Publications by authors named "Alan K Percy"

69Publications

Phenotypic features in MECP2 duplication syndrome: Effects of age.

Am J Med Genet A 2020 Nov 10. Epub 2020 Nov 10.

Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee, USA.

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http://dx.doi.org/10.1002/ajmg.a.61956DOI Listing
November 2020

Metabolic Signatures Differentiate Rett Syndrome From Unaffected Siblings.

Front Integr Neurosci 2020 25;14. Epub 2020 Feb 25.

Department of Pediatrics, University of Alabama at Birmingham, Birmingham, AL, United States.

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http://dx.doi.org/10.3389/fnint.2020.00007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7052375PMC
February 2020

Severity Assessment in CDKL5 Deficiency Disorder.

Pediatr Neurol 2019 08 27;97:38-42. Epub 2019 Mar 27.

Children's Hospital Colorado and University of Colorado School of Medicine Aurora, Colorado; Department of Pediatrics, Aurora, Colorado; Department of Pharmacology, Aurora, Colorado; Department of Neurology, Aurora, Colorado; Department of Otolaryngology, Aurora, Colorado. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2019.03.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6659999PMC
August 2019

Hand stereotypies: Lessons from the Rett Syndrome Natural History Study.

Neurology 2019 05 3;92(22):e2594-e2603. Epub 2019 May 3.

From the Greenwood Genetic Center (J.L.S., C.B.B., C.-F.C., A.E.S., S.A.S., A.E.T., W.E.K.), Center for Translational Research, SC; Department of Neurology (M.E.D., D.N.L.), Boston Children's Hospital, MA; Department of Pediatrics and Neurology (D.G.G.), Baylor College of Medicine, Houston, TX; Civitan International Research Center (J.B.L.), School of Public Health (G.R.C.), University of Alabama at Birmingham; Department of Psychiatry and Human Behavior (L.M.O.), E.P. Bradley Hospital, Warren Alpert Medical School of Brown University, Providence, RI; Department of Pediatrics, Division of Neurology (A.K.P.), Civitan International Research Center, University of Alabama at Birmingham; Vanderbilt Kennedy Center (J.L.N.), Vanderbilt University Medical Center, Nashville, TN; Department of Pediatrics (W.E.K.), University of South Carolina School of Medicine, Columbia; and Department of Human Genetics (W.E.K.), Emory University School of Medicine, Atlanta, GA.

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http://www.neurology.org/lookup/doi/10.1212/WNL.000000000000
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http://dx.doi.org/10.1212/WNL.0000000000007560DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6556084PMC
May 2019

Double-blind, randomized, placebo-controlled study of trofinetide in pediatric Rett syndrome.

Neurology 2019 04 27;92(16):e1912-e1925. Epub 2019 Mar 27.

From the Department of Pediatrics and Neurology (D.G.G.), Baylor College of Medicine, Houston, TX; Department of Neurosciences (J.L.N.), University of California, San Diego; Greenwood Genetic Center (W.E.K.), Center for Translational Research, Greenwood, SC; Pediatrics, Neurological Sciences, and Biochemistry (E.B.K.), Rush University Medical Center, Chicago, IL;Vital Systems, Inc. (S.C., G.S.), Rolling Meadows, IL; Clinical Pharmacology & Therapeutics Group (S.O., O.D.P.), University College London, UK; Neuren Pharmaceuticals, Ltd. (L.G., N.E.J.), Camberwell, VIC, Australia; Department of Pediatrics (A.K.P.), Division of Neurology, University of Alabama at Birmingham. J.L.N. is currently affiliated with the Vanderbilt University Medical Center, Vanderbilt Kennedy Center, Nashville, TN.

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http://dx.doi.org/10.1212/WNL.0000000000007316DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6550498PMC
April 2019

Behavioral profiles in Rett syndrome: Data from the natural history study.

Brain Dev 2019 Feb 11;41(2):123-134. Epub 2018 Sep 11.

Greenwood Genetic Center, SC, United States; University of South Carolina School of Medicine, Department of Pediatrics, SC, United States; Emory University School of Medicine, Department of Human Genetics, GA, United States. Electronic address:

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http://dx.doi.org/10.1016/j.braindev.2018.08.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6392009PMC
February 2019

When Rett syndrome is due to genes other than .

Transl Sci Rare Dis 2018 Apr 13;3(1):49-53. Epub 2018 Apr 13.

Kennedy Center, Vanderbilt University, Nashville, TN, USA.

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http://dx.doi.org/10.3233/TRD-180021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5900556PMC
April 2018

MeCP2 Deficiency Leads to Loss of Glial Kir4.1.

eNeuro 2018 Jan-Feb;5(1). Epub 2018 Feb 19.

Department of Cell, Developmental and Integrative Biology, University of Alabama at Birmingham, Birmingham, AL 35294.

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http://dx.doi.org/10.1523/ENEURO.0194-17.2018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5818552PMC
January 2019

Scoliosis in Rett Syndrome: Progression, Comorbidities, and Predictors.

Pediatr Neurol 2017 05 7;70:20-25. Epub 2017 Feb 7.

University of Alabama at Birmingham, School of Medicine, Birmingham, Alabama; University of Alabama at Birmingham, Civitan International Research Center, Birmingham, Alabama. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2017.01.032DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5461984PMC
May 2017

Assessment of Caregiver Inventory for Rett Syndrome.

J Autism Dev Disord 2017 Apr;47(4):1102-1112

Civitan International Research Center, University of Alabama at Birmingham, 1720 2nd Avenue South, CIRC 320E, Birmingham, AL, 35294-0021, USA.

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http://link.springer.com/10.1007/s10803-017-3034-3
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http://dx.doi.org/10.1007/s10803-017-3034-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5357458PMC
April 2017

From Function to Phenotype: Impaired DNA Binding and Clustering Correlates with Clinical Severity in Males with Missense Mutations in MECP2.

Sci Rep 2016 12 8;6:38590. Epub 2016 Dec 8.

Molecular Neuropsychiatry &Development (MiND) Lab, Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, ON, Canada.

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http://dx.doi.org/10.1038/srep38590DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5144150PMC
December 2016

Progress in Rett Syndrome: from discovery to clinical trials.

Authors:
Alan K Percy

Wien Med Wochenschr 2016 Sep 4;166(11-12):325-32. Epub 2016 Aug 4.

Civitan International Research Center, University of Alabama at Birmingham, 1720 2nd Avenue South, 35294-0021, Birmingham, AL, USA.

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http://dx.doi.org/10.1007/s10354-016-0491-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5005392PMC
September 2016

Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2.

Genet Med 2017 01 12;19(1):13-19. Epub 2016 May 12.

Section of Child Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.

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http://dx.doi.org/10.1038/gim.2016.42DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5107176PMC
January 2017

Caretaker Quality of Life in Rett Syndrome: Disorder Features and Psychological Predictors.

Pediatr Neurol 2016 05 11;58:67-74. Epub 2016 Jan 11.

University of Alabama at Birmingham, Civitan International Research Center, Birmingham, Alabama. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2015.12.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4899118PMC
May 2016

MeCP2 in the regulation of neural activity: Rett syndrome pathophysiological perspectives.

Degener Neurol Neuromuscul Dis 2015 14;5:103-116. Epub 2015 Oct 14.

Department of Cell, Developmental, and Integrative Biology.

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http://dx.doi.org/10.2147/DNND.S61269DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7337177PMC
October 2015

The Changing Face of Survival in Rett Syndrome and MECP2-Related Disorders.

Pediatr Neurol 2015 Nov 26;53(5):402-11. Epub 2015 Jun 26.

Civitan International Research Center, University of Alabama at Birmingham, Alabama. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2015.06.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4609589PMC
November 2015

Rett Syndrome: Reaching for Clinical Trials.

Neurotherapeutics 2015 Jul;12(3):631-40

Department of Neurobiology, Civitan International Research Center, The University of Alabama at Birmingham, Birmingham, AL, USA.

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http://dx.doi.org/10.1007/s13311-015-0353-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4489949PMC
July 2015

Treatment of cardiac arrhythmias in a mouse model of Rett syndrome with Na+-channel-blocking antiepileptic drugs.

Dis Model Mech 2015 Apr 20;8(4):363-71. Epub 2015 Feb 20.

Interdepartmental Program in Translational Biology and Molecular Medicine, Baylor College of Medicine, Houston, TX 77030, USA. Jan and Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA. Department of Pediatrics, University of Alabama at Birmingham, Birmingham, AL, USA. Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA. Cardiovascular Research Institute, Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX 77030, USA.

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http://dx.doi.org/10.1242/dmm.020131DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4381335PMC
April 2015

Pubertal development in Rett syndrome deviates from typical females.

Pediatr Neurol 2014 Dec 29;51(6):769-75. Epub 2014 Aug 29.

Civitan International Research Center, University of Alabama at Birmingham, Birmingham, Alabama. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2014.08.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4254166PMC
December 2014

Developmental delay in Rett syndrome: data from the natural history study.

J Neurodev Disord 2014 22;6(1):20. Epub 2014 Jul 22.

Civitan International Research Center, University of Alabama at Birmingham, 1720 2nd Avenue South, Birmingham, AL 35294-0021, USA.

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http://dx.doi.org/10.1186/1866-1955-6-20DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4112822PMC
July 2014

Recent Progress in Rett Syndrome and MeCP2 Dysfunction: Assessment of Potential Treatment Options.

Future Neurol 2013 Jan;8(1)

Department of Neurobiology, Civitan International Research Center, The University of Alabama at Birmingham, Birmingham, AL 35294, USA ; Department of Pediatrics, Civitan International Research Center, The University of Alabama at Birmingham, Birmingham, AL 35294, USA.

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http://dx.doi.org/10.2217/fnl.12.79DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3859379PMC
January 2013

Neuroscience. Path to treat Rett syndrome.

Authors:
Alan K Percy

Science 2013 Oct;342(6156):318-20

Department of Pediatrics, Neurology, Neurobiology, Genetics, and Psychology, Civitan International Research Center, University of Alabama, Birmingham, AL 35233, USA.

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http://dx.doi.org/10.1126/science.1245657DOI Listing
October 2013

Evaluation of current pharmacological treatment options in the management of Rett syndrome: from the present to future therapeutic alternatives.

Curr Clin Pharmacol 2013 Nov;8(4):358-69

Department of Pediatrics, CIRC-320, The University of Alabama at Birmingham, 1530 3rd Avenue South, Birmingham, AL 35294-0021, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3789853PMC
http://dx.doi.org/10.2174/15748847113086660069DOI Listing
November 2013

Hippocampal CA1 pyramidal neurons of Mecp2 mutant mice show a dendritic spine phenotype only in the presymptomatic stage.

Neural Plast 2012 30;2012:976164. Epub 2012 Jul 30.

Department of Neurobiology, Civitan International Research Center, The University of Alabama at Birmingham, Birmingham, AL 35294, USA.

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http://www.hindawi.com/journals/np/2012/976164/
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http://dx.doi.org/10.1155/2012/976164DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3418521PMC
November 2012

Rett syndrome: exploring the autism link.

Authors:
Alan K Percy

Arch Neurol 2011 Aug;68(8):985-9

Civitan International Research Center, University of Alabama at Birmingham, 35294, USA.

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http://dx.doi.org/10.1001/archneurol.2011.149DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3674963PMC
August 2011

Experimental models of Rett syndrome based on Mecp2 dysfunction.

Exp Biol Med (Maywood) 2011 Jan;236(1):3-19

Department of Neurobiology, The University of Alabama at Birmingham, Birmingham, AL 35294, USA.

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http://dx.doi.org/10.1258/ebm.2010.010261DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3059199PMC
January 2011

Rett syndrome diagnostic criteria: lessons from the Natural History Study.

Ann Neurol 2010 Dec;68(6):951-5

Department of Pediatric (Neurology) and Civitan International Research Center, University of Alabama at Birmingham, Birmingham, AL,USA.

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http://dx.doi.org/10.1002/ana.22154DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3021984PMC
December 2010

Variable phenotypic expression of a MECP2 mutation in a family.

J Neurodev Disord 2009 Dec;1(4):313

Neuromuscular and Rehabilitation Associates of Northern Michigan, Traverse City, MI, USA.

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http://dx.doi.org/10.1007/s11689-009-9034-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2819215PMC
December 2009

Profiling scoliosis in Rett syndrome.

Pediatr Res 2010 Apr;67(4):435-9

Department of Pediatrics, University of Alabama at Birmingham, Birmingham, Alabama 35294, USA.

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http://dx.doi.org/10.1203/PDR.0b013e3181d0187fDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2852102PMC
April 2010

Longevity in Rett syndrome: analysis of the North American Database.

J Pediatr 2010 Jan;156(1):135-138.e1

School of Public Health, University of Alabama at Birmingham, Birmingham, AL, USA..

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http://dx.doi.org/10.1016/j.jpeds.2009.07.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2794941PMC
January 2010

Dendritic spine pathologies in hippocampal pyramidal neurons from Rett syndrome brain and after expression of Rett-associated MECP2 mutations.

Neurobiol Dis 2009 Aug 12;35(2):219-33. Epub 2009 May 12.

Department of Neurobiology, Evelyn McKnight Brain Institute, Civitan International Research Center, The University of Alabama at Birmingham, Birmingham, AL 35294-2182, USA.

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http://dx.doi.org/10.1016/j.nbd.2009.05.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2722110PMC
August 2009

Bdnf overexpression in hippocampal neurons prevents dendritic atrophy caused by Rett-associated MECP2 mutations.

Neurobiol Dis 2009 May 3;34(2):199-211. Epub 2009 Jan 3.

Department of Neurobiology, Evelyn McKnight Brain Institute, Civitan International Research Center, The University of Alabama at Birmingham, 35294-2182, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S096999610800315
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http://dx.doi.org/10.1016/j.nbd.2008.12.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2726722PMC
May 2009

Rett syndrome: from recognition to diagnosis to intervention.

Authors:
Alan K Percy

Expert Rev Endocrinol Metab 2008 May;3(3):327-336

a 1530 3rd Avenue South, Civitan International Research Center, Birmingham, AL 35294, USA.

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http://dx.doi.org/10.1586/17446651.3.3.327DOI Listing
May 2008

Rett syndrome: North American database.

J Child Neurol 2007 Dec;22(12):1338-41

Civitan International Research Center, University of Alabama at Birmingham, 35294-0021, USA.

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http://dx.doi.org/10.1177/0883073807308715DOI Listing
December 2007

Rett syndrome: recent research progress.

Authors:
Alan K Percy

J Child Neurol 2008 May 3;23(5):543-9. Epub 2007 Dec 3.

Department of Pediatrics, University of Alabama at Birmingham, AL 35294-0021, USA.

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http://journals.sagepub.com/doi/10.1177/0883073807309786
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http://dx.doi.org/10.1177/0883073807309786DOI Listing
May 2008

Nothing out of sequence?: think deletion!

Authors:
Alan K Percy

Neurology 2007 Mar;68(13):975-6

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http://dx.doi.org/10.1212/01.wnl.0000260457.42141.30DOI Listing
March 2007

Deep sedation with propofol in patients with Rett syndrome.

J Child Neurol 2006 Oct;21(10):857-60

Department of Pediatrics, Division of Critical Care, University of Alabama, Birmingham, AL 35233, USA.

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http://rettgirl.org/wp-content/uploads/2013/10/Tofil-propofo
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http://dx.doi.org/10.1177/08830738060210100101DOI Listing
October 2006

Deep sedation with propofol in patients with Rett syndrome.

J Child Neurol 2006 Mar;21(3):210-3

Department of Pediatrics, Division of Critical Care, University of Alabama at Birmingham, Birmingham, AL, USA.

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http://dx.doi.org/10.2310/7010.2006.00051DOI Listing
March 2006

Rett syndrome: model of neurodevelopmental disorders.

J Child Neurol 2005 Sep;20(9):718-21

Civitan International Research Center, University of Alabama, Birmingham, AL 35294, USA.

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http://dx.doi.org/10.1177/08830738050200090301DOI Listing
September 2005

Rett syndrome: pathogenesis, diagnosis, strategies, therapies, and future research directions.

J Child Neurol 2005 Sep;20(9):708-17

Department of Health Psychology, University of Missouri-Columbia, MO, USA.

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http://dx.doi.org/10.1177/08830738050200090201DOI Listing
September 2005

Certification in child neurology: new directions for the twenty-first century.

J Child Neurol 2005 Aug;20(8):644-7

University of Alabama, Birmingham, AL, USA.

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http://dx.doi.org/10.1177/08830738050200080201DOI Listing
August 2005

Does gender parity exist in Fabry disease?

Neurology 2005 Aug;65(4):508-9

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http://dx.doi.org/10.1212/01.wnl.0000176869.88481.8dDOI Listing
August 2005

Board certification in child neurology and neurology: cohort study.

J Child Neurol 2005 Jan;20(1):25-7

American Board of Psychiatry and Neurology, Inc, Deerfield, IL 60015, USA.

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http://dx.doi.org/10.1177/08830738050200010302DOI Listing
January 2005

Rett syndrome: clinical and molecular update.

Curr Opin Pediatr 2004 Dec;16(6):670-7

Department of Pediatrics, University of Alabama at Birmingham, Birmingham, Alabama, USA.

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http://www.rettsearch.org/Outcome/files/RTT_Rev_CurrOpinPedi
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http://dx.doi.org/10.1097/01.mop.0000143693.59408.ceDOI Listing
December 2004

Child neurology training via the research pathway: outcome study.

J Child Neurol 2004 Feb;19(2):142-4

Department of Pediatrics, University of Alabama at Birmingham, Birmingham, AL 35233-1711, USA.

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http://dx.doi.org/10.1177/08830738040190021001DOI Listing
February 2004

Certification in neurodevelopmental disabilities: the development of a new subspecialty and results of the initial examinations.

Ment Retard Dev Disabil Res Rev 2003 ;9(2):128-31

University of Tennessee Health Science Center, Memphis, Tennessee 38105, USA.

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http://dx.doi.org/10.1002/mrdd.10069DOI Listing
September 2003

Rett syndrome. Current status and new vistas.

Authors:
Alan K Percy

Neurol Clin 2002 Nov;20(4):1125-41

Departments of Pediatrics, Neurology, and Neurobiology, University of Alabama, Birmingham School of Medicine, 1600 7th Avenue South, Suite 516, Birmingham, AL 35233, USA.

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http://dx.doi.org/10.1016/s0733-8619(02)00022-1DOI Listing
November 2002

Eating difficulties in girls with Rett syndrome compared with other developmental disabilities.

J Am Diet Assoc 2003 Feb;103(2):224-30

Children's National Medical Center, Department of Genetics and Metabolism, Washington, DC, USA.

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http://dx.doi.org/10.1053/jada.2003.50026DOI Listing
February 2003

Clinical trials and treatment prospects.

Authors:
Alan K Percy

Ment Retard Dev Disabil Res Rev 2002 ;8(2):106-11

University of Alabama at Birmingham, School of Medicine, Birmingham, Alabama 35233, USA.

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http://dx.doi.org/10.1002/mrdd.10022DOI Listing
September 2002

Cocaine-Inhibited Neuronal Differentiation in NGF-Induced PC12 Cells and Altered C-fos Expression Are Reversed by C-fos Antisense Oligonucleotide.

Ann N Y Acad Sci 1998 Jun;846(1):427-430

Department of Pediatrics and Neurobilogy, University of Alabama at Birmingham, Birmingham, Alabama 35294-00017, USA.

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http://dx.doi.org/10.1111/j.1749-6632.1998.tb09772.xDOI Listing
June 1998