Movement disorders in Rett syndrome: An analysis of 60 patients with detected MECP2 mutation and correlation with mutation type
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G. Oliveira | P. Maciel | P. Cabral | J. Sequeiros | J. P. Vieira | C. Barbot | A. Levy | T. Temudo | A. Cabral | K. Dias | I. Carrilho | A. Moreira | E. Calado | J. P. Monteiro | Manuela M. Santos | R. Gomes | Elisabete Ramos | M. Fonseca | L. Borges | António Levy | Luís Borges
[1] P. Maciel,et al. Abnormal movements in Rett syndrome are present before the regression period: A case study , 2007, Movement disorders : official journal of the Movement Disorder Society.
[2] D. Gilbert. Paediatric movement disorders: Progress in understanding , 2006 .
[3] Laurent Villard,et al. Mecp2 Deficiency Disrupts Norepinephrine and Respiratory Systems in Mice , 2005, The Journal of Neuroscience.
[4] S. Sommer,et al. Detection of heterozygous deletions and duplications in the MECP2 gene in Rett syndrome by Robust Dosage PCR (RD‐PCR) , 2005, Human mutation.
[5] B. Hagberg,et al. Rett females: patterns of characteristic side-asymmetric neuroimpairments at long-term follow-up. , 2003, Neuropediatrics.
[6] F. Hanefeld,et al. 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. , 2002, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.
[7] E. Monrós,et al. Rett syndrome in Spain: mutation analysis and clinical correlations , 2001, Brain and Development.
[8] F. Torricelli,et al. Possible case of Pitt-Hopkins syndrome in sibs. , 2001, American journal of medical genetics.
[9] G. Jamal,et al. Characterisation of breathing and associated central autonomic dysfunction in the Rett disorder , 2001, Archives of disease in childhood.
[10] H. Zoghbi,et al. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2 , 1999, Nature Genetics.
[11] F. Sartucci,et al. Cortical reflex myoclonus in rett syndrome , 1998, Annals of neurology.
[12] B. Hagberg,et al. Rett variants: a suggested model for inclusion criteria. , 1994, Pediatric neurology.
[13] M. Anvret,et al. Rett syndrome—Clinical & biological aspects. , 1993 .
[14] B. Hagberg. Clinical criteria, stages and natural history , 1993 .
[15] M. Pranzatelli. Miscellaneous movement disorders of childhood. , 1993, Pediatric annals.
[16] J. Jankovic,et al. Extrapyramidal involvement in Rett's syndrome , 1990, Neurology.
[17] A. Abdelrahman,et al. Hemodynamic changes that accompany the pressor response to propranolol in urethane anesthetized rats subjected to alpha-blockade. , 1990, Pharmacology.
[18] H. Gastaut,et al. Compulsive respiratory stereotypies in children with autistic features: Polygraphic recording and treatment with fenfluramine , 1987, Journal of autism and developmental disorders.
[19] M. Segawa,et al. Rett syndrome—Clinical studies and pathophysiological consideration , 1984, Brain and Development.
[20] D Stewart,et al. Reducing severe diurnal bruxism in two profoundly retarded females. , 1982, Journal of applied behavior analysis.
[21] F. Andermann,et al. Familial Agenesis of the Cerebellar Vermis: A Syndrome of Episodic Hyperpnea, Abnormal Eye Movements, Ataxia, and Retardation , 1999, Neurology.
[22] F. Andermann,et al. Familial agenesis of the cerebellar vermis , 1969, Neurology.