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Rett-Syndrom

Das Rett-Syndrom ist eine x-chromosomal dominante Erkrankung des zentralen Nervensystem, die durch Mutationen im MECP2-Gen ausgelöst wird.

Gliederung

Erbliche Nervenerkrankungen
Alzheimer Erkrankung
Arts-Syndrom
Autismus
Autosomal dominante zerebelläre Ataxie mit Schwerhörigkeit und Narkolepsie
Autosomal rezessive spastische Paraplegie 44
Brunner-Syndrom
Charcot-Marie-Tooth-Hoffmann-Krankheit
Epileptische Syndrome
Erbliche Erkrankungen der Muskeln
Gliom-Neigung
Hereditäre Hirntumoren
Hereditäre benigne Chorea
Hereditäre distale Motorneuronen-Neuropathie Typ 5A
Hereditäre sensorisch-autonome Neuropathie Typ 2A
Hereditäre sensorische Neuropathie Typ 1E
Hirnmalformation mit Urogenitaldefekten
Hypokalämische periodische Paralyse 1
Hypomyelinisierte Leukodystrophy 2
Idiopathische Kalzifikation der Basalganglien 1
Kongenitale Schmerzunempfindlichkeit mit Anhidrose
Migräne
Nemaline-Myopathy 5
Neonatale Enzephalopathie mit Mikrozephalie
Panzytopenisches Ataxie-Syndrom
Porenzephalie
Rett-Syndrom
Atypisches Rett-Syndrom
MECP2
MECP2
Rett-Syndrom Variante mit erhaltener Sprechfähigkeit
MECP2
Spastische Paraplegie 17 mit Amyotrophie der Hände und Füße
Syndrom der Intelligenzminderung mit stark verzögerter Sprachentwicklung und milden Dysmorphien
Tuberöse Sklerose Komplex
Vaskuläre Demenz
X-chromosomale syndromale mentale Retardierung 13
Zerebrale Mikroangiopathie mit Blutung

Referenzen:

1.

Guerrini R et al. (1998) Cortical reflex myoclonus in Rett syndrome.

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2.

Wan M et al. (1999) Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots.

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3.

Villard L et al. (2000) Two affected boys in a Rett syndrome family: clinical and molecular findings.

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4.

Moog U et al. (2003) Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2).

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5.

None (1966) [On a unusual brain atrophy syndrome in hyperammonemia in childhood].

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6.

Amir RE et al. (1999) Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2.

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7.

De Bona C et al. (2000) Preserved speech variant is allelic of classic Rett syndrome.

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8.

Clayton-Smith J et al. (2000) Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males.

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9.

Imessaoudene B et al. (2001) MECP2 mutation in non-fatal, non-progressive encephalopathy in a male.

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10.

Watson P et al. (2001) Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein.

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11.

Topçu M et al. (2002) Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy.

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12.

Shahbazian M et al. (2002) Mice with truncated MeCP2 recapitulate many Rett syndrome features and display hyperacetylation of histone H3.

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13.

Heilstedt HA et al. (2002) Infantile hypotonia as a presentation of Rett syndrome.

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14.

Mount RH et al. (2002) The Rett Syndrome Behaviour Questionnaire (RSBQ): refining the behavioural phenotype of Rett syndrome.

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15.

Maiwald R et al. (2002) De novo MECP2 mutation in a 46,XX male patient with Rett syndrome.

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16.

Weaving LS et al. (2003) Effects of MECP2 mutation type, location and X-inactivation in modulating Rett syndrome phenotype.

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17.

Hammer S et al. (2003) Rett syndrome in a 47,XXX patient with a de novo MECP2 mutation.

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18.

Mnatzakanian GN et al. (2004) A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome.

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19.

Schanen C et al. (2004) Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome.

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20.

Moretti P et al. (2005) Abnormalities of social interactions and home-cage behavior in a mouse model of Rett syndrome.

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21.

Ravn K et al. (2005) Mutations found within exon 1 of MECP2 in Danish patients with Rett syndrome.

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22.

Nuber UA et al. (2005) Up-regulation of glucocorticoid-regulated genes in a mouse model of Rett syndrome.

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23.

Jian L et al. (2005) p.R270X MECP2 mutation and mortality in Rett syndrome.

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24.

Archer HL et al. (2006) Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients.

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25.

Robertson L et al. (2006) The association between behavior and genotype in Rett syndrome using the Australian Rett Syndrome Database.

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26.

Bartholdi D et al. (2006) Clinical profiles of four patients with Rett syndrome carrying a novel exon 1 mutation or genomic rearrangement in the MECP2 gene.

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27.

Deng V et al. (2007) FXYD1 is an MeCP2 target gene overexpressed in the brains of Rett syndrome patients and Mecp2-null mice.

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28.

Renieri A et al. (2009) Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant).

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29.

Adegbola AA et al. (2009) A novel hypomorphic MECP2 point mutation is associated with a neuropsychiatric phenotype.

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30.

Saunders CJ et al. (2009) Novel exon 1 mutations in MECP2 implicate isoform MeCP2_e1 in classical Rett syndrome.

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31.

Chao HT et al. (2010) Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes.

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32.

Muotri AR et al. (2010) L1 retrotransposition in neurons is modulated by MeCP2.

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33.

Derecki NC et al. (2012) Wild-type microglia arrest pathology in a mouse model of Rett syndrome.

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34.

Schanen NC et al. (1997) A new Rett syndrome family consistent with X-linked inheritance expands the X chromosome exclusion map.

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35.

Hendrich B et al. (2001) Human diseases with underlying defects in chromatin structure and modification.

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36.

Kormann-Bortolotto MH et al. (1992) X-inactivation in girls with Rett syndrome.

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37.

Akesson HO et al. (1992) Rett syndrome: a search for gene sources.

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38.

Benedetti L et al. (1992) Parental origin of the X chromosomes in Rett syndrome.

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39.

Archidiacono N et al. (1991) Rett syndrome: exclusion mapping following the hypothesis of germinal mosaicism for new X-linked mutations.

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40.

Bruck I et al. (1991) Difference in early development of presumed monozygotic twins with Rett syndrome.

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41.

Ellison KA et al. (1992) Examination of X chromosome markers in Rett syndrome: exclusion mapping with a novel variation on multilocus linkage analysis.

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42.

Burd L et al. (1991) Prevalence study of Rett syndrome in North Dakota children.

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43.

Ferlini A et al. (1990) Molecular analysis of the Rett syndrome using cDNA synapsin I as a probe.

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44.

Anvret M et al. (1990) Segregation analysis of the X-chromosome in a family with Rett syndrome in two generations.

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45.

Martinho PS et al. (1990) In search of a genetic basis for the Rett syndrome.

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46.

Journel H et al. (1990) Rett phenotype with X/autosome translocation: possible mapping to the short arm of chromosome X.

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47.

Zoghbi HY et al. (1990) A de novo X;3 translocation in Rett syndrome.

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48.

Bühler EM et al. (1990) Another model for the inheritance of Rett syndrome.

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49.

None (1990) Follow-up of monozygotic twins concordant for the Rett syndrome.

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50.

Zoghbi HY et al. (1990) Patterns of X chromosome inactivation in the Rett syndrome.

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51.

None (1990) Is classical Rett syndrome ever present in males?

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52.

None (1990) The Rett syndrome in males.

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53.

Zoghbi HY et al. (1985) Reduction of biogenic amine levels in the Rett syndrome.

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54.

Yang-Feng TL et al. (1986) Genes for synapsin I, a neuronal phosphoprotein, map to conserved regions of human and murine X chromosomes.

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55.

Papadimitriou JM et al. (1988) Rett syndrome: abnormal membrane-bound lamellated inclusions in neurons and oligodendroglia.

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56.

None (1988) Rett syndrome in monozygotic twins.

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57.

Tariverdian G et al. (1987) A monozygotic twin pair with Rett syndrome.

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58.

Hagberg B et al. (1985) Rett syndrome: criteria for inclusion and exclusion.

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59.

Nomura Y et al. (1984) Rett syndrome--clinical studies and pathophysiological consideration.

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60.

Hagberg B et al. (1983) A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases.

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61.

None (1980) Metabolic interference and the + - heterozygote. a hypothetical form of simple inheritance which is neither dominant nor recessive.

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62.

Armstrong D et al. (1995) Selective dendritic alterations in the cortex of Rett syndrome.

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63.

Lappalainen R et al. () Elevated CSF lactate in the Rett syndrome: cause or consequence?

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64.

Webb T et al. (1993) Neither uniparental disomy nor skewed X-inactivation explains Rett syndrome.

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65.

Motil KJ et al. (1994) Altered energy balance may account for growth failure in Rett syndrome.

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66.

Hagberg BA et al. (1994) Rett variants: a suggested model for inclusion criteria.

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67.

Sekul EA et al. (1994) Electrocardiographic findings in Rett syndrome: an explanation for sudden death?

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68.

Curtis AR et al. (1993) X chromosome linkage studies in familial Rett syndrome.

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69.

Leonard H et al. (1995) Skeletal abnormalities in Rett syndrome: increasing evidence for dysmorphogenetic defects.

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70.

Camus P et al. (1996) X chromosome inactivation in 30 girls with Rett syndrome: analysis using the probe.

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71.

Akesson HO et al. (1995) Rett syndrome: potential gene sources--phenotypical variability.

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72.

None (1996) High male:female ratio of germ-line mutations: an alternative explanation for postulated gestational lethality in males in X-linked dominant disorders.

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73.

None (1995) Rett syndrome: clinical peculiarities and biological mysteries.

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74.

Akesson HO et al. (1996) Rett syndrome, classical and atypical: genealogical support for common origin.

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75.

Miyamoto A et al. (1997) Classical Rett syndrome in sisters: variability of clinical expression.

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76.

Kerr AM et al. (1997) Rett syndrome: analysis of deaths in the British survey.

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77.

Xiang F et al. (1998) Chromosome mapping of Rett syndrome: a likely candidate region on the telomere of Xq.

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78.

Schanen C et al. (1998) A severely affected male born into a Rett syndrome kindred supports X-linked inheritance and allows extension of the exclusion map.

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79.

Narayanan V et al. (1998) Mutation analysis of the M6b gene in patients with Rett syndrome.

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80.

Wan M et al. (1998) Evaluation of two X chromosomal candidate genes for Rett syndrome: glutamate dehydrogenase-2 (GLUD2) and rab GDP-dissociation inhibitor (GDI1).

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81.

Heidary G et al. (1998) Exclusion of the gastrin-releasing peptide receptor (GRPR) locus as a candidate gene for Rett syndrome.

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82.

Cummings CJ et al. (1998) Analysis of the genomic structure of the human glycine receptor alpha2 subunit gene and exclusion of this gene as a candidate for Rett syndrome.

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83.

Van den Veyver IB et al. (1998) Genomic structure of a human holocytochrome c-type synthetase gene in Xp22.3 and mutation analysis in patients with Rett syndrome.

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84.

Sirianni N et al. (1998) Rett syndrome: confirmation of X-linked dominant inheritance, and localization of the gene to Xq28.

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85.

Webb T et al. (1998) Linkage analysis in Rett syndrome families suggests that there may be a critical region at Xq28.

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86.

Leonard H et al. (1999) Metacarpophalangeal pattern profile and bone age in Rett syndrome: further radiological clues to the diagnosis.

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87.

Ellaway CJ et al. (1999) Prolonged QT interval in Rett syndrome.

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88.

Guideri F et al. (1999) Reduced heart rate variability in patients affected with Rett syndrome. A possible explanation for sudden death.

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89.

Rosenberg C et al. (2001) A Rett syndrome patient with a ring X chromosome: further evidence for skewing of X inactivation and heterogeneity in the aetiology of the disease.

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90.

Villard L et al. (2001) Segregation of a totally skewed pattern of X chromosome inactivation in four familial cases of Rett syndrome without MECP2 mutation: implications for the disease.

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91.

Zappella M et al. (2001) Preserved speech variants of the Rett syndrome: molecular and clinical analysis.

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92.

Bourdon V et al. (2001) Evidence of somatic mosaicism for a MECP2 mutation in females with Rett syndrome: diagnostic implications.

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93.

Xiang F et al. (2002) MECP2 mutations in Swedish Rett syndrome clusters.

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94.

Hagberg B et al. (2002) An update on clinically applicable diagnostic criteria in Rett syndrome. Comments to Rett Syndrome Clinical Criteria Consensus Panel Satellite to European Paediatric Neurology Society Meeting, Baden Baden, Germany, 11 September 2001.

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95.

Gill H et al. (2003) Mutation analysis in the MECP2 gene and genetic counselling for Rett syndrome.

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96.

Smeets E et al. (2003) Rett syndrome in adolescent and adult females: clinical and molecular genetic findings.

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97.

Smeets E et al. (2005) Rett syndrome in females with CTS hot spot deletions: a disorder profile.

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98.

Borg I et al. (2005) Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndrome.

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99.

Archer HL et al. (2006) NTNG1 mutations are a rare cause of Rett syndrome.

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100.

Huppke P et al. (2006) Very mild cases of Rett syndrome with skewed X inactivation.

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101.

Evans JC et al. (2006) Germline mosaicism for a MECP2 mutation in a man with two Rett daughters.

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102.

Zimprich F et al. (2006) Andreas Rett and benign familial neonatal convulsions revisited.

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103.

Venâncio M et al. (2007) An explanation for another familial case of Rett syndrome: maternal germline mosaicism.

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104.

Horská A et al. (2009) Brain metabolism in Rett syndrome: age, clinical, and genotype correlations.

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105.

Marchetto MC et al. (2010) A model for neural development and treatment of Rett syndrome using human induced pluripotent stem cells.

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106.

Percy AK et al. (2010) Rett syndrome diagnostic criteria: lessons from the Natural History Study.

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107.

Neul JL et al. (2010) Rett syndrome: revised diagnostic criteria and nomenclature.

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108.

Lioy DT et al. (2011) A role for glia in the progression of Rett's syndrome.

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109.

Hao S et al. (2015) Forniceal deep brain stimulation rescues hippocampal memory in Rett syndrome mice.

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110.

Orphanet article

Orphanet ID 778 external link
111.

OMIM.ORG article

Omim 312750 external link
112.

Wikipedia Artikel

Wikipedia DE (Rett-Syndrom) external link
Update: 14. August 2020
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