Walter E Kaufmann

Walter E Kaufmann

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Walter E Kaufmann

Publications by authors named "Walter E Kaufmann"

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ANAVEX®2-73 (blarcamesine), a Sigma-1 receptor agonist, ameliorates neurologic impairments in a mouse model of Rett syndrome.

Pharmacol Biochem Behav 2019 Nov 5;187:172796. Epub 2019 Nov 5.

Anavex Life Sciences Corp., 51 West 52nd Street, 7th floor, New York, NY 10019, USA.

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http://dx.doi.org/10.1016/j.pbb.2019.172796DOI Listing
November 2019

Severity Assessment in CDKL5 Deficiency Disorder.

Pediatr Neurol 2019 Aug 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

Transcriptomic Studies in Mouse Models of Rett Syndrome: A Review.

Neuroscience 2019 08 21;413:183-205. Epub 2019 Jun 21.

Neuropsychiatric Genetics, School of Medicine, Trinity Center for Health Sciences, St James Hospital D8, Dublin, Ireland; Trinity College Institute of Neuroscience, Lloyd Building, D2, Dublin, Ireland. Electronic address:

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http://dx.doi.org/10.1016/j.neuroscience.2019.06.013DOI Listing
August 2019

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

Neurology 2019 May 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 Apr 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

Towards a better diagnosis and treatment of Rett syndrome: a model synaptic disorder.

Brain 2019 02;142(2):239-248

Department of Human Genetics, Emory University School of Medicine, Atlanta GA, USA.

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https://academic.oup.com/brain/advance-article/doi/10.1093/b
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http://dx.doi.org/10.1093/brain/awy323DOI Listing
February 2019

Best Practices in Fragile X Syndrome Treatment Development.

Brain Sci 2018 Dec 15;8(12). Epub 2018 Dec 15.

Departments of Pediatrics, Neurological Sciences, Biochemistry, Rush University Medical Center, Chicago, IL 60612, USA.

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http://dx.doi.org/10.3390/brainsci8120224DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6315698PMC
December 2018

Parents' initial concerns about the development of their children later diagnosed with fragile X syndrome.

J Intellect Dev Disabil 2017 18;42(2):114-122. Epub 2016 Sep 18.

Institute of Physiology, Research Unit iDN - interdisciplinary Developmental Neuroscience, Medical University of Graz, Austria.

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http://dx.doi.org/10.3109/13668250.2016.1228858DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5985965PMC
August 2018

Identification of 22q13 genes most likely to contribute to Phelan McDermid syndrome.

Eur J Hum Genet 2018 03 22;26(3):293-302. Epub 2018 Jan 22.

Neurodevelopmental and Behavioral Phenotyping Service, Office of the Clinical Director, National Institute of Mental Health, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1038/s41431-017-0042-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5838980PMC
March 2018

Adapting the Mullen Scales of Early Learning for a Standardized Measure of Development in Children With Rett Syndrome.

Intellect Dev Disabil 2017 12;55(6):419-431

Tessa Clarkson, Jocelyn LeBlanc, Geneva DeGregorio, Vanessa Vogel-Farley, and Katherine Barnes, Boston Children's Hospital, MA; Walter E. Kaufmann, Boston Children's Hospital, MA and Harvard Medical School, Boston, MA; and Charles A. Nelson, Boston Children's Hospital, Harvard Medical School, Boston, and Harvard Graduate School of Education, Boston, MA.

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http://dx.doi.org/10.1352/1934-9556-55.6.419DOI Listing
December 2017

Defining Hand Stereotypies in Rett Syndrome: A Movement Disorders Perspective.

Pediatr Neurol 2017 Oct 2;75:91-95. Epub 2017 Jun 2.

Department of Neurology, Boston Children's Hospital, Boston, Massachusetts; Harvard Medical School, Boston, Massachusetts; Center for Translational Research, Greenwood Genetic Center, Greenville, South Carolina.

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http://dx.doi.org/10.1016/j.pediatrneurol.2017.05.025DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5624791PMC
October 2017

Arbaclofen in fragile X syndrome: results of phase 3 trials.

J Neurodev Disord 2017 12;9. Epub 2017 Jun 12.

The Picower Institute for Learning and Memory, Massachusetts Institute of Technology, 43 Vassar Street, 46-3301, Cambridge, MA 02139, USA.

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http://dx.doi.org/10.1186/s11689-016-9181-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5467054PMC
June 2017

Updated report on tools to measure outcomes of clinical trials in fragile X syndrome.

J Neurodev Disord 2017 12;9:14. Epub 2017 Jun 12.

Center for Translational Research, Greenwood Genetic Center, 113 Gregor Mendel Circle, Greenwood, SC 29646 USA.

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http://dx.doi.org/10.1186/s11689-017-9193-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5467057PMC
June 2017

FORWARD: A Registry and Longitudinal Clinical Database to Study Fragile X Syndrome.

Pediatrics 2017 Jun;139(Suppl 3):S183-S193

Department of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York.

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http://dx.doi.org/10.1542/peds.2016-1159EDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5621599PMC
June 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

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

Detecting autonomic response to pain in Rett syndrome.

Dev Neurorehabil 2017 Feb 12;20(2):108-114. Epub 2015 Oct 12.

a Department of Neurology , Boston Children's Hospital and Harvard Medical School , Boston , MA , USA.

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https://www.tandfonline.com/doi/full/10.3109/17518423.2015.1
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http://dx.doi.org/10.3109/17518423.2015.1087437DOI Listing
February 2017

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

Neurogenetics in Child Neurology: Redefining a Discipline in the Twenty-first Century.

Curr Neurol Neurosci Rep 2016 12;16(12):103

Center for Translational Research, Greenwood Genetic Center & Department of Neurology, Boston Children's Center, 113 Gregor Mendel Circle, Greenwood, SC, 29646, USA.

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http://dx.doi.org/10.1007/s11910-016-0703-0DOI Listing
December 2016

Neurobiologically-based treatments in Rett syndrome: opportunities and challenges.

Expert Opin Orphan Drugs 2016 Oct 10;4(10):1043-1055. Epub 2016 Sep 10.

Center for Translational Research, Greenwood Genetic Center , Greenwood , SC , USA.

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https://www.tandfonline.com/doi/full/10.1080/21678707.2016.1
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http://dx.doi.org/10.1080/21678707.2016.1229181DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5214376PMC
October 2016

Gray matter maturation and cognition in children with different APOE ε genotypes.

Neurology 2016 Aug 13;87(6):585-94. Epub 2016 Jul 13.

From the Department of Medicine (L.C., V.D., K.L., A.P., T.E.), John A. Burns School of Medicine, University of Hawaii and The Queen's Medical Center, Honolulu; Department of Psychiatry, School of Medicine (C.B.), Departments of Psychiatry and Cognitive Science (T.L.J., N.A.), and Department of Pathology (S.S.M.), University of California San Diego, La Jolla; Department of Psychiatry (J.F., D.N.K.), University of Massachusetts Medical School, Boston; Department of Psychiatry and Behavioral Sciences (D.G.A.), University of California, Davis; Departments of Pediatrics and Investigative Medicine (J.G.), Yale Child Health Research Center, Yale University School of Medicine, New Haven, CT; Boston Children's Hospital (W.E.K.), Harvard Medical School, Boston, MA; Sackler Institute for Developmental Psychobiology (B.J.C.), Weil Cornell Medical College, New York, NY; Department of Pediatrics (E.S.), University of Southern California, Los Angeles; and Children's Hospital (E.S.), Los Angeles, CA.

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http://www.neurology.org/content/early/2016/07/13/WNL.000000
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http://dx.doi.org/10.1212/WNL.0000000000002939DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4977368PMC
August 2016

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

The Pediatric Imaging, Neurocognition, and Genetics (PING) Data Repository.

Neuroimage 2016 Jan 1;124(Pt B):1149-1154. Epub 2015 May 1.

Department of Cognitive Science, University of California, San Diego, La Jolla, CA, USA; Multimodal Imaging Laboratory, University of California, San Diego, La Jolla, CA, USA; Department of Neurosciences, University of California, San Diego, La Jolla, CA, USA; Department of Radiology, University of California, San Diego, La Jolla, CA, USA.

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http://dx.doi.org/10.1016/j.neuroimage.2015.04.057DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4628902PMC
January 2016

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

Visual evoked potentials detect cortical processing deficits in Rett syndrome.

Ann Neurol 2015 Nov 18;78(5):775-86. Epub 2015 Sep 18.

Laboratories of Cognitive Neuroscience, Division of Developmental Medicine, Boston Children's Hospital, Boston.

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http://dx.doi.org/10.1002/ana.24513DOI Listing
November 2015

Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome.

Am J Med Genet A 2015 Sep 25;167A(9):2017-25. Epub 2015 Apr 25.

Epilepsy Genetics Program, Division of Epilepsy & Clinical Neurophysiology, Boston Children's Hospital, Boston, Massachusetts.

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http://dx.doi.org/10.1002/ajmg.a.37132DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5722031PMC
September 2015

Anxiety-like behavior in Rett syndrome: characteristics and assessment by anxiety scales.

J Neurodev Disord 2015 15;7(1):30. Epub 2015 Sep 15.

Department of Neurology, Boston Children's Hospital, Boston, MA 02115 USA ; Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115 USA.

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http://dx.doi.org/10.1186/s11689-015-9127-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4571061PMC
September 2015

Autism spectrum disorder in Phelan-McDermid syndrome: initial characterization and genotype-phenotype correlations.

Orphanet J Rare Dis 2015 Aug 27;10:105. Epub 2015 Aug 27.

Department of Neurology, Boston Children's Hospital, and Harvard Medical School, 300 Longwood Avenue, Boston, MA, 02115, USA.

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http://dx.doi.org/10.1186/s13023-015-0323-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4549933PMC
August 2015

Methyl CpG binding protein 2 deficiency enhances expression of inflammatory cytokines by sustaining NF-κB signaling in myeloid derived cells.

J Neuroimmunol 2015 Jun 9;283:23-9. Epub 2015 Apr 9.

Hugo Moser Institute at the Kennedy Krieger, United States; Department of Environmental Health Sciences, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, MD, United States. Electronic address:

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http://dx.doi.org/10.1016/j.jneuroim.2015.04.005DOI Listing
June 2015

Family income, parental education and brain structure in children and adolescents.

Nat Neurosci 2015 May 30;18(5):773-8. Epub 2015 Mar 30.

1] The Saban Research Institute of Children's Hospital, Los Angeles, California, USA. [2] Department of Pediatrics of the Keck School of Medicine, University of Southern California, Los Angeles, California, USA. [3] The Pediatric Imaging, Neurocognition, and Genetics Study, San Diego, California, USA.

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http://www.columbia.edu/cu/needlab/Publications/PING%20Natur
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http://www.nature.com/doifinder/10.1038/nn.3983
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http://dx.doi.org/10.1038/nn.3983DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4414816PMC
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

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

En route to disentangle the impact and neurobiological substrates of early vocalizations: learning from Rett syndrome.

Behav Brain Sci 2014 Dec;37(6):562-3; discussion 577-604

Institute of Physiology,Research Unit iDN - Interdisciplinary Developmental Neuroscience,Medical University of Graz Austria,8010

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http://dx.doi.org/10.1017/S0140525X1300410XDOI Listing
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

Automated MRI parcellation of the frontal lobe.

Hum Brain Mapp 2014 May 29;35(5):2009-26. Epub 2013 Jul 29.

Kennedy Krieger Institute, Laboratory for Neurocognitive Imaging and Research, Baltimore, Maryland.

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http://dx.doi.org/10.1002/hbm.22309DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4034317PMC
May 2014

Autism and anxiety in males with fragile X syndrome: an exploratory analysis of neurobehavioral profiles from a parent survey.

Am J Med Genet A 2014 May 24;164A(5):1198-203. Epub 2014 Mar 24.

Center for Genetic Disorders of Cognition and Behavior, Kennedy Krieger Institute and Johns Hopkins University School of Medicine, Baltimore, Maryland.

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http://dx.doi.org/10.1002/ajmg.a.36468DOI Listing
May 2014

Development of socio-communicative skills in 9- to 12-month-old individuals with fragile X syndrome.

Res Dev Disabil 2014 Mar 27;35(3):597-602. Epub 2014 Jan 27.

Boston Children's Hospital and Harvard Medical School, Boston, USA.

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http://dx.doi.org/10.1016/j.ridd.2014.01.004DOI Listing
March 2014

MeCP2 deficiency enhances glutamate release through NF-κB signaling in myeloid derived cells.

J Neuroimmunol 2013 Dec 12;265(1-2):61-7. Epub 2013 Sep 12.

Hugo Moser Institute at the Kennedy Krieger, USA; Department of Environmental Health Sciences, Bloomberg School of Public Health, Johns Hopkins University, USA.

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http://dx.doi.org/10.1016/j.jneuroim.2013.09.002DOI Listing
December 2013

Early socio-communicative forms and functions in typical Rett syndrome.

Res Dev Disabil 2013 Oct 24;34(10):3133-8. Epub 2013 Jul 24.

Institute of Physiology (Research Unit iDN-interdisciplinary Developmental Neuroscience; IN:spired), Center for Physiological Medicine, Medical University of Graz, Austria.

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http://dx.doi.org/10.1016/j.ridd.2013.06.040DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5951273PMC
October 2013

Changing the perspective on early development of Rett syndrome.

Res Dev Disabil 2013 Apr 9;34(4):1236-9. Epub 2013 Feb 9.

Center for Genetic Disorders of Cognition and Behavior, Kennedy Krieger Institute, Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, USA.

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http://dx.doi.org/10.1016/j.ridd.2013.01.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3605580PMC
April 2013

Peculiarities in the gestural repertoire: an early marker for Rett syndrome?

Res Dev Disabil 2012 Nov-Dec;33(6):1715-21. Epub 2012 Jun 13.

Institute of Physiology (Developmental Physiology and Developmental Neuroscience; IN:spired), Center for Physiological Medicine, Medical University of Graz, Austria.

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http://dx.doi.org/10.1016/j.ridd.2012.05.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3445810PMC
March 2013

Profiling early socio-communicative development in five young girls with the preserved speech variant of Rett syndrome.

Res Dev Disabil 2012 Nov-Dec;33(6):1749-56. Epub 2012 Jun 13.

Institute of Physiology (Developmental Physiology and Developmental Neuroscience; IN:spired), Center for Physiological Medicine, Medical University of Graz, Austria.

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https://linkinghub.elsevier.com/retrieve/pii/S08914222120010
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http://dx.doi.org/10.1016/j.ridd.2012.04.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3445809PMC
March 2013

Relationship between Mecp2 and NFκb signaling during neural differentiation of P19 cells.

Brain Res 2013 Jan 2;1490:35-42. Epub 2012 Nov 2.

Hugo Moser Institute at the Kennedy Krieger, United States.

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http://dx.doi.org/10.1016/j.brainres.2012.10.041DOI Listing
January 2013

Parent report of community psychiatric comorbid diagnoses in autism spectrum disorders.

Autism Res Treat 2011 18;2011:405849. Epub 2011 Aug 18.

Department of Medical Informatics, Kennedy Krieger Institute, Painter Building, First Floor, 3825 Greenspring Avenue, Baltimore, MD 21211, USA.

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http://dx.doi.org/10.1155/2011/405849DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3420588PMC
August 2012

Psychometric study of the Aberrant Behavior Checklist in Fragile X Syndrome and implications for targeted treatment.

J Autism Dev Disord 2012 Jul;42(7):1377-92

Medical Investigation of Neurodevelopmental Disorders Institute, University of California Davis Medical Center, 2825 50th Street, Sacramento, CA 95817, USA.

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http://dx.doi.org/10.1007/s10803-011-1370-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3290710PMC
July 2012

What can we learn about autism from studying fragile X syndrome?

Dev Neurosci 2011 1;33(5):379-94. Epub 2011 Sep 1.

Center for Genetic Disorders of Cognition and Behavior, Kennedy Krieger Institute, Baltimore, MD 21205, USA.

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http://dx.doi.org/10.1159/000330213DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3254037PMC
April 2012

Commentary from the DSM-5 Workgroup on Neurodevelopmental Disorders.

J Am Acad Child Adolesc Psychiatry 2012 Apr;51(4):347-9

American Psychiatric Association DSM-5 Neurodevelopmental Disorders Workgroup.

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http://dx.doi.org/10.1016/j.jaac.2012.02.013DOI Listing
April 2012

Association of common genetic variants in GPCPD1 with scaling of visual cortical surface area in humans.

Authors:
Trygve E Bakken J Cooper Roddey Srdjan Djurovic Natacha Akshoomoff David G Amaral Cinnamon S Bloss B J Casey Linda Chang Thomas M Ernst Jeffrey R Gruen Terry L Jernigan Walter E Kaufmann Tal Kenet David N Kennedy Joshua M Kuperman Sarah S Murray Elizabeth R Sowell Lars M Rimol Morten Mattingsdal Ingrid Melle Ingrid Agartz Ole A Andreassen Nicholas J Schork Anders M Dale Michael Weiner Paul Aisen Ronald Petersen Clifford R Jack William Jagust John Q Trojanowki Arthur W Toga Laurel Beckett Robert C Green Andrew J Saykin John Morris Enchi Liu Tom Montine Anthony Gamst Ronald G Thomas Michael Donohue Sarah Walter Devon Gessert Tamie Sather Danielle Harvey John Kornak Anders Dale Matthew Bernstein Joel Felmlee Nick Fox Paul Thompson Norbert Schuff Gene Alexander Charles DeCarli Dan Bandy Robert A Koeppe Norm Foster Eric M Reiman Kewei Chen Chet Mathis Nigel J Cairns Lisa Taylor-Reinwald J Q Trojanowki Les Shaw Virginia M Y Lee Magdalena Korecka Karen Crawford Scott Neu Tatiana M Foroud Steven Potkin Li Shen Zaven Kachaturian Richard Frank Peter J Snyder Susan Molchan Jeffrey Kaye Joseph Quinn Betty Lind Sara Dolen Lon S Schneider Sonia Pawluczyk Bryan M Spann James Brewer Helen Vanderswag Judith L Heidebrink Joanne L Lord Kris Johnson Rachelle S Doody Javier Villanueva-Meyer Munir Chowdhury Yaakov Stern Lawrence S Honig Karen L Bell John C Morris Beau Ances Maria Carroll Sue Leon Mark A Mintun Stacy Schneider Daniel Marson Randall Griffith David Clark Hillel Grossman Effie Mitsis Aliza Romirowsky Leyla deToledo-Morrell Raj C Shah Ranjan Duara Daniel Varon Peggy Roberts Marilyn Albert Chiadi Onyike Stephanie Kielb Henry Rusinek Mony J de Leon Lidia Glodzik Susan De Santi P Murali Doraiswamy Jeffrey R Petrella R Edward Coleman Steven E Arnold Jason H Karlawish David Wolk Charles D Smith Greg Jicha Peter Hardy Oscar L Lopez MaryAnn Oakley Donna M Simpson Anton P Porsteinsson Bonnie S Goldstein Kim Martin Kelly M Makino M Saleem Ismail Connie Brand Ruth A Mulnard Gaby Thai Catherine Mc-Adams-Ortiz Kyle Womack Dana Mathews Mary Quiceno Ramon Diaz-Arrastia Richard King Myron Weiner Kristen Martin-Cook Michael DeVous Allan I Levey James J Lah Janet S Cellar Jeffrey M Burns Heather S Anderson Russell H Swerdlow Liana Apostolova Po H Lu George Bartzokis Daniel H S Silverman Neill R Graff-Radford Francine Parfitt Heather Johnson Martin R Farlow Ann Marie Hake Brandy R Matthews Scott Herring Christopher H van Dyck Richard E Carson Martha G MacAvoy Howard Chertkow Howard Bergman Chris Hosein Sandra Black Bojana Stefanovic Curtis Caldwell Ging-Yuek Robin Hsiung Howard Feldman Benita Mudge Michele Assaly Andrew Kertesz John Rogers Dick Trost Charles Bernick Donna Munic Diana Kerwin Marek-Marsel Mesulam Kristina Lipowski Chuang-Kuo Wu Nancy Johnson Carl Sadowsky Walter Martinez Teresa Villena Raymond Scott Turner Kathleen Johnson Brigid Reynolds Reisa A Sperling Keith A Johnson Gad Marshall Meghan Frey Jerome Yesavage Joy L Taylor Barton Lane Allyson Rosen Jared Tinklenberg Marwan Sabbagh Christine Belden Sandra Jacobson Neil Kowall Ronald Killiany Andrew E Budson Alexander Norbash Patricia Lynn Johnson Thomas O Obisesan Saba Wolday Salome K Bwayo Alan Lerner Leon Hudson Paula Ogrocki Evan Fletcher Owen Carmichael John Olichney Smita Kittur Michael Borrie T-Y Lee Rob Bartha Sterling Johnson Sanjay Asthana Cynthia M Carlsson Steven G Potkin Adrian Preda Dana Nguyen Pierre Tariot Adam Fleisher Stephanie Reeder Vernice Bates Horacio Capote Michelle Rainka Douglas W Scharre Maria Kataki Earl A Zimmerman Dzintra Celmins Alice D Brown Godfrey D Pearlson Karen Blank Karen Anderson Robert B Santulli Eben S Schwartz Kaycee M Sink Jeff D Williamson Pradeep Garg Franklin Watkins Brian R Ott Henry Querfurth Geoffrey Tremont Stephen Salloway Paul Malloy Stephen Correia Howard J Rosen Bruce L Miller Jacobo Mintzer Crystal Flynn Longmire Kenneth Spicer Elizabether Finger Irina Rachinsky Dick Drost Terry Jernigan Connor McCabe Ellen Grant Thomas Ernst Josh Kuperman Yoon Chung Sarah Murray Cinnamon Bloss Burcu Darst Lexi Pritchett Ashley Saito David Amaral Mishaela DiNino Bella Eyngorina Elizabeth Sowell Suzanne Houston Lindsay Soderberg Walter Kaufmann Peter van Zijl Hilda Rizzo-Busack Mohsin Javid Natasha Mehta Erika Ruberry Alisa Powers Bruce Rosen Nitzah Gebhard Holly Manigan Jean Frazier David Kennedy Lauren Yakutis Michael Hill Jeffrey Gruen Joan Bosson-Heenan Heatherly Carlson

Proc Natl Acad Sci U S A 2012 Mar 16;109(10):3985-90. Epub 2012 Feb 16.

Medical Scientist Training Program, University of California at San Diego, La Jolla, CA 92093, USA.

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http://dx.doi.org/10.1177/0883073811402688DOI Listing
October 2011

Temporal and regional alterations in NMDA receptor expression in Mecp2-null mice.

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αB-crystallin negative astrocytic inclusions.

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http://dx.doi.org/10.1016/j.braindev.2010.06.013DOI Listing
April 2011

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http://dx.doi.org/10.1111/j.1469-8749.2010.03838.xDOI Listing
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http://dx.doi.org/10.1177/0883073810381920DOI Listing
March 2011

Brain derived neurotrophic factor and serotonin transporter binding as markers of clinical response to fluoxetine therapy in children with autism.

J Pediatr Neurol 2011 Mar;9(1):1-8

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January 2011

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http://dx.doi.org/10.1002/ajmg.c.30277DOI Listing
November 2010

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Dev Med Child Neurol 2010 Sep 19;52(9):817-23. Epub 2010 Mar 19.

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http://dx.doi.org/10.1111/j.1469-8749.2010.03636.xDOI Listing
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Department of Developmental Cognitive Neurology, Kennedy Krieger Institute, 707 N Broadway, Baltimore, MD 21205, USA.

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http://dx.doi.org/10.1016/j.cortex.2009.07.008DOI Listing
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http://doi.wiley.com/10.1002/mds.22851
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February 2010

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Department of Psychology, Barnwell College University of South Carolina, Columbia, SC, USA.

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http://dx.doi.org/10.1007/s11689-009-9028-5DOI Listing
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Arch Pediatr Adolesc Med 2009 Oct;163(10):907-14

Department of Medical Informatics, Kennedy Krieger Institute, Baltimore, MD 21211, USA.

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http://dx.doi.org/10.1001/archpediatrics.2009.98DOI Listing
October 2009

Trends in autism spectrum disorder diagnoses: 1994-2007.

J Autism Dev Disord 2009 Aug 18;39(8):1099-111. Epub 2009 Mar 18.

Department of Medical Informatics, Kennedy Krieger Institute, Johns Hopkins Medical Institutions, Baltimore, MD, USA.

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http://dx.doi.org/10.1007/s10803-009-0723-6DOI Listing
August 2009

A dual DTI approach to analyzing white matter in children with dyslexia.

Psychiatry Res 2009 Jun 5;172(3):215-9. Epub 2009 Apr 5.

Center for Genetic Disorders of Cognition & Behavior, Kennedy Krieger Institute, Baltimore, MD, United States.

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http://dx.doi.org/10.1016/j.pscychresns.2008.09.005DOI Listing
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Laboratory for Neurocognitive Imaging and Research, Kennedy Krieger Institute, Baltimore, MD 21211, USA.

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Brain metabolism in Rett syndrome: age, clinical, and genotype correlations.

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http://doi.wiley.com/10.1002/ana.21562
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April 2008