Selected Publications

Academic Article

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 SyndromeJournal of Pediatrics.  244:169-177.e3. 2022
2022 Design and outcome measures of LAVENDER, a phase 3 study of trofinetide for Rett syndromeContemporary Clinical Trials.  114. 2022
2021 Microbial community changes in a female rat model of Rett syndromeProgress in Neuro-Psychopharmacology and Biological Psychiatry.  109. 2021
2021 Multisite Study of Evoked Potentials in Rett SyndromeAnnals of Neurology.  89:790-802. 2021
2021 Phenotypic features in MECP2 duplication syndrome: Effects of ageAmerican 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 TrialsAmerican Journal on Intellectual and Developmental Disabilities.  125:493-509. 2020
2020 Comparison of Core Features in Four Developmental Encephalopathies in the Rett Natural History StudyAnnals of Neurology.  88:396-406. 2020
2020 Metabolic Signatures Differentiate Rett Syndrome From Unaffected SiblingsFrontiers in Integrative Neuroscience.  14. 2020
2020 Rett syndrome: Novel correlations linking >96% genotype, disease severity, and seizures 2020
2019 Severity Assessment in CDKL5 Deficiency DisorderPediatric Neurology.  97:38-42. 2019
2019 Biliary Tract Disease in Girls and Young Women with Rett SyndromeJournal of Pediatric Gastroenterology and Nutrition.  68:799-805. 2019
2019 Hand stereotypies: Lessons from the Rett Syndrome Natural History StudyNeurology.  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 syndromeNeurology.  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 2American 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 syndromeAnasthesiologie und Intensivmedizin.  59:S117-S124. 2018
2018 MeCP2 deficiency leads to loss of glial Kir4.1eNeuro.  5. 2018
2017 A Double-Blind, Randomized, Placebo-Controlled Clinical Study of Trofinetide in the Treatment of Rett SyndromePediatric Neurology.  76:37-46. 2017
2017 Long-term outcomes of children with symptomatic congenital cytomegalovirus diseaseJournal of Perinatology.  37:875-880. 2017
2017 Scoliosis in Rett Syndrome: Progression, Comorbidities, and PredictorsPediatric Neurology.  70:20-25. 2017
2017 Assessment of Caregiver Inventory for Rett SyndromeJournal of Autism and Developmental Disorders.  47:1102-1112. 2017
2017 Hearing loss in children with asymptomatic congenital cytomegalovirus infectionPediatrics.  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 MECP2Genetics 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 MECP2Scientific Reports.  6. 2016
2016 Loss of MeCP2 causes urological dysfunction and contributes to death by kidney failure in mouse models of rett syndromePLoS One.  11. 2016
2016 Progress in Rett Syndrome: from discovery to clinical trialsWiener 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 PredictorsPediatric Neurology.  58:67-74. 2016
2016 Clinical guidelines for management of bone health in rett syndrome based on expert consensus and available evidencePLoS One.  11. 2016
2016 Clinical-genetic associations in the Prospective Huntington at Risk Observational Study (PHAROS) implications for clinical trialsJAMA Neurology.  73:102-110. 2016
2015 Improving Treatment Trial Outcomes for Rett SyndromeJournal of Child Neurology.  30:1743-1748. 2015
2015 The Changing Face of Survival in Rett Syndrome and MECP2-Related DisordersPediatric Neurology.  53:402-411. 2015
2015 In Memoriam: Bengt Arthur Hagberg, MD, PhD August 9, 1923-April 12, 2015Pediatric Neurology.  53. 2015
2015 Rett Syndrome: Reaching for Clinical TrialsNeurotherapeutics.  12:631-640. 2015
2015 Age of diagnosis in rett syndrome: Patterns of recognition among diagnosticians and risk factors for late diagnosisPediatric Neurology.  52:585-591.e2. 2015
2015 Treatment of cardiac arrhythmias in a mouse model of Rett syndrome with Na+-channel-blocking antiepileptic drugsDisease 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 femalesPediatric 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, AlabamaEnvironment International.  73:216-223. 2014
2014 Predictors of serum polychlorinated biphenyl concentrations in Anniston residentsScience of the Total Environment.  496:624-634. 2014
2014 Developmental delay in Rett syndrome: Data from the natural history studyJournal 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 SurveyScience of the Total Environment.  473-474:286-297. 2014
2014 Gastrointestinal dysmotility in rett syndromeJournal 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 syndromeJournal 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 syndromePediatric 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 syndromeJournal 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 syndromeAmerican 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 syndromeScience.  342:318-320. 2013
2013 Recent progress in Rett syndrome and MECP2 dysfunction: Assessment of potential treatment optionsFuture Neurology.  8:21-28. 2013
2012 Growth failure and outcome in Rett syndrome: Specific growth referencesNeurology.  79:1653-1661. 2012
2012 Gastrointestinal and nutritional problems occur frequently throughout life in girls and women with rett syndromeJournal of Pediatric Gastroenterology and Nutrition.  55:292-298. 2012
2012 The phenotype associated with a large deletion on MECP2European Journal of Human Genetics.  20:921-927. 2012
2012 Splice site, frameshift, and chimeric GFAP mutations in Alexander diseaseHuman 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 stageNeural Plasticity.  2012. 2012
2011 Rett syndrome: Pathogenesis of lethal cardiac arrhythmias in Mecp2 mutant mice: Implication for therapy in Rett syndromeScience Translational Medicine.  3. 2011
2011 Clinical severity and quality of life in children and adolescents with Rett syndromeNeurology.  77:1812-1818. 2011
2011 Vitamin D deficiency is prevalent in girls and women with rett syndromeJournal of Pediatric Gastroenterology and Nutrition.  53:569-574. 2011
2011 Rett Syndrome: Exploring the autism linkJAMA 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 dysfunctionExperimental Biology and Medicine.  236:3-19. 2011
2010 Rett syndrome diagnostic criteria: Lessons from the Natural History StudyAnnals of Neurology.  68:951-955. 2010
2010 Rett syndrome: Revised diagnostic criteria and nomenclatureAnnals 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 syndromePediatric Research.  67:435-439. 2010
2010 Updating the profile of C-terminal MECP2 deletions in Rett syndromeJournal of Medical Genetics.  47:242-248. 2010
2010 Epilepsy and the natural history of Rett syndromeNeurology.  74:909-912. 2010
2010 Longevity in Rett Syndrome: Analysis of the North American DatabaseJournal 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 mutationsNeurobiology 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 betaineJournal of Child Neurology.  24:551-556. 2009
2009 Bdnf overexpression in hippocampal neurons prevents dendritic atrophy caused by Rett-associated MECP2 mutationsNeurobiology 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 excitabilityJournal of Neuroendocrinology.  21:108-122. 2009
2009 Rare Disease clinical research networkMolecular Genetics and Metabolism.  96:20-26. 2009
2009 Variable phenotypic expression of a MECP2 mutation in a familyJournal 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 interventionExpert Review of Endocrinology and Metabolism.  3:327-336. 2008
2008 Rett syndrome: Recent research progressJournal of Child Neurology.  23:543-549. 2008
2008 Investigating genotype-phenotype relationships in Rett syndrome using an international data setNeurology.  70:868-875. 2008
2008 Specific mutations in Methyl-CpG-Binding Protein 2 confer different severity in Rett syndromeNeurology.  70:1313-1321. 2008
2007 Rett syndrome: North American databaseJournal of Child Neurology.  22:1338-1341. 2007
2007 Predictors of diagnosis in Huntington diseaseNeurology.  68:1710-1717. 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 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 mutationsNeurology.  67:164-166. 2006
2006 Deep sedation with propofol in patients with Rett syndromeJournal 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 centuryJournal of Child Neurology.  20:644-647. 2005
2005 Spinal fluid 5-methyltetrahydrofolate levels are normal in Rett syndromeNeurology.  64:2151-2152. 2005
2005 Board certification in child neurology and neurology: Cohort studyJournal of Child Neurology.  20:25-27. 2005
2005 Interrater agreement in the assessment of motor manifestations of Huntington's diseaseMovement 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 disordersJournal of Child Neurology.  20:718-721. 2005
2005 Rett syndrome: Pathogenesis, diagnosis, strategies, therapies, and future research directionsJournal of Child Neurology.  20:708-717. 2005
2004 Rett syndrome: Clinical and molecular updateCurrent Opinion in Pediatrics.  16:670-677. 2004
2004 Phenotypic Manifestations of MECP2 Mutations in Classical and Atypical Rett SyndromeAmerican Journal of Medical Genetics Part A.  126 A:129-140. 2004
2004 Child neurology training via the research pathway: Outcome studyJournal of Child Neurology.  19:142-144. 2004
2004 NoticeJournal of Child Neurology.  19:78. 2004
2003 Certification in neurodevelopmental disabilities: The development of a new subspecialty and results of the initial examinationsDevelopmental Disabilities Research Reviews.  9:128-131. 2003
2003 Eating difficulties in girls with Rett syndrome compared with other developmental disabilitiesJournal of the Academy of Nutrition and Dietetics.  103:224-230. 2003
2002 Rett syndrome: Current status and new vistasNeurologic Clinics.  20:1125-1141. 2002
2002 Clinical and genetic heterogeneity in benign hereditary choreaNeurology.  59:579-584. 2002
2002 Clinical trials and treatment prospectsDevelopmental Disabilities Research Reviews.  8:106-111. 2002
2002 Mutations in TITF-1 are associated with benign hereditary choreaHuman Molecular Genetics.  11:971-979. 2002
2001 Adrenoleukodystrophy and related disordersDevelopmental Disabilities Research Reviews.  7:179-189. 2001
2001 Chromosome 22q and the mind-brain interface: Bedside to bench to bedsideNeurology.  57:377-378. 2001
2001 Distal infantile neuroaxonal dystrophy - A new familial variant with perineuronal argyrophilic bodiesActa Neuropathologica.  102:83-88. 2001
2001 Neuropathology of occipital horn syndromeJournal 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 signalingInternational Journal of Developmental Neuroscience.  18:765-772. 2000
2000 Genetics of Rett syndrome: Properties of the newly discovered gene and pathobiology of the disorderCurrent Opinion in Pediatrics.  12:589-595. 2000
2000 Pelizaeus-Merzbacher disease: Splice sites are nice sites for disease expressionNeurology.  55:1072-1073. 2000
2000 Cocaine inhibits NGF-induced PC12 cells differentiation through D1-type dopamine receptorsBrain Research.  869:85-97. 2000
2000 Decreased cerebrospinal fluid levels of β-phenylethylamine in patients with Rett syndromeAnnals of Neurology.  47:801-803. 2000
2000 Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypesAnnals of Neurology.  47:670-679. 2000
2000 Enlarged parietal foramina: Association with cerebral venous and cortical anomaliesNeurology.  54:1175-1178. 2000
2000 Topics in Pediatrics 2000
1999 Eliminating institutional child abuse: A road too well traveledNeurology.  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 TeslaJournal of Child Neurology.  14:524-528. 1999
1998 Rett syndrome: Clinical experience in AlabamaRivista 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 childhoodNeurology.  51:1339-1341. 1998
1998 C-fos mediates cocaine inhibition of NGF-induced PC12 cell differentiationMolecular Genetics and Metabolism.  64:62-69. 1998
1998 Hand and foot growth failure in Rett syndromeJournal of Child Neurology.  13:71-74. 1998
1998 Neonatal encephalopathy in two boys in families with recurrent Rett syndromeJournal of Child Neurology.  13:229-231. 1998
1998 The genetic basis of Rett syndrome: Candidate gene considerationsMolecular Genetics and Metabolism.  64:1-6. 1998
1997 Decreased cerebrospinal fluid levels of substance P in patients with Rett syndromeAnnals 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 hornsPediatric 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 neurologyCurrent Opinion in Neurology.  10:129-130. 1997
1996 Distinctive Menkes disease variant with occipital horns: Delineation of natural history and clinical phenotypeAmerican 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 periodBrain Research.  729:270-272. 1996
1996 Opportunities and challenges in academic neurology: Report of the long range planning committee of the American Neurological AssociationAnnals 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 samplesMolecular Genetics and Metabolism.  59:38-43. 1996
1996 Rett syndrome: The evolving picture of a disorder of brain developmentDevelopmental 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 disordersJournal of Clinical Epidemiology.  48:1069-1076. 1995
1995 Rett syndromeCurrent 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 imagingActa Neuropathologica.  88:26-32. 1994
1994 Choline Deficiency in Cultured Adrenal Medullary Cells: Effect on Phosphatidylcholine BiosynthesisMolecular Genetics and Metabolism.  51:169-174. 1994
1994 Abnormal carbohydrate metabolism in cerebrospinal fluid in Rett syndromeJournal of Child Neurology.  9:26-30. 1994
1994 Altered Energy Balance May Account for Growth Failure in Rett SyndromeJournal 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 locusNature Genetics.  8:195-202. 1994
1994 Rett syndrome: Controlled study of an oral opiate antagonist, naltrexoneAnnals of Neurology.  35:464-470. 1994
1993 Epidemiology of Rett syndrome: A population-based registryPediatrics.  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 SyndromeJAMA Pediatrics.  147:633-637. 1993
1992 Childhood metabolic disease with central nervous system involvementCurrent 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 analysisAmerican Journal of Human Genetics.  50:278-287. 1992
1992 Neurochemistry of Rett syndrome 1992
1992 Progressive hearing loss in infants with asymptomatic congenital cytomegalovirus infectionPediatrics.  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 findingsActa Neuropathologica.  82:152-157. 1991
1991 Phosphoglyceride biosynthesis in bovine adrenal chromaffin cellsNeurochemical 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 cellsNMR in Biomedicine.  4:133-136. 1991
1991 Gangliosides in Human Fetal BrainJournal of Neurochemistry.  56:1763-1768. 1991
1991 Glycosphingolipid Glycosyltransferases in Human Fetal BrainJournal of Neurochemistry.  56:1461-1465. 1991
1991 Metabolic disease with central nervous system involvementCurrent Opinion in Pediatrics.  3:950-958. 1991
1990 A de novo X;3 translocation in Rett syndromeAmerican Journal of Medical Genetics Part A.  35:148-151. 1990
1990 Asymptomatic Congenital Cytomegalovirus Infection: Audiologic, Neuroradiologic, and Neurodevelopmental Abnormalities During the First YearJAMA 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 MedulloblastomasJournal of Neurochemistry.  55:1322-1326. 1990
1990 Extrapyramidal involvement in Rett’s syndromeNeurology.  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 disordersMovement Disorders.  5:195-202. 1990
1990 Rett syndrome and the autistic disordersNeurologic Clinics.  8:659-676. 1990
1990 Rett syndrome: Cerebellar pathologyPediatric 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 syndromeAnnals of Neurology.  25:56-60. 1989
1989 Chiari type I malformation in childrenJournal of Pediatrics.  115:573-576. 1989
1989 Neurometabolic disordersCurrent opinion in neurology and neurosurgery.  1:1037-1044. 1989
1989 Rett syndrome: Biogenic amines and metabolites in postmortem brainPediatric 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 syndromeActa Neuropathologica.  76:142-158. 1988
1988 Recommendations regarding handling of the necropsy in Rett syndromeJournal of Child Neurology.  3. 1988
1988 Research in Rett syndrome: Past, present, and futureJournal of Child Neurology.  3. 1988
1988 Rett syndromeCurrent opinion in neurology and neurosurgery.  1:327-331. 1988
1988 Rett syndrome and autism: a comparative motor-behavioral analysisJournal of Child Neurology.  3:S65-S76. 1988
1988 Rett syndrome: Qualitative and quantitative differentiation from autismJournal 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 DiseaseJournal 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 StagingJAMA Neurology.  44:1053-1056. 1987
1987 Rett's syndrome: Characterization of respiratory patterns and sleepAnnals of Neurology.  21:377-382. 1987
1987 The Leukodystrophies of Childhood; An Overview 1987
1986 Biogenic Amines in the Rett SyndromeNew England Journal of Medicine.  314:784. 1986
1986 Acute management of seizures in childrenNurse Practitioner.  11:15-28. 1986
1986 Krabbe disease: Specific MRI and CT findingsNeurology.  36:111-115. 1986
1985 Reduction of Biogenic Amine Levels in the Rett SyndromeNew England Journal of Medicine.  313:921-924. 1985
1985 Cerebellar hemorrhage in the term neonate: Developmental and neurologic outcomePediatric 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-methylationMolecular cell biology research communications : MCBRC.  235:18-25. 1984
1984 Necrotizing fasciitis of the parapharyngeal space with carotid artery occlusion and acute hemiplegiaPediatrics.  73:343-347. 1984
1984 Control of phosphatidylethanolamine metabolism in yeast: Diacylglycerol ethanolaminephosphotransferase and diacylglycerol cholinephosphotransferase are separate enzymesMolecular cell biology research communications : MCBRC.  230:69-81. 1984
1983 Characterization of brain phosphatidylserine decarboxylase: Localization in the mitochondrial inner membraneMolecular cell biology research communications : MCBRC.  223:484-494. 1983
1982 Properties of Particulate and Detergent‐Solubilized Phospholipid N‐Methyltransferase Activity from Calf BrainJournal of Neurochemistry.  38:1404-1412. 1982
1982 The computed tomographic appearance of cerebral cysticercosis in adults and childrenRadiology.  144:819-823. 1982
1981 Successful conservative management of cerebellar hematomas in term neonatesJournal of Pediatrics.  98:466-468. 1981
1981 The parenchymal form of cerebral cysticercosisDiagnostic imaging.  50:201-215. 1981
1980 Cerebral cysticercosisPediatrics.  66:967-971. 1980
1980 Acute Isoniazid Poisoning in ChildhoodJAMA Pediatrics.  134:290-292. 1980
1980 Studies on choline and ethanolamine phosphoglyceride biosynthesis in developing rabbit brainJournal of Neuroscience Research.  5:431-438. 1980
1979 Inherited lipid storage diseases of the central nervous systemCurrent Problems in Pediatric and Adolescent Health Care.  9:1-51. 1979
1979 Pediatric phencyclidine (PCP) abusePediatric Research.  13. 1979
1977 Metachromatic leukodystrophy: Comparison of early-and late-onset formsNeurology.  27:933-941. 1977
1975 Reduced deformability of erythrocyte membranes from patients with Duchenne muscular dystrophyNature.  258:147-148. 1975
1973 Globoid cell (Krabbe's) leukodystrophy: heterozygote detection in cultured skin fibroblastsAmerican Journal of Human Genetics.  25:604-609. 1973
1973 Antenatal Detection of the SphingolipidosesNew 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 CellsBiochemistry.  12:2456-2461. 1973
1973 Confirmatory studies in the prenatal diagnosis of sphingolipidosesPediatric Research.  7:812-817. 1973
1973 Ultrastructure Manifestations of GM1 and GM2 Gangliosidosis in Fetal TissuesJAMA Neurology.  28:417-419. 1973
1972 Cerebroside sulphate (sulphatide) sulphohydrolase: an improved assay methodJournal of Neurochemistry.  19:233-236. 1972
1972 Neoplasms of the central nervous system: Epidemiologic considerationsNeurology.  22:40-48. 1972
1972 Optic Neuritis and Multiple Sclerosis: An Epidemiologic StudyJAMA Ophthalmology.  87:135-139. 1972
1971 Infantile and Adult-Onset Metachromatic Leukodystrophy: Biochemical Comparisons and Predictive DiagnosisNew England Journal of Medicine.  285:785-787. 1971
1971 Failure of Isoprinosine in Amyotrophic Lateral SclerosisNew 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 bloodScience.  161:594-595. 1968
1968 Sulfite oxidase deficiency: Sulfate esters in tissues and urineMolecular 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


Year Title Altmetric
2016 Rett Syndrome: Clinical Aspects.  301-324. 2016
2016 Rett syndrome: Seeing the way forward.  765-777. 2016
2015 Peripheral Neuropathy in Inherited Metabolic Disease.  353-378. 2015
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

Principal Investigator On

  • A Randomized, Double-Blind, Placebo-Controlled, Cross-Over Study To Assess The Safety, Tolerability, and Efficacy Of Oral Ketamine in Patients with Rett Syndrome  awarded by RETT SYNDROME RESEARCH TRUST
  • Center of Excellence Clinical Support  awarded by International Rett Syndrome Foundation
  • Development of a Reliable, Valid, and Sensitive Outcome Measure in Rett Syndrome  awarded by VANDERBILT UNIVERSITY
  • Outcome Measures and Biomarkers Development for Rett Syndrome  awarded by RETT SYNDROME RESEARCH TRUST
  • Placebo-Controlled Trial of Lexapro (Escitalopram) for Anxiety in Rett Syndrome  awarded by International Rett Syndrome Foundation
  • Private Grant  awarded by NEUREN PHARMACEUTICALS - NEW
  • Private Grant  awarded by NEUREN PHARMACEUTICALS - NEW
  • Private Grant  awarded by NEWRON PHARMACEUTICALS S.P.A.
  • Private Grant  awarded by GW RESEARCH LTD.
  • Private Grant  awarded by ANAVEX LIFE SCIENCES CORP.
  • Private Grant  awarded by ANAVEX LIFE SCIENCES CORP.
  • Private Grant  awarded by ACADIA PHARMACEUTICALS, INC.
  • Private Grant  awarded by ACADIA PHARMACEUTICALS, INC.
  • Private Grant  awarded by ACADIA PHARMACEUTICALS, INC.
  • Private Grant  awarded by ACADIA PHARMACEUTICALS, INC.
  • Rare Disease CRC for New Therapies and New Diagnostics  awarded by National Institute of Child Health and Human Development/NIH/DHHS
  • Rett Syndrome Clinical Trial Consortium  awarded by RETT SYNDROME RESEARCH TRUST
  • Rett Syndrome, MECP2 Duplications, and Rett-Related Disorders Natural History  awarded by National Institute of Child Health and Human Development/NIH/DHHS
  • UAB Mental Retardation Research Center  awarded by National Institute of Child Health and Human Development/NIH/DHHS
  • UAB Mental Retardation Research Center - Core A  awarded by National Institute of Child Health and Human Development/NIH/DHHS
  • Education And Training

  • Doctor of Medicine, Stanford University 1965
  • Full Name

  • Alan Percy