.1138389. PMC 7610836. PMID 17289941. S2CID 25172134.
Trappe R, Laccone F, Cobilanschi J, Meins M, Huppke P, Hanefeld F, et al. (2001). "MECP2 Mutations in Sporadic Cases of Rett Syndrome Are Almost Exclusively of Paternal Origin". The American Journal of Human Genetics. 68 (5): 1093–101. doi:10.1086/320109. PMC 1226090. PMID 11309679.
Taneja P, Ogier M, Brooks-Harris G, Schmid DA, Katz DM, Nelson SB (2009). "Pathophysiology of Locus Ceruleus Neurons in a Mouse Model of Rett Syndrome". Journal of Neuroscience. 29 (39): 12187–95. doi:10.1523/JNEUROSCI.3156-09.2009. PMC 2846656. PMID 19793977.
Cheval H, Guy J, Merusi C, De Sousa D, Selfridge J, Bird A (2012). "Postnatal inactivation reveals enhanced requirement for MeCP2 at distinct age windows". Human Molecular Genetics. 21 (17): 3806–14. doi:10.1093/hmg/dds208. PMC 3412380. PMID 22653753.
Samaco RC, Mandel-Brehm C, Chao HT, Ward CS, Fyffe-Maricich SL, Ren J, et al. (2009). "Loss of MeCP2 in aminergic neurons causes cell-autonomous defects in neurotransmitter synthesis and specific behavioral abnormalities". Proceedings of the National Academy of Sciences. 106 (51): 21966–71. Bibcode:2009PNAS..10621966S. doi:10.1073/pnas.0912257106. JSTOR 40536204. PMC 2799790. PMID 20007372.
Sharifi O, Yasui DH (2021). "The Molecular Functions of MeCP2 in Rett Syndrome Pathology". Frontiers in Genetics. 12: 624290. doi:10.3389/fgene.2021.624290. PMC 8102816. PMID 33968128.
Ehrhart F, Coort SL, Cirillo E, Smeets E, Evelo CT, Curfs LM (25 November 2016). "Rett syndrome – biological pathways leading from MECP2 to disorder phenotypes". Orphanet Journal of Rare Diseases. 11 (1): 158. doi:10.1186/s13023-016-0545-5. PMC 5123333. PMID 27884167.
Neul JL (2012). "The relationship of Rett syndrome and MECP2 disorders to autism". Dialogues in Clinical Neuroscience. 14 (3): 253–262. doi:10.31887/DCNS.2012.14.3/jneul. ISSN 1294-8322. PMC 3513680. PMID 23226951.
McCauley MD, Wang T, Mike E, Herrera J, Beavers DL, Huang TW, et al. (14 December 2011). "Pathogenesis of Lethal Cardiac Arrhythmias in Mecp2 Mutant Mice: Implication for Therapy in Rett Syndrome". Science Translational Medicine. 3 (113): 113ra125. doi:10.1126/scitranslmed.3002982. ISSN 1946-6234. PMC 3633081. PMID 22174313.
Mackay J, Downs J, Wong K, Heyworth J, Epstein A, Leonard H (2017). "Autonomic breathing abnormalities in Rett syndrome: caregiver perspectives in an international database study". Journal of Neurodevelopmental Disorders. 9: 15. doi:10.1186/s11689-017-9196-7. ISSN 1866-1947. PMC 5410057. PMID 28465761.
Kyle SM, Vashi N, Justice MJ (February 2018). "Rett syndrome: a neurological disorder with metabolic components". Open Biology. 8 (2): 170216. doi:10.1098/rsob.170216. ISSN 2046-2441. PMC 5830535. PMID 29445033.
Acampa M, Guideri F (May 2006). "Cardiac disease and Rett syndrome". Archives of Disease in Childhood. 91 (5): 440–443. doi:10.1136/adc.2005.090290. ISSN 1468-2044. PMC 2082747. PMID 16632674.

ghr.nlm.nih.gov

"Rett syndrome". Genetics Home Reference. December 2013. Archived from the original on 14 October 2017. Retrieved 14 October 2017.
"Rett syndrome". Genetics Home Reference. Archived from the original on 27 July 2016. Retrieved 29 May 2016.

meshb.nlm.nih.gov

"MeSH Browser". meshb.nlm.nih.gov. Archived from the original on 4 December 2020. Retrieved 22 October 2019.

ninds.nih.gov

"Rett Syndrome Fact Sheet". National Institute of Neurological Disorders and Stroke. Archived from the original on 14 October 2017. Retrieved 14 October 2017.

dailymed.nlm.nih.gov

"Daybue- trofinetide solution". DailyMed. 29 March 2023. Archived from the original on 2 July 2023. Retrieved 20 November 2023.

rarediseases.org

"Rett Syndrome". NORD (National Organization for Rare Disorders). 2015. Archived from the original on 19 February 2017. Retrieved 14 October 2017.
"Rett Syndrome - Symptoms, Causes, Treatment | NORD". rarediseases.org. Retrieved 5 February 2024.

rchsd.org

"Rett Syndrome | Rady Children's Hospital". www.rchsd.org. Retrieved 5 February 2024.

rettsyndrome.org

"About Rett syndrome - Rett Syndrome Diagnosis". rettsyndrome.org. International Rett Syndrome Foundation. Archived from the original on 29 October 2017. Retrieved 10 May 2020.

semanticscholar.org

api.semanticscholar.org

Amir R, Van den Veyver I, Wan M, Tran C, Francke U, Zoghbi H (1999). "Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2". Nature Genetics. 23 (2): 185–8. doi:10.1038/13810. PMID 10508514. S2CID 3350350.
Zappella M (1992). "The rett girls with preserved speech". Brain and Development. 14 (2): 98–101. doi:10.1016/S0387-7604(12)80094-5. PMID 1621933. S2CID 4782923.
Skjeldal OH, Von Tetzchner S, Jacobsen K, Smith L, Heiberg A (2007). "Rett Syndrome - Distribution of Phenotypes with Special Attention to the Preserved Speech Variant". Neuropediatrics. 26 (2): 87. doi:10.1055/s-2007-979732. PMID 7566462. S2CID 260243402.
Renieri A, Mari F, Mencarelli M, Scala E, Ariani F, Longo I, et al. (March 2009). "Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant)". Brain and Development. 31 (3): 208–16. doi:10.1016/j.braindev.2008.04.007. PMID 18562141. S2CID 6223422.
Buoni S, Zannolli R, De Felice C, De Nicola A, Guerri V, Guerra B, et al. (May 2010). "EEG features and epilepsy in MECP2-mutated patients with the Zappella variant of Rett syndrome". Clinical Neurophysiology. 121 (5): 652–7. doi:10.1016/j.clinph.2010.01.003. PMID 20153689. S2CID 12976926.
Huppke P, Held M, Laccone F, Hanefeld F (2003). "The spectrum of phenotypes in females with Rett Syndrome". Brain and Development. 25 (5): 346–51. doi:10.1016/S0387-7604(03)00018-4. PMID 12850514. S2CID 9566219.
Zappella M, Gillberg C, Ehlers S (1998). "The preserved speech variant: A subgroup of the Rett complex: A clinical report of 30 cases". Journal of Autism and Developmental Disorders. 28 (6): 519–26. doi:10.1023/A:1026052128305. PMID 9932238. S2CID 22152062.
Guy J, Gan J, Selfridge J, Cobb S, Bird A (2007). "Reversal of Neurological Defects in a Mouse Model of Rett Syndrome". Science. 315 (5815): 1143–7. Bibcode:2007Sci...315.1143G. doi:10.1126/science.1138389. PMC 7610836. PMID 17289941. S2CID 25172134.
Zoghbi HY, Van Den Veyver RE, Wan IB, Tran M, Francke CQ, Zoghbi U (1999). "Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2". Nature Genetics. 23 (2): 185–8. doi:10.1038/13810. PMID 10508514. S2CID 3350350.
Merwick A, O'Brien M, Delanty N (2012). "Complex single gene disorders and epilepsy". Epilepsia. 53 (s4): 81–91. doi:10.1111/j.1528-1167.2012.03617.x. ISSN 1528-1167. PMID 22946725. S2CID 37226510.
Zoghbi HY, Milstien S, Butler IJ, Smith EO, Kaufman S, Glaze DG, et al. (1989). "Cerebrospinal fluid biogenic amines and biopterin in Rett syndrome". Annals of Neurology. 25 (1): 56–60. doi:10.1002/ana.410250109. PMID 2913929. S2CID 351243.
Roux JC, Villard L (2009). "Biogenic Amines in Rett Syndrome: The Usual Suspects". Behavior Genetics. 40 (1): 59–75. doi:10.1007/s10519-009-9303-y. PMID 19851857. S2CID 20352177.
Berridge CW, Waterhouse BD (2003). "The locus coeruleus–noradrenergic system: Modulation of behavioral state and state-dependent cognitive processes". Brain Research Reviews. 42 (1): 33–84. doi:10.1016/S0165-0173(03)00143-7. PMID 12668290. S2CID 477754.
Roux JC, Panayotis N, Dura E, Villard L (2009). "Progressive noradrenergic deficits in the locus coeruleus of Mecp2 deficient mice". Journal of Neuroscience Research. 88 (7): 1500–9. doi:10.1002/jnr.22312. PMID 19998492. S2CID 3404695.
Björklund A, Dunnett SB (2007). "Dopamine neuron systems in the brain: An update". Trends in Neurosciences. 30 (5): 194–202. doi:10.1016/j.tins.2007.03.006. PMID 17408759. S2CID 14239716.
Parent A, Hazrati LN (1995). "Functional anatomy of the basal ganglia. I. The cortico-basal ganglia-thalamo-cortical loop". Brain Research Reviews. 20 (1): 91–127. doi:10.1016/0165-0173(94)00007-C. PMID 7711769. S2CID 28252990.
Gerfen CR (2000). "Molecular effects of dopamine on striatal-projection pathways". Trends in Neurosciences. 23 (10 Suppl): S64–70. doi:10.1016/S1471-1931(00)00019-7. PMID 11052222. S2CID 3965480.
Lees AJ, Hardy J, Revesz T (2009). "Parkinson's disease". The Lancet. 373 (9680): 2055–66. doi:10.1016/S0140-6736(09)60492-X. PMID 19524782. S2CID 42608600.
Dauer W, Przedborski S (2003). "Parkinson's Disease". Neuron. 39 (6): 889–909. doi:10.1016/S0896-6273(03)00568-3. PMID 12971891. S2CID 10400095.
Jenner P (2009). "Functional models of Parkinson's disease: A valuable tool in the development of novel therapies". Annals of Neurology. 64: S16–29. doi:10.1002/ana.21489. PMID 19127585. S2CID 26065287.
Fitzgerald PM, Jankovic J, Percy AK (1990). "Rett syndrome and associated movement disorders". Movement Disorders. 5 (3): 195–202. doi:10.1002/mds.870050303. PMID 2388636. S2CID 43376602.
Neul JL, Zoghbi HY (2004). "Rett Syndrome: A Prototypical Neurodevelopmental Disorder". The Neuroscientist. 10 (2): 118–28. doi:10.1177/1073858403260995. PMID 15070486. S2CID 9617631.
Segawa M (2005). "Early motor disturbances in Rett syndrome and its pathophysiological importance". Brain and Development. 27: S54 – S58. doi:10.1016/j.braindev.2004.11.010. PMID 16182486. S2CID 30218744.
Guy J, Hendrich B, Holmes M, Martin JE, Bird A (2001). "A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome". Nature Genetics. 27 (3): 322–6. doi:10.1038/85899. hdl:1842/727. PMID 11242117. S2CID 8698208.
Chen RZ, Akbarian S, Tudor M, Jaenisch R (2001). "Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice". Nature Genetics. 27 (3): 327–31. doi:10.1038/85906. PMID 11242118. S2CID 24979562.
Nan X, Ng HH, Johnson CA, Laherty CD, Turner BM, Eisenman RN, et al. (1998). "Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex". Nature. 393 (6683): 386–9. Bibcode:1998Natur.393..386N. doi:10.1038/30764. PMID 9620804. S2CID 4427745.
Ricceri L, De Filippis B, Laviola G (2008). "Mouse models of Rett syndrome: From behavioural phenotyping to preclinical evaluation of new therapeutic approaches". Behavioural Pharmacology. 19 (5–6): 501–17. doi:10.1097/FBP.0b013e32830c3645. PMID 18690105. S2CID 33364486.
Panayotis N, Pratte M, Borges-Correia A, Ghata A, Villard L, Roux JC (2011). "Morphological and functional alterations in the substantia nigra pars compacta of the Mecp2-null mouse". Neurobiology of Disease. 41 (2): 385–97. doi:10.1016/j.nbd.2010.10.006. PMID 20951208. S2CID 25414717.
Tsai LY (1992). "Is Rett syndrome a subtype of pervasive developmental disorders?" (PDF). Journal of Autism and Developmental Disorders. 22 (4): 551–61. doi:10.1007/BF01046327. hdl:2027.42/44607. PMID 1483976. S2CID 17817425. Archived from the original on 29 August 2021. Retrieved 20 April 2018.
Abbeduto L, Ozonoff S, Thurman AJ, McDuffie A, Schweitzer J (18 March 2014). Hales R, Yudofsky S, Robert LW (eds.). Chapter 8. Neurodevelopmental Disorders, The American Psychiatric Publishing Textbook of Psychiatry (6 ed.). Arlington, VA: American Psychiatric Publishing. doi:10.1176/appi.books.9781585625031.rh08. ISBN 978-1-58562-444-7. S2CID 241966275.
Smeets EE, Julu PO, Waardenburg Dv, Engerström IW, Hansen S, Apartopoulos F, et al. (1 November 2006). "Management of a severe forceful breather with Rett Syndrome using carbogen". Brain and Development. 28 (10): 625–632. doi:10.1016/j.braindev.2006.04.010. ISSN 0387-7604. PMID 16765005. S2CID 15545729. Archived from the original on 1 October 2022. Retrieved 29 November 2021.
Keam SJ (June 2023). "Trofinetide: First Approval". Drugs. 83 (9): 819–824. doi:10.1007/s40265-023-01883-8. PMID 37191913. S2CID 258715933.
Schwartzman JS, Bernardino A, Nishimura A, Gomes RR, Zatz M (2001). "Rett Syndrome in a Boy with a 47,XXY Karyotype Confirmed by a Rare Mutation in the MECP2 Gene". Neuropediatrics. 32 (3): 162–4. doi:10.1055/s-2001-16620. PMID 11521215. S2CID 260240039.

tayshagtx.com

ir.tayshagtx.com

"Taysha Gene Therapies Announces Initiation of Clinical Development of TSHA-102 in Rett Syndrome". Taysha Gene Therapies. March 2022. Archived from the original on 30 March 2022. Retrieved 6 May 2022.

umich.edu

deepblue.lib.umich.edu

Tsai LY (1992). "Is Rett syndrome a subtype of pervasive developmental disorders?" (PDF). Journal of Autism and Developmental Disorders. 22 (4): 551–61. doi:10.1007/BF01046327. hdl:2027.42/44607. PMID 1483976. S2CID 17817425. Archived from the original on 29 August 2021. Retrieved 20 April 2018.

web.archive.org

Davis AS (25 October 2010). Handbook of Pediatric Neuropsychology. Springer Publishing Company. p. 703. ISBN 978-0826157362. Archived from the original on 5 November 2017. Rett initially called this syndrome cerebroaatrophic hyperammonemia, but the elevated ammonia levels in the bloodstream were later found to be only rarely associated with this condition (can Acker, Loncola, & Can Acker, 2005).
"MeSH Browser". meshb.nlm.nih.gov. Archived from the original on 4 December 2020. Retrieved 22 October 2019.
"Rett syndrome". Genetics Home Reference. December 2013. Archived from the original on 14 October 2017. Retrieved 14 October 2017.
"Rett Syndrome Fact Sheet". National Institute of Neurological Disorders and Stroke. Archived from the original on 14 October 2017. Retrieved 14 October 2017.
"Rett Syndrome". NORD (National Organization for Rare Disorders). 2015. Archived from the original on 19 February 2017. Retrieved 14 October 2017.
"Rett syndrome". Genetics Home Reference. Archived from the original on 27 July 2016. Retrieved 29 May 2016.
Tsai LY (1992). "Is Rett syndrome a subtype of pervasive developmental disorders?" (PDF). Journal of Autism and Developmental Disorders. 22 (4): 551–61. doi:10.1007/BF01046327. hdl:2027.42/44607. PMID 1483976. S2CID 17817425. Archived from the original on 29 August 2021. Retrieved 20 April 2018.
"Rett syndrome Tests and diagnosis". Mayo Clinic. Archived from the original on 30 October 2017.
"About Rett syndrome - Rett Syndrome Diagnosis". rettsyndrome.org. International Rett Syndrome Foundation. Archived from the original on 29 October 2017. Retrieved 10 May 2020.
De Felice C, Maffei S, Signorini C, Leoncini S, Lunghetti S, Valacchi G, et al. (April 2012). "Subclinical myocardial dysfunction in Rett syndrome". European Heart Journal: Cardiovascular Imaging. 13 (4): 339–345. doi:10.1093/ejechocard/jer256. ISSN 2047-2412. PMID 22113206. Archived from the original on 29 November 2021. Retrieved 29 November 2021.
Smeets EE, Julu PO, Waardenburg Dv, Engerström IW, Hansen S, Apartopoulos F, et al. (1 November 2006). "Management of a severe forceful breather with Rett Syndrome using carbogen". Brain and Development. 28 (10): 625–632. doi:10.1016/j.braindev.2006.04.010. ISSN 0387-7604. PMID 16765005. S2CID 15545729. Archived from the original on 1 October 2022. Retrieved 29 November 2021.
"Daybue- trofinetide solution". DailyMed. 29 March 2023. Archived from the original on 2 July 2023. Retrieved 20 November 2023.
"FDA approves first treatment for Rett Syndrome". U.S. Food and Drug Administration (FDA). 13 March 2023. Archived from the original on 13 March 2023. Retrieved 13 March 2023. This article incorporates text from this source, which is in the public domain.
New Drug Therapy Approvals 2023 (PDF). U.S. Food and Drug Administration (FDA) (Report). January 2024. Archived from the original on 10 January 2024. Retrieved 9 January 2024.
"Taysha Gene Therapies Announces Initiation of Clinical Development of TSHA-102 in Rett Syndrome". Taysha Gene Therapies. March 2022. Archived from the original on 30 March 2022. Retrieved 6 May 2022.

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Sørensen E, Viken B (20 February 1995). "[Rett syndrome a developmental disorder. Presentation of a variant with preserved speech]". Tidsskrift for den Norske Laegeforening (in Norwegian). 115 (5): 588–590. ISSN 0029-2001. PMID 7900110.
Neul JL, Kaufmann WE, Glaze DG, Christodoulou J, Clarke AJ, Bahi-Buisson N, et al. (2010). "Rett Syndrome: Revised Diagnostic Criteria and Nomenclature". Annals of Neurology. 68 (6): 944–950. doi:10.1002/ana.22124. ISSN 0364-5134. PMC 3058521. PMID 21154482.
Fahmi M, Yasui G, Seki K, Katayama S, Kaneko-Kawano T, Inazu T, et al. (2019). "In Silico Study of Rett Syndrome Treatment-Related Genes, MECP2, CDKL5, and FOXG1, by Evolutionary Classification and Disordered Region Assessment". International Journal of Molecular Sciences. 20 (22): 5593. doi:10.3390/ijms20225593. ISSN 1422-0067. PMC 6888432. PMID 31717404.
Cutri-French C, Armstrong D, Saby J, Gorman C, Lane J, Fu C, et al. (2020). "Comparison of core features in four Developmental Encephalopathies in the Rett Natural History Study". Annals of Neurology. 88 (2): 396–406. doi:10.1002/ana.25797. ISSN 0364-5134. PMC 8882337. PMID 32472944.
Merwick A, O'Brien M, Delanty N (2012). "Complex single gene disorders and epilepsy". Epilepsia. 53 (s4): 81–91. doi:10.1111/j.1528-1167.2012.03617.x. ISSN 1528-1167. PMID 22946725. S2CID 37226510.
Neul JL (2012). "The relationship of Rett syndrome and MECP2 disorders to autism". Dialogues in Clinical Neuroscience. 14 (3): 253–262. doi:10.31887/DCNS.2012.14.3/jneul. ISSN 1294-8322. PMC 3513680. PMID 23226951.
McCauley MD, Wang T, Mike E, Herrera J, Beavers DL, Huang TW, et al. (14 December 2011). "Pathogenesis of Lethal Cardiac Arrhythmias in Mecp2 Mutant Mice: Implication for Therapy in Rett Syndrome". Science Translational Medicine. 3 (113): 113ra125. doi:10.1126/scitranslmed.3002982. ISSN 1946-6234. PMC 3633081. PMID 22174313.
Mackay J, Downs J, Wong K, Heyworth J, Epstein A, Leonard H (2017). "Autonomic breathing abnormalities in Rett syndrome: caregiver perspectives in an international database study". Journal of Neurodevelopmental Disorders. 9: 15. doi:10.1186/s11689-017-9196-7. ISSN 1866-1947. PMC 5410057. PMID 28465761.
Kyle SM, Vashi N, Justice MJ (February 2018). "Rett syndrome: a neurological disorder with metabolic components". Open Biology. 8 (2): 170216. doi:10.1098/rsob.170216. ISSN 2046-2441. PMC 5830535. PMID 29445033.
De Felice C, Maffei S, Signorini C, Leoncini S, Lunghetti S, Valacchi G, et al. (April 2012). "Subclinical myocardial dysfunction in Rett syndrome". European Heart Journal: Cardiovascular Imaging. 13 (4): 339–345. doi:10.1093/ejechocard/jer256. ISSN 2047-2412. PMID 22113206. Archived from the original on 29 November 2021. Retrieved 29 November 2021.
Smeets EE, Julu PO, Waardenburg Dv, Engerström IW, Hansen S, Apartopoulos F, et al. (1 November 2006). "Management of a severe forceful breather with Rett Syndrome using carbogen". Brain and Development. 28 (10): 625–632. doi:10.1016/j.braindev.2006.04.010. ISSN 0387-7604. PMID 16765005. S2CID 15545729. Archived from the original on 1 October 2022. Retrieved 29 November 2021.
Acampa M, Guideri F (May 2006). "Cardiac disease and Rett syndrome". Archives of Disease in Childhood. 91 (5): 440–443. doi:10.1136/adc.2005.090290. ISSN 1468-2044. PMC 2082747. PMID 16632674.
Rett A (10 September 1966). "[On an unusual brain atrophy syndrome in hyperammonemia in childhood]". Wiener Medizinische Wochenschrift (in German). 116 (37): 723–726. ISSN 0043-5341. PMID 5300597.