Publications by authors named "Domitille Gras"

18Publications

[Movement disorders in children].

Authors:
Domitille Gras

Rev Prat 2020 Jun;70(6):647-652

Service de neurologie et maladies métaboliques, hôpital Robert- Debré, Paris, France.

View Article

Download full-text PDF

Source
June 2020

Early-onset nucleotide excision repair disorders with neurological impairment: Clues for early diagnosis and prognostic counseling.

Clin Genet 2020 Sep 28;98(3):251-260. Epub 2020 Jul 28.

Laboratoires de Diagnostic Génétique, Institut de génétique médicale d'Alsace, Nouvel Hôpital Civil, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/cge.13798DOI Listing
September 2020

Increased diagnostic yield in complex dystonia through exome sequencing.

Parkinsonism Relat Disord 2020 05 20;74:50-56. Epub 2020 Apr 20.

Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France; Laboratoire de Diagnostic Génétique, Nouvel Hôpital Civil, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.parkreldis.2020.04.003DOI Listing
May 2020

Transition from ketogenic diet to triheptanoin in patients with GLUT1 deficiency syndrome.

J Neurol Neurosurg Psychiatry 2020 04 6;91(4):444-445. Epub 2019 Nov 6.

Faculté de Médecine de Sorbonne Université, UMR S 1127, Inserm U 1127, and CNRS UMR 7225, and Institut du Cerveau et de la Moelle épinière, Paris, France

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/jnnp-2019-321694DOI Listing
April 2020

Usefulness of diagnostic tools in a GLUT1 deficiency syndrome patient with 2 inherited mutations.

Brain Dev 2019 Oct 10;41(9):808-811. Epub 2019 Jun 10.

AP-HP, Robert Debré Hospital, Department of Pediatric Neurology, Paris, France; Université de Paris, INSERM UMR1141, Paris, France. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.braindev.2019.05.008DOI Listing
October 2019

Caffeine and the Dyskinesia Related to Mutations in the ADCY5 Gene.

Ann Intern Med 2019 09 11;171(6):439. Epub 2019 Jun 11.

Assistance Publique - Hôpitaux de Paris, Pitié-Salpêtrière Hospital, Inserm U 1127, CNRS UMR 7225, Sorbonne University, UPMC Univ Paris 06 UMR S 1127, Paris, France (A.M., E.M., E.R.).

View Article

Download full-text PDF

Source
http://dx.doi.org/10.7326/L19-0038DOI Listing
September 2019

Use of modified Atkins diet in glucose transporter type 1 deficiency syndrome.

Dev Med Child Neurol 2016 Nov 8;58(11):1193-1199. Epub 2016 Jun 8.

Service de Neurologie Pédiatrique, AP-HP, Hôpital Robert Debré, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/dmcn.13167DOI Listing
November 2016

Forceful Backbending Stereotypies Revealing MEF2C Haploinsufficiency.

Pediatr Neurol 2016 07 23;60:90-1. Epub 2016 Mar 23.

Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpital de la Pitié Salpêtrière, Département de Neurologie, Paris, France; Sorbonne Universités, Institut du Cerveau et de la Moelle Epinière (ICM), Paris, France. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.pediatrneurol.2016.03.004DOI Listing
July 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

View Article

Download full-text PDF

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

Triheptanoin dramatically reduces paroxysmal motor disorder in patients with GLUT1 deficiency.

J Neurol Neurosurg Psychiatry 2016 May 3;87(5):550-3. Epub 2015 Nov 3.

Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France Department of Neurology, AP-HP, Pitié-Salpêtrière University Hospital, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/jnnp-2015-311475DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4853553PMC
May 2016

Spasmus Nutans: More Than Meets the Eye.

Pediatr Neurol 2015 Oct 20;53(4):367-8. Epub 2015 Jun 20.

Institut National de la Santé et de la Recherche Médicale, Paris, France; Centre National de la recherche Scientifique, Paris, France; Sorbonne Universités, Université Pierre et Marie Curie (Paris VI), Paris, France; Institut du Cerveau et de la Moelle Épinière, Paris, France; Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpital de la Pitié Salpêtrière, Département de Neurologie, Paris, France. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.pediatrneurol.2015.06.011DOI Listing
October 2015

Inherited 1q21.1q21.2 duplication and 16p11.2 deletion: a two-hit case with more severe clinical manifestations.

Eur J Med Genet 2015 Sep 8;58(9):497-501. Epub 2015 Jul 8.

AP-HP, Service d'Histologie, Embryologie et Cytogénétique, Hôpital Antoine Béclère, Clamart, France; AP-HP, Service de Biochimie-Génétique, Plateforme de Génétique Constitutionnelle, Hôpital H. Mondor, Créteil, France. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2015.07.001DOI Listing
September 2015