Positions

Selected Publications

Academic Article

Year Title Altmetric
2018 The course of awake breathing disturbances across the lifespan in Rett syndrome.No to Hattatsu ==.  40:515-529. 2018
2018 Rett syndromeAnasthesiologie 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 Hearing Loss in Children With Asymptomatic Congenital Cytomegalovirus Infection.Pediatrics.  139. 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
2016 Longitudinal course of epilepsy in Rett syndrome and related disorders.Brain.  140:306-318. 2016
2016 From Function to Phenotype: Impaired DNA Binding and Clustering Correlates with Clinical Severity in Males with Missense Mutations in MECP2.Scientific Reports.  6:38590. 2016
2016 Progress in Rett Syndrome: from discovery to clinical trials.Wiener Medizinische Wochenschrift.  166:325-332. 2016
2016 Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2.Genetics in Medicine.  19:13-19. 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:e0146824. 2016
2016 Loss of MeCP2 Causes Urological Dysfunction and Contributes to Death by Kidney Failure in Mouse Models of Rett Syndrome.PLoS ONE.  11:e0165550. 2016
2015 Improving Treatment Trial Outcomes for Rett Syndrome: The Development of Rett-specific Anchors for the Clinical Global Impression Scale.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.  53:105-107. 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.  52:585-91.e2. 2015
2015 Treatment of cardiac arrhythmias in a mouse model of Rett syndrome with Na+-channel-blocking antiepileptic drugs.Disease Models & Mechanisms.  8:363-371. 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 Development of a genomic DNA reference material panel for Rett syndrome (MECP2-related disorders) genetic testing.Journal of Molecular Diagnostics.  16:273-279. 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 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 Developmental delay in Rett syndrome: data from the natural history study.Journal of Neurodevelopmental Disorders.  6:20. 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.  164:1346. 2014
2014 The American history of Rett syndrome.Pediatric Neurology.  50:1-3. 2014
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 Neuroscience. Path to treat Rett syndrome.Science.  342:318-320. 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.  161A:1638-1646. 2013
2013 Recent Progress in Rett Syndrome and MeCP2 Dysfunction: Assessment of Potential Treatment Options.Future Neurology.  8. 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 Hippocampal CA1 pyramidal neurons of Mecp2 mutant mice show a dendritic spine phenotype only in the presymptomatic stage.Neural Plasticity.  2012:976164. 2012
2011 Pathogenesis of lethal cardiac arrhythmias in Mecp2 mutant mice: implication for therapy in Rett syndrome.Science Translational Medicine.  3:113ra125. 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 Rett syndrome: exploring the autism link.Archives of Neurology -Chigago-.  68:985-989. 2011
2011 Experimental models of Rett syndrome based on Mecp2 dysfunction.Proceedings of the Society for 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 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.  156:135-138.e1. 2010
2009 Loss of MeCP2 in aminergic neurons causes cell-autonomous defects in neurotransmitter synthesis and specific behavioral abnormalities.Proceedings of the National Academy of Sciences.  106:21966-21971. 2009
2009 Variable phenotypic expression of a MECP2 mutation in a family.Journal of Neurodevelopmental Disorders.  1:313. 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 disorderResearch 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
2008 Rett syndrome: From recognition to diagnosis to interventionExpert Review of Endocrinology and Metabolism.  3:327-336. 2008
2008 Rett syndrome: recent research progress.Journal of Child Neurology.  23:543-549. 2008
2008 Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome.Neurology.  70:1313-1321. 2008
2008 Investigating genotype-phenotype relationships in Rett syndrome using an international data set.Neurology.  70:868-875. 2008
2007 Rett syndrome: North American database.Journal of Child Neurology.  22:1338-1341. 2007
2007 Rett syndrome deserves your attentionFuture Neurology.  2:233-236. 2007
2007 Nothing out of sequence?: think deletion!Neurology.  68:975-976. 2007
2006 Deep sedation with propofol in patients with Rett syndrome.Journal of Child Neurology.  21:857-860. 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 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
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 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:e15. 2005
2005 Board certification in child neurology and neurology: cohort study.Journal of Child Neurology.  20:25-27. 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.  126A:129-140. 2004
2004 Child neurology training via the research pathway: outcome study.Journal of Child Neurology.  19:142-144. 2004
2004 NoticeJournal of Child Neurology.  19:78. 2004
2003 Eating difficulties in girls with Rett syndrome compared with other developmental disabilities.Journal of The American Dietetic Association.  103:224-230. 2003
2003 Certification in neurodevelopmental disabilities: the development of a new subspecialty and results of the initial examinations.Mental Retardation and Developmental Disabilities Research Reviews.  9:128-131. 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 Mutations in TITF-1 are associated with benign hereditary chorea.Human Molecular Genetics.  11:971-979. 2002
2002 Clinical trials and treatment prospects.Mental Retardation and Developmental Disabilities Research Reviews.  8:106-111. 2002
2001 Rett syndrome: clinical correlates of the newly discovered gene.No to Hattatsu ==.  23 Suppl 1:S202-S205. 2001
2001 Neuropathology of occipital horn syndrome.Journal of Child Neurology.  16:764-766. 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 Adrenoleukodystrophy and related disorders.Mental Retardation and Developmental Disabilities Research Reviews.  7:179-189. 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 D(1)-type dopamine receptors.Brain Research.  869:85-97. 2000
2000 Decreased cerebrospinal fluid levels of beta-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
1999 Eliminating institutional child abuse: a road too well traveled.Neurology.  53:1617-1621. 1999
1999 Rett syndrome: 1H spectroscopic imaging at 4.1 Tesla.Journal of Child Neurology.  14:524-528. 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
1998 Rett syndrome: Clinical experience in AlabamaRivista Medica.  4:207-210. 1998
1998 Age-related changes in the level of urinary myelin basic protein-like material during childhood.Neurology.  51:1339-1341. 1998
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 C-fos mediates cocaine inhibition of NGF-induced PC12 cell differentiation.Molecular Genetics and Metabolism.  64:62-69. 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
1998 Hand and foot growth failure in Rett syndrome.Journal of Child Neurology.  13:71-74. 1998
1997 Decreased cerebrospinal fluid levels of substance P in patients with Rett syndrome.Annals of Neurology.  42:978-981. 1997
1997 In vitro copper stimulation of plasma peptidylglycine alpha-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 Bobble-head doll syndrome: report of a case and review of the literature.Movement Disorders.  12:810-814. 1997
1997 Linking molecular biology to clinical advances in developmental neurology.Current Opinion in Neurology.  10:129-130. 1997
1997 Neurobiology and neurochemistry of Rett syndrome.European Child and Adolescent Psychiatry.  6 Suppl 1:80-82. 1997
1996 Distinctive Menkes disease variant with occipital horns: Delineation of natural history and clinical phenotypeAmerican Journal of Medical Genetics.  65:44-51. 1996
1996 Distinctive Menkes disease variant with occipital horns: delineation of natural history and clinical phenotype.American Journal of Medical Genetics.  65:44-51. 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 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 Rett syndrome: The evolving picture of a disorder of brain developmentDevelopmental 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 Molecular and neurobiology aspects of Rett syndrome.Neuropadiatrie.  26:60-61. 1995
1995 Rett syndrome.Current Opinion in Neurology.  8:156-160. 1995
1995 Concluding remarksNeuropadiatrie.  26:128. 1995
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 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 Choline deficiency in cultured adrenal medullary cells: effect on phosphatidylcholine biosynthesis.Biochemical medicine and metabolic biology.  51:169-174. 1994
1994 Rett syndrome: controlled study of an oral opiate antagonist, naltrexone.Annals of Neurology.  35:464-470. 1994
1994 Abnormal carbohydrate metabolism in cerebrospinal fluid in Rett syndrome.Journal of Child Neurology.  9:26-30. 1994
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
1993 The pattern of growth failure in Rett syndrome.American journal of diseases of children (1960).  147:633-637. 1993
1993 Epidemiology of Rett syndrome: a population-based registry.Pediatrics.  91:445-450. 1993
1993 Meeting report: Second International Rett Syndrome Workshop and Symposium.Journal of Child Neurology.  8:97-100. 1993
1992 Progressive hearing loss in infants with asymptomatic congenital cytomegalovirus infection.Pediatrics.  90:862-866. 1992
1992 Neurochemistry of the Rett syndrome.No to Hattatsu ==.  14 Suppl:S57-S62. 1992
1992 The Rett Syndrome: the recent advances in genetic studies in the USA.No to Hattatsu ==.  14 Suppl:S104-S105. 1992
1992 Tokyo symposium on the Rett syndrome: neurobiological approach--concluding remarks and epilogue.No to Hattatsu ==.  14 Suppl:S151-S153. 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 Childhood metabolic disease with central nervous system involvementCurrent Opinion in Pediatrics.  4:940-948. 1992
1992 Neurochemistry of Rett syndromeBrain Dev.  14:S57-S62. 1992
1991 The fatty acid composition of placenta in intrauterine growth retardation.BBA - Biochimica et Biophysica Acta.  1084:173-177. 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 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.BBA - Biochimica et Biophysica Acta.  1081:253-261. 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 Metabolic disease with central nervous system involvementCurrent Opinion in Pediatrics.  3:950-958. 1991
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 Determination of gangliosides in six human primary medulloblastomas.Journal of Neurochemistry.  55:1322-1326. 1990
1990 Rett syndrome: cerebellar pathology.Pediatric Neurology.  6:310-314. 1990
1990 Rett syndrome and the autistic disorders.Neurologic Clinics.  8:659-676. 1990
1990 Clinical and biochemical outcome of marrow transplantation for Gaucher disease of the Norrbottnian type.Acta Paediatrica Scandinavica.  79:680-685. 1990
1990 Rapidly progressive type III Gaucher disease: deterioration following partial splenectomy.Acta Paediatrica Scandinavica.  79:448-453. 1990
1990 CSF and urine biogenic amine metabolites in Rett syndrome.Clinical Genetics.  37:173-178. 1990
1990 Extrapyramidal involvement in Rett's syndrome.Neurology.  40:293-295. 1990
1990 A de novo X;3 translocation in Rett syndrome.American Journal of Medical Genetics.  35:148-151. 1990
1990 Patterns of X chromosome inactivation in the Rett syndrome.No to Hattatsu ==.  12:131-135. 1990
1990 PrefaceNo to Hattatsu ==.  12:1. 1990
1990 Rett syndrome and associated movement disorders.Movement Disorders.  5:195-202. 1990
1990 The Rett syndrome program project at Baylor College of Medicine.No to Hattatsu ==.  12:8-10. 1990
1990 The proceedings of the 5th International Conference on the Rett Syndrome. Vienna, November 4-7, 1988. Dedicated to Professor Andreas Rett.No to Hattatsu ==.  12:1-183. 1990
1989 Rett syndrome: biogenic amines and metabolites in postmortem brain.Pediatric Neurology.  5:357-362. 1989
1989 Chiari type I malformation in children.Journal of Pediatrics.  115:573-576. 1989
1989 Cerebrospinal fluid biogenic amines and biopterin in Rett syndrome.Annals of Neurology.  25:56-60. 1989
1989 Neurometabolic disordersCurrent 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 Suppl:S91-S93. 1988
1988 Research in Rett syndrome: past, present, and future.Journal of Child Neurology.  3 Suppl:S72-S75. 1988
1988 Rett syndromeCurrent opinion in neurology and neurosurgery.  1:327-331. 1988
1988 Rett syndrome: qualitative and quantitative differentiation from autism.Journal of Child Neurology.  3 Suppl:S65-S67. 1988
1987 Rett's syndrome. Correlation of electroencephalographic characteristics with clinical staging.Archives of Neurology -Chigago-.  44:1053-1056. 1987
1987 Rett's syndrome: characterization of respiratory patterns and sleep.Annals of Neurology.  21:377-382. 1987
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.No to Hattatsu ==.  9:458-461. 1987
1987 Review Article: The Inherited Neurodegenerative Disorders of Childhood: Clinical AssessmentJournal of Child Neurology.  2:82-97. 1987
1986 Biogenic amines in the Rett syndrome.New England Journal of Medicine.  314:784. 1986
1986 Krabbe disease: specific MRI and CT findings.Neurology.  36:111-115. 1986
1985 Cerebellar hemorrhage in the term neonate: developmental and neurologic outcome.Pediatric Neurology.  1:356-360. 1985
1985 Reduction of biogenic amine levels in the Rett syndrome.New England Journal of Medicine.  313:921-924. 1985
1985 Rett syndrome: initial experience with an emerging clinical entity.No to Hattatsu ==.  7:300-304. 1985
1984 Phosphoglyceride biosynthesis by brain microsomes: centrophenoxine, SaH-42-348, 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
1984 Necrotizing fasciitis of the parapharyngeal space with carotid artery occlusion and acute hemiplegia.Pediatrics.  73:343-347. 1984
1983 Characterization of brain phosphatidylserine decarboxylase: localization in the mitochondrial inner membrane.Archives of Biochemistry and Biophysics.  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
1981 Successful conservative management of cerebellar hematomas in term neonates.Journal of Pediatrics.  98:466-468. 1981
1973 Gm-gangliosidosis type I: in utero detection and fetal manifestations.Journal of Pediatrics.  82:1037-1041. 1973
1972 Optic neuritis and multiple sclerosis. An epidemiologic study.Archives of Ophthalmology -New Series-.  87:135-139. 1972
1972 Neoplasms of the central nervous system. Epidemiologic considerations.Neurology.  22:40-48. 1972
1971 Multiple sclerosis in Rochester, Minn. A 60-year appraisal.Archives of Neurology -Chigago-.  25:105-111. 1971
1970 Neoplasms of the central nervous system: epidemiologic considerations.Neurology.  20:398-399. 1970
1968 Multiple sclerosis in Rochester, Minnesota--a 60-year appraisal.Transactions of the American Neurological Association.  93:264-265. 1968

Chapter

Year Title Altmetric
2016 Rett Syndrome: Clinical Aspects.  301-324. 2016
2016 Rett syndrome: Seeing the way forward.  765-777. 2016
2014 Peripheral Neuropathy in Inherited Metabolic Disease.  353-378. 2014
2014 Dysfunction of the methyl-CpG-binding protein MeCP2 in rett syndrome.  43-69. 2014
2014 Adrenoleukodystrophy.  65-66. 2014
2014 Metachromatic Leukodystrophy (Sulfatide Lipidosis).  1108-1110. 2014
2014 Respiratory Chain Disorders.  17-21. 2014
2014 Rett's Syndrome.  29-33. 2014
2014 Rhabdomyolysis and Myoglobinuria.  44-46. 2014

Education And Training

  • Doctor of Medicine, Stanford University
  • Full Name

  • Alan Percy
  • Blazerid

  • apercy