Elizabeth Berry-Kravis

Elizabeth Berry-Kravis

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Elizabeth Berry-Kravis

Elizabeth Berry-Kravis

Publications by authors named "Elizabeth Berry-Kravis"

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Inhibition deficits are modulated by age and CGG repeat length in carriers of the FMR1 premutation allele who are mothers of children with fragile X syndrome.

Brain Cogn 2020 Mar 27;139:105511. Epub 2019 Dec 27.

Waisman Center, University of Wisconsin-Madison, 1500 Highland Ave, Madison, WI 53705, USA. Electronic address:

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http://dx.doi.org/10.1016/j.bandc.2019.105511DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6954879PMC
March 2020

Physiological regulation and social-emotional processing in female carriers of the FMR1 premutation.

Physiol Behav 2020 Feb 22;214:112746. Epub 2019 Nov 22.

Roxelyn and Richard Pepper Department of Communication Sciences and Disorders, Northwestern University, Frances Searle Building, 2240 Campus Drive, Evanston IL 60208, United States. Electronic address:

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http://dx.doi.org/10.1016/j.physbeh.2019.112746DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6992413PMC
February 2020

Neurodevelopmental Characterization of Young Children Diagnosed with Niemann-Pick Disease, Type C1.

J Dev Behav Pediatr 2020 Feb 17. Epub 2020 Feb 17.

Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, NIH, DHHS, Bethesda, MD.

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http://dx.doi.org/10.1097/DBP.0000000000000785DOI Listing
February 2020

Validation of the NIH Toolbox Cognitive Battery in intellectual disability.

Neurology 2020 Feb 24. Epub 2020 Feb 24.

From the University of California Davis Medical Center (R.H.S.); Human Development Graduate Group (R.H.S.), University of California Davis, Sacramento; Feinberg School of Medicine (A.J.K., R.C.G.), Northwestern University, Chicago, IL; MIND Institute and Department of Psychiatry and Behavioral Sciences (F.J.M., A.D., S.M.S., D.H.), University of California Davis Medical Center, Sacramento; Morgridge College of Education (J.C., K.R.), University of Denver, CO; Departments of Pediatrics (C.M., E.B.-K.) Neurological Sciences (E.B.-K.), and Biochemistry (E.B.-K.), Rush University Medical Center, Chicago, IL; and Graduate School of Education (K.F.W.), University of California, Riverside.

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http://dx.doi.org/10.1212/WNL.0000000000009131DOI Listing
February 2020

Neuropsychiatric decompensation in adolescents and adults with Phelan-McDermid syndrome: a systematic review of the literature.

Mol Autism 2019 24;10:50. Epub 2019 Dec 24.

6Sorbonne Université, INSERM, CNRS, Neuroscience Paris Seine, Institut de Biologie Paris Seine, Paris, France.

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http://dx.doi.org/10.1186/s13229-019-0291-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6930682PMC
December 2019

Preventive care services and health behaviors in children with fragile X syndrome.

Disabil Health J 2019 10 3;12(4):564-573. Epub 2019 May 3.

National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, 4770 Buford Highway NE, Atlanta, GA, 30341, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S19366574193006
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http://dx.doi.org/10.1016/j.dhjo.2019.04.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6778488PMC
October 2019

Vocabulary comprehension in adults with fragile X syndrome (FXS).

J Neurodev Disord 2019 Oct 16;11(1):25. Epub 2019 Oct 16.

Departments of Pediatrics, Neurological Sciences and Biochemistry, Rush University, 1725 W. Harrison Street, Suite 710, Chicago, IL, 60612, USA.

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http://dx.doi.org/10.1186/s11689-019-9285-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6796341PMC
October 2019

Emerging pharmacological therapies in fragile X syndrome and autism.

Curr Opin Neurol 2019 08;32(4):635-640

Department of Pediatrics, Neurological Sciences, Biochemistry, Rush University Medical Center, Chicago, Illinois, USA.

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http://dx.doi.org/10.1097/WCO.0000000000000703DOI Listing
August 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

Congenital central hypoventilation syndrome: Severe disease caused by co-occurrence of two PHOX2B variants inherited separately from asymptomatic family members.

Am J Med Genet A 2019 03 23;179(3):503-506. Epub 2019 Jan 23.

Division of Pediatric Autonomic Medicine, Ann & Robert H. Lurie Children's Hospital of Chicago and Stanley Manne Children's Research Institute, Chicago, Illinois.

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http://dx.doi.org/10.1002/ajmg.a.61047DOI Listing
March 2019

Expression and Characterization of Human Fragile X Mental Retardation Protein Isoforms and Interacting Proteins in Human Cells.

Proteomics Insights 2019 3;10:1178641818825268. Epub 2019 Mar 3.

Department of Preventive Medicine, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.

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http://dx.doi.org/10.1177/1178641818825268DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6399764PMC
March 2019

Diagnosis of niemann-pick C1 by measurement of bile acid biomarkers in archived newborn dried blood spots.

Mol Genet Metab 2019 02 24;126(2):183-187. Epub 2018 Aug 24.

Diabetic Cardiovascular Disease Center, Washington University School of Medicine, St. Louis, MO 63110, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2018.08.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6365165PMC
February 2019

Clinimetric Properties of the Fragile X-associated Tremor Ataxia Syndrome Rating Scale.

Mov Disord Clin Pract 2019 Feb 22;6(2):120-124. Epub 2019 Jan 22.

Department of Neurology University of Colorado School of Medicine Aurora Colorado United States.

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http://doi.wiley.com/10.1002/mdc3.12708
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http://dx.doi.org/10.1002/mdc3.12708DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6384171PMC
February 2019

Volumetric Analysis of the Basal Ganglia and Cerebellar Structures in Patients with Phelan-McDermid Syndrome.

Pediatr Neurol 2019 01 21;90:37-43. Epub 2018 Sep 21.

Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S08878994183067
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http://dx.doi.org/10.1016/j.pediatrneurol.2018.09.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6309632PMC
January 2019

Voice of People with Fragile X Syndrome and Their Families: Reports from a Survey on Treatment Priorities.

Brain Sci 2019 Jan 23;9(2). Epub 2019 Jan 23.

Cincinnati Children's Hospital Medical Center, Division of Child & Adolescent Psychiatry and the University of Cincinnati College of Medicine Department of Psychiatry and Behavioral Neuroscience, Cincinnati, OH 45229, USA.

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http://www.mdpi.com/2076-3425/9/2/18
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http://dx.doi.org/10.3390/brainsci9020018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6406416PMC
January 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

splice variant: A predictor of fragile X-associated tremor/ataxia syndrome.

Neurol Genet 2018 Aug 27;4(4):e246. Epub 2018 Jul 27.

Department of Neurosciences (P.V.), Northwestern Medicine Regional Medical Group, Winfield, IL; the Department of Bioengineering (S.P.), University of Illinois at Chicago; the Department of Pediatrics, Neurological Sciences, Biochemistry (K.S., E.B.-K., L.Z., J.J.), and the Department of Neurological Sciences (B.O., D.A.H.), Rush University Medical Center, Chicago, IL.

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http://dx.doi.org/10.1212/NXG.0000000000000246DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6066363PMC
August 2018

Fragile X syndrome and fragile X-associated tremor ataxia syndrome.

Handb Clin Neurol 2018 ;147:377-391

Department of Neurological Sciences, Rush University, Chicago, IL, United States; Department of Pediatrics and Biochemistry, Rush University, Chicago, IL, United States.

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http://dx.doi.org/10.1016/B978-0-444-63233-3.00025-7DOI Listing
July 2018

Long-Term Treatment of Niemann-Pick Type C1 Disease With Intrathecal 2-Hydroxypropyl-β-Cyclodextrin.

Pediatr Neurol 2018 03 8;80:24-34. Epub 2018 Jan 8.

Department of Neurological Sciences, Rush University Medical Center, Chicago, Illinois; Department of Cell and Molecular Medicine, Rush University Medical Center, Chicago, Illinois.

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http://dx.doi.org/10.1016/j.pediatrneurol.2017.12.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5857219PMC
March 2018

Fragile X syndrome.

Nat Rev Dis Primers 2017 Sep 29;3:17065. Epub 2017 Sep 29.

MIND Institute, UC Davis Health, University of California, Davis, 2826 50th Street, Sacramento, California 95817, USA.

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http://dx.doi.org/10.1038/nrdp.2017.65DOI Listing
September 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

The Future of Fragile X Syndrome: CDC Stakeholder Meeting Summary.

Pediatrics 2017 06;139(Suppl 3):S147-S152

National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia;

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http://dx.doi.org/10.1542/peds.2016-1159BDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5592737PMC
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

Fragile X Newborn Screening: Lessons Learned From a Multisite Screening Study.

Pediatrics 2017 Jun;139(Suppl 3):S216-S225

Center for Newborn Screening, Ethics, and Disability Studies, RTI International, Research Triangle Park, North Carolina.

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http://dx.doi.org/10.1542/peds.2016-1159HDOI Listing
June 2017

Erratum to: A developmental, longitudinal investigation of autism phenotypic profiles in fragile X syndrome.

J Neurodev Disord 2017 6;9:10. Epub 2017 Mar 6.

Department of Communication Sciences and Disorders, Northwestern University, Evanston, IL USA.

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http://dx.doi.org/10.1186/s11689-017-9192-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5338095PMC
March 2017

Clinicians' experiences with the fragile X clinical and research consortium.

Am J Med Genet A 2016 12 8;170(12):3138-3143. Epub 2016 Sep 8.

National Fragile X Foundation, Washington, District of Columbia.

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http://dx.doi.org/10.1002/ajmg.a.37948DOI Listing
December 2016

Importance of a specialty clinic for individuals with fragile X syndrome.

Am J Med Genet A 2016 12 20;170(12):3144-3149. Epub 2016 Sep 20.

Departments of Pediatrics, Neurological Sciences, and Biochemistry, Rush University Medical Center, Chicago, Illinois.

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http://dx.doi.org/10.1002/ajmg.a.37982DOI Listing
December 2016

Treatment of Neurogenetic Developmental Conditions: From 2016 into the Future.

Pediatr Neurol 2016 12 26;65:1-13. Epub 2016 Jul 26.

Department of Pediatrics, Rush University Medical Center, Chicago, Illinois; Department of Neurological Sciences, Rush University Medical Center, Chicago, Illinois; Department of Biochemistry, Rush University Medical Center, Chicago, Illinois. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2016.07.010DOI Listing
December 2016

A developmental, longitudinal investigation of autism phenotypic profiles in fragile X syndrome.

J Neurodev Disord 2016 30;8:47. Epub 2016 Dec 30.

Department of Communication Sciences and Disorders, Northwestern University, Evanston, IL USA.

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http://dx.doi.org/10.1186/s11689-016-9179-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5203725PMC
December 2016

Developmental profiles of infants with an premutation.

J Neurodev Disord 2016 3;8:40. Epub 2016 Nov 3.

RTI International, 3040 E. Cornwallis Road, P.O. Box 12194, Research Triangle Park, NC 27709 USA.

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http://dx.doi.org/10.1186/s11689-016-9171-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5095966PMC
November 2016

The Corpus Callosum Splenium Sign in Fragile X-Associated Tremor Ataxia Syndrome.

Mov Disord Clin Pract 2017 May-Jun;4(3):383-388. Epub 2016 Nov 16.

Department of Radiology Rush University Chicago Illinois USA.

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http://dx.doi.org/10.1002/mdc3.12449DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6174407PMC
November 2016

Clinical Phenotype of Adult Fragile X Gray Zone Allele Carriers: a Case Series.

Cerebellum 2016 10;15(5):623-31

Department of Neurological Sciences, Rush University, 1725 West Harrison Street, Suite 755, Chicago, IL, 60612, USA.

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http://dx.doi.org/10.1007/s12311-016-0809-6DOI Listing
October 2016

Gait and Functional Mobility Deficits in Fragile X-Associated Tremor/Ataxia Syndrome.

Cerebellum 2016 08;15(4):475-82

Department of Neurological Sciences, Rush University Medical Center, Chicago, IL, USA.

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http://link.springer.com/10.1007/s12311-015-0714-4
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http://dx.doi.org/10.1007/s12311-015-0714-4DOI Listing
August 2016

Congenital Central Hypoventilation Syndrome: Neurocognition Already Reduced in Preschool-Aged Children.

Chest 2016 Mar 12;149(3):809-15. Epub 2016 Jan 12.

Center for Autonomic Medicine in Pediatrics, Department of Pediatrics, Ann & Robert H. Lurie Children's Hospital of Chicago and The Stanley Manne Children's Research Institute, Chicago, IL; Northwestern University Feinberg School of Medicine, Chicago, IL.

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https://linkinghub.elsevier.com/retrieve/pii/S00123692150001
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http://dx.doi.org/10.1378/chest.15-0402DOI Listing
March 2016

Cognitive trajectories in rare neurogenetic diseases: minding the gaps and filling the potholes.

Dev Med Child Neurol 2016 Mar 12;58(3):221-2. Epub 2016 Jan 12.

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

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http://dx.doi.org/10.1111/dmcn.13018DOI Listing
March 2016

X-inactivation in the clinical phenotype of fragile X premutation carrier sisters.

Neurol Genet 2016 Feb 3;2(1):e45. Epub 2016 Feb 3.

Department of Neurological Sciences (D.A.H., E.B.-K.), Department of Anatomy and Cell Biology (E.E.R.-D., J.A.O.), Department of Biochemistry (L.Z., E.B.-K.), and Department of Pediatrics (E.B.-K.), Rush University, Chicago, IL; and Asuragen, Inc. (A.G.H.), Austin, TX.

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http://dx.doi.org/10.1212/NXG.0000000000000045DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4817899PMC
February 2016

Absence of mutations in HCRT, HCRTR1 and HCRTR2 in patients with ROHHAD.

Respir Physiol Neurobiol 2016 Jan 10;221:59-63. Epub 2015 Nov 10.

Center for Autonomic Medicine in Pediatrics (CAMP) in Stanley Manne Children's Research Institute and in Department of Pediatrics, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA; Northwestern University Feinberg School of Medicine, Chicago, IL, USA. Electronic address:

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http://dx.doi.org/10.1016/j.resp.2015.11.002DOI Listing
January 2016

Improving IQ measurement in intellectual disabilities using true deviation from population norms.

J Neurodev Disord 2014 8;6(1):16. Epub 2014 Jul 8.

Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California at Davis Medical Center, 2825 50th Street, Sacramento, CA 95817, USA ; Department of Psychiatry and Behavioral Sciences, University of California, Davis, School of Medicine, Sacramento, CA, USA.

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http://dx.doi.org/10.1186/1866-1955-6-16DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4613563PMC
October 2015

BCAP31 Mutation Causing a Syndrome of Congenital Dystonia, Facial Dysorphism and Central Hypomyelination Discovered Using Exome Sequencing.

Mov Disord Clin Pract 2016 Mar-Apr;3(2):197-199. Epub 2015 Oct 28.

Department of Pediatrics, Neurological Sciences, Biochemistry Rush University Medical Center Chicago Illinois USA.

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http://dx.doi.org/10.1002/mdc3.12250DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6353445PMC
October 2015

Maternal Consequences of the Detection of Fragile X Carriers in Newborn Screening.

Pediatrics 2015 Aug 13;136(2):e433-40. Epub 2015 Jul 13.

Frank Porter Graham Child Development Institute, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina.

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http://pediatrics.aappublications.org/cgi/doi/10.1542/peds.2
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http://dx.doi.org/10.1542/peds.2015-0414DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4516945PMC
August 2015

Therapeutic Strategies in Fragile X Syndrome: From Bench to Bedside and Back.

Neurotherapeutics 2015 Jul;12(3):584-608

Division of Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, 45229, USA.

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http://link.springer.com/10.1007/s13311-015-0355-9
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http://dx.doi.org/10.1007/s13311-015-0355-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4489963PMC
July 2015

White matter disease and cognitive impairment in FMR1 premutation carriers.

Neurology 2015 May 29;84(21):2146-52. Epub 2015 Apr 29.

From the Departments of Neurology (C.M.F.), Psychiatry (C.M.F.), Radiology (M.S.B.), and Medicine (R.E.B., J.G.), University of Colorado School of Medicine; Department of Psychology (K.O., M.R., J.G.), University of Colorado Denver; Denver Veterans Affairs Medical Center (C.M.F.), CO; and Departments of Neurological Sciences (E.B.-K.), Pediatrics (E.B.-K.), and Biochemistry (E.B.-K.), Rush University Medical Center, Chicago, IL.

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http://dx.doi.org/10.1212/WNL.0000000000001612DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4451047PMC
May 2015

Activation of peroxisome proliferator-activated receptor α induces lysosomal biogenesis in brain cells: implications for lysosomal storage disorders.

J Biol Chem 2015 Apr 6;290(16):10309-24. Epub 2015 Mar 6.

From the Departments of Neurological Sciences and the Division of Research and Development, Jesse Brown Veterans Affairs Medical Center, Chicago, Illinois 60612

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http://www.jbc.org/lookup/doi/10.1074/jbc.M114.610659
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http://dx.doi.org/10.1074/jbc.M114.610659DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4400343PMC
April 2015

Developing a utility index for the Aberrant Behavior Checklist (ABC-C) for fragile X syndrome.

Qual Life Res 2015 Feb 26;24(2):305-14. Epub 2014 Jul 26.

ICON Patient Reported Outcomes, Seacourt Tower, West Way, Oxford, OX2 0JJ, UK,

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http://dx.doi.org/10.1007/s11136-014-0759-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4317522PMC
February 2015

Cholesterol levels in fragile X syndrome.

Am J Med Genet A 2015 Feb 25;167A(2):379-84. Epub 2014 Nov 25.

Departments of Pediatrics, Rush University Medical Center, USA; Departments of Neurological Sciences, Rush University Medical Center, USA; Departments of Biochemistry, Rush University Medical Center, USA.

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http://dx.doi.org/10.1002/ajmg.a.36850DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5436717PMC
February 2015

Emerging topics in FXTAS.

J Neurodev Disord 2014 30;6(1):31. Epub 2014 Jul 30.

Department of Neurology, University of Colorado at Denver, Denver, CO, USA.

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http://dx.doi.org/10.1186/1866-1955-6-31DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4141265PMC
February 2015

Fragile X gene expansions are not associated with dementia.

Neurobiol Aging 2014 Nov 2;35(11):2637-2638. Epub 2014 May 2.

Department of Neurological Sciences, Rush University, Chicago, IL, USA; Department of Pediatrics, Rush University, Chicago, IL, USA; Department of Biochemistry, Rush University, Chicago, IL, USA.

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http://dx.doi.org/10.1016/j.neurobiolaging.2014.04.027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4273643PMC
November 2014

Fragile X syndrome: a review of associated medical problems.

Pediatrics 2014 Nov 6;134(5):995-1005. Epub 2014 Oct 6.

Departments of Pediatrics, Neurologic Sciences, and Biochemistry, Rush University Medical Center, Chicago, Illinois.

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http://dx.doi.org/10.1542/peds.2013-4301DOI Listing
November 2014

New observations in the fragile X-associated tremor/ataxia syndrome (FXTAS) phenotype.

Front Genet 2014 17;5:365. Epub 2014 Oct 17.

Department of Neurological Sciences, Rush University Chicago, IL, USA.

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http://dx.doi.org/10.3389/fgene.2014.00365DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4201107PMC
November 2014

Distribution of AGG interruption patterns within nine world populations.

Intractable Rare Dis Res 2014 Nov;3(4):153-61

Department of Biochemistry and Molecular Medicine, University of California Davis, School of Medicine, Davis, CA, USA; ; M.I.N.D. Institute, University of California Davis Medical Center, Davis, CA, USA.

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http://dx.doi.org/10.5582/irdr.2014.01028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4298645PMC
November 2014

Associated features in females with an FMR1 premutation.

J Neurodev Disord 2014 30;6(1):30. Epub 2014 Jul 30.

Center for Mind and Brain, University of California-Davis, 1 Shields Avenue, Davis, CA 95616, USA ; MIND Institute, University of California Davis, 2825 50th Street, Sacramento, CA 95817, USA.

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http://dx.doi.org/10.1186/1866-1955-6-30DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4121434PMC
August 2014

AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission.

J Neurodev Disord 2014 30;6(1):24. Epub 2014 Jul 30.

Department of Biochemistry and Molecular Medicine, University of California, Davis, School of Medicine, 2700 Stockton Blvd., Suite 2102, Sacramento, CA 95817, USA ; MIND Institute, University of California, Davis, School of Medicine, Davis, CA, USA.

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http://dx.doi.org/10.1186/1866-1955-6-24DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4126815PMC
August 2014

Autism and fragile X syndrome.

Semin Neurol 2014 Jul 5;34(3):258-65. Epub 2014 Sep 5.

Departments of Pediatrics, Neurological Sciences, and Biochemistry, Rush University Medical Center, Chicago, Illinois.

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http://dx.doi.org/10.1055/s-0034-1386764DOI Listing
July 2014

Climbing the branches of a family tree: diagnosis of fragile X syndrome.

J Pediatr 2014 Jun 6;164(6):1292-5. Epub 2014 Mar 6.

Department of Human Genetics, Emory University, Atlanta, GA.

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http://dx.doi.org/10.1016/j.jpeds.2014.01.051DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4035419PMC
June 2014

Mechanism-based treatments in neurodevelopmental disorders: fragile X syndrome.

Pediatr Neurol 2014 Apr 4;50(4):297-302. Epub 2013 Dec 4.

Department of Pediatrics, Rush University Medical Center, Chicago, Illinois; Department of Neurological Sciences, Rush University Medical Center, Chicago, Illinois; Department of Biochemistry, Rush University Medical Center, Chicago, Illinois. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2013.12.001DOI Listing
April 2014

The challenges of clinical trials in fragile X syndrome.

Psychopharmacology (Berl) 2014 Mar 31;231(6):1237-50. Epub 2013 Oct 31.

Service de Génétique Médicale, Centre Hospitalier Universitaire Vaudois, 1011, Lausanne, Switzerland.

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http://dx.doi.org/10.1007/s00213-013-3289-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3932172PMC
March 2014

Implementation of a markerless motion analysis method to quantify hyperkinesis in males with fragile X syndrome.

Gait Posture 2014 Feb 28;39(2):827-30. Epub 2013 Oct 28.

Department of Anatomy and Cell Biology, Rush University Medical Center, Chicago, IL 60612, United States; Motion Analysis Laboratory, Department of Orthopedic Surgery, Rush University Medical Center, Chicago, IL 60612, United States. Electronic address:

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http://dx.doi.org/10.1016/j.gaitpost.2013.10.017DOI Listing
February 2014

Development of mavoglurant and its potential for the treatment of fragile X syndrome.

Expert Opin Investig Drugs 2014 Jan 20;23(1):125-34. Epub 2013 Nov 20.

Novartis Institutes for BioMedical Research Basel, Forum 1 , Novartis Campus, CH-4056 Basel , Switzerland +41 61 324 0164 ; +41 61 324 8913 ;

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http://dx.doi.org/10.1517/13543784.2014.857400DOI Listing
January 2014

Analysis of PAC1 receptor gene variants in Caucasian and African American infants dying of sudden infant death syndrome.

Acta Paediatr 2013 Dec;102(12):e546-52

Department of Physiology and Pharmacology, Hotchkiss Brain Institute and Alberta Children's Hospital Research Institute, University of Calgary, Calgary, AB, Canada.

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http://dx.doi.org/10.1111/apa.12405DOI Listing
December 2013

Outcome measures for clinical trials in fragile X syndrome.

J Dev Behav Pediatr 2013 Sep;34(7):508-22

*Departments of Pediatrics, Neurological Sciences, and Biochemistry, Rush University Medical Center, Chicago, IL; †Department of Psychiatry and Behavioral Sciences, University of California, Davis School of Medicine, Sacramento, CA; ‡MIND Institute, University of California, Davis Medical Center, Sacramento, CA; §Center for Interdisciplinary Brain Sciences Research and Departments of Psychiatry and Behavioral Sciences, Radiology and Pediatrics, Stanford University School of Medicine, Stanford, CA; ¶National Institute of Mental Health, National Institutes of Health, Bethesda, MD; ‖Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD.

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http://dx.doi.org/10.1097/DBP.0b013e31829d1f20DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3784007PMC
September 2013

Development of a genomic DNA reference material panel for myotonic dystrophy type 1 (DM1) genetic testing.

J Mol Diagn 2013 Jul 13;15(4):518-25. Epub 2013 May 13.

Division of Laboratory Science and Standards, Centers for Disease Control and Prevention, Atlanta, GA 30333, USA.

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http://dx.doi.org/10.1016/j.jmoldx.2013.03.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3699699PMC
July 2013

Developing BACE-1 inhibitors for FXS.

Front Cell Neurosci 2013 28;7:77. Epub 2013 May 28.

Department of Neurology, University of Wisconsin Madison, WI, USA.

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http://dx.doi.org/10.3389/fncel.2013.00077DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3664772PMC
June 2013

CDKL5 and ARX mutations in males with early-onset epilepsy.

Pediatr Neurol 2013 May;48(5):367-77

Division of Genetic Medicine, Department of Pediatrics, University of Washington and Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington 98101, USA.

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http://dx.doi.org/10.1016/j.pediatrneurol.2012.12.030DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3742321PMC
May 2013

Development of an expressive language sampling procedure in fragile X syndrome: a pilot study.

J Dev Behav Pediatr 2013 May;34(4):245-51

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

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http://dx.doi.org/10.1097/DBP.0b013e31828742fcDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3654391PMC
May 2013