| Year |
Title |
Altmetric |
| 2020
|
Metabolic Signatures Differentiate Rett Syndrome From Unaffected Siblings.
Frontiers in Integrative Neuroscience.
14.
2020
|
|
| 2018
|
The course of awake breathing disturbances across the lifespan in Rett syndrome
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
|
Assessment of Caregiver Inventory for Rett Syndrome.
Journal of Autism and Developmental Disorders.
47:1102-1112.
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
|
|
| 2015
|
Treatment of cardiac arrhythmias in a mouse model of Rett syndrome with Na+-channel-blocking antiepileptic drugs
2015
|
|
| 2015
|
Improving Treatment Trial Outcomes for Rett Syndrome.
Journal of Child Neurology.
30:1743-1748.
2015
|
|
| 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
|
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
|
|
| 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..
Current Clinical Pharmacology.
8:358-369.
2013
|
|
| 2013
|
Recent progress in Rett syndrome and MECP2 dysfunction: Assessment of potential treatment options.
Future Neurology.
8:21-28.
2013
|
|
| 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
|
|
| 2011
|
Rett Syndrome: Exploring the autism link.
Archives of Neurology.
68:985-989.
2011
|
|
| 2011
|
Experimental models of rett syndrome based on Mecp2 dysfunction
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
|
|
| 2009
|
A study of the treatment of rett syndrome with folate and betaine.
Journal of Child Neurology.
24:551-556.
2009
|
|
| 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
|
|
| 2007
|
Rett syndrome: North American database.
Journal of Child Neurology.
22:1338-1341.
2007
|
|
| 2007
|
Rett syndrome deserves your attention.
Future Neurology.
2:233-236.
2007
|
|
| 2006
|
Deep sedation with propofol in patients with Rett syndrome.
Journal of Child Neurology.
21:857-860.
2006
|
|
| 2006
|
Deep sedation with propofol in patients with Rett syndrome.
Journal of Child Neurology.
21:210-213.
2006
|
|
| 2005
|
Certification in child neurology: New directions for the twenty-first century.
Journal of Child Neurology.
20:644-647.
2005
|
|
| 2005
|
Board certification in child neurology and neurology: Cohort study.
Journal of Child Neurology.
20:25-27.
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
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
|
|
| 2002
|
Mutations in TITF-1 are associated with benign hereditary chorea.
Human Molecular Genetics.
11:971-979.
2002
|
|
| 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
|
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
|
|
| 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
|
Cocaine-inhibited neuronal differentiation in NGF-induced PC12 cells and altered C-fos expression are reversed by C-fos antisense oligonucleotide.
Annals of the New York Academy of Sciences.
846:427-430.
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
|
|
| 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
|
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
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.
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.
Biochemical and molecular medicine.
59:38-43.
1996
|
|
| 1996
|
Rett syndrome: The evolving picture of a disorder of brain development.
Developmental Brain Dysfunction.
9:180-186.
1996
|
|
| 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
|
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.
Biochemical medicine and metabolic biology.
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
|
Rett syndrome: Controlled study of an oral opiate antagonist, naltrexone.
Annals of Neurology.
35:464-470.
1994
|
|
| 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.
American journal of diseases of children (1911).
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.
Brain Dev.
14:S57-S62.
1992
|
|
| 1992
|
Neurochemistry of the Rett syndrome
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.
BBA - Lipids and Lipid Metabolism.
1084:173-177.
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
|
Glycolipids and glycosyltransferases in permanent cell lines established from human medulloblastomas.
BBA - Lipids and Lipid Metabolism.
1081:253-261.
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
1990
|
|
| 1990
|
Asymptomatic Congenital Cytomegalovirus Infection: Audiologic, Neuroradiologic, and Neurodevelopmental Abnormalities During the First Year.
American journal of diseases of children (1960).
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.
Acta Paediatrica Scandinavica.
79:680-685.
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..
Acta Paediatrica Scandinavica.
79:448-453.
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.
Annals of Neurology.
25:56-60.
1989
|
|
| 1989
|
Neurometabolic disorders.
Current opinion in neurology and neurosurgery.
1:1037-1044.
1989
|
|
| 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: 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.
Archives of Neurology.
44:1053-1056.
1987
|
|
| 1987
|
Rett's syndrome: Characterization of respiratory patterns and sleep.
Annals of Neurology.
21:377-382.
1987
|
|
| 1987
|
Review Article: The Inherited Neurodegenerative Disorders of Childhood: Clinical Assessment.
Journal of Child Neurology.
2:82-97.
1987
|
|
| 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.
Archives of Biochemistry and Biophysics.
235:18-25.
1984
|
|
| 1984
|
Control of phosphatidylethanolamine metabolism in yeast: Diacylglycerol ethanolaminephosphotransferase and diacylglycerol cholinephosphotransferase are separate enzymes.
Archives of Biochemistry and Biophysics.
230:69-81.
1984
|
|
| 1983
|
Characterization of brain phosphatidylserine decarboxylase: Localization in the mitochondrial inner membrane.
Archives of Biochemistry and Biophysics.
223:484-494.
1983
|
|
| 1972
|
Optic Neuritis and Multiple Sclerosis: An Epidemiologic Study.
JAMA Ophthalmology.
87:135-139.
1972
|
|
| 1971
|
Multiple Sclerosis in Rochester, Minn: A 60-Year Appraisal.
Archives of Neurology.
25:105-111.
1971
|
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