Rett Syndrome: Investigation of Nine Patients, including PET Scan
Open accessAbstract
Background: We describe nine females with Rett Syndrome (RS), aged 14 to 26 years. All had had developmental delay before the end of their first year and had subsequently regressed to profound dementia with apraxia, ataxia, irregular respirations and often also seizures. Methods: The Revised Gesell developmental assessment and Alpern-Boll Developmental Profile were used in modified form. Volumetric measurements of basal ganglia using MRI were compared with the findings in nine age-matched volunteer females. Positron emission scans with [18 F]-6-fluorodopa and [11 C]-raclopride were performed under light anesthesia with intravenous Propofol, and the findings were compared with those in healthy control girls. Bidirectional sequencing of the coding regions of the MECP2 gene was investigated in blood samples for mutational analyses. Results: The RS females functioned at a mental age level ranging from about 4 to 15 months. The scores correlated with height, weight and head circumference. Magnetic resonance scans of basal ganglia showed a significant reduction in the size of the caudate heads and thalami in the Rett cases. Positron emission scans demonstrated that the mean uptake of fluorodopa in RS was reduced by 13.1% in caudate and by 12.5% in putamen as compared to the controls, while dopamine D2 receptor binding was increased significantly by 9.7% in caudate and 9.6% in putamen. Mutations in the coding regions of the MECP2 gene were present in all nine patients. No significant correlation between type and location of mutation and volumetric changes or isotope uptake was demonstrable. Conclusion: Our findings suggest a mild presynaptic deficit of nigrostriatal activity in Rett syndrome.
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
Molecular-imaging studies have indicated increased D2 receptor binding in the caudate and putamen, and in the striatum as a whole.
“Molecular-imaging studies have indicated increased D2 receptor binding in the caudate and putamen [704], and in the striatum as a whole [705].”
From Reward circuitry dysfunction in psychiatric and neurodevelopmental disorders and genetic syndromes: animal models and clinical findings (2012) · cites this paper as [704]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Cites
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
Amir, R. E., Van den Veyver, I. B., Wan, M., Tran, C. Q., Francke, U., & Zoghbi, H. Y. (1999) · Nature Genetics · doi:10.1038/13810 · Cited by 4,990 · see citing works
MRI-PET Registration with Automated Algorithm
Woods, R. P., Mazziotta, J. C., & Cherry, A. S. R. (1993) · Journal of Computer Assisted Tomography · doi:10.1097/00004728-199307000-00004 · Cited by 1,636 · see citing works
Hagberg, B. A., Aicardi, J. F., Dias, K., & Ramos, O. (1983) · Annals of Neurology · doi:10.1002/ana.410140412 · Cited by 1,515 · see citing works
MeCP2 is a transcriptional repressor with abundant binding sites in genomic chromatin.
Nan, X.-S., Campoy, F., & Bird, A. (1997) · Cell · doi:10.1016/s0092-8674(00)81887-5 · Cited by 1,403 · see citing works
Validity and reliability of a rating scale for the primary torsion dystonias
Burke, R. E., Fahn, S., MARSDEN, C. D., Bressman, S., Moskowitz, C. B., & Friedman, J. I. (1985) · Neurology · doi:10.1212/wnl.35.1.73 · Cited by 1,120 · see citing works
An association between migraine and cutaneous allodynia
Burstein, R., Yarnitsky, D., Goor‐Aryeh, I., Ransil, B. J., & Bajwa, Z. H. (2000) · Annals of Neurology · doi:10.1002/1531-8249(200005)47:5 · Cited by 1,013 · see citing works
HEAD CIRCUMFERENCE FROM BIRTH TO EIGHTEEN YEARS
Nellhaus, G. (1968) · PEDIATRICS · doi:10.1542/peds.41.1.106 · Cited by 745 · see citing works
(1966) · PubMed · Cited by 708 · see citing works
Dissection of the methyl-CpG binding domain from the chromosomal protein MeCP2
Nan, X., Meehan, R. R., & Bird, A. P. (1993) · Nucleic Acids Research · doi:10.1093/nar/21.21.4886 · Cited by 605 · see citing works
Shahbazian, M. D. (2002) · Human Molecular Genetics · doi:10.1093/hmg/11.2.115 · Cited by 545 · see citing works
Propofol infusion syndrome in children
Bray (1998) · Pediatric Anesthesia · doi:10.1046/j.1460-9592.1998.00282.x · Cited by 535 · see citing works
Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots
Wan, M., Lee, S. S. J., Zhang, X., Houwink-Manville, I., Song, H.-R., Amir, R. E., Budden, S., Naidu, S., Pereira, J. L. P., Lo, I. F. M., et al. (1999) · The American Journal of Human Genetics · doi:10.1086/302690 · Cited by 520 · see citing works
Comparison of Methods for Analysis of Clinical [ 11 C]Raclopride Studies
Lammertsma, A. A., Bench, C. J., Hume, S. P., Osman, S., Gunn, K. P., Brooks, D. J., & Frackowiak, R. S. J. (1996) · Journal of Cerebral Blood Flow & Metabolism · doi:10.1097/00004647-199601000-00005 · Cited by 460 · see citing works
Diagnostic criteria for rett syndrome
The Rett Syndrome Diagnostic Criteria Work Group (1988) · Annals of Neurology · doi:10.1002/ana.410230432 · Cited by 404 · see citing works
Brooks, D. J., Ibanez, V., Sawle, G. V., Playford, E. D., Quinn, N. P., Mathias, C. J., Lees, A. J., MARSDEN, C. D., Bannister, R., & Frackowiak, R. S. J. (1992) · Annals of Neurology · doi:10.1002/ana.410310209 · Cited by 394 · see citing works
Hagberg, B. A., Witt‐Engerström, I., Opitz, J. M., & Reynolds, J. F. (1986) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320250506 · Cited by 383 · see citing works
Leenders, K. L., Palmer, A. J., Quinn, N. P., Jb, C., Firnau, G., Garnett, E. S., Nahmias, C., Jones, T., & MARSDEN, C. D. (1986) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp.49.8.853 · Cited by 354 · see citing works
Cerebral Metabolism during Propofol Anesthesia in Humans Studied with Positron Emission Tomography
Alkire, M. T., Haier, R. J., Barker, S. J., Shah, N. K., Wu, J. C., & Kao, J. Y. (1995) · Anesthesiology · doi:10.1097/00000542-199502000-00010 · Cited by 350 · see citing works
Plummer, G. F. (1987) · Journal of Chromatography B Biomedical Sciences and Applications · doi:10.1016/0378-4347(87)80394-8 · Cited by 307 · see citing works
MECP2 mutations account for most cases of typical forms of Rett syndrome
Bienvenu, T. (2000) · Human Molecular Genetics · doi:10.1093/hmg/9.9.1377 · Cited by 305 · see citing works
Cheadle, J. P. (2000) · Human Molecular Genetics · doi:10.1093/hmg/9.7.1119 · Cited by 290 · see citing works
MECP2 is highly mutated in X-linked mental retardation
Couvert, P. (2001) · Human Molecular Genetics · doi:10.1093/hmg/10.9.941 · Cited by 276 · see citing works
Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients
Huppke, P. (2000) · Human Molecular Genetics · doi:10.1093/hmg/9.9.1369 · Cited by 246 · see citing works
Clinical and [18F] dopa PET findings in early Parkinson's disease.
Morrish, P., Sawle, G. V., & Brooks, D. J. (1995) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp.59.6.597 · Cited by 244 · see citing works
Meloni, I., Bruttini, M., Longo, I., Mari, F., Rizzolio, F., D’Adamo, P., Denvriendt, K., Fryns, J., Toniolo, D., & Renieri, A. (2000) · The American Journal of Human Genetics · doi:10.1086/303078 · Cited by 231 · see citing works
MeCP2 mutations in children with and without the phenotype of Rett syndrome
Hoffbuhr, K. C., Devaney, J. M., LAFLEUR, B. J., et al. (2001) · Neurology · doi:10.1212/wnl.56.11.1486 · Cited by 230 · see citing works
MECP2 mutation in male patients with non‐specific X‐linked mental retardation
Orrico, A., Lam, C.-W., Galli, L., Dotti, M. T., Hayek, G., Tong, S.-F., Poon, P. M. K., Zappella, M., Federico, A., & Sorrentino, V. (2000) · FEBS Letters · doi:10.1016/s0014-5793(00)01994-3 · Cited by 229 · see citing works
Fulton, B., & Sorkin, E. M. (1995) · Drugs · doi:10.2165/00003495-199550040-00006 · Cited by 222 · see citing works
Eidelberg, D., Moeller, J. R., DHAWAN, V. M., Sidtis, J. J., Ginos, J. Z., Strother, S. C., Cedarbaum, J. M., Greene, P., Fahn, S., & Rottenberg, D. A. (1990) · Movement Disorders · doi:10.1002/mds.870050304 · Cited by 204 · see citing works
Two affected boys in a Rett syndrome family
Villard, L., Kpebe, A., Cardoso, C., Chelly, J., Tardieu, M., & Fontés, M. (2000) · Neurology · doi:10.1212/wnl.55.8.1188 · Cited by 193 · see citing works
Rett Syndrome: Confirmation of X-Linked Dominant Inheritance, and Localization of the Gene to Xq28
Sirianni, N., Naidu, S., Pereira, J., Pilotto, R. F., & Hoffman, E. P. (1998) · The American Journal of Human Genetics · doi:10.1086/302105 · Cited by 184 · see citing works
Antonini, A., Vontobel, P., Psylla, M., Guenther, I., Maguire, R. P., Missimer, J., & Leenders, K. L. (1995) · Archives of Neurology · doi:10.1001/archneur.1995.00540360061017 · Cited by 174 · see citing works
Buyse, I. M., Fang, P., Hoon, K. T., Amir, R. E., Zoghbi, H. Y., & Roa, B. B. (2000) · The American Journal of Human Genetics · doi:10.1086/316913 · Cited by 167 · see citing works
The Nonhypnotic Therapeutic Applications of Propofol
Biebuyck, J. F., Borgeat, A., Wilder‐Smith, O. H. G., et al. (1994) · Anesthesiology · doi:10.1097/00000542-199403000-00022 · Cited by 163 · see citing works
Functional consequences of Rett syndrome mutations on human MeCP2
Yusufzai, T. M. (2000) · Nucleic Acids Research · doi:10.1093/nar/28.21.4172 · Cited by 153 · see citing works
Johnston, M. V., & Hoon, A. H. (2000) · Journal of Child Neurology · doi:10.1177/088307380001500904 · Cited by 145 · see citing works
Reduction of Biogenic Amine Levels in the Rett Syndrome
Zoghbi, H. Y., Percy, A. K., Glaze, D. G., Butler, I. J., & Riccardi, V. M. (1985) · New England Journal of Medicine · doi:10.1056/nejm198510103131504 · Cited by 139 · see citing works
Kaasinen, V., Ruottinen, H., Någren, K., et al. (2000) · PubMed · Cited by 138 · see citing works
Monoamines, noyaux gris centraux et syndrome de Parkinson
Stern, G. M. (1975) · Journal of the Neurological Sciences · doi:10.1016/0022-510x(75)90147-1 · Cited by 134 · see citing works
Klauck, S. M., Lindsay, S., Beyer, K. S., Splitt, M. P., Burn, J., & Poustka, A. (2002) · The American Journal of Human Genetics · doi:10.1086/339553 · Cited by 123 · see citing works
Mutation screening in Rett syndrome patients
Xiang, F., Buervenich, S., Nicolao, P., et al. (2000) · Journal of Medical Genetics · doi:10.1136/jmg.37.4.250 · Cited by 114 · see citing works
Rinne, J. O., Laihinen, A., Ruottinen, H., Ruotsalainen, U., Någren, K., Lehikoinen, P., Oikonen, V., & Rinne, U. K. (1995) · Journal of the Neurological Sciences · doi:10.1016/0022-510x(95)00137-q · Cited by 112 · see citing works
Delayed‐onset dystonia due to perinatal or early childhood asphyxia
Hilaire, M.-H. S., Burke, R. E., Bressman, S. B., et al. (1991) · Neurology · doi:10.1212/wnl.41.2_part_1.216 · Cited by 110 · see citing works
Microscopic Observations of the Brain in Rett Syndrome
Bauman, M. L., Kemper, T., & Arin, D. M. (1995) · Neuropediatrics · doi:10.1055/s-2007-979737 · Cited by 108 · see citing works
Methyl-CpG-binding protein 2 mutations in Rett syndrome
den Veyver, I. B. V. (2000) · Current Opinion in Genetics & Development · doi:10.1016/s0959-437x(00)00083-6 · Cited by 106 · see citing works
Schanen, C., & Francke, U. (1998) · The American Journal of Human Genetics · doi:10.1086/301932 · Cited by 105 · see citing works
Motil, K. J., Schultz, R., Browning, K., et al. (1999) · Journal of Pediatric Gastroenterology and Nutrition · doi:10.1097/00005176-199907000-00010 · Cited by 104 · see citing works
Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy
Topçu, M., Akyerli, C. B., Sayi‐Yazgan, A., Törüner, G., Koçoğlu, S. R., Cimbiş, M., & Özçelık, T. (2002) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5200745 · Cited by 92 · see citing works
Striatal 18 F-DOPA Uptake: Absence of an Aging Effect
Eidelberg, D., Takikawa, S., DHAWAN, V. M., et al. (1993) · Journal of Cerebral Blood Flow & Metabolism · doi:10.1038/jcbfm.1993.110 · Cited by 92 · see citing works
Rett Disorder and the Developing Brain
Kerr, A., & Engerström, L. W. (2001) · doi:10.1093/oso/9780192630834.001.0001 · Cited by 91 · see citing works
Polysomnographic characteristics of patients with Rett syndrome
Marcus, C. L., Carroll, J. L., McColley, S. A., et al. (1994) · The Journal of Pediatrics · doi:10.1016/s0022-3476(94)70196-2 · Cited by 91 · see citing works
Time course of postanoxic akinetic‐rigid and dystonic syndromes
Bhatt, M. H., Obeso, J. A., & MARSDEN, C. D. (1993) · Neurology · doi:10.1212/wnl.43.2.314 · Cited by 90 · see citing works
Influence of Mutation Type and Location on Phenotype in 123 Patients with Rett Syndrome
Huppke, P., Held, M., Hanefeld, F. A., Engel, W., & Laccone, F. A. (2002) · Neuropediatrics · doi:10.1055/s-2002-32365 · Cited by 89 · see citing works
Rett Syndrome in a Boy with a 47,XXY Karyotype Confirmed by a Rare Mutation in the MECP2 Gene
Schwartzman, J. S., Bernardino, A., Nishimura, A. L., et al. (2001) · Neuropediatrics · doi:10.1055/s-2001-16620 · Cited by 88 · see citing works
Neuroimaging studies in Rett syndrome
Naidu, S., Kaufmann, W. E., Abrams, M. T., Pearlson, G. D., Lanham, D. C., Fredericksen, K., Barker, P. B., Horská, A., Golay, X., Mori, S., et al. (2001) · Brain and Development · doi:10.1016/s0387-7604(01)00381-3 · Cited by 87 · see citing works
Rett syndrome in Spain: mutation analysis and clinical correlations
Monrós, E., Morón, J. A., Aibar, E., Póo, P., Canós, I., & Pineda, M. (2001) · Brain and Development · doi:10.1016/s0387-7604(01)00374-6 · Cited by 85 · see citing works
Mutational analysis of the MECP2 gene in Japanese patients with Rett syndrome
Amano, K., Nomura, Y., Segawa, M., et al. (2000) · Journal of Human Genetics · doi:10.1007/s100380070032 · Cited by 84 · see citing works
Laccone, F. A., Huppke, P., Hanefeld, F. A., & Meins, M. (2001) · Human Mutation · doi:10.1002/humu.3 · Cited by 81 · see citing works
Haas, R., Dixon, S. D., Sartoris, D. J., et al. (1997) · The Journal of Pediatrics · doi:10.1016/s0022-3476(97)70113-6 · Cited by 81 · see citing works
Knobloch, H., Stevens, F. M., Malone, A., et al. (1980) · Medical Entomology and Zoology · Cited by 80 · see citing works
The Neuropathology of Rett Syndrome - Overview 1994
Armstrong, D. L. (1995) · Neuropediatrics · doi:10.1055/s-2007-979736 · Cited by 80 · see citing works
MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features
Auranen, M., Vanhala, R., Vosman, M., et al. (2001) · Neurology · doi:10.1212/wnl.56.5.611 · Cited by 77 · see citing works
Separating Parkinson's Disease From Normality
Sawle, G. V. (1994) · Archives of Neurology · doi:10.1001/archneur.1994.00540150027011 · Cited by 76 · see citing works
Reproducibility of fluorine-18-6-fluorodopa positron emission tomography in normal human subjects.
Vingerhoets, F. J. G., Snow, B. J., Schulzer, M., Morrison, S., Ruth, T. J., Holden, J. E., Cooper, S. D., & Calne, D. B. (1994) · PubMed · Cited by 73 · see citing works
Self-citationAltered neurochemical markers in Rett's syndrome
Wenk, G. L., Naidu, S., Casanova, M. F., et al. (1991) · Neurology · doi:10.1212/wnl.41.11.1753 · Cited by 68 · see citing works
Rett syndrome: Biogenic amines and metabolites in postmortem brain
Lekman, A. Y., Witt‐Engerström, I., Gottfries, J., Hagberg, B. A., Percy, A. K., & Svennerholm, L. T. (1989) · Pediatric Neurology · doi:10.1016/0887-8994(89)90049-0 · Cited by 68 · see citing works
Mutations in the MECP2 gene in a cohort of girls with Rett syndrome
HAMPSON, K., WOODS, C. G., LATIF, F., & WEBB, T. (2000) · Journal of Medical Genetics · doi:10.1136/jmg.37.8.610 · Cited by 64 · see citing works
Detection of Epstein‐Barr virus in the brain by the polymerase chain reaction
Pedneault, L., Katz, B. Z., & Miller, G. (1992) · Annals of Neurology · doi:10.1002/ana.410320210 · Cited by 60 · see citing works
Gesell, A., Amatruda, C. S., Knobloch, H., et al. (1974) · Medical Entomology and Zoology · Cited by 59 · see citing works
Rett Syndrome: Review of Biological Abnormalities
Dunn, H. G., & MacLeod, P. (2001) · Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques · doi:10.1017/s0317167100052513 · Cited by 58 · see citing works
Self-citationSpectrum of MECP2 mutations in Rett syndrome
Lee, S. S. J., Wan, M., & Francke, U. (2001) · Brain and Development · doi:10.1016/s0387-7604(01)00339-4 · Cited by 56 · see citing works
A population-based approach to the investigation of osteopenia in Rett syndrome
Leonard, H., Thomson, M. R., Glasson, E. J., et al. (1999) · Developmental Medicine & Child Neurology · doi:10.1017/s0012162299000717 · Cited by 56 · see citing works
Cordes, M., Snow, B. J., Cooper, S. D., et al. (1994) · Annals of Neurology · doi:10.1002/ana.410360420 · Cited by 56 · see citing works
Perry, T. L., Dunn, H. G., Ho, H. H., & Crichton, J. U. (1988) · The Journal of Pediatrics · doi:10.1016/s0022-3476(88)80060-x · Cited by 55 · see citing works
Self-citationAge-related occurrence of signs and symptoms in the Rett syndrome.
Engerström, I. W. (1992) · PubMed · Cited by 53 · see citing works
Does Propofol Interact with D2 Dopamine Receptors?
Appadu, B., Strange, P. G., & Lambert, D. G. (1994) · Anesthesia & Analgesia · doi:10.1213/00000539-199412000-00026 · Cited by 52 · see citing works
Dopaminergic D2 receptor SPECT imaging in Rett syndrome: increase of specific binding in striatum.
Chiron, C., Bulteau, C., Loc’h, C., et al. (1993) · PubMed · Cited by 49 · see citing works
Linkage analysis in Rett syndrome families suggests that there may be a critical region at Xq28.
Webb, T., Clarke, A. J., Hanefeld, F. A., et al. (1998) · Journal of Medical Genetics · doi:10.1136/jmg.35.12.997 · Cited by 48 · see citing works
CSF and urine biogenic amine metabolites in Rett syndrome
Lekman, A. Y., Witt‐Engerström, I., Holmberg, B., Percy, A. K., Svennerholm, L. T., & Hagberg, B. A. (1990) · Clinical Genetics · doi:10.1111/j.1399-0004.1990.tb03499.x · Cited by 46 · see citing works
Neurochemical alterations in Rett syndrome
Wenk, G. L., O'Leary, M., Nemeroff, C. B., Bissette, G., Moser, H. W., & Naidu, S. (1993) · Developmental Brain Research · doi:10.1016/0165-3806(93)90084-n · Cited by 45 · see citing works
Preliminary Evidence for Neurodegenerative Changes in the Substantia Nigra of Rett Syndrome
Kitt, C. A., & Wilcox, B. (1995) · Neuropediatrics · doi:10.1055/s-2007-979739 · Cited by 45 · see citing works
Cytogenetic and molecular-cytogenetic investigation of Rett syndrome
Vorsanova, S. G., Ia, D., Ulas, V. Y., et al. (1996) · Neuroreport · doi:10.1097/00001756-199612200-00038 · Cited by 41 · see citing works
Alterations in Dopaminergic Function in Rett Syndrome
Wenk, G. (1995) · Neuropediatrics · doi:10.1055/s-2007-979741 · Cited by 40 · see citing works
Importance of Rett syndrome in child neurology
Dunn, H. G. (2001) · Brain and Development · doi:10.1016/s0387-7604(01)00335-7 · Cited by 33 · see citing works
Self-citationHagberg, G., Stenbom, Y., & Engerström, I. W. (2000) · Acta Paediatrica · doi:10.1111/j.1651-2227.2000.tb01216.x · Cited by 32 · see citing works
Schulte, D., Callado, L. F., Davidson, C., Phillips, P. E. M., Roewer, N., Esch, J. S. A., & Stamford, J. (2000) · British Journal of Anaesthesia · doi:10.1093/oxfordjournals.bja.a013413 · Cited by 32 · see citing works
Propofol Anesthesia Increases Dopamine and Serotonin Activities at the Somatosensory Cortex in Rats
Shyr, M., Tsai, T., Yang, C.-H., et al. (1997) · Anesthesia & Analgesia · doi:10.1097/00000539-199706000-00031 · Cited by 32 · see citing works
Mutation Analysis of MECP2 and Clinical Characterization in Korean Patients With Rett Syndrome
Chae, J., Hwang, Y. S., & Kim, K. J. (2002) · Journal of Child Neurology · doi:10.1177/088307380201700108 · Cited by 31 · see citing works
Moncla, A., Kpebe, A., Missirian, C., Mancini, J., & Villard, L. (2002) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5200761 · Cited by 31 · see citing works
Spontaneous movement, propofol and dopamine receptors.
Hodgson, C., & Roitberg-Henry, A. (1997) · PubMed · Cited by 29 · see citing works
Propofol Anesthesia Increases Dopamine and Serotonin Activities at the Somatosensory Cortex in Rats
Shyr, M., Tsai, T., Yang, C.-H., et al. (1997) · Anesthesia & Analgesia · doi:10.1213/00000539-199706000-00031 · Cited by 26 · see citing works
HOLTJR, L. (1971) · The Journal of Pediatrics · doi:10.1016/s0022-3476(71)80030-6 · Cited by 24 · see citing works
Giunti, L., Pelagatti, S., Lazzerini, V., Guarducci, S., Lapi, E., Coviello, S., Cecconi, A., Ombroni, L., Andreucci, E., Sani, I., et al. (2001) · Brain and Development · doi:10.1016/s0387-7604(01)00342-4 · Cited by 20 · see citing works
Rett syndrome “We’ll keep the genes on for you”
Singer, H. S., & Naidu, S. (2001) · Neurology · doi:10.1212/wnl.56.5.582 · Cited by 17 · see citing works
Observations on hand movements in Rett syndrome: a pilot study
Elian, M., & Rudolf, N. D. M. (1996) · Acta Neurologica Scandinavica · doi:10.1111/j.1600-0404.1996.tb07054.x · Cited by 17 · see citing works
The central autonomic disturbance in Rett syndrome
Julu, P. O. O. (2001) · doi:10.1093/oso/9780192630834.003.0006 · Cited by 17 · see citing works
Chan, G. L.-Y., Doudet, D. J., Dobko, T., et al. (1995) · Life Sciences · doi:10.1016/0024-3205(95)00147-x · Cited by 16 · see citing works
Self-citationGross Motor Disability and Head Growth in Rett Syndrome - A Preliminary Report
Stenbom, Y., Engerström, I. W., & Hagberg, G. (1995) · Neuropediatrics · doi:10.1055/s-2007-979731 · Cited by 15 · see citing works
Rett Syndrome: Evidence for Normal Dopaminergic Function
Wenk, G. L. (1996) · Neuropediatrics · doi:10.1055/s-2007-973774 · Cited by 12 · see citing works
Genetics of Rett syndrome: properties of the newly discovered gene and pathobiology of the disorder
Percy, A. K. (2000) · Current Opinion in Pediatrics · doi:10.1097/00008480-200012000-00014 · Cited by 11 · see citing works
Altered Methylation Pattern of the G6 PD Promoter in Rett Syndrome
Huppke, P., Bohlander, S. K., Krämer, N., et al. (2002) · Neuropediatrics · doi:10.1055/s-2002-32373 · Cited by 9 · see citing works
Closely Related Swedish Rett Syndrome Females - None with MECP2 Mutation Revealed
Xiang, F., Stenbom, Y., Anvret, M., et al. (2001) · Neuropediatrics · doi:10.1055/s-2001-17377 · Cited by 4 · see citing works
Laihinen, A., Rinne, J. O., Någren, K., et al. (1991) · PubMed · Cited by 3 · see citing works
[World congress on Rett syndrome].
Nl, G., & Ulas, V. I. (1997) · PubMed · Cited by 3 · see citing works
Andersen (2000) · doi:10.1002/1098-2396(200008)37:2
Flagged first, then by citations
Research works printed but not linked: 6
- Rett A. Über ein eigenartiges hirnatrophisches Syndrom bei Hyperammonämie im Kindesalter. Wien Med Wochenschr 1966;116:723-726
- Amir RE, Van den Veyver IB, Schultz R, et al. Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes. Ann Neurol 2000;47:670-679.
- Alpern G, Boll T, Shearer M. Developmental Profile II Manual. Los Angeles: Western Psychological Services, 1992:Sixth Edition.
- Stenbom Y, Witt-Engerström I, Hagberg B. Gross motor disability and head growth in Rett syndrome. Neuropediatrics 1995;26:85- 86.
- Rousset OG, Deep P, Kuwabara H, et al. Effect of partial volume correction on estimates of the influx and cerebral metabolism of 6-[ 18 F] fluoro-L-dopa studied with PET in normal control and Parkinson's disease subjects. Synapse 2000;37:81-89.
- Fulton B, Sorkin EM. Propofol, an overview of its pharmacology. Drugs 1995;50:636-657.
Cited by
Sorted by citations
Dichter, G. S., Damiano, C. A., & Allen, J. A. (2012) · Journal of Neurodevelopmental Disorders · doi:10.1186/1866-1955-4-19 · Cited by 299 · see citing works
Wilkes, B. J., & Lewis, M. H. (2018) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2018.05.022 · Cited by 64 · see citing works
- Authors
- Dunn, H. G., Stoessl, A. J., Ho, H. H., MacLeod, P. M., Poskitt, K. J., Doudet, D. J., Schulzer, M., Blackstock, D., Dobko, T., Koop, B., & Amorim, G. V. D.
- Affiliations
- University of British Columbia (CA)
- University of Victoria (CA)
- Venue
- Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques
- Publisher
- Cambridge University Press (CUP)
- Published
- 2002-11
- Volume
- 29
- Issue
- 4
- Pages
- 345-357
- ISSN
- 0317-1671 (ISSN-L)
- 2057-0155
- OpenAlex
- W2012104672
- Cited by
- 32
- References
- 105
- Citations by year
- 2024: 1 · 2023: 1 · 2022: 2 · 2021: 3 · 2019: 2 · 2018: 2 · 2017: 1 · 2015: 3 · 2014: 1 · 2013: 1 · 2012: 2
- FWCI
- 0.71
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques (publishedVersion)
- PubMed (publishedVersion)
- Funders
- TRIUMF
- Vancouver Foundation
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Fetal and Pediatric Neurological Disorders
- Keywords
- Rett syndrome, basal ganglia, caudate nucleus, thalamus, putamen, dopamine D2 receptor binding, nigrostriatal pathway, presynaptic dysfunction, developmental delay, intellectual disability
- MeSH terms
- Adolescent, Adult, Brain, Female, Humans, Magnetic Resonance Imaging, Mutation, Radiography, Tomography, Emission-Computed, Rett Syndrome, Protein Serine-Threonine Kinases, Cell Cycle Proteins, Saccharomyces cerevisiae Proteins, Checkpoint Kinase 2
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
