| Year |
Title |
Altmetric |
| 2022
|
In Memoriam: Folker Hanefeld, MD, PhD, June 28, 1937-May 9, 2022..
Journal of Child Neurology.
8830738221116242.
2022
|
|
| 2022
|
Anthropometric Measures Correspond with Functional Motor Outcomes in Females with Rett Syndrome.
Journal of Pediatrics.
244:169-177.e3.
2022
|
|
| 2022
|
Design and outcome measures of LAVENDER, a phase 3 study of trofinetide for Rett syndrome.
Contemporary Clinical Trials.
114.
2022
|
|
| 2021
|
Microbial community changes in a female rat model of Rett syndrome.
Progress in Neuro-Psychopharmacology and Biological Psychiatry.
109.
2021
|
|
| 2021
|
Multisite Study of Evoked Potentials in Rett Syndrome.
Annals of Neurology.
89:790-802.
2021
|
|
| 2021
|
Phenotypic features in MECP2 duplication syndrome: Effects of age.
American Journal of Medical Genetics Part A.
185:362-369.
2021
|
|
| 2020
|
A Psychometric Evaluation of the Motor-Behavioral Assessment Scale for Use as an Outcome Measure in Rett Syndrome Clinical Trials.
American Journal on Intellectual and Developmental Disabilities.
125:493-509.
2020
|
|
| 2020
|
Comparison of Core Features in Four Developmental Encephalopathies in the Rett Natural History Study.
Annals of Neurology.
88:396-406.
2020
|
|
| 2020
|
Metabolic Signatures Differentiate Rett Syndrome From Unaffected Siblings.
Frontiers in Integrative Neuroscience.
14.
2020
|
|
| 2020
|
Rett syndrome: Novel correlations linking >96% genotype, disease severity, and seizures
2020
|
|
| 2019
|
Severity Assessment in CDKL5 Deficiency Disorder.
Pediatric Neurology.
97:38-42.
2019
|
|
| 2019
|
Biliary Tract Disease in Girls and Young Women with Rett Syndrome.
Journal of Pediatric Gastroenterology and Nutrition.
68:799-805.
2019
|
|
| 2019
|
Hand stereotypies: Lessons from the Rett Syndrome Natural History Study.
Neurology.
92:E2594-E2603.
2019
|
|
| 2019
|
Characterizing the phenotypic effect of Xq28 duplication size in MECP2 duplication syndrome
2019
|
|
| 2019
|
Double-blind, randomized, placebo-controlled study of trofinetide in pediatric Rett syndrome.
Neurology.
92:E1912-E1925.
2019
|
|
| 2019
|
Behavioral profiles in Rett syndrome: Data from the natural history study
2019
|
|
| 2019
|
The array of clinical phenotypes of males with mutations in Methyl-CpG binding protein 2.
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics.
180:55-67.
2019
|
|
| 2018
|
The course of awake breathing disturbances across the lifespan in Rett syndrome
2018
|
|
| 2018
|
When Rett syndrome is due to genes other than MECP2.
2018
|
|
| 2018
|
Rett syndrome.
Anasthesiologie und Intensivmedizin.
59:S117-S124.
2018
|
|
| 2018
|
MeCP2 deficiency leads to loss of glial Kir4.1.
eNeuro.
5.
2018
|
|
| 2017
|
A Double-Blind, Randomized, Placebo-Controlled Clinical Study of Trofinetide in the Treatment of Rett Syndrome.
Pediatric Neurology.
76:37-46.
2017
|
|
| 2017
|
Long-term outcomes of children with symptomatic congenital cytomegalovirus disease.
Journal of Perinatology.
37:875-880.
2017
|
|
| 2017
|
Scoliosis in Rett Syndrome: Progression, Comorbidities, and Predictors.
Pediatric Neurology.
70:20-25.
2017
|
|
| 2017
|
Assessment of Caregiver Inventory for Rett Syndrome.
Journal of Autism and Developmental Disorders.
47:1102-1112.
2017
|
|
| 2017
|
Hearing loss in children with asymptomatic congenital cytomegalovirus infection.
Pediatrics.
139.
2017
|
|
| 2017
|
Longitudinal course of epilepsy in Rett syndrome and related disorders
2017
|
|
| 2017
|
Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2.
Genetics in Medicine.
19:13-19.
2017
|
|
| 2016
|
From Function to Phenotype: Impaired DNA Binding and Clustering Correlates with Clinical Severity in Males with Missense Mutations in MECP2.
Scientific Reports.
6.
2016
|
|
| 2016
|
Loss of MeCP2 causes urological dysfunction and contributes to death by kidney failure in mouse models of rett syndrome.
PLoS One.
11.
2016
|
|
| 2016
|
Progress in Rett Syndrome: from discovery to clinical trials.
Wiener Medizinische Wochenschrift.
166:325-332.
2016
|
|
| 2016
|
The partnership of patient advocacy groups and clinical investigators in the rare diseases clinical research network..
Orphanet Journal of Rare Diseases.
11:66.
2016
|
|
| 2016
|
Caretaker Quality of Life in Rett Syndrome: Disorder Features and Psychological Predictors.
Pediatric Neurology.
58:67-74.
2016
|
|
| 2016
|
Clinical guidelines for management of bone health in rett syndrome based on expert consensus and available evidence.
PLoS One.
11.
2016
|
|
| 2016
|
Clinical-genetic associations in the Prospective Huntington at Risk Observational Study (PHAROS) implications for clinical trials.
JAMA Neurology.
73:102-110.
2016
|
|
| 2015
|
Improving Treatment Trial Outcomes for Rett Syndrome.
Journal of Child Neurology.
30:1743-1748.
2015
|
|
| 2015
|
The Changing Face of Survival in Rett Syndrome and MECP2-Related Disorders.
Pediatric Neurology.
53:402-411.
2015
|
|
| 2015
|
In Memoriam: Bengt Arthur Hagberg, MD, PhD August 9, 1923-April 12, 2015.
Pediatric Neurology.
53.
2015
|
|
| 2015
|
Rett Syndrome: Reaching for Clinical Trials.
Neurotherapeutics.
12:631-640.
2015
|
|
| 2015
|
Age of diagnosis in rett syndrome: Patterns of recognition among diagnosticians and risk factors for late diagnosis.
Pediatric Neurology.
52:585-591.e2.
2015
|
|
| 2015
|
Treatment of cardiac arrhythmias in a mouse model of Rett syndrome with Na+-channel-blocking antiepileptic drugs.
Disease Models and Mechanisms.
8:363-371.
2015
|
|
| 2015
|
MeCP2 in the regulation of neural activity: Rett syndrome pathophysiological perspectives..
Degenerative Neurological and Neuromuscular Disease.
5:103-116.
2015
|
|
| 2014
|
Pubertal development in rett syndrome deviates from typical females.
Pediatric Neurology.
51:769-775.
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.
Environment International.
73:216-223.
2014
|
|
| 2014
|
Predictors of serum polychlorinated biphenyl concentrations in Anniston residents.
Science of the Total Environment.
496:624-634.
2014
|
|
| 2014
|
Developmental delay in Rett syndrome: Data from the natural history study.
Journal of Neurodevelopmental Disorders.
6.
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.
Science of the Total Environment.
473-474:286-297.
2014
|
|
| 2014
|
Gastrointestinal dysmotility in rett syndrome.
Journal of Pediatric Gastroenterology and Nutrition.
58:237-244.
2014
|
|
| 2014
|
Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in rett syndrome.
Journal of Medical Genetics.
51:152-158.
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].
American Journal of Medical Genetics Part A.
164:1346.
2014
|
|
| 2014
|
The American history of rett syndrome.
Pediatric Neurology.
50:1-3.
2014
|
|
| 2013
|
Analysis of the effects of exposure to polychlorinated biphenyls and chlorinated pesticides on serum lipid levels in residents of Anniston, Alabama.
2013
|
|
| 2013
|
Assessment and management of nutrition and growth in rett syndrome.
Journal of Pediatric Gastroenterology and Nutrition.
57:451-460.
2013
|
|
| 2013
|
Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in rett syndrome.
American Journal of Medical Genetics Part A.
161:1638-1646.
2013
|
|
| 2013
|
Evaluation of current pharmacological treatment options in the management of Rett syndrome: from the present to future therapeutic alternatives..
Current Clinical Pharmacology.
8:358-369.
2013
|
|
| 2013
|
Path to treat rett syndrome.
Science.
342:318-320.
2013
|
|
| 2013
|
Recent progress in Rett syndrome and MECP2 dysfunction: Assessment of potential treatment options.
Future Neurology.
8:21-28.
2013
|
|
| 2012
|
Growth failure and outcome in Rett syndrome: Specific growth references.
Neurology.
79:1653-1661.
2012
|
|
| 2012
|
Gastrointestinal and nutritional problems occur frequently throughout life in girls and women with rett syndrome.
Journal of Pediatric Gastroenterology and Nutrition.
55:292-298.
2012
|
|
| 2012
|
The phenotype associated with a large deletion on MECP2.
European Journal of Human Genetics.
20:921-927.
2012
|
|
| 2012
|
Splice site, frameshift, and chimeric GFAP mutations in Alexander disease.
Human Mutation.
33:1141-1148.
2012
|
|
| 2012
|
Polychlorinated biphenyl (PCB) exposure and diabetes: results from the Anniston Community Health Survey..
Environmental Health Perspectives.
120:727-732.
2012
|
|
| 2012
|
Hippocampal CA1 pyramidal neurons of Mecp2 mutant mice show a dendritic spine phenotype only in the presymptomatic stage.
Neural Plasticity.
2012.
2012
|
|
| 2011
|
Rett syndrome: Pathogenesis of lethal cardiac arrhythmias in Mecp2 mutant mice: Implication for therapy in Rett syndrome.
Science Translational Medicine.
3.
2011
|
|
| 2011
|
Clinical severity and quality of life in children and adolescents with Rett syndrome.
Neurology.
77:1812-1818.
2011
|
|
| 2011
|
Vitamin D deficiency is prevalent in girls and women with rett syndrome.
Journal of Pediatric Gastroenterology and Nutrition.
53:569-574.
2011
|
|
| 2011
|
MATERNAL EXPOSURE TO POLYCHLORINATED BIPHENYLS AND LOW BIRTH WEIGHT AMONG RESIDENTS OF ANNISTON, ALABAMA
2011
|
|
| 2011
|
Rett Syndrome: Exploring the autism link.
JAMA Neurology.
68:985-989.
2011
|
|
| 2011
|
Blood pressure in relation to concentrations of PCB congeners and chlorinated pesticides..
Environmental Health Perspectives.
119:319-325.
2011
|
|
| 2011
|
Experimental models of rett syndrome based on Mecp2 dysfunction.
Experimental Biology and Medicine.
236:3-19.
2011
|
|
| 2010
|
Rett syndrome diagnostic criteria: Lessons from the Natural History Study.
Annals of Neurology.
68:951-955.
2010
|
|
| 2010
|
Rett syndrome: Revised diagnostic criteria and nomenclature.
Annals of Neurology.
68:944-950.
2010
|
|
| 2010
|
Blood pressure and hypertension in relation to levels of serum polychlorinated biphenyls in residents of Anniston, Alabama..
Journal of Hypertension.
28:2053-2060.
2010
|
|
| 2010
|
Profiling scoliosis in rett syndrome.
Pediatric Research.
67:435-439.
2010
|
|
| 2010
|
Updating the profile of C-terminal MECP2 deletions in Rett syndrome.
Journal of Medical Genetics.
47:242-248.
2010
|
|
| 2010
|
Epilepsy and the natural history of Rett syndrome.
Neurology.
74:909-912.
2010
|
|
| 2010
|
Longevity in Rett Syndrome: Analysis of the North American Database.
Journal of Pediatrics.
156.
2010
|
|
| 2009
|
Loss of MeCP2 in aminergic neurons causes cell-autonomous defects in neurotransmitter synthesis and specific behavioral abnormalities
2009
|
|
| 2009
|
Dietary intake in adults at risk for Huntington disease: analysis of PHAROS research participants..
Neurology.
73:385-392.
2009
|
|
| 2009
|
Dendritic spine pathologies in hippocampal pyramidal neurons from Rett syndrome brain and after expression of Rett-associated MECP2 mutations.
Neurobiology of Disease.
35:219-233.
2009
|
|
| 2009
|
InterRett, a model for international data collection in a rare genetic disorder.
Research in Autism Spectrum Disorders.
3:639-659.
2009
|
|
| 2009
|
A study of the treatment of rett syndrome with folate and betaine.
Journal of Child Neurology.
24:551-556.
2009
|
|
| 2009
|
Bdnf overexpression in hippocampal neurons prevents dendritic atrophy caused by Rett-associated MECP2 mutations.
Neurobiology of Disease.
34:199-211.
2009
|
|
| 2009
|
FXYD1, a modulator of Na+, K+-ATPase activity, facilitates female sexual development by maintaining gonadotrophin-releasing hormone neuronal excitability.
Journal of Neuroendocrinology.
21:108-122.
2009
|
|
| 2009
|
Rare Disease clinical research network.
Molecular Genetics and Metabolism.
96:20-26.
2009
|
|
| 2009
|
Variable phenotypic expression of a MECP2 mutation in a family.
Journal of Neurodevelopmental Disorders.
1:313-317.
2009
|
|
| 2008
|
Fear of health insurance loss among individuals at risk for Huntington disease..
American Journal of Medical Genetics Part A.
146A:2070-2077.
2008
|
|
| 2008
|
Rett syndrome: From recognition to diagnosis to intervention.
Expert Review of Endocrinology and Metabolism.
3:327-336.
2008
|
|
| 2008
|
Rett syndrome: Recent research progress.
Journal of Child Neurology.
23:543-549.
2008
|
|
| 2008
|
Investigating genotype-phenotype relationships in Rett syndrome using an international data set.
Neurology.
70:868-875.
2008
|
|
| 2008
|
Specific mutations in Methyl-CpG-Binding Protein 2 confer different severity in Rett syndrome.
Neurology.
70:1313-1321.
2008
|
|
| 2007
|
Rett syndrome: North American database.
Journal of Child Neurology.
22:1338-1341.
2007
|
|
| 2007
|
Predictors of diagnosis in Huntington disease.
Neurology.
68:1710-1717.
2007
|
|
| 2007
|
Rett syndrome deserves your attention.
Future Neurology.
2:233-236.
2007
|
|
| 2007
|
Nothing out of sequence? Think deletion!.
Neurology.
68:975-976.
2007
|
|
| 2006
|
At risk for Huntington disease: The PHAROS (Prospective Huntington At Risk Observational Study) cohort enrolled..
JAMA Neurology.
63:991-996.
2006
|
|
| 2006
|
Early progressive encephalopathy in boys and MECP2 mutations.
Neurology.
67:164-166.
2006
|
|
| 2006
|
Deep sedation with propofol in patients with Rett syndrome.
Journal of Child Neurology.
21:210-213.
2006
|
|
| 2005
|
Does gender parity exist in Fabry disease?.
Neurology.
65:508-509.
2005
|
|
| 2005
|
Certification in child neurology: New directions for the twenty-first century.
Journal of Child Neurology.
20:644-647.
2005
|
|
| 2005
|
Spinal fluid 5-methyltetrahydrofolate levels are normal in Rett syndrome.
Neurology.
64:2151-2152.
2005
|
|
| 2005
|
Board certification in child neurology and neurology: Cohort study.
Journal of Child Neurology.
20:25-27.
2005
|
|
| 2005
|
Interrater agreement in the assessment of motor manifestations of Huntington's disease.
Movement Disorders.
20:293-297.
2005
|
|
| 2005
|
Mutations in exon 1 of MECP2 are a rare cause of Rett syndrome..
Journal of Medical Genetics.
42.
2005
|
|
| 2005
|
Rett syndrome: Model of neurodevelopmental disorders.
Journal of Child Neurology.
20:718-721.
2005
|
|
| 2005
|
Rett syndrome: Pathogenesis, diagnosis, strategies, therapies, and future research directions.
Journal of Child Neurology.
20:708-717.
2005
|
|
| 2004
|
Rett syndrome: Clinical and molecular update.
Current Opinion in Pediatrics.
16:670-677.
2004
|
|
| 2004
|
Phenotypic Manifestations of MECP2 Mutations in Classical and Atypical Rett Syndrome.
American Journal of Medical Genetics Part A.
126 A:129-140.
2004
|
|
| 2004
|
Child neurology training via the research pathway: Outcome study.
Journal of Child Neurology.
19:142-144.
2004
|
|
| 2004
|
Notice.
Journal of Child Neurology.
19:78.
2004
|
|
| 2003
|
Certification in neurodevelopmental disabilities: The development of a new subspecialty and results of the initial examinations.
Developmental Disabilities Research Reviews.
9:128-131.
2003
|
|
| 2003
|
Eating difficulties in girls with Rett syndrome compared with other developmental disabilities.
Journal of the Academy of Nutrition and Dietetics.
103:224-230.
2003
|
|
| 2002
|
Rett syndrome: Current status and new vistas.
Neurologic Clinics.
20:1125-1141.
2002
|
|
| 2002
|
Clinical and genetic heterogeneity in benign hereditary chorea.
Neurology.
59:579-584.
2002
|
|
| 2002
|
Clinical trials and treatment prospects.
Developmental Disabilities Research Reviews.
8:106-111.
2002
|
|
| 2002
|
Mutations in TITF-1 are associated with benign hereditary chorea.
Human Molecular Genetics.
11:971-979.
2002
|
|
| 2001
|
Adrenoleukodystrophy and related disorders.
Developmental Disabilities Research Reviews.
7:179-189.
2001
|
|
| 2001
|
Chromosome 22q and the mind-brain interface: Bedside to bench to bedside.
Neurology.
57:377-378.
2001
|
|
| 2001
|
Distal infantile neuroaxonal dystrophy - A new familial variant with perineuronal argyrophilic bodies.
Acta Neuropathologica.
102:83-88.
2001
|
|
| 2001
|
Neuropathology of occipital horn syndrome.
Journal of Child Neurology.
16:764-766.
2001
|
|
| 2001
|
Rett syndrome: clinical correlates of the newly discovered gene
2001
|
|
| 2000
|
Cocaine inhibition of neuronal differentiation in NGF-induced PC12 cells is independent of ras signaling.
International Journal of Developmental Neuroscience.
18:765-772.
2000
|
|
| 2000
|
Genetics of Rett syndrome: Properties of the newly discovered gene and pathobiology of the disorder.
Current Opinion in Pediatrics.
12:589-595.
2000
|
|
| 2000
|
Pelizaeus-Merzbacher disease: Splice sites are nice sites for disease expression.
Neurology.
55:1072-1073.
2000
|
|
| 2000
|
Cocaine inhibits NGF-induced PC12 cells differentiation through D1-type dopamine receptors.
Brain Research.
869:85-97.
2000
|
|
| 2000
|
Decreased cerebrospinal fluid levels of β-phenylethylamine in patients with Rett syndrome.
Annals of Neurology.
47:801-803.
2000
|
|
| 2000
|
Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes.
Annals of Neurology.
47:670-679.
2000
|
|
| 2000
|
Enlarged parietal foramina: Association with cerebral venous and cortical anomalies.
Neurology.
54:1175-1178.
2000
|
|
| 2000
|
Topics in Pediatrics
2000
|
|
| 1999
|
Eliminating institutional child abuse: A road too well traveled.
Neurology.
53:1617-1621.
1999
|
|
| 1999
|
Paul Dyken Lecture of the Southern Pediatric Neurology Society. Inherited neurodegenerative disease: the evolution of our thinking..
Journal of Child Neurology.
14:256-262.
1999
|
|
| 1999
|
Rett syndrome: 1H spectroscopic imaging at 4.1 Tesla.
Journal of Child Neurology.
14:524-528.
1999
|
|
| 1998
|
Rett syndrome: Clinical experience in Alabama.
Rivista Medica.
4:207-210.
1998
|
|
| 1998
|
Cocaine-Inhibited Neuronal Differentiation in NGF-Induced PC12 Cells and Altered C-fos Expression Are Reversed by C-fos Antisense Oligonucleotidea..
Annals of the New York Academy of Sciences.
846:427-430.
1998
|
|
| 1998
|
Age-related changes in the level of urinary myelin basic protein-like material during childhood.
Neurology.
51:1339-1341.
1998
|
|
| 1998
|
C-fos mediates cocaine inhibition of NGF-induced PC12 cell differentiation.
Molecular Genetics and Metabolism.
64:62-69.
1998
|
|
| 1998
|
Hand and foot growth failure in Rett syndrome.
Journal of Child Neurology.
13:71-74.
1998
|
|
| 1998
|
Neonatal encephalopathy in two boys in families with recurrent Rett syndrome.
Journal of Child Neurology.
13:229-231.
1998
|
|
| 1998
|
The genetic basis of Rett syndrome: Candidate gene considerations.
Molecular Genetics and Metabolism.
64:1-6.
1998
|
|
| 1997
|
Decreased cerebrospinal fluid levels of substance P in patients with Rett syndrome.
Annals of Neurology.
42:978-981.
1997
|
|
| 1997
|
Neurobiology and neurochemistry of Rett syndrome
1997
|
|
| 1997
|
Bobble-head doll syndrome: report of a case and review of the literature..
Movement Disorders.
12:810-814.
1997
|
|
| 1997
|
Hand in Hand with Rett Syndrome
1997
|
|
| 1997
|
In vitro copper stimulation of plasma peptidylglycine α-amidating monooxygenase in menkes disease variant with occipital horns.
Pediatric Research.
42:862-865.
1997
|
|
| 1997
|
Krabbe continuum or clinical conundrum?.
Neurology.
49:1203-1204.
1997
|
|
| 1997
|
Linking molecular biology to clinical advances in developmental neurology.
Current Opinion in Neurology.
10:129-130.
1997
|
|
| 1996
|
Distinctive Menkes disease variant with occipital horns: Delineation of natural history and clinical phenotype.
American Journal of Medical Genetics Part A.
65:44-51.
1996
|
|
| 1996
|
Inhibitory effects of cocaine on NGF-induced neuronal differentiation: Incomplete reversibility after a critical time period.
Brain Research.
729:270-272.
1996
|
|
| 1996
|
Opportunities and challenges in academic neurology: Report of the long range planning committee of the American Neurological Association.
Annals of Neurology.
39:693-699.
1996
|
|
| 1996
|
Polyunsaturated fatty acid accretion in first- and second-trimester human fetal brain: Lack of correlation with levels in paired placental samples.
Molecular Genetics and Metabolism.
59:38-43.
1996
|
|
| 1996
|
Rett syndrome: The evolving picture of a disorder of brain development.
Developmental Brain Dysfunction.
9:180-186.
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.
Journal of Clinical Epidemiology.
48:1069-1076.
1995
|
|
| 1995
|
Rett syndrome.
Current Opinion in Neurology.
8:156-160.
1995
|
|
| 1994
|
Essential fatty acid status is altered in pregnancies complicated by intrauterine growth retardation..
World Review of Nutrition and Dietetics.
76:105-109.
1994
|
|
| 1994
|
Globoid cell leukodystrophy: comparison of neuropathology with magnetic resonance imaging.
Acta Neuropathologica.
88:26-32.
1994
|
|
| 1994
|
Choline Deficiency in Cultured Adrenal Medullary Cells: Effect on Phosphatidylcholine Biosynthesis.
Molecular Genetics and Metabolism.
51:169-174.
1994
|
|
| 1994
|
Abnormal carbohydrate metabolism in cerebrospinal fluid in Rett syndrome.
Journal of Child Neurology.
9:26-30.
1994
|
|
| 1994
|
Altered Energy Balance May Account for Growth Failure in Rett Syndrome.
Journal of Child Neurology.
9:315-319.
1994
|
|
| 1994
|
Electrocardiographic findings in Rett syndrome: An explanation for sudden death?.
Journal of Pediatrics.
125:80-82.
1994
|
|
| 1994
|
Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus.
Nature Genetics.
8:195-202.
1994
|
|
| 1994
|
Rett syndrome: Controlled study of an oral opiate antagonist, naltrexone.
Annals of Neurology.
35:464-470.
1994
|
|
| 1993
|
Epidemiology of Rett syndrome: A population-based registry.
Pediatrics.
91:445-450.
1993
|
|
| 1993
|
Meeting Report: Second International Rett Syndrome Workshop and Symposium (8-11 October 1992, Orlando, Florida, USA).
Journal of Child Neurology.
8:97-100.
1993
|
|
| 1993
|
The Pattern of Growth Failure in Rett Syndrome.
JAMA Pediatrics.
147:633-637.
1993
|
|
| 1992
|
Childhood metabolic disease with central nervous system involvement.
Current Opinion in Pediatrics.
4:940-948.
1992
|
|
| 1992
|
Examination of X chromosome markers in Rett syndrome: Exclusion mapping with a novel variation on multilocus linkage analysis.
American Journal of Human Genetics.
50:278-287.
1992
|
|
| 1992
|
Neurochemistry of Rett syndrome
1992
|
|
| 1992
|
Progressive hearing loss in infants with asymptomatic congenital cytomegalovirus infection.
Pediatrics.
90:862-866.
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.
Acta Neuropathologica.
82:152-157.
1991
|
|
| 1991
|
Phosphoglyceride biosynthesis in bovine adrenal chromaffin cells.
Neurochemical Research.
16:505-511.
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.
NMR in Biomedicine.
4:133-136.
1991
|
|
| 1991
|
Gangliosides in Human Fetal Brain.
Journal of Neurochemistry.
56:1763-1768.
1991
|
|
| 1991
|
Glycosphingolipid Glycosyltransferases in Human Fetal Brain.
Journal of Neurochemistry.
56:1461-1465.
1991
|
|
| 1991
|
Metabolic disease with central nervous system involvement.
Current Opinion in Pediatrics.
3:950-958.
1991
|
|
| 1990
|
A de novo X;3 translocation in Rett syndrome.
American Journal of Medical Genetics Part A.
35:148-151.
1990
|
|
| 1990
|
Asymptomatic Congenital Cytomegalovirus Infection: Audiologic, Neuroradiologic, and Neurodevelopmental Abnormalities During the First Year.
JAMA Pediatrics.
144:1365-1368.
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.
Journal of Neurochemistry.
55:1322-1326.
1990
|
|
| 1990
|
Extrapyramidal involvement in Rett’s syndrome.
Neurology.
40:293-295.
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.
Movement Disorders.
5:195-202.
1990
|
|
| 1990
|
Rett syndrome and the autistic disorders.
Neurologic Clinics.
8:659-676.
1990
|
|
| 1990
|
Rett syndrome: Cerebellar pathology.
Pediatric Neurology.
6:310-314.
1990
|
|
| 1990
|
The Rett syndrome program project at Baylor college of medicine
1990
|
|
| 1989
|
Cerebrospinal fluid biogenic amines and biopterin in rett syndrome.
Annals of Neurology.
25:56-60.
1989
|
|
| 1989
|
Chiari type I malformation in children.
Journal of Pediatrics.
115:573-576.
1989
|
|
| 1989
|
Neurometabolic disorders.
Current opinion in neurology and neurosurgery.
1:1037-1044.
1989
|
|
| 1989
|
Rett syndrome: Biogenic amines and metabolites in postmortem brain.
Pediatric Neurology.
5:357-362.
1989
|
|
| 1988
|
Diagnostic criteria for Rett syndrome. The Rett Syndrome Diagnostic Criteria Work Group..
Annals of Neurology.
23:425-428.
1988
|
|
| 1988
|
Neuropathology of Rett syndrome.
Acta Neuropathologica.
76:142-158.
1988
|
|
| 1988
|
Recommendations regarding handling of the necropsy in Rett syndrome.
Journal of Child Neurology.
3.
1988
|
|
| 1988
|
Research in Rett syndrome: Past, present, and future.
Journal of Child Neurology.
3.
1988
|
|
| 1988
|
Rett syndrome.
Current opinion in neurology and neurosurgery.
1:327-331.
1988
|
|
| 1988
|
Rett syndrome and autism: a comparative motor-behavioral analysis.
Journal of Child Neurology.
3:S65-S76.
1988
|
|
| 1988
|
Rett syndrome: Qualitative and quantitative differentiation from autism.
Journal of Child Neurology.
3.
1988
|
|
| 1987
|
The inherited neurodegenerative disorders of childhood: clinical assessment..
Journal of Child Neurology.
2:82-97.
1987
|
|
| 1987
|
Neurodiagnostic Studies in Krabbe's Disease.
Journal of Child Neurology.
2:71.
1987
|
|
| 1987
|
Rett syndrome: Discrimination of typical and variant forms
1987
|
|
| 1987
|
Rett's Syndrome: Correlation of Electroencephalographic Characteristics With Clinical Staging.
JAMA Neurology.
44:1053-1056.
1987
|
|
| 1987
|
Rett's syndrome: Characterization of respiratory patterns and sleep.
Annals of Neurology.
21:377-382.
1987
|
|
| 1987
|
The Leukodystrophies of Childhood; An Overview
1987
|
|
| 1986
|
Biogenic Amines in the Rett Syndrome.
New England Journal of Medicine.
314:784.
1986
|
|
| 1986
|
Acute management of seizures in children.
Nurse Practitioner.
11:15-28.
1986
|
|
| 1986
|
Krabbe disease: Specific MRI and CT findings.
Neurology.
36:111-115.
1986
|
|
| 1985
|
Reduction of Biogenic Amine Levels in the Rett Syndrome.
New England Journal of Medicine.
313:921-924.
1985
|
|
| 1985
|
Cerebellar hemorrhage in the term neonate: Developmental and neurologic outcome.
Pediatric Neurology.
1:356-360.
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.
Molecular cell biology research communications : MCBRC.
235:18-25.
1984
|
|
| 1984
|
Necrotizing fasciitis of the parapharyngeal space with carotid artery occlusion and acute hemiplegia.
Pediatrics.
73:343-347.
1984
|
|
| 1984
|
Control of phosphatidylethanolamine metabolism in yeast: Diacylglycerol ethanolaminephosphotransferase and diacylglycerol cholinephosphotransferase are separate enzymes.
Molecular cell biology research communications : MCBRC.
230:69-81.
1984
|
|
| 1983
|
Characterization of brain phosphatidylserine decarboxylase: Localization in the mitochondrial inner membrane.
Molecular cell biology research communications : MCBRC.
223:484-494.
1983
|
|
| 1982
|
Properties of Particulate and Detergent‐Solubilized Phospholipid N‐Methyltransferase Activity from Calf Brain.
Journal of Neurochemistry.
38:1404-1412.
1982
|
|
| 1982
|
The computed tomographic appearance of cerebral cysticercosis in adults and children.
Radiology.
144:819-823.
1982
|
|
| 1981
|
Successful conservative management of cerebellar hematomas in term neonates.
Journal of Pediatrics.
98:466-468.
1981
|
|
| 1981
|
The parenchymal form of cerebral cysticercosis.
Diagnostic imaging.
50:201-215.
1981
|
|
| 1980
|
Cerebral cysticercosis.
Pediatrics.
66:967-971.
1980
|
|
| 1980
|
Acute Isoniazid Poisoning in Childhood.
JAMA Pediatrics.
134:290-292.
1980
|
|
| 1980
|
Studies on choline and ethanolamine phosphoglyceride biosynthesis in developing rabbit brain.
Journal of Neuroscience Research.
5:431-438.
1980
|
|
| 1979
|
Inherited lipid storage diseases of the central nervous system.
Current Problems in Pediatric and Adolescent Health Care.
9:1-51.
1979
|
|
| 1979
|
Pediatric phencyclidine (PCP) abuse.
Pediatric Research.
13.
1979
|
|
| 1977
|
Metachromatic leukodystrophy: Comparison of early-and late-onset forms.
Neurology.
27:933-941.
1977
|
|
| 1975
|
Reduced deformability of erythrocyte membranes from patients with Duchenne muscular dystrophy.
Nature.
258:147-148.
1975
|
|
| 1973
|
Globoid cell (Krabbe's) leukodystrophy: heterozygote detection in cultured skin fibroblasts.
American Journal of Human Genetics.
25:604-609.
1973
|
|
| 1973
|
Antenatal Detection of the Sphingolipidoses.
New England Journal of Medicine.
288:1405-1406.
1973
|
|
| 1973
|
Gm-gangliosidosis type I: in utero detection and fetal manifestations..
Journal of Pediatrics.
82:1037-1041.
1973
|
|
| 1973
|
Phospholipid Biosynthesis in the Membranes of Immature and Mature Red Blood Cells.
Biochemistry.
12:2456-2461.
1973
|
|
| 1973
|
Confirmatory studies in the prenatal diagnosis of sphingolipidoses.
Pediatric Research.
7:812-817.
1973
|
|
| 1973
|
Ultrastructure Manifestations of GM1 and GM2 Gangliosidosis in Fetal Tissues.
JAMA Neurology.
28:417-419.
1973
|
|
| 1972
|
Cerebroside sulphate (sulphatide) sulphohydrolase: an improved assay method.
Journal of Neurochemistry.
19:233-236.
1972
|
|
| 1972
|
Neoplasms of the central nervous system: Epidemiologic considerations.
Neurology.
22:40-48.
1972
|
|
| 1972
|
Optic Neuritis and Multiple Sclerosis: An Epidemiologic Study.
JAMA Ophthalmology.
87:135-139.
1972
|
|
| 1971
|
Infantile and Adult-Onset Metachromatic Leukodystrophy: Biochemical Comparisons and Predictive Diagnosis.
New England Journal of Medicine.
285:785-787.
1971
|
|
| 1971
|
Failure of Isoprinosine in Amyotrophic Lateral Sclerosis.
New England Journal of Medicine.
285:689.
1971
|
|
| 1969
|
Juvenile dystonic lipidosis..
The Johns Hopkins medical journal.
125:62-77.
1969
|
|
| 1968
|
Multiple sclerosis in Rochester, Minnesota--a 60-year appraisal..
Transactions of the American Neurological Association.
93:264-265.
1968
|
|
| 1968
|
Metachromatic leukodystrophy: Diagnosis with samples of venous blood.
Science.
161:594-595.
1968
|
|
| 1968
|
Sulfite oxidase deficiency: Sulfate esters in tissues and urine.
Molecular Genetics and Metabolism.
2:198-208.
1968
|
|
| 1967
|
Peripheral nerve glycolipids in metachromatic leukodystrophy..
Neurology.
17:1033-1040.
1967
|
|
| 1967
|
Pyelography, cystography, neuromuscular blockade, and the titles of articles..
Pediatrics.
40:694-695.
1967
|
|
| 1967
|
An unusual complication of retrograde pyelography: neuromuscular blockade..
Pediatrics.
39:603-606.
1967
|
|
| 1964
|
SULFATE METABOLISM DURING MAMMALIAN DEVELOPMENT..
Pediatrics.
33:965-968.
1964
|
|
