Susan Perlman

Susan Perlman

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Susan Perlman

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Faces in the wild: A naturalistic study of children's facial expressions in response to an Internet prank.

Cogn Emot 2020 Mar 13;34(2):359-366. Epub 2019 May 13.

Department of Psychiatry, University of Pittsburgh, Pittsburgh, USA.

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http://dx.doi.org/10.1080/02699931.2019.1611542DOI Listing
March 2020

Health related quality of life in Friedreich Ataxia in a large heterogeneous cohort.

J Neurol Sci 2020 Mar 24;410:116642. Epub 2019 Dec 24.

Division of Neurology, Children's Hospital of Philadelphia, 502 Abramson Research Center, 3615 Civic Center Blvd, Philadelphia, PA 19104-4318, United States of America. Electronic address:

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http://dx.doi.org/10.1016/j.jns.2019.116642DOI Listing
March 2020

Children's Facial Muscular Movements and Risk for Early Psychopathology: Assessing Clinical Utility.

Behav Ther 2020 Mar 17;51(2):253-267. Epub 2019 Aug 17.

Washington University School of Medicine in St. Louis.

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http://dx.doi.org/10.1016/j.beth.2019.08.004DOI Listing
March 2020

Functionally meaningful rating scales in progressive pediatric movement disorders.

Authors:
Susan Perlman

Dev Med Child Neurol 2020 Feb 3;62(2):157. Epub 2019 Oct 3.

Department of Neurology, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.

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http://dx.doi.org/10.1111/dmcn.14372DOI Listing
February 2020

Does the child brain rest?: An examination and interpretation of resting cognition in developmental cognitive neuroscience.

Neuroimage 2020 Feb 27;212:116688. Epub 2020 Feb 27.

Division of Biology and Biomedical Sciences (Neurosciences), Washington University in St. Louis, St. Louis, MO, USA; Department of Psychiatry, Washington University in St. Louis, St. Louis, MO, USA.

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http://dx.doi.org/10.1016/j.neuroimage.2020.116688DOI Listing
February 2020

Rapidly Progressing Neurocognitive Disorder in a Male with FXTAS and Alzheimer's Disease.

Clin Interv Aging 2020 26;15:285-292. Epub 2020 Feb 26.

Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California Davis, Sacramento, CA, USA.

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http://dx.doi.org/10.2147/CIA.S240314DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7051898PMC
February 2020

Psychometric properties of the Friedreich Ataxia Rating Scale.

Neurol Genet 2019 Dec 29;5(6):371. Epub 2019 Oct 29.

Clinical Data Science GmbH (C.R.), Basel, Switzerland; Bruce Lefroy Centre for Genetic Health Research (L.A.C., M.B.D.), Murdoch Children's Research Institute, Parkville, Victoria, Australia; Department of Paediatrics (L.A.C., M.B.D.), University of Melbourne, Parkville, Victoria, Australia; Department of Neurology (S.H.S.), McKnight Brain Institute, Room, Gainesville, FL; University of Minnesota (K.B.); University of Chicago (C.M.G.); Ohio State University (J.C.H.); Divisions of Neurology and Clinical and Metabolic Genetics (G.Y.), Department of Paediatrics, the Hospital for Sick Children, University of Toronto, Ontario, Canada Hospital; University of Rochester (B.R.); University of Iowa (K.D.M.); Emory University (G.W.); University of South Florida (T.Z.); Friedreich's Ataxia Research Alliance (S.P.), Downingtown, PA; and Division of Neurology (D.R.L.), Children's Hospital of Philadelphia.

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http://dx.doi.org/10.1212/NXG.0000000000000371DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6927357PMC
December 2019

Parent-child neural synchrony: a novel approach to elucidating dyadic correlates of preschool irritability.

J Child Psychol Psychiatry 2019 Nov 26. Epub 2019 Nov 26.

Department of Psychiatry, Washington University in St. Louis, St. Louis, MO, USA.

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http://dx.doi.org/10.1111/jcpp.13165DOI Listing
November 2019

Cognitive flexibility-related prefrontal activation in preschoolers: A biological approach to temperamental effortful control.

Dev Cogn Neurosci 2019 08 24;38:100651. Epub 2019 May 24.

University of Pittsburgh, Department of Psychiatry, United States; University of Pittsburgh, Center for Neuroscience, United States.

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http://dx.doi.org/10.1016/j.dcn.2019.100651DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6969345PMC
August 2019

Neural architecture supporting active emotion processing in children: A multivariate approach.

Neuroimage 2019 03 8;188:171-180. Epub 2018 Dec 8.

Center for Neuroscience, University of Pittsburgh, Pittsburgh, PA, USA; Center for the Neural Basis of Cognition, University of Pittsburgh, Pittsburgh, PA, USA; Department of Psychiatry, University of Pittsburgh, Pittsburgh, PA, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S10538119183215
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http://dx.doi.org/10.1016/j.neuroimage.2018.12.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6401267PMC
March 2019

Linking the Child Behavior Checklist (CBCL) with the Multidimensional Assessment Profile of Disruptive Behavior (MAP-DB): Advancing a dimensional spectrum approach to disruptive behavior.

J Child Fam Stud 2019 Feb 17;28(2):343-353. Epub 2018 Oct 17.

Northwestern University Department of Medical Social Sciences, Feinberg School of Medicine and the Institute for Innovations in Developmental Sciences, Chicago, IL.

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http://dx.doi.org/10.1007/s10826-018-1272-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6709983PMC
February 2019

Relationships Among Apathy, Health-Related Quality of Life, and Function in Huntington's Disease.

J Neuropsychiatry Clin Neurosci 2018 21;30(3):194-201. Epub 2018 Mar 21.

From the Departments of Health Care Sciences and Neurology, Wayne State University, Detroit (NEF); the Department of Physical Medicine and Rehabilitation, University of Michigan, Ann Arbor (NRB, NEC); the Institute of Cognitive and Clinical Neurosciences, School of Psychological Sciences, Monash University, Clayton, Victoria, Australia (JCS); the Department of Psychological and Brain Sciences, University of Massachusetts Amherst, Amherst (RR); the Departments of Neurology, Radiology, Neuroscience, Physical Therapy, and Occupational Therapy, Washington University, St. Louis (JSP, SB); the Department of Neurology, Department of Psychiatry, and Department of Psychological and Brain Sciences, University of Iowa, Iowa City (JSP); the Department of Medical and Molecular Genetics, Indiana University, Indianapolis (KQ); the Department of Psychiatry, Rutgers University Robert Wood Johnson Medical School, Piscataway, NJ (MKM); Department of Pathology, Rowan University, School of Medicine, Stratford, NJ (MKM); and the Department of Neurology, University of California Los Angeles, Los Angeles (SLP).

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http://dx.doi.org/10.1176/appi.neuropsych.17080173DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6081241PMC
November 2018

Drug treatment.

Handb Clin Neurol 2018 ;155:371-377

Department of Pediatric Neurology, University Children's Hospital, University of Zurich, Zurich, Switzerland.

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http://dx.doi.org/10.1016/B978-0-444-64189-2.00024-XDOI Listing
October 2018

Using facial muscular movements to understand young children's emotion regulation and concurrent neural activation.

Dev Sci 2018 09 11;21(5):e12628. Epub 2017 Dec 11.

Department of Psychiatry, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.

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http://dx.doi.org/10.1111/desc.12628DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5995650PMC
September 2018

Von Hippel-Lindau disease and Sturge-Weber syndrome.

Authors:
Susan Perlman

Handb Clin Neurol 2018 ;148:823-826

Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, CA, United States. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/B97804446407650
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http://dx.doi.org/10.1016/B978-0-444-64076-5.00053-3DOI Listing
August 2018

Double-blind, randomized and controlled trial of EPI-743 in Friedreich's ataxia.

Neurodegener Dis Manag 2018 08 27;8(4):233-242. Epub 2018 Jul 27.

Bioelectron Technology Corporation, Mountain View, CA, 94043 USA.

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http://dx.doi.org/10.2217/nmt-2018-0013DOI Listing
August 2018

Longitudinal analysis of contrast acuity in Friedreich ataxia.

Neurol Genet 2018 Aug 23;4(4):e250. Epub 2018 Jul 23.

Department of Neurology (A.G.H., D.R.L.), University of Pennsylvania; Divisions of Neurology and Pediatrics (L.A.H., D.R.L.), Children's Hospital of Philadelphia, PA; Department of Neurology (S.P.), University of California at Los Angeles; Departments of Neurology and Pediatrics (K.M.), University of Iowa; Department of Neurology (G.R.W.), Emory University, Atlanta, GA; Department of Neurology (T.Z.), University of South Florida, Tampa Bay; Department of Neurology (S.H.S.), University of Florida, Gainesville; Department of Neurology (T.A.), Houston Methodist Hospital, TX; Murdoch Children's Research Institute (M.B.D.), Melbourne, Victoria, Australia; and Department of Neurology (A.B.), University of Rochester, NY.

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http://dx.doi.org/10.1212/NXG.0000000000000250DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6066362PMC
August 2018

Expanding the global prevalence of spinocerebellar ataxia type 42.

Neurol Genet 2018 Jun 5;4(3):e232. Epub 2018 Apr 5.

Department of Neurology (K.J.N., M.A., S.P., G.C., B.L.F.), Program in Neurogenetics, David Geffen School of Medicine, University of California, Los Angeles; Department of Medical Genetics (L.E.P., J.E.B.), Vanderbilt University Medical Center, Nashville, TN; Department of Psychiatry and Biobehavioral Sciences (J.A.C., G.C.), University of California, Los Angeles, CA; Institute of Neurological Sciences (F.C., S.C.), Italian National Research Council, Mangone, Italy; Department of Neurology (A.B.N., M.D.G.), UCSF Memory and Aging Center, University of California, San Francisco; Sackler Faculty of Medicine (S.H.), Tel-Aviv University, Israel; Italian College of General Practitioners and Primary Care (D.I.), Department of Clinical and Experimental Medicine (A.L.), University of Messina, Italy; and the Department of Human Genetics (B.L.F.), David Geffen School of Medicine, University of California, Los Angeles.

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http://dx.doi.org/10.1212/NXG.0000000000000232DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5886831PMC
June 2018

Impact of Mobility Device Use on Quality of Life in Children With Friedreich Ataxia.

J Child Neurol 2018 05 2;33(6):397-404. Epub 2018 Apr 2.

1 Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1177/0883073818764941DOI Listing
May 2018

Comprehensive systematic review summary: Treatment of cerebellar motor dysfunction and ataxia: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology.

Neurology 2018 03 9;90(10):464-471. Epub 2018 Feb 9.

From the Department of Neurology (T.A.Z., J.D. Shaw), University of South Florida, Tampa; Department of Neurology (G.W.), Emory University, Atlanta, GA; Department of Neurology (S.-H.K.), Columbia University, New York, NY; Department of Neurology (S.P.), University of California, Los Angeles; Department of Neurology (P.E.G.), Beth Israel Deaconess Medical Center, Boston, MA; Shire (S.H.Y.), Lexington, MA, and the Johns Hopkins University School of Medicine, Baltimore, MD; Department of Neurology (T.A.), Houston Methodist Research Institute, TX; Department of Neurology (S.H.S., M.J.A.), University of Florida College of Medicine, Gainesville; Department of Neurology (J.D. Schmahmann), Massachusetts General Hospital, and Department of Neurology, Harvard Medical School, Boston, MA; Department of Neurology (K.P.F.), University of Utah, Salt Lake City; National Center of Neurology and Psychiatry (H.M.), Tokyo, Japan; Department of Neurology and Hertie-Institute for Clinical Brain Research (L.S.), Tübingen, Germany; Department of Neurology (R.M.D., G.S.D.), University of Kansas Medical Center, Kansas City; and Jiann-Ping Hsu College of Public Health (K.L.S.), Georgia Southern University, Statesboro.

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http://dx.doi.org/10.1212/WNL.0000000000005055DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5863491PMC
March 2018

The Neurodevelopmental Basis of Early Childhood Disruptive Behavior: Irritable and Callous Phenotypes as Exemplars.

Am J Psychiatry 2018 02 17;175(2):114-130. Epub 2017 Nov 17.

From the Department of Medical Social Sciences, Institute for Innovations in Developmental Sciences, and the Institute for Policy Research, Northwestern University, Chicago; the Department of Psychiatry, University of Pittsburgh, Pittsburgh; the Center for Neurobehavioral Research, Boys Town National Research Hospital, Boys Town, Nebr.; the Department of Psychiatry, University of Connecticut, Farmington, Conn.; and the National Institute of Mental Health, Bethesda, Md.

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http://dx.doi.org/10.1176/appi.ajp.2017.17010045DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6075952PMC
February 2018

Evidence of Non-Linear Associations between Frustration-Related Prefrontal Cortex Activation and the Normal:Abnormal Spectrum of Irritability in Young Children.

J Abnorm Child Psychol 2018 01;46(1):137-147

Department of Psychiatry, Laboratory for Child Brain Development, University of Pittsburgh School of Medicine, Loeffler Building, 121 Meyran Avenue, Pittsburgh, PA, 15213, USA.

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http://dx.doi.org/10.1007/s10802-017-0286-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5603348PMC
January 2018

Neurodevelopmental maturation as a function of irritable temperament: Insights From a Naturalistic Emotional Video Viewing Paradigm.

Hum Brain Mapp 2017 10 24;38(10):5307-5321. Epub 2017 Jul 24.

Department of Psychiatry, University of Pittsburgh, Pittsburgh, Pennsylvania.

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http://doi.wiley.com/10.1002/hbm.23742
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http://dx.doi.org/10.1002/hbm.23742DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5752122PMC
October 2017

Impact of diabetes in the Friedreich ataxia clinical outcome measures study.

Ann Clin Transl Neurol 2017 09 26;4(9):622-631. Epub 2017 Jul 26.

Department of Pediatrics Perelman School of Medicine at the University of Pennsylvania Philadelphia Pennsylvania 19104.

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http://dx.doi.org/10.1002/acn3.439DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5590524PMC
September 2017

Prevalence of spinocerebellar ataxia 36 in a US population.

Neurol Genet 2017 Aug 18;3(4):e174. Epub 2017 Jul 18.

Program in Neurogenetics (J.M.V., T.D., D.H.G., S.P., B.L.F.), Department of Neurology and Department of Human Genetics (D.H.G., B.L.F.), David Geffen School of Medicine, University of California Los Angeles; The Human Genetics Center (L.E.P., J.E.B.), University of Texas School of Public Health, Houston; Fundación Pública Galega de Medicina Xenómica-SERGAS (B.Q., Z.Y., M.J.S.), Instituto de Investigación Sanitaria (IDIS), Santiago de Compostela; Genomic Medicine Group (U711) (B.Q., Z.Y., M.J.S.), Centre for Biomedical Network Research on Rare Diseases (CIBERER), Institute of Health Carlos III, Madrid, Spain; Grupo del Investigación en Genética (Z.Y.), Universidad Simón Bolívar, Barranquilla, Colombia; Department of Molecular and Human Genetics (E.B., D.M., R.G., J.R.L.) and Human Genome Center (J.R.L.), Baylor College of Medicine, Houston, TX; and Department of Integrative Biology and Pharmacology (D.A., R.B.), Institute of Molecular Medicine Center for Metabolic and Degenerative Diseases (R.B.), and Cell and Regulatory Biology Program of The University of Texas Graduate School of Biomedical Sciences (R.B.), McGovern Medical School at The University of Texas Health Science Center at Houston.

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http://dx.doi.org/10.1212/NXG.0000000000000174DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5515602PMC
August 2017

Frataxin deficiency impairs mitochondrial biogenesis in cells, mice and humans.

Hum Mol Genet 2017 07;26(14):2627-2633

Department of Molecular Biosciences, University of California School of Veterinary Medicine, Davis, CA 95616, USA.

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http://dx.doi.org/10.1093/hmg/ddx141DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6251520PMC
July 2017

The neural substrates of cognitive flexibility are related to individual differences in preschool irritability: A fNIRS investigation.

Dev Cogn Neurosci 2017 06 4;25:138-144. Epub 2016 Aug 4.

Department of Psychiatry, Western Psychiatric Institute and Clinic, University of Pittsburgh, United States. Electronic address:

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http://dx.doi.org/10.1016/j.dcn.2016.07.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5292091PMC
June 2017

Characterization and correction of the false-discovery rates in resting state connectivity using functional near-infrared spectroscopy.

J Biomed Opt 2017 05;22(5):55002

University of Pittsburgh, Departments of Radiology and Bioengineering, Clinical Science Translational Institute, and Center for the Neural Basis of Cognition, Pittsburgh, Pennsylvania, United States.

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http://biomedicaloptics.spiedigitallibrary.org/article.aspx?
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http://dx.doi.org/10.1117/1.JBO.22.5.055002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5424771PMC
May 2017

Cardiac transplantation in Friedreich Ataxia: Extended follow-up.

J Neurol Sci 2017 Apr 10;375:471-473. Epub 2017 Jan 10.

Department of Pediatrics and Neurology, The Children's Hospital of Philadelphia, PA, United States; Perelman School of Medicine University of Pennsylvania, Philadelphia, PA, United States. Electronic address:

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http://dx.doi.org/10.1016/j.jns.2017.01.027DOI Listing
April 2017

Progression of Friedreich ataxia: quantitative characterization over 5 years.

Ann Clin Transl Neurol 2016 09 25;3(9):684-94. Epub 2016 Jul 25.

Departments of Pediatrics and Neurology The Children's Hospital of Philadelphia Philadelphia Pennsylvania; Perelman School of Medicine University of Pennsylvania Philadelphia Pennsylvania.

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http://dx.doi.org/10.1002/acn3.332DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5018581PMC
September 2016

Comorbid Medical Conditions in Friedreich Ataxia: Association With Inflammatory Bowel Disease and Growth Hormone Deficiency.

J Child Neurol 2016 08 12;31(9):1161-5. Epub 2016 Apr 12.

Departments of Pediatrics and Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA

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http://dx.doi.org/10.1177/0883073816643408DOI Listing
August 2016

Clinical-Genetic Associations in the Prospective Huntington at Risk Observational Study (PHAROS): Implications for Clinical Trials.

Authors:
Kevin Michael Biglan Ira Shoulson Karl Kieburtz David Oakes Elise Kayson M Aileen Shinaman Hongwei Zhao Megan Romer Anne Young Steven Hersch Jack Penney Karen Marder Jane Paulsen Kimberly Quaid Eric Siemers Caroline Tanner William Mallonee Greg Suter Richard Dubinsky Carolyn Gray Martha Nance Scott Bundlie Dawn Radtke Sandra Kostyk Corrine Baic James Caress Francis Walker Victoria Hunt Christine O'Neill Sylvain Chouinard Stewart Factor Timothy Greenamyre Cathy Wood-Siverio Jody Corey-Bloom David Song Guerry Peavy Carol Moskowitz Melissa Wesson Ali Samii Thomas Bird Hillary Lipe Karen Blindauer Frederick Marshall Carol Zimmerman Jody Goldstein Diana Rosas Peter Novak John Caviness Charles Adler Amy Duffy Vicki Wheelock Teresa Tempkin David Richman Lauren Seeberger Roger Albin Kelvin L Chou Brad Racette Joel S Perlmutter Susan Perlman Yvette Bordelon Wayne Martin Marguerite Wieler Blair Leavitt Lynn Raymond Joji Decolongon Lorne Clarke Joseph Jankovic Christine Hunter Robert A Hauser Juan Sanchez-Ramos Sarah Furtado Oksana Suchowersky Mary Lou Klimek Mark Guttman Rustom Sethna Andrew Feigin Marie Cox Barbara Shannon Alan Percy Leon Dure Madaline Harrison William Johnson Donald Higgins Eric Molho Constance Nickerson Sharon Evans Douglas Hobson Carlos Singer Nestor Galvez-Jimenez Kathleen Shannon Cynthia Comella Christopher Ross Marie H Saint-Hilaire Claudia Testa Adam Rosenblatt Penelope Hogarth William Weiner Peter Como Rajeev Kumar Candace Cotto Julie Stout Alicia Brocht Arthur Watts Shirley Eberly Christine Weaver Tatiana Foroud James Gusella Marcy MacDonald Richard Myers Stanley Fahn Clifford Shults

JAMA Neurol 2016 Jan;73(1):102-10

Department of Neuroscience, University of California, San Diego, La Jolla.

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http://dx.doi.org/10.1001/jamaneurol.2015.2736DOI Listing
January 2016

Romiplostim mitigates dose-limiting thrombocytopenia of erucic acid for adrenomyeloneuropathy.

Br J Haematol 2015 Dec 8;171(5):879-81. Epub 2015 Apr 8.

Department of Medicine, Division of Hematology-Oncology, University of California Los Angeles (UCLA), Los Angeles, CA, USA.

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http://dx.doi.org/10.1111/bjh.13440DOI Listing
December 2015

Neural substrates of child irritability in typically developing and psychiatric populations.

Dev Cogn Neurosci 2015 Aug 20;14:71-80. Epub 2015 Jul 20.

Department of Psychiatry, Western Psychiatric Institute and Clinic, University of Pittsburgh, United States.

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http://dx.doi.org/10.1016/j.dcn.2015.07.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4536125PMC
August 2015

Frataxin levels in peripheral tissue in Friedreich ataxia.

Ann Clin Transl Neurol 2015 Aug 1;2(8):831-42. Epub 2015 Jul 1.

Departments of Pediatrics and Neurology, Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania Philadelphia, Pennsylvania, 19104.

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http://dx.doi.org/10.1002/acn3.225DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4554444PMC
August 2015

Clinical evaluation of eye movements in spinocerebellar ataxias: a prospective multicenter study.

J Neuroophthalmol 2015 Mar;35(1):16-21

Department of Neurology (MM, MSO, CF, GX, TA, SHS), McKnight Brain Institute, University of Florida, Gainesville, Florida; Department of Neurology (KPF, SMP), University of Utah, Salt Lake City, Utah; Department of Neurology (SP), University of California, Los Angeles, Los Angeles, California; Department of Neurology (GW), Emory University, Atlanta, Georgia; Department of Neurology (CG), University of Chicago, Chicago, Illinois; Department of Neurology (JS), Massachusetts General Hospital, Harvard Medical School; Department of Neurology (HP, VS), University of Michigan, Ann Arbor, Michigan; Department of Neurology (SY), Johns Hopkins University, Baltimore, Maryland; Department of Neurology (TZ), University of South Florida, Tampa, Florida; Department of Neurology (SHK, PM), Columbia University, New York, New York; and Department of Neurology (KB), University of Minnesota, Minneapolis, Minnesota.

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http://dx.doi.org/10.1097/WNO.0000000000000167DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4675453PMC
March 2015

Friedreich's ataxia: the European consortium.

Lancet Neurol 2015 Feb 5;14(2):130-1. Epub 2015 Jan 5.

Department of Neurology, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.

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http://dx.doi.org/10.1016/S1474-4422(14)70327-8DOI Listing
February 2015

Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia.

JAMA Neurol 2014 Oct;71(10):1237-46

Program in Neurogenetics, Department of Neurology, David Geffen School of Medicine, University of California at Los Angeles2Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California at Los Angeles3UCLA Clin.

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http://dx.doi.org/10.1001/jamaneurol.2014.1944DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4324730PMC
October 2014

Emotional reactivity and its impact on neural circuitry for attention-emotion interaction in childhood and adolescence.

Dev Cogn Neurosci 2014 Apr 7;8:100-9. Epub 2013 Sep 7.

University of Pittsburgh Department of Psychiatry, United States.

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http://dx.doi.org/10.1016/j.dcn.2013.08.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3949237PMC
April 2014

fNIRS evidence of prefrontal regulation of frustration in early childhood.

Neuroimage 2014 Jan 25;85 Pt 1:326-34. Epub 2013 Apr 25.

University of Pittsburgh Department of Psychiatry, USA. Electronic address:

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http://dx.doi.org/10.1016/j.neuroimage.2013.04.057DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3796135PMC
January 2014

Comprehensive phenotype of the p.Arg420his allelic form of spinocerebellar ataxia type 13.

Cerebellum 2013 Dec;12(6):932-6

Department of Neurology, University of Florida College of Medicine, Box 100296, Gainesville, FL, 32610, USA.

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http://dx.doi.org/10.1007/s12311-013-0507-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3824261PMC
December 2013

Common data elements for clinical research in Friedreich's ataxia.

Mov Disord 2013 Feb 12;28(2):190-5. Epub 2012 Dec 12.

Department of Neurology, University of Pennsylvania and the Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.

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http://dx.doi.org/10.1002/mds.25201DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3581713PMC
February 2013

Brain uptake of Tc99m-HMPAO correlates with clinical response to the novel redox modulating agent EPI-743 in patients with mitochondrial disease.

Mol Genet Metab 2012 Dec 28;107(4):690-9. Epub 2012 Sep 28.

Department of Radiology, Divisions of Pediatric Radiology & Nuclear Medicine, Lucile Packard Children's Hospital, Stanford, CA 94305, USA.

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http://dx.doi.org/10.1016/j.ymgme.2012.09.023DOI Listing
December 2012

Neuroimaging in child clinical populations: considerations for a successful research program.

Authors:
Susan B Perlman

J Am Acad Child Adolesc Psychiatry 2012 Dec;51(12):1232-5

University of Pittsburgh, Pittsburgh, PA 15213, USA.

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http://dx.doi.org/10.1016/j.jaac.2012.09.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3652337PMC
December 2012

Clinical data and characterization of the liver conditional mouse model exclude neoplasia as a non-neurological manifestation associated with Friedreich's ataxia.

Dis Model Mech 2012 Nov 26;5(6):860-9. Epub 2012 Jun 26.

Translational Medecine and Neurogenetics, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), 67404 Illkirch, France.

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http://dx.doi.org/10.1242/dmm.009829DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3484868PMC
November 2012

Clinical monitoring in a patient with Friedreich ataxia and osteogenic sarcoma.

J Child Neurol 2012 Sep 29;27(9):1159-63. Epub 2012 Jun 29.

Department of Pharmacology, University of Pennsylvania School of Medicine, Philadelphia, PA, USA.

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http://dx.doi.org/10.1177/0883073812448460DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3674811PMC
September 2012

Childhood ataxia: clinical features, pathogenesis, key unanswered questions, and future directions.

J Child Neurol 2012 Sep 1;27(9):1095-120. Epub 2012 Aug 1.

Department of Pediatrics, Medical College of Georgia, Georgia Health Sciences University, Augusta, GA 30912, USA.

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http://dx.doi.org/10.1177/0883073812448840DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3695710PMC
September 2012

A review of Friedreich ataxia clinical trial results.

Authors:
Susan L Perlman

J Child Neurol 2012 Sep;27(9):1217-22

Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA.

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http://dx.doi.org/10.1177/0883073812453872DOI Listing
September 2012

Oculomotor and visual axis systems sparing in spinocerebellar ataxia type 13(R420H).

Neurology 2012 Sep 29;79(11):1181-2. Epub 2012 Aug 29.

Department of Neurology, University of Florida College of Medicine, Gainesville, USA.

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http://dx.doi.org/10.1212/WNL.0b013e3182698d5cDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3525304PMC
September 2012