Published in Brain Dev on August 01, 2003
Natural History of Rett Syndrome & Related Disorders | NCT02738281
Biobanking of Rett Syndrome and Related Disorders | NCT02705677
Macrocephalic mental retardation associated with a novel C-terminal MECP2 frameshift deletion. Eur J Pediatr (2004) 1.39
The relationship of Rett syndrome and MECP2 disorders to autism. Dialogues Clin Neurosci (2012) 1.18
Very mild cases of Rett syndrome with skewed X inactivation. J Med Genet (2006) 0.95
Gross motor profile in rett syndrome as determined by video analysis. Neuropediatrics (2009) 0.95
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Training communication abilities in Rett Syndrome through reading and writing. Front Psychol (2013) 0.77
Functional outcomes in Rett syndrome. Brain Dev (2015) 0.75
A sibship with duplication of Xq28 inherited from the mother; genomic characterization and clinical outcomes. BMC Med Genet (2017) 0.75
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. Eur J Paediatr Neurol (2002) 3.26
Ullrich congenital muscular dystrophy: connective tissue abnormalities in the skin support overlap with Ehlers-Danlos syndromes. Am J Med Genet A (2005) 2.16
Okihiro syndrome is caused by SALL4 mutations. Hum Mol Genet (2002) 2.06
Valproic acid-induced pancreatitis: 16 new cases and a review of the literature. J Gastroenterol (2007) 1.88
Usefulness of losartan on the size of the ascending aorta in an unselected cohort of children, adolescents, and young adults with Marfan syndrome. Am J Cardiol (2013) 1.68
Treatment of early onset multiple sclerosis with subcutaneous interferon beta-1a. Neurology (2005) 1.65
Pediatric multiple sclerosis: detection of clinically silent lesions by multimodal evoked potentials. J Pediatr (2006) 1.61
Common infectious agents in multiple sclerosis: a case-control study in children. Mult Scler (2007) 1.44
Actin-related myopathy without any missense mutation in the ACTA1 gene. J Child Neurol (2004) 1.42
Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndrome. Eur J Hum Genet (2005) 1.38
Virchow-Robin spaces on magnetic resonance images: normative data, their dilatation, and a review of the literature. Neuroradiology (2006) 1.37
Nuclear localization of ataxin-3 is required for the manifestation of symptoms in SCA3: in vivo evidence. J Neurosci (2007) 1.34
Rapid detection of subtelomeric deletion/duplication by novel real-time quantitative PCR using SYBR-green dye. Hum Mutat (2004) 1.25
Severe encephalopathy with epilepsy in an infant caused by subclinical maternal pernicious anaemia: case report and review of the literature. Eur J Pediatr (2004) 1.23
Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene. Ann Neurol (2004) 1.20
Two brothers with findings resembling congenital intrauterine infection-like syndrome (pseudo-TORCH syndrome). Am J Med Genet A (2003) 1.16
X-linked paroxysmal dyskinesia and severe global retardation caused by defective MCT8 gene. J Neurol (2005) 1.08
The S18Y polymorphism in the UCHL1 gene is a genetic modifier in Huntington's disease. Neurogenetics (2005) 1.06
Protein surveillance machinery in brains with spinocerebellar ataxia type 3: redistribution and differential recruitment of 26S proteasome subunits and chaperones to neuronal intranuclear inclusions. Ann Neurol (2002) 1.04
Mutations and polymorphisms in the human methyl CpG-binding protein MECP2. Hum Mutat (2003) 1.04
Paediatric multiple sclerosis and acute disseminated encephalomyelitis in Germany: results of a nationwide survey. Eur J Pediatr (2007) 1.04
Identification of a novel CDKL5 exon and pathogenic mutations in patients with severe mental retardation, early-onset seizures and Rett-like features. Neurogenetics (2011) 1.02
Succinate in dystrophic white matter: a proton magnetic resonance spectroscopy finding characteristic for complex II deficiency. Ann Neurol (2002) 1.00
Genetic analysis of candidate genes modifying the age-at-onset in Huntington's disease. Hum Genet (2006) 1.00
Identification of ten novel mutations in patients with eIF2B-related disorders. Hum Mutat (2005) 0.99
Intrathecal antibody production against Epstein-Barr and other neurotropic viruses in pediatric and adult onset multiple sclerosis. J Neurol (2009) 0.98
Evaluation of the preventive effect of glyceryl trioleate-trierucate ("Lorenzo's oil") therapy in X-linked adrenoleukodystrophy: results of two concurrent trials. Adv Exp Med Biol (2003) 0.97
Williams-Beuren syndrome: determination of deletion size using quantitative real-time PCR. Int J Mol Med (2006) 0.94
Deficiency of dolichyl-P-Man:Man7GlcNAc2-PP-dolichyl mannosyltransferase causes congenital disorder of glycosylation type Ig. Biochem J (2002) 0.93
Haematopoietic stem cell transplantation in 12 patients with cerebral X-linked adrenoleukodystrophy. Eur J Pediatr (2002) 0.93
Variations of frataxin protein levels in normal individuals. Neurol Sci (2010) 0.90
A transgenic mouse model of spinocerebellar ataxia type 3 resembling late disease onset and gender-specific instability of CAG repeats. Neurobiol Dis (2009) 0.89
'Relabelling the preserved speech variant of Rett syndrome?'. Dev Med Child Neurol (2009) 0.89
A novel GFAP mutation and disseminated white matter lesions: adult Alexander disease? Eur Neurol (2003) 0.88
Cerebral proton magnetic resonance spectroscopy of a patient with giant axonal neuropathy. Brain Dev (2003) 0.88
Case report: Retracing atypical development: a preserved speech variant of Rett syndrome. J Autism Dev Disord (2009) 0.86
Cerebral proton magnetic resonance spectroscopy in infantile Alexander disease. J Neurol (2003) 0.83
Chronic thalamic stimulation in a patient with spinocerebellar ataxia type 2. Mov Disord (2003) 0.83
Monocyte/macrophage differentiation in dermatomyositis and polymyositis. Muscle Nerve (2004) 0.82
Tarsal tunnel syndrome in a 7-year-old boy. Eur J Pediatr (2003) 0.81
Role of leukotrienes as indicators of the inflammatory demyelinating reaction in x-linked cerebral adrenoleukodystrophy. J Neurol (2003) 0.81
Evaluation of Cx26/GJB2 in German hearing impaired persons: mutation spectrum and detection of disequilibrium between M34T (c.101T>C) and -493del10. Hum Mutat (2003) 0.80
Trinucleotide repeat expansions in the junctophilin-3 gene are not found in Caucasian patients with a Huntington's disease-like phenotype. Ann Neurol (2002) 0.80
Eosinophilic fasciitis leading to painless contractures. Eur J Pediatr (2002) 0.79
Quantitative proton MRS of cerebral metabolites in laminin alpha2 chain deficiency. Brain Dev (2006) 0.79
Magnetic resonance imaging and proton magnetic resonance spectroscopy of megalencephaly and dilated Virchow-Robin spaces. Pediatr Neurol (2006) 0.78
Mutation analysis of the HDAC 1, 2, 8 and CDKL5 genes in Rett syndrome patients without mutations in MECP2. Am J Med Genet A (2005) 0.78
De novo MECP2 mutation in a 46,XX male patient with Rett syndrome. Neurogenetics (2002) 0.78
Detection of survival motor neuron protein in buccal cells through electrochemiluminescence-based assay. Assay Drug Dev Technol (2015) 0.78
Patient with actin aggregate myopathy and not formerly identified ACTA1 mutation is heterozygous for the Gly15Arg mutation of ACTA1, which has previously been associated with actinopathy. J Child Neurol (2006) 0.77
Progressive muscle weakness after high-dose steroids in two children with CIDP. Pediatr Neurol (2003) 0.77
Unusual localization of a choroid plexus papilloma in a 4-year-old female. Pediatr Neurol (2003) 0.77
Myelin oligodendrocyte gene polymorphisms and childhood multiple sclerosis. Pediatr Res (2002) 0.77
Dilated, arrhythmogenic cardiomyopathy in emery-dreifuss muscular dystrophy due to the emerin splice-site mutation c.449 + 1G>A. Cardiology (2014) 0.76
EEG features of glut-1 deficiency syndrome. Epilepsia (2002) 0.75
Correction: Increasing Live Birth Rate by Preimplantation Genetic Screening of Pooled Polar Bodies Using Array Comparative Genomic Hybridization. PLoS One (2015) 0.75
Virchow-Robin spaces on magnetic resonance images of children with adrenoleukodystrophy. Eur J Paediatr Neurol (2007) 0.75
Indication for genetic testing: a checklist for Rett syndrome. J Pediatr (2003) 0.75
Recurrent optic neuritis associated with Chlamydia pneumoniae infection of the central nervous system. Dev Med Child Neurol (2006) 0.75
A Pediatric Patient with a CYP24A1 Mutation: Four Years of Clinical, Biochemical, and Imaging Follow-Up. Horm Res Paediatr (2016) 0.75
A new COL3A1 mutation in Ehlers-Danlos syndrome type IV. Exp Dermatol (2013) 0.75