Positions

Selected Publications

Academic Article

Year Title Altmetric
2020 Metabolic Signatures Differentiate Rett Syndrome From Unaffected SiblingsFrontiers in Integrative Neuroscience.  14. 2020
2018 The course of awake breathing disturbances across the lifespan in Rett syndrome 2018
2018 Rett syndromeAnasthesiologie und Intensivmedizin.  59:S117-S124. 2018
2018 MeCP2 deficiency leads to loss of glial Kir4.1eNeuro.  5. 2018
2017 Assessment of Caregiver Inventory for Rett SyndromeJournal 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 MECP2Genetics 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 SyndromeJournal 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, AlabamaEnvironment 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 optionsFuture Neurology.  8:21-28. 2013
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
2011 Rett Syndrome: Exploring the autism linkArchives 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 StudyAnnals of Neurology.  68:951-955. 2010
2010 Rett syndrome: Revised diagnostic criteria and nomenclatureAnnals of Neurology.  68:944-950. 2010
2009 A study of the treatment of rett syndrome with folate and betaineJournal of Child Neurology.  24:551-556. 2009
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
2007 Rett syndrome: North American databaseJournal of Child Neurology.  22:1338-1341. 2007
2007 Rett syndrome deserves your attentionFuture Neurology.  2:233-236. 2007
2006 Deep sedation with propofol in patients with Rett syndromeJournal of Child Neurology.  21:857-860. 2006
2006 Deep sedation with propofol in patients with Rett syndromeJournal of Child Neurology.  21:210-213. 2006
2005 Certification in child neurology: New directions for the twenty-first centuryJournal of Child Neurology.  20:644-647. 2005
2005 Board certification in child neurology and neurology: Cohort studyJournal of Child Neurology.  20:25-27. 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 Syndrome 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
2002 Mutations in TITF-1 are associated with benign hereditary choreaHuman Molecular Genetics.  11:971-979. 2002
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 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
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 Cocaine-inhibited neuronal differentiation in NGF-induced PC12 cells and altered C-fos expression are reversed by C-fos antisense oligonucleotideAnnals of the New York Academy of Sciences.  846:427-430. 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
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 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 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 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 samplesBiochemical and molecular medicine.  59:38-43. 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 disordersJournal of Clinical Epidemiology.  48:1069-1076. 1995
1995 Rett syndromeCurrent Opinion in Neurology.  8:156-160. 1995
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 BiosynthesisBiochemical medicine and metabolic biology.  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 Rett syndrome: Controlled study of an oral opiate antagonist, naltrexoneAnnals 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 SyndromeAmerican journal of diseases of children (1911).  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 syndromeBrain 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 retardationBBA - Lipids and Lipid Metabolism.  1084:173-177. 1991
1991 Late-infantile Gaucher disease in a child with myoclonus and bulbar signs: neuropathological and neurochemical findingsActa Neuropathologica.  82:152-157. 1991
1991 Glycolipids and glycosyltransferases in permanent cell lines established from human medulloblastomasBBA - Lipids and Lipid Metabolism.  1081:253-261. 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 syndrome 1990
1990 Asymptomatic Congenital Cytomegalovirus Infection: Audiologic, Neuroradiologic, and Neurodevelopmental Abnormalities During the First YearAmerican 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 typeActa 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 syndromeAnnals of Neurology.  25:56-60. 1989
1989 Neurometabolic disordersCurrent opinion in neurology and neurosurgery.  1:1037-1044. 1989
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: 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 StagingArchives of Neurology.  44:1053-1056. 1987
1987 Rett's syndrome: Characterization of respiratory patterns and sleepAnnals of Neurology.  21:377-382. 1987
1987 Review Article: The Inherited Neurodegenerative Disorders of Childhood: Clinical AssessmentJournal 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-methylationArchives of Biochemistry and Biophysics.  235:18-25. 1984
1984 Control of phosphatidylethanolamine metabolism in yeast: Diacylglycerol ethanolaminephosphotransferase and diacylglycerol cholinephosphotransferase are separate enzymesArchives of Biochemistry and Biophysics.  230:69-81. 1984
1983 Characterization of brain phosphatidylserine decarboxylase: Localization in the mitochondrial inner membraneArchives of Biochemistry and Biophysics.  223:484-494. 1983
1972 Optic Neuritis and Multiple Sclerosis: An Epidemiologic StudyJAMA Ophthalmology.  87:135-139. 1972
1971 Multiple Sclerosis in Rochester, Minn: A 60-Year AppraisalArchives of Neurology.  25:105-111. 1971

Chapter

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

  • Private Grant  awarded by ACADIA PHARMACEUTICALS, INC. 2019 - 2023
  • Private Grant  awarded by ACADIA PHARMACEUTICALS, INC. 2020 - 2023
  • 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 2019 - 2022
  • Development of a Reliable, Valid, and Sensitive Outcome Measure in Rett Syndrome  awarded by VANDERBILT UNIVERSITY 2020 - 2021
  • Rett Syndrome, MECP2 Duplications, and Rett-Related Disorders Natural History  awarded by National Institute of Child Health and Human Development/NIH/DHHS 2014 - 2021
  • Private Grant  awarded by ANAVEX LIFE SCIENCES CORP. 2019 - 2021
  • Private Grant  awarded by ANAVEX LIFE SCIENCES CORP. 2019 - 2021
  • Rett Syndrome Clinical Trial Consortium  awarded by RETT SYNDROME RESEARCH TRUST 2018 - 2021
  • Private Grant  awarded by GW RESEARCH LTD. 2019 - 2021
  • Outcome Measures and Biomarkers Development for Rett Syndrome  awarded by RETT SYNDROME RESEARCH TRUST 2016 - 2019
  • Private Grant  awarded by NEWRON PHARMACEUTICALS S.P.A. 2016 - 2019
  • Private Grant  awarded by NEUREN PHARMACEUTICALS - NEW 2016 - 2017
  • Private Grant  awarded by NEUREN PHARMACEUTICALS - NEW 2013 - 2015
  • Rare Disease CRC for New Therapies and New Diagnostics  awarded by National Institute of Child Health and Human Development/NIH/DHHS 2009 - 2014
  • UAB Mental Retardation Research Center  awarded by National Institute of Child Health and Human Development/NIH/DHHS 2008 - 2014
  • UAB Mental Retardation Research Center - Core A  awarded by National Institute of Child Health and Human Development/NIH/DHHS 2008 - 2014
  • Placebo-Controlled Trial of Lexapro (Escitalopram) for Anxiety in Rett Syndrome  awarded by International Rett Syndrome Foundation 2012 - 2014
  • Education And Training

  • Doctor of Medicine, Stanford University 1965
  • Full Name

  • Alan Percy