Positions

Selected Publications

Academic Article

Year Title Altmetric
2018 The course of awake breathing disturbances across the lifespan in Rett syndrome 2018
2018 Rett syndrome 2018
2018 MeCP2 deficiency leads to loss of glial Kir4.1 2018
2017 A Double-Blind, Randomized, Placebo-Controlled Clinical Study of Trofinetide in the Treatment of Rett Syndrome 2017
2017 Long-term outcomes of children with symptomatic congenital cytomegalovirus disease 2017
2017 Scoliosis in Rett Syndrome: Progression, Comorbidities, and Predictors 2017
2017 Assessment of Caregiver Inventory for Rett Syndrome 2017
2017 Hearing loss in children with asymptomatic congenital cytomegalovirus infection 2017
2017 Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2 2017
2017 Longitudinal course of epilepsy in Rett syndrome and related disorders 2017
2016 From Function to Phenotype: Impaired DNA Binding and Clustering Correlates with Clinical Severity in Males with Missense Mutations in MECP2 2016
2016 Loss of MeCP2 causes urological dysfunction and contributes to death by kidney failure in mouse models of rett syndrome 2016
2016 Progress in Rett Syndrome: from discovery to clinical trials 2016
2016 Caretaker Quality of Life in Rett Syndrome: Disorder Features and Psychological Predictors 2016
2016 Clinical guidelines for management of bone health in rett syndrome based on expert consensus and available evidence 2016
2015 In Memoriam: Bengt Arthur Hagberg, MD, PhD August 9, 1923-April 12, 2015 2015
2015 Rett Syndrome: Reaching for Clinical Trials 2015
2015 Age of diagnosis in rett syndrome: Patterns of recognition among diagnosticians and risk factors for late diagnosis 2015
2015 Improving Treatment Trial Outcomes for Rett Syndrome 2015
2015 The Changing Face of Survival in Rett Syndrome and MECP2-Related Disorders 2015
2015 Treatment of cardiac arrhythmias in a mouse model of Rett syndrome with Na<sup>+</sup>-channel-blocking antiepileptic drugs 2015
2014 Predictors of serum polychlorinated biphenyl concentrations in Anniston residents 2014
2014 Developmental delay in Rett syndrome: Data from the natural history study 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 2014
2014 Gastrointestinal dysmotility in rett syndrome 2014
2014 Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in rett syndrome 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] 2014
2014 Pubertal development in rett syndrome deviates from typical females 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 2014
2014 The American history of rett syndrome 2014
2013 Assessment and management of nutrition and growth in rett syndrome 2013
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. 2013
2013 Path to treat rett syndrome 2013
2013 Recent progress in Rett syndrome and MECP2 dysfunction: Assessment of potential treatment options 2013
2012 Growth failure and outcome in Rett syndrome: Specific growth references 2012
2012 Gastrointestinal and nutritional problems occur frequently throughout life in girls and women with rett syndrome 2012
2012 The phenotype associated with a large deletion on MECP2 2012
2012 Splice site, frameshift, and chimeric GFAP mutations in Alexander disease 2012
2012 Hippocampal CA1 pyramidal neurons of Mecp2 mutant mice show a dendritic spine phenotype only in the presymptomatic stage 2012
2011 Rett syndrome: Pathogenesis of lethal cardiac arrhythmias in Mecp2 mutant mice: Implication for therapy in Rett syndrome 2011
2011 Clinical severity and quality of life in children and adolescents with Rett syndrome 2011
2011 Vitamin D deficiency is prevalent in girls and women with rett syndrome 2011
2011 Rett Syndrome: Exploring the autism link 2011
2011 Experimental models of rett syndrome based on Mecp2 dysfunction 2011
2010 Rett syndrome diagnostic criteria: Lessons from the Natural History Study 2010
2010 Rett syndrome: Revised diagnostic criteria and nomenclature 2010
2010 Profiling scoliosis in rett syndrome 2010
2010 Updating the profile of C-terminal MECP2 deletions in Rett syndrome 2010
2010 Epilepsy and the natural history of Rett syndrome 2010
2010 Longevity in Rett Syndrome: Analysis of the North American Database 2010
2009 Loss of MeCP2 in aminergic neurons causes cell-autonomous defects in neurotransmitter synthesis and specific behavioral abnormalities 2009
2009 Variable phenotypic expression of a MECP2 mutation in a family 2009
2009 Dendritic spine pathologies in hippocampal pyramidal neurons from Rett syndrome brain and after expression of Rett-associated MECP2 mutations 2009
2009 InterRett, a model for international data collection in a rare genetic disorder 2009
2009 A study of the treatment of rett syndrome with folate and betaine 2009
2009 Bdnf overexpression in hippocampal neurons prevents dendritic atrophy caused by Rett-associated MECP2 mutations 2009
2009 FXYD1, a modulator of Na+, K+-ATPase activity, facilitates female sexual development by maintaining gonadotrophin-releasing hormone neuronal excitability 2009
2008 Rett syndrome: From recognition to diagnosis to intervention 2008
2008 Rett syndrome: Recent research progress 2008
2008 Investigating genotype-phenotype relationships in Rett syndrome using an international data set 2008
2008 Specific mutations in Methyl-CpG-Binding Protein 2 confer different severity in Rett syndrome 2008
2007 Rett syndrome: North American database 2007
2007 Rett syndrome deserves your attention 2007
2007 Nothing out of sequence? Think deletion! 2007
2006 Deep sedation with propofol in patients with Rett syndrome 2006
2006 Early progressive encephalopathy in boys and MECP2 mutations 2006
2006 Deep sedation with propofol in patients with Rett syndrome 2006
2005 Rett syndrome: Model of neurodevelopmental disorders 2005
2005 Rett syndrome: Pathogenesis, diagnosis, strategies, therapies, and future research directions 2005
2005 Does gender parity exist in Fabry disease? 2005
2005 Certification in child neurology: New directions for the twenty-first century 2005
2005 Spinal fluid 5-methyltetrahydrofolate levels are normal in Rett syndrome 2005
2005 Board certification in child neurology and neurology: Cohort study 2005
2005 Interrater agreement in the assessment of motor manifestations of Huntington's disease 2005
2005 Mutations in exon 1 of MECP2 are a rare cause of Rett syndrome. 2005
2004 Rett syndrome: Clinical and molecular update 2004
2004 Phenotypic Manifestations of MECP2 Mutations in Classical and Atypical Rett Syndrome 2004
2004 Child neurology training via the research pathway: Outcome study 2004
2004 Notice 2004
2003 Certification in neurodevelopmental disabilities: The development of a new subspecialty and results of the initial examinations 2003
2003 Eating difficulties in girls with Rett syndrome compared with other developmental disabilities 2003
2002 Rett syndrome: Current status and new vistas 2002
2002 Clinical and genetic heterogeneity in benign hereditary chorea 2002
2002 Clinical trials and treatment prospects 2002
2002 Mutations in TITF-1 are associated with benign hereditary chorea 2002
2001 Rett syndrome: clinical correlates of the newly discovered gene 2001
2001 Adrenoleukodystrophy and related disorders 2001
2001 Distal infantile neuroaxonal dystrophy - A new familial variant with perineuronal argyrophilic bodies 2001
2001 Chromosome 22q and the mind-brain interface: Bedside to bench to bedside 2001
2001 Neuropathology of occipital horn syndrome 2001
2000 Cocaine inhibition of neuronal differentiation in NGF-induced PC12 cells is independent of ras signaling 2000
2000 Genetics of Rett syndrome: Properties of the newly discovered gene and pathobiology of the disorder 2000
2000 Pelizaeus-Merzbacher disease: Splice sites are nice sites for disease expression 2000
2000 Cocaine inhibits NGF-induced PC12 cells differentiation through D1-type dopamine receptors 2000
2000 Decreased cerebrospinal fluid levels of β-phenylethylamine in patients with Rett syndrome 2000
2000 Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes 2000
2000 Enlarged parietal foramina: Association with cerebral venous and cortical anomalies 2000
1999 Eliminating institutional child abuse: A road too well traveled 1999
1999 Paul Dyken Lecture of the Southern Pediatric Neurology Society. Inherited neurodegenerative disease: the evolution of our thinking. 1999
1999 Rett syndrome: 1H spectroscopic imaging at 4.1 Tesla 1999
1998 Rett syndrome: Clinical experience in Alabama 1998
1998 Age-related changes in the level of urinary myelin basic protein-like material during childhood 1998
1998 C-fos mediates cocaine inhibition of NGF-induced PC12 cell differentiation 1998
1998 Cocaine-inhibited neuronal differentiation in NGF-induced PC12 cells and altered C-fos expression are reversed by C-fos antisense oligonucleotide 1998
1998 Hand and foot growth failure in Rett syndrome 1998
1998 Neonatal encephalopathy in two boys in families with recurrent Rett syndrome 1998
1998 The genetic basis of Rett syndrome: Candidate gene considerations 1998
1997 Decreased cerebrospinal fluid levels of substance P in patients with Rett syndrome 1997
1997 Neurobiology and neurochemistry of Rett syndrome 1997
1997 Bobble-head doll syndrome: report of a case and review of the literature. 1997
1997 Linking molecular biology to clinical advances in developmental neurology 1997
1997 In vitro copper stimulation of plasma peptidylglycine α-amidating monooxygenase in menkes disease variant with occipital horns 1997
1997 Krabbe continuum or clinical conundrum? 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 1996
1996 Opportunities and challenges in academic neurology: Report of the long range planning committee of the American Neurological Association 1996
1996 Polyunsaturated fatty acid accretion in first- and second-trimester human fetal brain: Lack of correlation with levels in paired placental samples 1996
1996 Rett syndrome: The evolving picture of a disorder of brain development 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 1995
1995 Rett syndrome 1995
1994 Essential fatty acid status is altered in pregnancies complicated by intrauterine growth retardation. 1994
1994 Globoid cell leukodystrophy: comparison of neuropathology with magnetic resonance imaging 1994
1994 Choline Deficiency in Cultured Adrenal Medullary Cells: Effect on Phosphatidylcholine Biosynthesis 1994
1994 Abnormal carbohydrate metabolism in cerebrospinal fluid in Rett syndrome 1994
1994 Altered Energy Balance May Account for Growth Failure in Rett Syndrome 1994
1994 Electrocardiographic findings in Rett syndrome: An explanation for sudden death? 1994
1994 Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus 1994
1994 Rett syndrome: Controlled study of an oral opiate antagonist, naltrexone 1994
1993 Epidemiology of Rett syndrome: A population-based registry 1993
1993 Meeting Report: Second International Rett Syndrome Workshop and Symposium (8-11 October 1992, Orlando, Florida, USA) 1993
1993 The Pattern of Growth Failure in Rett Syndrome 1993
1992 Childhood metabolic disease with central nervous system involvement 1992
1992 Examination of X chromosome markers in Rett syndrome: Exclusion mapping with a novel variation on multilocus linkage analysis 1992
1992 Neurochemistry of Rett syndrome 1992
1992 Neurochemistry of the Rett syndrome 1992
1992 Progressive hearing loss in infants with asymptomatic congenital cytomegalovirus infection 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 1991
1991 Phosphoglyceride biosynthesis in bovine adrenal chromaffin cells 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 1991
1991 Gangliosides in Human Fetal Brain 1991
1991 Glycosphingolipid Glycosyltransferases in Human Fetal Brain 1991
1991 Metabolic disease with central nervous system involvement 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 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 1990
1990 Extrapyramidal involvement in Rett’s syndrome 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 1990
1990 Rett syndrome and the autistic disorders 1990
1990 Rett syndrome: Cerebellar pathology 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 1989
1989 Chiari type I malformation in children 1989
1989 Neurometabolic disorders 1989
1989 Rett syndrome: Biogenic amines and metabolites in postmortem brain 1989
1988 Neuropathology of Rett syndrome 1988
1988 Recommendations regarding handling of the necropsy in Rett syndrome 1988
1988 Research in Rett syndrome: Past, present, and future 1988
1988 Rett syndrome 1988
1988 Rett syndrome: Qualitative and quantitative differentiation from autism 1988
1987 The inherited neurodegenerative disorders of childhood: clinical assessment. 1987
1987 Neurodiagnostic Studies in Krabbe's Disease 1987
1987 Rett syndrome: Discrimination of typical and variant forms 1987
1987 Rett's Syndrome: Correlation of Electroencephalographic Characteristics With Clinical Staging 1987
1987 Rett's syndrome: Characterization of respiratory patterns and sleep 1987
1987 Review Article: The Inherited Neurodegenerative Disorders of Childhood: Clinical Assessment 1987
1986 Biogenic Amines in the Rett Syndrome 1986
1986 Krabbe disease: Specific MRI and CT findings 1986
1985 Reduction of Biogenic Amine Levels in the Rett Syndrome 1985
1985 Cerebellar hemorrhage in the term neonate: Developmental and neurologic outcome 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 1984
1984 Necrotizing fasciitis of the parapharyngeal space with carotid artery occlusion and acute hemiplegia 1984
1984 Control of phosphatidylethanolamine metabolism in yeast: Diacylglycerol ethanolaminephosphotransferase and diacylglycerol cholinephosphotransferase are separate enzymes 1984
1983 Characterization of brain phosphatidylserine decarboxylase: Localization in the mitochondrial inner membrane 1983
1982 Properties of Particulate and Detergent‐Solubilized Phospholipid N‐Methyltransferase Activity from Calf Brain 1982
1981 Successful conservative management of cerebellar hematomas in term neonates 1981
1973 Gm-gangliosidosis type I: in utero detection and fetal manifestations. 1973
1972 Neoplasms of the central nervous system: Epidemiologic considerations 1972
1972 Optic Neuritis and Multiple Sclerosis: An Epidemiologic Study 1972
1971 Multiple Sclerosis in Rochester, Minn: A 60-Year Appraisal 1971
1970 Neoplasms of the central nervous system: epidemiologic considerations. 1970
1968 Multiple sclerosis in Rochester, Minnesota--a 60-year appraisal. 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

Principal Investigator On

  • Private Grant  awarded by ANAVEX LIFE SCIENCES CORP. 2019 - 2022
  • Private Grant  awarded by GW RESEARCH LTD. 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
  • 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 - 2021
  • Rett Syndrome, MECP2 Duplications, and Rett-Related Disorders Natural History  awarded by National Institute of Child Health and Human Development/NIH/DHHS 2014 - 2020
  • Private Grant  awarded by NEWRON PHARMACEUTICALS S.P.A. 2016 - 2019
  • Outcome Measures and Biomarkers Development for Rett Syndrome  awarded by RETT SYNDROME RESEARCH TRUST 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
  • Full Name

  • Alan Percy