Publications by authors named "Jeffrey L Neul"

67Publications

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

Detection of neurophysiological features in female R255X MeCP2 mutation mice.

Neurobiol Dis 2020 Nov 12;145:105083. Epub 2020 Sep 12.

Department of Pediatrics, Division of Neurology, Vanderbilt University Medical Center, Nashville, TN 37212, USA; Vanderbilt Kennedy Center, Vanderbilt University Medical Center, Nashville, TN 37203, USA. Electronic address:

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http://dx.doi.org/10.1016/j.nbd.2020.105083DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7572861PMC
November 2020

Cortisol profiles and clinical severity in MECP2 duplication syndrome.

J Neurodev Disord 2020 07 22;12(1):19. Epub 2020 Jul 22.

University of California, Irvine, and Johns Hopkins University, Baltimore, USA.

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http://dx.doi.org/10.1186/s11689-020-09322-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7376951PMC
July 2020

Comparison of Core Features in Four Developmental Encephalopathies in the Rett Natural History Study.

Ann Neurol 2020 08 29;88(2):396-406. Epub 2020 Jun 29.

Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1002/ana.25797DOI Listing
August 2020

Pharmacological read-through of R294X Mecp2 in a novel mouse model of Rett syndrome.

Hum Mol Genet 2020 Aug;29(15):2461-2470

Department of Neurosciences, University of California at San Diego, La Jolla, CA 92093, USA.

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http://dx.doi.org/10.1093/hmg/ddaa102DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7471501PMC
August 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

Towards a consensus on developmental regression.

Neurosci Biobehav Rev 2019 12 20;107:3-5. Epub 2019 Aug 20.

Department of Child and Adolescent Psychiatry and Psychotherapy, University Medical Center Goettingen, Goettingen, Germany; iDN - interdisciplinary Developmental Neuroscience, Division of Phoniatrics, Medical University of Graz, Graz, Austria; Leibniz ScienceCampus Primate Cognition, Goettingen, Germany; Center of Neurodevelopmental Disorders (KIND), Division of Neuropsychiatry, Centre for Psychiatry Research, Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden. Electronic address:

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http://dx.doi.org/10.1016/j.neubiorev.2019.08.014DOI Listing
December 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

Loss of skills and onset patterns in neurodevelopmental disorders: Understanding the neurobiological mechanisms.

Autism Res 2018 02 11;11(2):212-222. Epub 2017 Dec 11.

Autism Research Center, Glenrose Rehabilitation Hospital, Edmonton, AB, Canada.

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http://dx.doi.org/10.1002/aur.1903DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5825269PMC
February 2018

Embryonic hindbrain patterning genes delineate distinct cardio-respiratory and metabolic homeostatic populations in the adult.

Sci Rep 2017 08 22;7(1):9117. Epub 2017 Aug 22.

Department of Neuroscience, Baylor College of Medicine, Houston, Texas, USA.

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http://dx.doi.org/10.1038/s41598-017-08810-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5567350PMC
August 2017

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

Methyl-CpG binding-protein 2 function in cholinergic neurons mediates cardiac arrhythmogenesis.

Hum Mol Genet 2016 11;25(22):4983-4995

Jan and Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA.

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http://dx.doi.org/10.1093/hmg/ddw326DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6078594PMC
November 2016

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

Progressive Changes in a Distributed Neural Circuit Underlie Breathing Abnormalities in Mice Lacking MeCP2.

J Neurosci 2016 05;36(20):5572-86

Program in Developmental Biology, Baylor College of Medicine, Houston, Texas 77030, Jan and Duncan Neurological Research Institute, Texas Children's Hospital, Houston, Texas 77030, Department of Neurosciences, University of California-San Diego, La Jolla, California 92093, and Department of Molecular and Human Genetics, Baylor College of Medicine, Department of Neuroscience, and Departments of Pediatrics, Neurology, and Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, Texas 77030

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http://dx.doi.org/10.1523/JNEUROSCI.2330-15.2016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4871990PMC
May 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

Origin of a Non-Clarke's Column Division of the Dorsal Spinocerebellar Tract and the Role of Caudal Proprioceptive Neurons in Motor Function.

Cell Rep 2015 Nov 29;13(6):1258-1271. Epub 2015 Oct 29.

Department of Neuroscience, UT Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX 75390, USA. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2015.09.064DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4644487PMC
November 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

Therapeutic Advances in Autism and Other Neurodevelopmental Disorders.

Neurotherapeutics 2015 Jul;12(3):519-20

Division of Child Neurology, Department of Neurosciences, University of California, San Diego, La Jolla, CA, USA,

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http://dx.doi.org/10.1007/s13311-015-0364-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4489958PMC
July 2015

Wild-type microglia do not reverse pathology in mouse models of Rett syndrome.

Nature 2015 May;521(7552):E1-4

1] Department of Psychiatry, University of Iowa Carver College of Medicine, Iowa City, Iowa 52242, USA [2] Department of Neurology, University of Iowa Carver College of Medicine, Iowa City, Iowa 52242, USA [3] Veterans Affairs, University of Iowa Carver College of Medicine, Iowa City, Iowa 52242, USA [4] Weill Cornell Autism Research Program, Weill Cornell Medical College, New York, New York 10065, USA.

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http://dx.doi.org/10.1038/nature14444DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4684952PMC
May 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

Rett syndrome like phenotypes in the R255X Mecp2 mutant mouse are rescued by MECP2 transgene.

Hum Mol Genet 2015 May 29;24(9):2662-72. Epub 2015 Jan 29.

Interdepartmental Program in Translational Biology and Molecular Medicine, Department of Pediatrics, Section of Neurology, Baylor College of Medicine, Houston, TX, USA, Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA,

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http://dx.doi.org/10.1093/hmg/ddv030DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4383870PMC
May 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

Mutual antagonism between Sox10 and NFIA regulates diversification of glial lineages and glioma subtypes.

Nat Neurosci 2014 Oct 24;17(10):1322-9. Epub 2014 Aug 24.

1] Center for Cell and Gene Therapy, Baylor College of Medicine, Houston, Texas, USA. [2] Integrative Molecular and Biomedical Sciences Graduate Program, Baylor College of Medicine, Houston, Texas, USA. [3] Program in Developmental Biology, Baylor College of Medicine, Houston, Texas, USA. [4] Duncan Neurological Research Institute at Texas Children's Hospital, Houston, Texas, USA. [5] Department of Pediatrics, Neurology, and Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA. [6] Department of Neuroscience, Baylor College of Medicine, Houston, Texas, USA.

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http://dx.doi.org/10.1038/nn.3790DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4313923PMC
October 2014

Low bone mineral mass is associated with decreased bone formation and diet in girls with Rett syndrome.

J Pediatr Gastroenterol Nutr 2014 Sep;59(3):386-92

Department of Pediatrics, Baylor College of Medicine, Houston, TX.

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http://dx.doi.org/10.1097/MPG.0000000000000440DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4144049PMC
September 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

Brief report: MECP2 mutations in people without Rett syndrome.

J Autism Dev Disord 2014 Mar;44(3):703-11

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

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http://dx.doi.org/10.1007/s10803-013-1902-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3880396PMC
March 2014

Insulinotropic treatments exacerbate metabolic syndrome in mice lacking MeCP2 function.

Hum Mol Genet 2013 Jul 5;22(13):2626-33. Epub 2013 Mar 5.

Interdepartmental Program in Translational Biology and Molecular Medicine, Baylor College of Medicine, Houston, TX 77030, USA.

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http://dx.doi.org/10.1093/hmg/ddt111DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3674803PMC
July 2013

Overexpression of methyl-CpG binding protein 2 impairs T(H)1 responses.

Sci Transl Med 2012 Dec;4(163):163ra158

Translational Biology and Molecular Medicine Program, Baylor College of Medicine, Houston, TX 77030, USA.

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http://dx.doi.org/10.1126/scitranslmed.3004430DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3628825PMC
December 2012

Female Mecp2(+/-) mice display robust behavioral deficits on two different genetic backgrounds providing a framework for pre-clinical studies.

Hum Mol Genet 2013 Jan 1;22(1):96-109. Epub 2012 Oct 1.

Jan and Dan Duncan Neurological Research Institute, Texas Children’s Hospital, Houston, TX 77030, USA.

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http://dx.doi.org/10.1093/hmg/dds406DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3522402PMC
January 2013

Unfolding neurodevelopmental disorders: the mystery of developing connections.

Authors:
Jeffrey L Neul

Nat Med 2011 Nov 2;17(11):1353-5. Epub 2011 Nov 2.

Duncan Neurological Research Institute, Texas Children's Hospital, and in the Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.

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http://dx.doi.org/10.1038/nm.2552DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3629696PMC
November 2011

MeCP2 is critical within HoxB1-derived tissues of mice for normal lifespan.

J Neurosci 2011 Jul;31(28):10359-70

Jan and Dan Duncan Neurological Research Institute, Houston, Texas 77030, USA.

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http://dx.doi.org/10.1523/JNEUROSCI.0057-11.2011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3175623PMC
July 2011

Complexities of Rett syndrome and MeCP2.

J Neurosci 2011 Jun;31(22):7951-9

Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, Texas 77030, USA.

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http://www.jneurosci.org/cgi/doi/10.1523/JNEUROSCI.0169-11.2
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http://dx.doi.org/10.1523/JNEUROSCI.0169-11.2011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3127460PMC
June 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

Interested in a career as a clinician-scientist?

Authors:
Jeffrey L Neul

Dis Model Mech 2010 Mar-Apr;3(3-4):125-30

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http://dx.doi.org/10.1242/dmm.005462DOI Listing
May 2010

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

Neurologic complications associated with influenza A in children during the 2003-2004 influenza season in Houston, Texas.

Pediatrics 2004 Nov;114(5):e626-33

Section of Neurology, Department of Pediatrics, Texas Children's Hospital, Houston, Texas, USA.

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http://dx.doi.org/10.1542/peds.2004-0143DOI Listing
November 2004

Rett syndrome: a prototypical neurodevelopmental disorder.

Neuroscientist 2004 Apr;10(2):118-28

Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.

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http://dx.doi.org/10.1177/1073858403260995DOI Listing
April 2004