Publications by authors named "Jennifer R Friedman"

14Publications

Rapid Diagnosis of KCNQ2-Associated Early Infantile Epileptic Encephalopathy Improved Outcome.

Pediatr Neurol 2018 09 10;86:69-70. Epub 2018 Jul 10.

Department of Neuroscience at the University of California, San Diego, San Diego, California; Department of Pediatrics at the University of California, San Diego, San Diego, California. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2018.06.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6824418PMC
September 2018

Low CSF 5-HIAA in Myoclonus Dystonia.

Mov Disord 2017 11 26;32(11):1647-1649. Epub 2017 Sep 26.

Developmental Neurosciences, UCL Great Ormond Street-Institute of Child Health, London, United Kingdom.

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http://dx.doi.org/10.1002/mds.27117DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5796435PMC
November 2017

ADCY5-related dyskinesia: Comments on characteristic manifestations and variant-associated severity.

Mov Disord 2017 02 9;32(2):305-306. Epub 2016 Dec 9.

Geriatric Research, Education and Clinical Center Department of Veteran Affairs, Seattle, Washington, USA.

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http://dx.doi.org/10.1002/mds.26888DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5318268PMC
February 2017

What Is Not in the Name? Dopa-Responsive Dystonia May Respond to More Than L-Dopa.

Pediatr Neurol 2016 06 4;59:76-80. Epub 2016 Mar 4.

Department of Neurosciences and Pediatrics, University of California San Diego and Rady Children's Hospital, San Diego, California. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S08878994153027
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http://dx.doi.org/10.1016/j.pediatrneurol.2015.12.016DOI Listing
June 2016

ADCY5 mutation carriers display pleiotropic paroxysmal day and nighttime dyskinesias.

Mov Disord 2016 Jan 21;31(1):147-8. Epub 2015 Dec 21.

Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, F-75013, Paris, France.

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http://dx.doi.org/10.1002/mds.26494DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4724296PMC
January 2016

ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations.

Neurology 2015 Dec 4;85(23):2026-35. Epub 2015 Nov 4.

From the Departments of Neurology (D.-H.C., E.S.B., M.Y.D., P.D.S., M.W., T.D.B.), Psychiatry and Behavioral Sciences (O.K., W.H.R.), Genome Sciences (H.A.S., E.E.E.), Medicine (F.M.H., L.M.A., W.H.R.), and Pathology (M.O.D.), and Howard Hughes Medical Institute (E.E.E.), University of Washington, Seattle; Inserm (A.M., D. Grabli, M.V., O.T., E.R.), U 1127; CNRS (A.M., D. Grabli, M.V., O.T., E.R.), UMR 7225; Sorbonne Université (A.M., D. Grabli, M.V., O.T., E.R.), UPMC Univ Paris 06, UMR S 1127; Institut du Cerveau et de la Moelle Épinière (A.M., D. Grabli, M.V., O.T., E.R.), ICM; Départements de Neurologie (A.M., B.D., D. Grabli, M.V., O.T., E.R.) et de Génétique (C.M.), Hôpital de la Pitié Salpêtrière, AP-HP, Paris, France; the Departments of Neurosciences and Pediatrics (J.R.F.), University of California, San Diego; Rady Childrens Hospital (J.R.F.), San Diego, CA; Tel-Aviv Brill Community Mental Health Center (A.G.), Tel Aviv Medical School, Israel; Service de Neuropédiatrie (D.D.), Hôpital Trousseau, AP-HP; Centre de Référence Mouvements Anormaux de l'Enfant à l'Adulte (D.D.); Centre des Déficiences Intellectuelles de Causes Rares (C.M.), Paris; Département de Neurologie (M.A., C.T.), Hôpital Civil de Strasbourg; Fédération de Médecine Translationnelle de Strasbourg (FMTS) (M.A., C.T.), Université de Strasbourg; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC) (M.A., C.T.), INSERM-U964/CNRS-UMR7104/Université de Strasbourg, Illkirch, France; Phoenix Children's Hospital (S.B.), AZ; CHU de Bordeaux (N.D.-P.), Explorations Fonctionnelles du Système Nerveux; Service de Neuropédiatrie (D. Gras), Hôpital Robert Debré, AP-HP, Paris, France; Department of Child Neurology (K.M.M.), Lucile Packard Children's Hospital, Stanford University, Palo Alto, CA; Johns Hopkins All Children's Hospital (S.W.), St. Petersburg, FL; The Scripps Translational Science Institute (A.T.), Scripps Health and The Scripps Research Institute, S

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http://dx.doi.org/10.1212/WNL.0000000000002058DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4676753PMC
December 2015

An unusual presentation of posterior fossa ependymoma in a child.

BMJ Case Rep 2013 Jul 5;2013. Epub 2013 Jul 5.

Department of Neurosciences and Pediatrics, University of California San Diego, San Diego, California, USA.

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http://dx.doi.org/10.1136/bcr-2013-010267DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3736280PMC
July 2013

Atypical GLUT1 deficiency with prominent movement disorder responsive to ketogenic diet.

Mov Disord 2006 Feb;21(2):241-5

Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, and Department of Neurology, Colleen Giblin Laboratories for Pediatric Neurology Research, Columbia University, New York, NY, USA.

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http://dx.doi.org/10.1002/mds.20660DOI Listing
February 2006