[1] Rett A. "On a unusual brain atrophy syndrome with hyperammonemia in childhood". Wein Med Wochenschr, 1966.
[2] Hagberg B. "Rett syndrome: Clinical and Biological aspect." London: Mac Keith, 1993.
[3] Fombonne E., Simmons H., Ford T., Meltzer H., Goodman R. "Prevalence of pervasive of developmental disorders in the British nationwide survey of child mental healt". Int Rev Psychiat, 2003.
[4] Ellaway C., Christodoulou J. "Rett syndrome: Clinical characteristic and recent genetic advances". Disabil Rehabil, 2001.
[5] Cass H., Reilly S., Owen L., Wisbeach A., Weekes L., Slonims V., Wigram T., Charman T. "Findings from a multidisciplinary clinical case series of female with Rett syndrome". Developmental medicine & child neurology, 2003.
[6] Neul J., Kaufmann W., Glaze D., Christoduoulou J., Clarke A. Bahi-Buisson N., Leonard H., Bailey M., Schanen C., Zappella M., Renieri A., Huppke P., Percy A. "Rett syndrome: Revised diagnostic criteria and nomenclature". Annals of Neurology, 2010.
[7] Burford B. "Identifying early signs of Rett disorder and their implications for development". Lecture presented at "International course on Rett syndrome", Sweden, 2003
[8] Einspieler C. "Signs of Rett disorder in the first six month of life". Lecture presented at "International course on Rett syndrome", Sweden, 2003.
[9] Einspieler C., Kerr A. M., Prechtl H. "Is the early development of girl with Rett disorder really normal?". Pediatr Res, 2005.
[10] Marschik P.B., Sigafoos J., Kaufmann W., Wolin T., Talisa V.B., Bartl- Pokorny K.D., Budimirovic B., Vollmann R., Einspieler C. "Peculiarities in the gestural repertoire: an early marker for Rett syndrome?". Res Dev Disabil, 2012.
[11] Bartl-Pokorny K.D., Marschik P.B., Sigafoos J., Tager-Flusberg H., Kaufmann W., Grossmann T., Einspieler C. " Early socio-communicative forms and functions in typical Rett syndrome". Res Dev Disabil, 2013.
[13] Kirby R., Lane J., Childers J., Skinner S., Annese F., Barrish J., Glaze D., MacLeod P., Percy A. "Longevity in Rett Syndrome: Analysis of the North American Database". The Journal of pediatrics, 2009.
[14] Hagberg B., Goutieres f., Hanefeld f., Rett A., Wilson J. "Rett syndrome: criteria for inclusion and esclusion". Brain Dev, 1985.
[15] The Rett Syndrome Diagnostic Criteria Group "Diagnostic criteria for Rett syndrome". Ann Neurol, 1988.
[16] Percy A., Neul J., Glaze D., Motil K., Skinner S., Khwaja O., Lee H-S., Lane J., Barrish J., Annese F., McNair L., Graham J., Barnes K. "Rett syndrome diagnostic criteria: lessons from the natural history study". Ann. Neurol, 2010.
[17] Hagberg B., Hanefeld F., Percy A., Skjeldal O. "An update on clinically applicable diagnostic criteria in Rett syndrome". European Journal of Paediatric Neurology, 2002.
[18] Percy A., Lane J., Childers J., Skinner S., Annese F., Barrish J., Caeg E., Glaze D., MacLeod P. "Rett syndrome: North American database". J Child Neurol, 2007.
[19] Rolando S. "Rett syndrome: report of eight cases". Brain Dev, 1985.
[20] Ariani F., Hayek G., Rondinella D., Artuso R., Mencarelli M.A., Rosseto A., Pollazzon M., Buoni S., Spiga O., Ricciardi S, Meloni I., Longo I., Mari F., Broccoli V., Zappella M., Renieri A. "FOXG1 is responsible for the congenital variant of Rett syndrome". Am J Hum Genet, 2008.
[21] Hanefeld F. "The clinical pattern of the Rett syndrome". Brain Dev, 1985.
[22] Weaving L., Christodoulou J., Williamson S., Friend K., McKenzie O., Archer H., Evans J., Clarke A., Pelka G., Tam P., Watson C., Lahooti H., Ellaway C., Bennetts B., Leonard H., Gécz J. " Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation". Am J Hum Genet, 2004.
[23] Zappella M. "The Rett girls with preserved speech". Brain Dev, 1992.
[24] Renieri A., Mari F., Mencarelli M., Scala E., Ariani F., Longo I., Meloni I., Cevenini G., Pini G., Hayek G., Zappella M. " Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant)". Brain Dev, 2009.
[25] Hagberg B., Rasmussen P. "Forme fruste" of Rett syndrome - a case report". Am J Med Genet Suppl, 1986.
[26] Dotti M.T., Orrico A., De Stefano N., Battisti C., Sicurelli F., Severi S. et al. "A Rett syndrome MECP2 mutation that causes mental retardation in men". Neurol, 2002.
[27] Marcu S., Nissenkorn A., Lerman-Sagie T., Menascu S., Landau D., Shorer Z. et al. "MECP2 gene rearrangement in five males in the Rett Israeli Cohort". Presented at the international conference of the Asian Society for Child Neurology, 2010.
[28] Hagberg B., Aicardi J., Dias K., Ramos O. "A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases". Ann Neurol, 1983.
[29] Archidiacono N., Lerone M., Rocchi M., Anvret M., Ozcelik T., Francke U., Romeo G. " Rett syndrome: exclusion mapping following the hypothesis of germinal mosaicism for new X-linked mutations". Hum Genet, 1991.
[30] Sirianni N., Naidu S., Pereira J., Pillotto R.F., Hoffman E.P. " Rett syndrome: confirmation of X-linked dominant inheritance, and localization of the gene to Xq28". Am J Hum Genet, 1998.
[31] Amir R.E., Van den Veyver I.B., Wan M., Tran C.Q., Francke U., Zoghbi H.Y. " Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2". Nat Genet, 1999.
[32] Charman T., Neilson T., Mash V., Archer H., Gardiner M.T., Knudsen G.P., McDonnell A., Perry J., Whatley S.D., Bunyan D.J., Ravn K., Mount R.H., Hastings R.P., Hulten M., Ørstavik K. e H., Reilly S., Cass H., Clarke A., Kerr A.M., Bailey M.E.. “Dimensional phenotypic analysis and functional categorisation of mutations reveal novel genotype–phenotype associations in Rett syndrome”. European Journal of Human Genetics 2005.
[34] Bienvenu T., Carrié A., De Roux N., Vinet M.C., Jonveaux P., Couvert P., Villard L., Arzimanoglou A., Beldjord C., Fontes M., Tardieu M., Chelly J. “MECP2 mutations account for most cases of typical forms of Rett syndrome”. Hum Mol Genet. 2000.
[35] Bienvenu T., Villard L., De Roux N., Bourdon V., Fontes M., Beldjord C., Tardieu M., Jonveaux P., Chelly J. French Consortium for MECP2 Gene Analysis. “Spectrum of MECP2 mutations in Rett syndrome”. Genet Test 2002.
[36] Amir RE, Zoghbi HY. “Rett syndrome: methyl-CpG-binding protein 2 mutations and phenotype-genotype correlations”. Am J Med Genet. 2000.
[37] Cheadle JP, Gill H, Fleming N, Maynard J, Kerr A, Leonard H, Krawczak M, Cooper DN, Lynch S, Thomas N, Hughes H, Hulten M, Ravine D, Sampson JR, Clarke A. “Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location.” Hum Mol Genet. 2000.
[38] Armstrong J., Pineda M., Aibar E., Geán E., Monrós E. “Classic Rett syndrome in a boy as a result of somatic mosaicism for a MECP2 mutation.” Ann Neurol. 2001.
[39] Huppke P, Laccone F, Krämer N, Engel W, Hanefeld F. “Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients”. Hum Mol Genet. 2000.
[40] Nielsen JB, Henriksen KF, Hansen C, Silahtaroglu A, Schwartz M, Tommerup N. “MECP2 mutations in Danish patients with Rett syndrome: high frequency of mutations but no consistent correlations with clinical severity or with the X chromosome inactivation pattern”. European Journal of Human Genetics, 2001.
[41] Thomas G. H. “High male:female ratio of germ-line mutations: an alternative explanation for postulated gestational lethality in males in X-linked dominant disorders”. Am J Hum Genet. 1996.
[42] Girard M, Couvert P, Carrié A, Tardieu M, Chelly J, Beldjord C, Bienvenu T. “Parental origin of de novo MECP2 mutations in Rett syndrome”. Eur J Hum Genet. 2001.
[43] Trappe R., Laccone F., Cobilanschi J., Meins M., Huppke P., Hanefeld F., Engel W. “MECP2 Mutations in Sporadic Cases of Rett Syndrome Are Almost Exclusively of Paternal Origin”. Am J Hum Genet. 2001.
[44] Tesi di laurea di Bagnaresi Eleonora. “La sindrome di Rett, un paradigma dell'importanza della metilazione del DNA per un corretto funzionamento del Sistema Nervoso Centrale”.
[45] Sun Y.E., Wu H. “The Ups and Downs of BDNF in Rett Syndrome”. Neuron, 2006.
[46] Ballas N., Lioy D.T., Grunseich C., Mandel G. “Non-cell autonomous influence of MeCP2-deficient glia on neuronal dendritic morphology”. Nat Neurosci, 2009.
[47] Maezawa I, Swanberg S, Harvey D, LaSalle JM, Jin LW. “Rett syndrome astrocytes are abnormal and spread MeCP2 deficiency through gap junctions”. J Neurosci, 2009.
[48] Lioy DT, Garg SK, Monaghan CE, Raber J, Foust KD, Kaspar BK, Hirrlinger PG, Kirchhoff F, Bissonnette JM, Ballas N, Mandel G. “A role for glia in the progression of Rett's syndrome”. Nature, 2011.
[49] Young J.I., Hong E.P., Castle J.C., Crespo-Barreto J., Bowman A.B., Rose M.F., Kang D., Richman R., Johnson J.M., Berget S., Zoghbi H.Y. “Regulation of RNA splicing by the methylation-dependent transcriptional repressor methyl-CpG binding protein 2”. PNAS, 2005.
[50] Chen Q., Zhu Y.C., Yu J., Miao S., Zheng J., Xu L., Zhou Y., Li D., Zhang C., Tao J., Xiong Z.Q. “CDKL5, a protein associated with rett syndrome, regulates neuronal morphogenesis via Rac1 signaling”. J Neurosci, 2010.
[51] Atti del Congresso AIRett del 5 Giugno 2009. “I meccanismi genetico- molecolari alla base della sindrome di Rett”. www.airett/i_meccanismi_genetico_molecolari_alla_base_della_sindrome_di_ret t .
[52] Manuel M., Martynoga B., Yu T., West J.D., Mason J.O., Price D.J. “the transcription factor FoxG1 regulates the competence of telencephalic cells to adopt subpallial fates in mice”. Development, 2010.
[55] Kortüm F, Das S, Flindt M, Morris-Rosendahl DJ, Stefanova I, Goldstein A, Horn D, Klopocki E, Kluger G, Martin P, Rauch A, Roumer A, Saitta S, Walsh LE, Wieczorek D, Uyanik G, Kutsche K, Dobyns WB. “The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis”. J Med Genet., 2011.
[66] Atti della “2nd European Rett Syndrome Conference”. Edinburg, Scotland - October 7th-10th, 2010
[67] Nomura Y, Segawa M. “Motor symptoms of the Rett syndrome: abnormal muscle tone, posture, locomotion and stereotyped movement”. Brain Dev, 1992.
[68] Lotan M, Ben-Zeev B. “Rett Syndrome. A Review with Emphasis on Clinical Characteristics and Intervention”. The Scientific World Journal, 2006.
[69] Kerr A.M., Engerstrom W., “Rett disorder and the developing brain”. Libro, 2001.
[70] Tay G, Graham H, Graham HK, Leonard H, Reddihough D, Baikie G., “Hip displacement and scoliosis in Rett syndrome - screening is required”. Dev Med Child Neurol. 2010.
[71] Elian M. e M., Rudolf N. “Observations on hand movement in Rett syndrome: a pilot study”. Acta Neurol. 2006.
[72] Ayres J.A. “Sensory Integration and the Child”. 5th edizione del Western Psychological Services, Los Angeles, 1982.
[75] Lotan M., Merrick J. “Rett Syndrome: Therapeutic Interventions”. Nova Biomedical, 2011.
[76] Vignoli A, La Briola F, Peron A, Turner K, Savini M, Cogliati F, Russo S, Canevini MP. “Medical care of adolescents and women with Rett syndrome: an Italian study”. Am J Med Genet A. 2012.
[77] Downs JA, Bebbington A, Jacoby P, Msall ME, McIlroy O, Fyfe S, Bahi- Buisson N, Kaufmann WE, Leonard H. “Gross motor profile in rett syndrome as determined by video analysis”. Neuropediatrics, 2008.
[78] Fehr S, Bebbington A, Ellaway C, Rowe P, Leonard H, Downs J. “Altered attainment of developmental milestones influences the age of diagnosis of rett syndrome”. J Child Neurol. 2011.
[80] Segawa M. “Pathophysiology of Rett syndrome from the standpoint of clinical characteristics”. Brain Dev. 2001.
[81] Lotan M, Isakov E, Merrick J. “Improving functional skills and physical fitness in children with Rett syndrome”. J Intellect Disabil Res. 2004.
[82] Lotan M, Schenker R, Wine J, Downs J. “The conductive environment enhances gross motor function of girls with Rett syndrome. A pilot study”. Dev Neurorehabil. 2012.
[83] Larsson G, Engerström IW. “Gross motor ability in Rett syndrome--the power of expectation, motivation and planning”. Brain Dev. 2001.
[84] Lotan M., Gootman A. “Regaining walking ability in individuals with Rett syndrome: a case study”. International Journal on Disability and Human Development, 2012.
[85] Carter P, Downs J, Bebbington A, Williams S, Jacoby P, Kaufmann WE, Leonard H. “Stereotypical hand movements in 144 subjects with Rett syndrome from the population-based Australian database”. Mov Disord. 2010.
[86] Lotan, M., Roth D. “The effect of hand vibrators on the hand stereotypes and function in Rett syndrome - two case studies”. Isr. Physiother., 1996.
[87] Temudo T, Oliveira P, Santos M, Dias K, Vieira J, Moreira A, Calado E, Carrilho I, Oliveira G, Levy A, Barbot C, Fonseca M, Cabral A, Dias A, Cabral P, Monteiro J, Borges L, Gomes R, Barbosa C, Mira G, Eusébio F, Santos M, Sequeiros J, Maciel P. “Stereotypies in Rett syndrome: analysis of 83 patients with and without detected MECP2 mutations”. Neurology, 2007.
[88] Downs J, Bebbington A, Jacoby P, Williams AM, Ghosh S, Kaufmann WE, Leonard H. “Level of purposeful hand function as a marker of clinical severity in Rett syndrome”. Dev Med Child Neurol. 2010.
[89] Bebbington A, Anderson A, Ravine D, Fyfe S, Pineda M, de Klerk N, Ben- Zeev B, Yatawara N, Percy A, Kaufmann WE, Leonard H. “Investigating genotype-phenotype relationships in Rett syndrome using an international data set”. Neurology, 2008.
[90] Neul JL, Fang P, Barrish J, Lane J, Caeg EB, Smith EO, Zoghbi H, Percy A, Glaze DG. “Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome”. Neurology, 2008.
[91] Downs J, Bebbington A, Kaufmann WE, Leonard H. “Longitudinal hand function in Rett syndrome”. J Child Neurol. 2011.
[92] Umansky R., Watson J.S., Colvin L., Fyfe S., Leonard S., de Klerk N., Leonard H. “Hand preference, extent of laterality, and functional hand use in Rett syndrome”. J Child Neurol. 2003.
[93] Downs J, Parkinson S, Ranelli S, Leonard H, Diener P, Lotan M. “Perspectives on hand function in girls and women with Rett syndrome”. Dev Neurorehabil. 2013.
[94] Atti del convegno nazionale AIRett “avanzamenti nella presa in carico della Sindrome di Rett. Contributi clinici e dalla ricerca”. Roma, 17-18 maggio 2013.
[95] Hanks S.B. “Motor disabilities in the Rett syndrome and physical therapy strategies”. Brain Dev, 1990.
[96] Hanks S.B. “Why Physical Therapy?” Rett Gazette, 2001.
[97] Fedrizzi E. “I disordini dello sviluppo motorio”. Piccin, 2009.
[98] Kerr A.M., Nomura Y., Armstrong D., Anvret M., Belichenko P.V., Budden S., Cass H., Christodoulou J., Clarke A., Ellaway C., d'Esposito M., Francke U., Hulten M., Julu P., Leonard H., Naidu S., Schanen C., Webb T., Engerstrom I.W., Yamashita Y., Segawa M. “Guidelines for reporting clinical features in cases with MECP2 mutations”. Brain Dev. 2001.
[99] Fabio R.A., Martinazzoli C., Antonietti A. “Costruzione e standardizzazione dello strumento "R.A.R.S." (Rett Assessment Rating Scale)”. Ciclo Evolutivo e Disabilità.
[100] Mesibov G.B., Schopler E., Schaffer B., Michal N. “Use of the childhood autism rating scale with autistic adolescents and adults”. J Am Acad Child Adolesc Psychiatry. 1989.
[101] Fyfe S., Downs J., McIlroy O., Burford B., Lister J., Reilly S., Laurvick C.L., Philippe C., Msall M., Kaufmann W.E., Ellaway C., Leonard H. “Development of a video-based evaluation tool in Rett syndrome”. J Autism Dev Disord. 2007.
[102] Downs J., Bebbington A., Jacoby P., Williams A.M., Ghosh S., Kaufmann W.E., Leonard H. “Level of purposeful hand function as a marker of clinical severity in Rett syndrome.”. Dev Med Child Neurol. 2010.
[103] Antonietti A., Castelli I, Fabio R.A., Marchetti A. “La sindrome di Rett – Prospettive e strumenti per l’intervento”. Carocci editore, 2003.
[104] Jaglal S., Cockerill R., Lemieux-Charles L., Chambers L.W., Brazil K., Cohen C. “Perceptions of the process of care among caregivers and care recipients in dementia care networks”. Am J Alzheimers Dis Other Demen. 2007.
[105] Elefant C., Lotan M. “Rett syndrome: dual intervention – music and physical therapy”. Nord. J. Music Ther, 2004.
[106] Lotan M., Hanks S. “Physical Therapy Intervention for Individuals with Rett Syndrome”. The Scientific World Journal, 2006.
[107] Leonard H., Thomso M., Glasson E., Fyfe S., Leonard S., Ellaway C., Christodouloo J., Bower C. “Metacarpophalangeal pattern profile and bone age in Rett syndrome: further radiological clues to the diagnosis”. Am. J. Med. Gen, 1999.
[108] Budden S.S., Gunness M.E. “Possible mechanisms of osteopenia in Rett syndrome: bone histomorphometric studies”. J. Child Neurol. 2003.
[109] Defrin R, Pick H. “Pain Sensation of Individuals with Mental Retardation”. A research report to the Shalem foundation, 2006.
[110] Mount R.H., Hastings R.P., Reilly S., Cass H., Charman T. “Behavioral and emotional features in Rett Syndrome”. Disabil. Rehabil. 2001.
[111] Elefant, C. “Speechless yet communicative: revealing the person behind the disability of Rett syndrome through clinical research on songs in music therapy”. In Music Therapy in Europe. Aldridge D., di Franco G., Ruud E., Wigram T. Eds. ISMEZ, Rome, 2001.
[112] Erikssen G. “Physical fitness and changes in mortality: the survival of the fittest”. Sports Med. 2001.
[113] Kerr A.M. Burford B. “Towards a full life with Rett disorder”. Pediatr. Rehabil. 2001.
[114] Ward K., Alsop C., Caulton J., Rubin C., Adams J., Mughal Z. “Low magnitude mechanical loading is osteogenic in children with disabling conditions”. J. Bone Miner. Res. 2001.
[115] Caulton J.M., Ward K.A., Alsop C.W., Dunn G., Adams J.E., Mughal M.Z. “A randomised controlled trial of standing programme on bone mineral density in non-ambulant children with cerebral palsy”. Arch. Dis. Child. 2004.
[116] Lotan M., Shapiro M. "Management of young children with Rett disorder in the controlled multi-sensory (Snoezelen) environment”. Brain Dev, 2005.
[117] Lotan M., Hadar-Frumer M. “Aquatic Rehabilitation for Individuals with Rett Syndrome. A Guidebook for Hydro-therapists and Parents”. E-book, IRSA pubblicato su: http://www.memoryview.com/MV/irsa/Index.htm , 2003.
[118] Kaufmann W.E., Johnston M.V., Blue M.E. “MeCP2 expression and function during brain development: implications for Rett syndrome's pathogenesis and clinical evolution”. Brain Dev, 2005.
[119] Johnston M. “Neurobiology of Rett Syndrome, A Disorder of Synaptic Development”. Presentato all “international course on Rett syndrome”, Östersund, Svezia, 16–18 Giugno 2003.
[120] Yoshei Y., Lotan M. “Rett syndrome: Occupational terapy intervention”. Nova science publishers, inc. 2011.
[121] Wehmeyer M., Bourland G., Ingram D. “An analogue assessment of hand stereotypies in two cases of Rett syndrome”. J Intellect Disabil Res. 1993.
[122] Weiss M. “Intervention and assessment of hand behavior”. Presentazione alla 12a conferenza annuale IRSA, Boston, MA, 1996.
[123] Sharp P.A. “comparative effects of bilateral hand splints and an elbow orthosis on sterotypic hand movements and play in two children with Rett syndrome”. Am J Occup Ther, 1992.
[124] Elian M., De M., Rudolf N. “Observation on hand movement in Rett syndrome: a pilot study”. Acta Neurol Scand, 1996.
[125] Ayers A.J. “Sensory integration and learning disorder”. Los Angeles, CA: Western Psychol Serv. 1972.
[126] Fisher A.G., Murray E.A., Bundy A.C. “Sensory integration theory and practice”. Philadelphia, PA: Davis Company, 1991.
[127] Nishimura M., Onodera S. “Effects of supine floating on heart rate, blood pressure and cardiac autonomic nervous system activity”. J Gravit Physiol. 2000.
[128] Engerström I.W., Kerr A. “Workshop on Autonomic Function in Rett Syndrome. Swedish Rett Center Frösön, Sweden, May 1998”. Brain Dev. 1998.
[129] Rosenbloom I. “The consequence of impaired movement: a hypothesis and review”. Holt K, ed. Movement and child development. Londra, 1975.
[131] Antonietti A., Colombo B. “Musica che educa Musica che cura”. Aracne editrice, 2010.
[132] Elefant C. “Rett syndrome: possibilities through music therapy”. In “Rett syndrome: therapeutic intervention”, Nova Science Publisher, 2011. Tab. l• Da Neu!et al Re11ised RTT Diagnostic Criteria, 2010