| Year |
Title |
Altmetric |
| 2018
|
The course of awake breathing disturbances across the lifespan in Rett syndrome
2018
|
|
| 2018
|
Rett syndrome
2018
|
|
| 2018
|
MeCP2 deficiency leads to loss of glial Kir4.1
2018
|
|
| 2017
|
A Double-Blind, Randomized, Placebo-Controlled Clinical Study of Trofinetide in the Treatment of Rett Syndrome
2017
|
|
| 2017
|
Long-term outcomes of children with symptomatic congenital cytomegalovirus disease
2017
|
|
| 2017
|
Scoliosis in Rett Syndrome: Progression, Comorbidities, and Predictors
2017
|
|
| 2017
|
Assessment of Caregiver Inventory for Rett Syndrome
2017
|
|
| 2017
|
Hearing loss in children with asymptomatic congenital cytomegalovirus infection
2017
|
|
| 2017
|
Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2
2017
|
|
| 2017
|
Longitudinal course of epilepsy in Rett syndrome and related disorders
2017
|
|
| 2016
|
From Function to Phenotype: Impaired DNA Binding and Clustering Correlates with Clinical Severity in Males with Missense Mutations in MECP2
2016
|
|
| 2016
|
Loss of MeCP2 causes urological dysfunction and contributes to death by kidney failure in mouse models of rett syndrome
2016
|
|
| 2016
|
Progress in Rett Syndrome: from discovery to clinical trials
2016
|
|
| 2016
|
Caretaker Quality of Life in Rett Syndrome: Disorder Features and Psychological Predictors
2016
|
|
| 2016
|
Clinical guidelines for management of bone health in rett syndrome based on expert consensus and available evidence
2016
|
|
| 2015
|
In Memoriam: Bengt Arthur Hagberg, MD, PhD August 9, 1923-April 12, 2015
2015
|
|
| 2015
|
Rett Syndrome: Reaching for Clinical Trials
2015
|
|
| 2015
|
Age of diagnosis in rett syndrome: Patterns of recognition among diagnosticians and risk factors for late diagnosis
2015
|
|
| 2015
|
Improving Treatment Trial Outcomes for Rett Syndrome
2015
|
|
| 2015
|
The Changing Face of Survival in Rett Syndrome and MECP2-Related Disorders
2015
|
|
| 2015
|
Treatment of cardiac arrhythmias in a mouse model of Rett syndrome with Na<sup>+</sup>-channel-blocking antiepileptic drugs
2015
|
|
| 2014
|
Predictors of serum polychlorinated biphenyl concentrations in Anniston residents
2014
|
|
| 2014
|
Developmental delay in Rett syndrome: Data from the natural history study
2014
|
|
| 2014
|
Development of a genomic DNA reference material panel for rett syndrome (MECP2-related disorders) genetic testing
2014
|
|
| 2014
|
Serum concentrations of polychlorinated biphenyls (PCBs) in participants of the Anniston Community Health Survey
2014
|
|
| 2014
|
Gastrointestinal dysmotility in rett syndrome
2014
|
|
| 2014
|
Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in rett syndrome
2014
|
|
| 2014
|
Erratum to Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in rett syndrome [Am J Med Genet Part A, 161A, (2014) 1638-1646]
2014
|
|
| 2014
|
Pubertal development in rett syndrome deviates from typical females
2014
|
|
| 2014
|
Racial differences in levels of serum lipids and effects of exposure to persistent organic pollutants on lipid levels in residents of Anniston, Alabama
2014
|
|
| 2014
|
The American history of rett syndrome
2014
|
|
| 2013
|
Assessment and management of nutrition and growth in rett syndrome
2013
|
|
| 2013
|
Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in rett syndrome
2013
|
|
| 2013
|
Evaluation of current pharmacological treatment options in the management of Rett syndrome: from the present to future therapeutic alternatives.
2013
|
|
| 2013
|
Path to treat rett syndrome
2013
|
|
| 2013
|
Recent progress in Rett syndrome and MECP2 dysfunction: Assessment of potential treatment options
2013
|
|
| 2012
|
Growth failure and outcome in Rett syndrome: Specific growth references
2012
|
|
| 2012
|
Gastrointestinal and nutritional problems occur frequently throughout life in girls and women with rett syndrome
2012
|
|
| 2012
|
The phenotype associated with a large deletion on MECP2
2012
|
|
| 2012
|
Splice site, frameshift, and chimeric GFAP mutations in Alexander disease
2012
|
|
| 2012
|
Hippocampal CA1 pyramidal neurons of Mecp2 mutant mice show a dendritic spine phenotype only in the presymptomatic stage
2012
|
|
| 2011
|
Rett syndrome: Pathogenesis of lethal cardiac arrhythmias in Mecp2 mutant mice: Implication for therapy in Rett syndrome
2011
|
|
| 2011
|
Clinical severity and quality of life in children and adolescents with Rett syndrome
2011
|
|
| 2011
|
Vitamin D deficiency is prevalent in girls and women with rett syndrome
2011
|
|
| 2011
|
Rett Syndrome: Exploring the autism link
2011
|
|
| 2011
|
Experimental models of rett syndrome based on Mecp2 dysfunction
2011
|
|
| 2010
|
Rett syndrome diagnostic criteria: Lessons from the Natural History Study
2010
|
|
| 2010
|
Rett syndrome: Revised diagnostic criteria and nomenclature
2010
|
|
| 2010
|
Profiling scoliosis in rett syndrome
2010
|
|
| 2010
|
Updating the profile of C-terminal MECP2 deletions in Rett syndrome
2010
|
|
| 2010
|
Epilepsy and the natural history of Rett syndrome
2010
|
|
| 2010
|
Longevity in Rett Syndrome: Analysis of the North American Database
2010
|
|
| 2009
|
Loss of MeCP2 in aminergic neurons causes cell-autonomous defects in neurotransmitter synthesis and specific behavioral abnormalities
2009
|
|
| 2009
|
Variable phenotypic expression of a MECP2 mutation in a family
2009
|
|
| 2009
|
Dendritic spine pathologies in hippocampal pyramidal neurons from Rett syndrome brain and after expression of Rett-associated MECP2 mutations
2009
|
|
| 2009
|
InterRett, a model for international data collection in a rare genetic disorder
2009
|
|
| 2009
|
A study of the treatment of rett syndrome with folate and betaine
2009
|
|
| 2009
|
Bdnf overexpression in hippocampal neurons prevents dendritic atrophy caused by Rett-associated MECP2 mutations
2009
|
|
| 2009
|
FXYD1, a modulator of Na+, K+-ATPase activity, facilitates female sexual development by maintaining gonadotrophin-releasing hormone neuronal excitability
2009
|
|
| 2008
|
Rett syndrome: From recognition to diagnosis to intervention
2008
|
|
| 2008
|
Rett syndrome: Recent research progress
2008
|
|
| 2008
|
Investigating genotype-phenotype relationships in Rett syndrome using an international data set
2008
|
|
| 2008
|
Specific mutations in Methyl-CpG-Binding Protein 2 confer different severity in Rett syndrome
2008
|
|
| 2007
|
Rett syndrome: North American database
2007
|
|
| 2007
|
Rett syndrome deserves your attention
2007
|
|
| 2007
|
Nothing out of sequence? Think deletion!
2007
|
|
| 2006
|
Deep sedation with propofol in patients with Rett syndrome
2006
|
|
| 2006
|
Early progressive encephalopathy in boys and MECP2 mutations
2006
|
|
| 2006
|
Deep sedation with propofol in patients with Rett syndrome
2006
|
|
| 2005
|
Rett syndrome: Model of neurodevelopmental disorders
2005
|
|
| 2005
|
Rett syndrome: Pathogenesis, diagnosis, strategies, therapies, and future research directions
2005
|
|
| 2005
|
Does gender parity exist in Fabry disease?
2005
|
|
| 2005
|
Certification in child neurology: New directions for the twenty-first century
2005
|
|
| 2005
|
Spinal fluid 5-methyltetrahydrofolate levels are normal in Rett syndrome
2005
|
|
| 2005
|
Board certification in child neurology and neurology: Cohort study
2005
|
|
| 2005
|
Interrater agreement in the assessment of motor manifestations of Huntington's disease
2005
|
|
| 2005
|
Mutations in exon 1 of MECP2 are a rare cause of Rett syndrome.
2005
|
|
| 2004
|
Rett syndrome: Clinical and molecular update
2004
|
|
| 2004
|
Phenotypic Manifestations of MECP2 Mutations in Classical and Atypical Rett Syndrome
2004
|
|
| 2004
|
Child neurology training via the research pathway: Outcome study
2004
|
|
| 2004
|
Notice
2004
|
|
| 2003
|
Certification in neurodevelopmental disabilities: The development of a new subspecialty and results of the initial examinations
2003
|
|
| 2003
|
Eating difficulties in girls with Rett syndrome compared with other developmental disabilities
2003
|
|
| 2002
|
Rett syndrome: Current status and new vistas
2002
|
|
| 2002
|
Clinical and genetic heterogeneity in benign hereditary chorea
2002
|
|
| 2002
|
Clinical trials and treatment prospects
2002
|
|
| 2002
|
Mutations in TITF-1 are associated with benign hereditary chorea
2002
|
|
| 2001
|
Rett syndrome: clinical correlates of the newly discovered gene
2001
|
|
| 2001
|
Adrenoleukodystrophy and related disorders
2001
|
|
| 2001
|
Distal infantile neuroaxonal dystrophy - A new familial variant with perineuronal argyrophilic bodies
2001
|
|
| 2001
|
Chromosome 22q and the mind-brain interface: Bedside to bench to bedside
2001
|
|
| 2001
|
Neuropathology of occipital horn syndrome
2001
|
|
| 2000
|
Cocaine inhibition of neuronal differentiation in NGF-induced PC12 cells is independent of ras signaling
2000
|
|
| 2000
|
Genetics of Rett syndrome: Properties of the newly discovered gene and pathobiology of the disorder
2000
|
|
| 2000
|
Pelizaeus-Merzbacher disease: Splice sites are nice sites for disease expression
2000
|
|
| 2000
|
Cocaine inhibits NGF-induced PC12 cells differentiation through D1-type dopamine receptors
2000
|
|
| 2000
|
Decreased cerebrospinal fluid levels of β-phenylethylamine in patients with Rett syndrome
2000
|
|
| 2000
|
Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes
2000
|
|
| 2000
|
Enlarged parietal foramina: Association with cerebral venous and cortical anomalies
2000
|
|
| 1999
|
Eliminating institutional child abuse: A road too well traveled
1999
|
|
| 1999
|
Paul Dyken Lecture of the Southern Pediatric Neurology Society. Inherited neurodegenerative disease: the evolution of our thinking.
1999
|
|
| 1999
|
Rett syndrome: 1H spectroscopic imaging at 4.1 Tesla
1999
|
|
| 1998
|
Rett syndrome: Clinical experience in Alabama
1998
|
|
| 1998
|
Age-related changes in the level of urinary myelin basic protein-like material during childhood
1998
|
|
| 1998
|
C-fos mediates cocaine inhibition of NGF-induced PC12 cell differentiation
1998
|
|
| 1998
|
Cocaine-inhibited neuronal differentiation in NGF-induced PC12 cells and altered C-fos expression are reversed by C-fos antisense oligonucleotide
1998
|
|
| 1998
|
Hand and foot growth failure in Rett syndrome
1998
|
|
| 1998
|
Neonatal encephalopathy in two boys in families with recurrent Rett syndrome
1998
|
|
| 1998
|
The genetic basis of Rett syndrome: Candidate gene considerations
1998
|
|
| 1997
|
Decreased cerebrospinal fluid levels of substance P in patients with Rett syndrome
1997
|
|
| 1997
|
Neurobiology and neurochemistry of Rett syndrome
1997
|
|
| 1997
|
Bobble-head doll syndrome: report of a case and review of the literature.
1997
|
|
| 1997
|
Linking molecular biology to clinical advances in developmental neurology
1997
|
|
| 1997
|
In vitro copper stimulation of plasma peptidylglycine α-amidating monooxygenase in menkes disease variant with occipital horns
1997
|
|
| 1997
|
Krabbe continuum or clinical conundrum?
1997
|
|
| 1996
|
Distinctive Menkes disease variant with occipital horns: Delineation of natural history and clinical phenotype
1996
|
|
| 1996
|
Distinctive Menkes disease variant with occipital horns: delineation of natural history and clinical phenotype.
1996
|
|
| 1996
|
Inhibitory effects of cocaine on NGF-induced neuronal differentiation: Incomplete reversibility after a critical time period
1996
|
|
| 1996
|
Opportunities and challenges in academic neurology: Report of the long range planning committee of the American Neurological Association
1996
|
|
| 1996
|
Polyunsaturated fatty acid accretion in first- and second-trimester human fetal brain: Lack of correlation with levels in paired placental samples
1996
|
|
| 1996
|
Rett syndrome: The evolving picture of a disorder of brain development
1996
|
|
| 1995
|
Concluding remarks
1995
|
|
| 1995
|
Molecular and neurobiology aspects of Rett syndrome
1995
|
|
| 1995
|
Population-based registries using multidisciplinary reporters: A method for the study of pediatric neurologic disorders
1995
|
|
| 1995
|
Rett syndrome
1995
|
|
| 1994
|
Essential fatty acid status is altered in pregnancies complicated by intrauterine growth retardation.
1994
|
|
| 1994
|
Globoid cell leukodystrophy: comparison of neuropathology with magnetic resonance imaging
1994
|
|
| 1994
|
Choline Deficiency in Cultured Adrenal Medullary Cells: Effect on Phosphatidylcholine Biosynthesis
1994
|
|
| 1994
|
Abnormal carbohydrate metabolism in cerebrospinal fluid in Rett syndrome
1994
|
|
| 1994
|
Altered Energy Balance May Account for Growth Failure in Rett Syndrome
1994
|
|
| 1994
|
Electrocardiographic findings in Rett syndrome: An explanation for sudden death?
1994
|
|
| 1994
|
Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus
1994
|
|
| 1994
|
Rett syndrome: Controlled study of an oral opiate antagonist, naltrexone
1994
|
|
| 1993
|
Epidemiology of Rett syndrome: A population-based registry
1993
|
|
| 1993
|
Meeting Report: Second International Rett Syndrome Workshop and Symposium (8-11 October 1992, Orlando, Florida, USA)
1993
|
|
| 1993
|
The Pattern of Growth Failure in Rett Syndrome
1993
|
|
| 1992
|
Childhood metabolic disease with central nervous system involvement
1992
|
|
| 1992
|
Examination of X chromosome markers in Rett syndrome: Exclusion mapping with a novel variation on multilocus linkage analysis
1992
|
|
| 1992
|
Neurochemistry of Rett syndrome
1992
|
|
| 1992
|
Neurochemistry of the Rett syndrome
1992
|
|
| 1992
|
Progressive hearing loss in infants with asymptomatic congenital cytomegalovirus infection
1992
|
|
| 1992
|
The Rett syndrome: The recent advances in genetic studies in the USA
1992
|
|
| 1992
|
Tokyo Symposium on the Rett syndrome: Neurobiological approach - Concluding remarks and epilogue
1992
|
|
| 1991
|
The fatty acid composition of placenta in intrauterine growth retardation
1991
|
|
| 1991
|
Late-infantile Gaucher disease in a child with myoclonus and bulbar signs: neuropathological and neurochemical findings
1991
|
|
| 1991
|
Phosphoglyceride biosynthesis in bovine adrenal chromaffin cells
1991
|
|
| 1991
|
Glycolipids and glycosyltransferases in permanent cell lines established from human medulloblastomas
1991
|
|
| 1991
|
13C NMR spectroscopic analysis of phospholipid metabolism in adrenal chromaffin cells
1991
|
|
| 1991
|
Gangliosides in Human Fetal Brain
1991
|
|
| 1991
|
Glycosphingolipid Glycosyltransferases in Human Fetal Brain
1991
|
|
| 1991
|
Metabolic disease with central nervous system involvement
1991
|
|
| 1990
|
A de novo X;3 translocation in Rett syndrome
1990
|
|
| 1990
|
Asymptomatic Congenital Cytomegalovirus Infection: Audiologic, Neuroradiologic, and Neurodevelopmental Abnormalities During the First Year
1990
|
|
| 1990
|
CSF and urine biogenic amine metabolites in Rett syndrome
1990
|
|
| 1990
|
Clinical and biochemical outcome of marrow transplantation for Gaucher disease of the Norrbottnian type
1990
|
|
| 1990
|
Determination of Gangliosides in Six Human Primary Medulloblastomas
1990
|
|
| 1990
|
Extrapyramidal involvement in Rett’s syndrome
1990
|
|
| 1990
|
Patterns of X chromosome inactivation in the rett syndrome
1990
|
|
| 1990
|
Preface
1990
|
|
| 1990
|
Rapidly progressive Type III Gaucher disease: deterioration following partial splenectomy.
1990
|
|
| 1990
|
Rett syndrome and associated movement disorders
1990
|
|
| 1990
|
Rett syndrome and the autistic disorders
1990
|
|
| 1990
|
Rett syndrome: Cerebellar pathology
1990
|
|
| 1990
|
The Rett syndrome program project at Baylor college of medicine
1990
|
|
| 1990
|
The proceedings of the 5th International Conference on the Rett Syndrome. Vienna, November 4-7, 1988: Preface
1990
|
|
| 1989
|
Cerebrospinal fluid biogenic amines and biopterin in rett syndrome
1989
|
|
| 1989
|
Chiari type I malformation in children
1989
|
|
| 1989
|
Neurometabolic disorders
1989
|
|
| 1989
|
Rett syndrome: Biogenic amines and metabolites in postmortem brain
1989
|
|
| 1988
|
Neuropathology of Rett syndrome
1988
|
|
| 1988
|
Recommendations regarding handling of the necropsy in Rett syndrome
1988
|
|
| 1988
|
Research in Rett syndrome: Past, present, and future
1988
|
|
| 1988
|
Rett syndrome
1988
|
|
| 1988
|
Rett syndrome: Qualitative and quantitative differentiation from autism
1988
|
|
| 1987
|
The inherited neurodegenerative disorders of childhood: clinical assessment.
1987
|
|
| 1987
|
Neurodiagnostic Studies in Krabbe's Disease
1987
|
|
| 1987
|
Rett syndrome: Discrimination of typical and variant forms
1987
|
|
| 1987
|
Rett's Syndrome: Correlation of Electroencephalographic Characteristics With Clinical Staging
1987
|
|
| 1987
|
Rett's syndrome: Characterization of respiratory patterns and sleep
1987
|
|
| 1987
|
Review Article: The Inherited Neurodegenerative Disorders of Childhood: Clinical Assessment
1987
|
|
| 1986
|
Biogenic Amines in the Rett Syndrome
1986
|
|
| 1986
|
Krabbe disease: Specific MRI and CT findings
1986
|
|
| 1985
|
Reduction of Biogenic Amine Levels in the Rett Syndrome
1985
|
|
| 1985
|
Cerebellar hemorrhage in the term neonate: Developmental and neurologic outcome
1985
|
|
| 1985
|
Rett syndrome: Initial experience with an emerging clinical entity
1985
|
|
| 1984
|
Phosphoglyceride biosynthesis by brain microsomes: Centrophenoxine, SaH-42348, and DH-990 inhibit phospholipid N-methylation
1984
|
|
| 1984
|
Necrotizing fasciitis of the parapharyngeal space with carotid artery occlusion and acute hemiplegia
1984
|
|
| 1984
|
Control of phosphatidylethanolamine metabolism in yeast: Diacylglycerol ethanolaminephosphotransferase and diacylglycerol cholinephosphotransferase are separate enzymes
1984
|
|
| 1983
|
Characterization of brain phosphatidylserine decarboxylase: Localization in the mitochondrial inner membrane
1983
|
|
| 1982
|
Properties of Particulate and Detergent‐Solubilized Phospholipid N‐Methyltransferase Activity from Calf Brain
1982
|
|
| 1981
|
Successful conservative management of cerebellar hematomas in term neonates
1981
|
|
| 1973
|
Gm-gangliosidosis type I: in utero detection and fetal manifestations.
1973
|
|
| 1972
|
Neoplasms of the central nervous system: Epidemiologic considerations
1972
|
|
| 1972
|
Optic Neuritis and Multiple Sclerosis: An Epidemiologic Study
1972
|
|
| 1971
|
Multiple Sclerosis in Rochester, Minn: A 60-Year Appraisal
1971
|
|
| 1970
|
Neoplasms of the central nervous system: epidemiologic considerations.
1970
|
|
| 1968
|
Multiple sclerosis in Rochester, Minnesota--a 60-year appraisal.
1968
|
|
