Publications by authors named "Emmanuel Roze"

100Publications

MRI of neurodegeneration with brain iron accumulation.

Curr Opin Neurol 2020 Aug;33(4):462-473

Paris Brain Institute, Institut du Cerveau et de la Moelle épinière - ICM, INSERM U 1127, CNRS UMR 7225, Sorbonne Université, Team 'Movement Investigations and Therapeutics' (MOV'IT).

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http://dx.doi.org/10.1097/WCO.0000000000000844DOI Listing
August 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.

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

Structural and functional abnormalities within sensori-motor and limbic networks underpin intermittent explosive symptoms in Tourette disorder.

J Psychiatr Res 2020 Jun 4;125:1-6. Epub 2020 Mar 4.

Sorbonne University, 75005, Paris, France; Inserm U1127, CNRS UMR7225, UM75, ICM, Paris, France; Movement Investigation and Therapeutics Team, F-75013, Paris, France; National Reference Center for Tourette Syndrome, Assistance Publique des Hôpitaux de Paris, Groupe Hospitalier Pitié-Salpêtrière, F-75013, Paris, France; Department of Neurophysiology, Saint Antoine Hospital, Assistance Publique-Hôpitaux de Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.jpsychires.2020.02.033DOI Listing
June 2020

Subcortical Myoclonus and Associated Dystonia in 22q11.2 Deletion Syndrome.

Tremor Other Hyperkinet Mov (N Y) 2019 24;10. Epub 2020 Jan 24.

Neurology Unit, Avicenne University Hospital, Hôpitaux Universitaires de Paris-Seine Saint Denis, Bobigny, FR.

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http://dx.doi.org/10.7916/tohm.v0.729DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6982424PMC
January 2020

Loss-of-Function Mutations in NR4A2 Cause Dopa-Responsive Dystonia Parkinsonism.

Mov Disord 2020 05 10;35(5):880-885. Epub 2020 Jan 10.

Sorbonne Université, Institut du Cerveau et de la Moelle épinière, Inserm U 1127, CNRS UMR 7225, F-75013, Paris, France.

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http://dx.doi.org/10.1002/mds.27982DOI Listing
May 2020

Association of Rare Genetic Variants in Opioid Receptors with Tourette Syndrome.

Tremor Other Hyperkinet Mov (N Y) 2019 22;9. Epub 2019 Nov 22.

INSERM, U 1127, CNRS UMR 7225, Faculté de Médecine de Sorbonne Université, UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Hôpital Pitié-Salpêtrière, 47-83 Boulevard de l'Hôpital, 75013 Paris, FR.

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http://dx.doi.org/10.7916/tohm.v0.693DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6878848PMC
September 2020

Pathophysiology of gait disorders induced by bilateral globus pallidus interna stimulation in dystonia.

Brain 2020 01;143(1):e3

Institut du Cerveau et de la Moelle épinière, ICM, Inserm U 1127, CNRS UMR 7225, Hôpital Pitié-Salpêtrière, F-75013, Paris, France.

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http://dx.doi.org/10.1093/brain/awz356DOI Listing
January 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

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

Invalidation of Parkinson's disease diagnosis after years of follow-up based on clinical, radiological and neurophysiological examination.

J Neurol Sci 2019 Nov 9;406:116454. Epub 2019 Sep 9.

Service de Neurologie, Hôpital Avicenne, Assistance Publique-Hôpitaux de Paris (AP-HP), Université Paris 13, 93000 Bobigny, France; Dynamics and Pathophysiology of Neuronal Networks Team, Center for Interdisciplinary Research in Biology, Collège de France, CNRS UMR7241/INSERM U1050, MemoLife Labex, 75005 Paris, France.

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http://dx.doi.org/10.1016/j.jns.2019.116454DOI Listing
November 2019

Functional Motor Symptoms in Parkinson's Disease and Functional Parkinsonism: A Systematic Review.

J Neuropsychiatry Clin Neurosci 2020 30;32(1):4-13. Epub 2019 Aug 30.

Neurology Unit, Avicenne University Hospital, Hôpitaux Universitaires de Paris-Seine Saint Denis, Bobigny, France (Ambar Akkaoui, Degos, Garcin); Dynamics and Pathophysiology of Neuronal Networks Team, Center for Interdisciplinary Research in Biology, Collège de France, Paris (Degos); the Department of Psychiatry and Addictive Medicine, Assistance Publique-Hôpitaux de Paris (AP-HP), University Hospital Bichat-Claude Bernard, and Paris Diderot University, Paris (Geoffroy); the Department of Neurology, Salpêtrière Hospital, AP-HP, Paris (Roze); and Brain and Spine Institute, Faculty of Medicine of Sorbonne University, Paris (Roze, Garcin).

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http://dx.doi.org/10.1176/appi.neuropsych.19030058DOI Listing
August 2019

Infantile-Onset Paroxysmal Movement Disorder and Episodic Ataxia Associated with a TBC1D24 Mutation.

Neuropediatrics 2019 10 21;50(5):308-312. Epub 2019 Jun 21.

Pediatric Neurology, Child and Adolescent Department, University Hospitals, Geneva, Switzerland.

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http://dx.doi.org/10.1055/s-0039-1688410DOI 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.).

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

GLUT1 Deficiency in a Patient Diagnosed as Cerebral Palsy: Is NGS a Valuable Tool to Be Considered in All Cases of CP to Detect Underlying Genetic Disorders?

Mov Disord Clin Pract 2019 Apr 28;6(4):277-279. Epub 2019 Mar 28.

Department of Neurology Pitié-Salpêtrière Hospital, APHP Paris France.

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http://dx.doi.org/10.1002/mdc3.12754DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6476600PMC
April 2019

Long-term outcome in neuroZika: When biological diagnosis matters.

Neurology 2019 05 26;92(21):e2406-e2420. Epub 2019 Apr 26.

From the Service de Neurologie (A.L., Q.L.), Service de Radiologie (P.P.), Laboratoire de Microbiologie Clinique et Environnementale (C.H., S.B.), and Service de Réanimation (G.T.), Centre Hospitalier Universitaire de la Guadeloupe, Institut Pasteur de Guadeloupe (S.B.), Faculté de Médecine (A.L., Q.L., R.C., G.T., S.B., A.C.), Equipe d'accueil 4537 (F.N., R.C., A.C.), Université des Antilles; Faculté de Médecine de Sorbonne Université (A.L., E.H., E.R.), Institut National de la Santé et de la Recherche Médicale, U 1127, CNRS, Unité Mixte de Recherche 7225, Institut du Cerveau et de la Moelle Épinière, ICM, Paris; Service de Réanimation (J.-L.F., A.-C.S., R.V.), Service de Neurologie (A.S.), Service de Maladies Infectieuses et Tropicales (A.C., B.R.), and Laboratoire de Virologie (R.C., F.N.), Centre Hospitalier Universitaire de la Martinique (A.C.); Inserm CIC 1424 (B.T., A.C.), Centre d'Investigation Clinique Antilles Guyane; Emerging Diseases Epidemiology Unit (Y.M.), Institut Pasteur; Département de Neurologie (E.M., E.R.), AP-HP, Hôpital de la Pitié-Salpêtrière; and Institut Pasteur, Perception and Memory Unit (P.-M.L., F.L.), Centre National de la Recherche Scientifique, Unité Mixte de Recherche 3571, Paris, France.

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http://dx.doi.org/10.1212/WNL.0000000000007536DOI Listing
May 2019

Variable Interpretation of the Dystonia Consensus Classification Items Compromises Its Solidity.

Mov Disord 2019 03 6;34(3):317-320. Epub 2019 Feb 6.

University of Groningen, University Medical Centre Groningen, Department of Neurology, Groningen, the Netherlands.

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http://dx.doi.org/10.1002/mds.27627DOI Listing
March 2019

Quality of life in functional movement disorders is as altered as in organic movement disorders.

J Psychosom Res 2019 01 12;116:10-16. Epub 2018 Nov 12.

Brain and Spine Institute, UPMC UMRS 1127, INSERM U1127, CNRS UMR 7225, Paris, France; Department of Neurology, Avicenne University Hospital, Paris - Seine Saint-Denis University Hospitals, Bobigny, France.

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http://dx.doi.org/10.1016/j.jpsychores.2018.11.006DOI Listing
January 2019

Anti-GAD Antibody-associated Syndrome Presenting with Limb Myoclonus.

Tremor Other Hyperkinet Mov (N Y) 2018 1;8:590. Epub 2018 Nov 1.

Department of Neurology, Instituto Hospital de Base do Distrito Federal, Brasília, BR.

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http://dx.doi.org/10.7916/D8NK4XVPDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6315060PMC
March 2019

Tremor Associated with Chronic Inflammatory Demyelinating Polyneuropathy and Anti-Neurofascin-155 Antibodies.

Tremor Other Hyperkinet Mov (N Y) 2018 4;8:606. Epub 2018 Dec 4.

Department of Neurology, AP-HP, Pitié-Salpêtrière Hospital, Paris, FR.

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http://dx.doi.org/10.7916/D81560ZWDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6312907PMC
March 2019

Cerebral folate deficiency in adults: A heterogeneous potentially treatable condition.

J Neurol Sci 2019 01 10;396:112-118. Epub 2018 Nov 10.

AP-HP, Pitié-Salpêtrière University Hospital, Department of Neurology, Paris, France; AP-HP, Robert Debré University Hospital, Department of Biochemistry, Paris, France; Lip(Sys)(2), Université Paris Sud, Orsay, France; MedDay Pharmaceuticals, 96 Boulevard Haussmann, Paris, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S0022510X183046
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http://dx.doi.org/10.1016/j.jns.2018.11.014DOI Listing
January 2019

Predictors of alcohol responsiveness in dystonia.

Neurology 2018 11 19;91(21):e2020-e2026. Epub 2018 Oct 19.

From the Institute of Neurogenetics (J. Junker, V.B., A.W., N.B.) and Department of Neurology (J. Junker, N.B.), University of Luebeck, Germany; Department of Psychology (V.B.), Centre for Innovation in Mental Health, University of Southampton, UK; Department of Neurology (B.D.B.), University of Colorado Anschutz Medical Campus, Aurora; Neurology Section (B.D.B.), Denver VA Medical Center, CO; Département de Neurologie (M.V., E.R.), Hôpital Pitié-Salpêtrière, Assistance Publique-Hopitaux de Paris; Sorbonne Universités (M.V.), Pierre Marie Curie Paris-6, Institute of Brain and Spine (ICM), Inserm U 1127, Paris, France; Department of Neurology (C.C.), Rush University Medical Center, Chicago, IL; Department of Neurology (I.A.M.), Center for Movement Disorders and Neurorestoration, University of Florida, Gainesville; Department of Neurology (J. Jankovic), Baylor College of Medicine, Houston, TX; Department of Neurology (M.S.L.), University of Tennessee Health Science Center, Memphis; Neuromed Institute (IRCCS) (A.B.), Pozzilli (IS), and Department of Neurology and Psychiatry, Sapienza University di Roma, Italy; Department of Neurology (R.B.), University of Rochester Medical Center, NY; Department of Neurology (S.G.R.), University of Maryland Medical Center, Baltimore; Department of Neurology (J.S.P.), Washington University in St. Louis, MO; and Department of Neurology and Human Genetics (H.A.J.), Emory University, Atlanta, GA.

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http://dx.doi.org/10.1212/WNL.0000000000006551DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6260199PMC
November 2018

Systematic review of movement disorders and oculomotor abnormalities in Whipple's disease.

Mov Disord 2018 11 19;33(11):1700-1711. Epub 2018 Oct 19.

Movement Disorders Research Center, Toront Western Hospital, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/mds.27419DOI Listing
November 2018

Long-term GPi-DBS improves motor features in myoclonus-dystonia and enhances social adjustment.

Mov Disord 2019 01 9;34(1):87-94. Epub 2018 Oct 9.

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

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http://dx.doi.org/10.1002/mds.27474DOI Listing
January 2019

Making a 'JUMP' from paediatric to adult healthcare: A transitional program for young adults with chronic neurological disease.

J Neurol Sci 2018 12 26;395:77-83. Epub 2018 Sep 26.

APHP, Hôpital Salpêtrière, Département of Neurologie, Paris, France; Sorbonne Université, Faculté de Médecine, CNRS UMR 7225, UMR S1127 Institut du Cerveau et de la Moelle Épinière, France.

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http://dx.doi.org/10.1016/j.jns.2018.09.030DOI Listing
December 2018

Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect.

Orphanet J Rare Dis 2018 10 1;13(1):175. Epub 2018 Oct 1.

Reference Centre for Lysosomal Diseases (CRML), Department of Pediatric Neurology, and Sorbonne Université, GRC n°19, Pathologies Congénitales du Cervelet-LeucoDystrophies, AP-HP, Hôpital Armand Trousseau, F-75012, Paris, France.

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https://ojrd.biomedcentral.com/articles/10.1186/s13023-018-0
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http://dx.doi.org/10.1186/s13023-018-0913-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6167825PMC
October 2018

Single-Step Rapid Diagnosis of Dopamine and Serotonin Metabolism Disorders.

ACS Omega 2017 Sep 19;2(9):5962-5972. Epub 2017 Sep 19.

Letiam, Lip(Sys), EA7357, IUT d'Orsay, Université Paris Sud, Plateau de Moulon, 91400 Orsay, France.

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http://dx.doi.org/10.1021/acsomega.7b01008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6044980PMC
September 2017

Myoclonus-dystonia: classification, phenomenology, pathogenesis, and treatment.

Curr Opin Neurol 2018 08;31(4):484-490

Sorbonne Université, Faculté de Médecine.

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http://dx.doi.org/10.1097/WCO.0000000000000577DOI Listing
August 2018

Miming neurological syndromes improves medical student's long-term retention and delayed recall of neurology.

J Neurol Sci 2018 08 7;391:143-148. Epub 2018 Jun 7.

Faculty of Medicine of Sorbonne University, University Pierre-et-Marie-Curie (UPMC), 91, boulevard de l'Hôpital, 75013 Paris, France; Department of Internal Medicine, Hôpital Tenon, AP-HP, 4, rue de la Chine, 75020 Paris, France.

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http://dx.doi.org/10.1016/j.jns.2018.06.003DOI Listing
August 2018

The expanding spectrum of paroxysmal movement disorders: update from clinical features to therapeutics.

Curr Opin Neurol 2018 08;31(4):491-497

Department of Neurology, University Hospital Galway.

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http://dx.doi.org/10.1097/WCO.0000000000000576DOI Listing
August 2018

Adult-onset Generalized Dystonia as the Main Manifestation of MEGDEL Syndrome.

Tremor Other Hyperkinet Mov (N Y) 2018 18;8:554. Epub 2018 Apr 18.

Sorbonne Universités, UPMC-Paris 6, UMR S 1127, ICM, Paris, France.

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http://dx.doi.org/10.7916/D8VM5VBQDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5910540PMC
November 2018

Phenotypes, genotypes, and the management of paroxysmal movement disorders.

Dev Med Child Neurol 2018 06 30;60(6):559-565. Epub 2018 Mar 30.

Department of Molecular Neuroscience, Reta Lila Weston Institute of Neurological Studies, UCL Institute of Neurology, London, UK.

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http://dx.doi.org/10.1111/dmcn.13744DOI Listing
June 2018

Treatment with chenodeoxycholic acid in cerebrotendinous xanthomatosis: clinical, neurophysiological, and quantitative brain structural outcomes.

J Inherit Metab Dis 2018 09 20;41(5):799-807. Epub 2018 Mar 20.

Centre de Référence Neurométabolique Adulte, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.

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http://dx.doi.org/10.1007/s10545-018-0162-7DOI Listing
September 2018

Further evidence for a distinctive atypical degenerative parkinsonism in the Caribbean: A new cluster in the French West Indian Island of Martinique.

J Neurol Sci 2018 05 6;388:214-219. Epub 2018 Feb 6.

Institut National de la Santé et de la Recherche Médicale, U 1127, CNRS, Unité Mixte de Recherche (UMR) 7225, Université de la Sorbonne, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France; AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Neurologie, Paris F-75013, France.

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http://dx.doi.org/10.1016/j.jns.2018.02.019DOI Listing
May 2018

Targeted versus untargeted omics - the CAFSA story.

J Inherit Metab Dis 2018 05 8;41(3):447-456. Epub 2018 Feb 8.

Université Pierre et Marie Curie, Groupe de Recherche Clinique Neurométabolique et Centre de Référence Neurométabolique Adulte, Paris, France.

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http://dx.doi.org/10.1007/s10545-017-0134-3DOI Listing
May 2018

A simple way to distinguish essential tremor from tremulous Parkinson's disease.

Brain 2017 07;140(7):1820-1822

Departments of Neurology, Human Genetics and Pediatrics Emory University School of Medicine, Atlanta, Georgia, USA.

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http://dx.doi.org/10.1093/brain/awx140DOI Listing
July 2017

New insight in spiral drawing analysis methods - Application to action tremor quantification.

Clin Neurophysiol 2017 10 17;128(10):1823-1834. Epub 2017 Jul 17.

Inserm U 1127, CNRS UMR 7225, Université de la Sorbonne, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle Epinière, F-75013, Paris, France; Département de Neurologie, Hôpital Pitié-Salpêtrière, AP-HP, Paris, France.

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http://dx.doi.org/10.1016/j.clinph.2017.07.002DOI Listing
October 2017

Dopamine and serotonin levels in cerebrospinal fluid during episodes of Kleine-Levin syndrome.

Sleep Med 2017 08 27;36:184-185. Epub 2017 May 27.

Sleep Disorders Unit, Pitié-Salpêtrière University Hospital, AP-HP, Paris, France; University-Hospital Institute, ICM, UPMC-Paris 6, Inserm U 1127, CNRS UMR 722, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.sleep.2017.05.001DOI Listing
August 2017

Evidence for dopaminergic denervation in classical galactosemia.

Mov Disord 2017 06 3;32(6):940-942. Epub 2017 Apr 3.

Université de Lyon, Université Lyon 1, Faculté de Médecine et de maïeutique Lyon Sud Charles Mérieux, Lyon, France.

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http://dx.doi.org/10.1002/mds.26980DOI Listing
June 2017

Teaching Video Neuro Hyperekplexia: A syndrome of pathologic startle responses.

Neurology 2017 03;88(13):e126-e127

From APHP, Department of Neurology (L-L.M., E.H., M.M., E.R.), Salpêtrière Hospital, Paris; APHP, Department of Neurophysiology (E.A.), Saint Antoine Hospital, Paris; and Sorbonne Universités (E.H., E.A, E.R.), UPMC Univ Paris 06, INSERM U 1127, CNRS UMR 7225, Institut du Cerveau et de la Moelle épinière, Paris, France.

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http://dx.doi.org/10.1212/WNL.0000000000003766DOI Listing
March 2017

Alternating Upper Limb Monoplegia due to ATP1A3 Mutation.

Pediatr Neurol 2017 Mar 5;68:79-80. Epub 2017 Jan 5.

Sorbonne Universités, UPMC Univ Paris 06, INSERM U 1127, CNRS UMR 7225, Institut du Cerveau et de la Moelle épinière, Paris, France; Département de Neurologie, APHP, Hôpital Pitié Salpêtrière, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2016.12.001DOI Listing
March 2017

Lessons I have learned from my patients: everyday life with primary orthostatic tremor.

J Clin Mov Disord 2017 12;4. Epub 2017 Jan 12.

Centre de Neuroimagerie de Recherche (CENIR), Institut du Cerveau et de la Moelle, ICM, F-75013 Paris, France.

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http://dx.doi.org/10.1186/s40734-016-0048-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5234118PMC
January 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

Congenital Mirror Movements Due to RAD51: Cosegregation with a Nonsense Mutation in a Norwegian Pedigree and Review of the Literature.

Tremor Other Hyperkinet Mov (N Y) 2016 3;6:424. Epub 2016 Nov 3.

Sorbonne Universités, UPMC Univ Paris 06, INSERM U1127, CNRS UMR 7225, Institut du Cerveau et de la Moelle épinière, Paris, France; Département de Neurologie, AP-HP, Hôpital Pitié-Salpêtrière, Paris, France.

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http://dx.doi.org/10.7916/D8BK1CNFDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5099496PMC
November 2016

The corticospinal tract: Evolution, development, and human disorders.

Dev Neurobiol 2017 07 14;77(7):810-829. Epub 2016 Oct 14.

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

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http://dx.doi.org/10.1002/dneu.22455DOI Listing
July 2017

Expanding the Spectrum of Genes Involved in Huntington Disease Using a Combined Clinical and Genetic Approach.

JAMA Neurol 2016 09;73(9):1105-14

Assistance Publique-Hôpitaux de Paris, Pitié-Salpêtrière University Hospital, Department of Genetics, Paris, France3Institut du Cerveau et de la Moelle Epinière, Paris, France4Institut National de la Santé et de la Récherche Médicale Unité 1127, Centre National de la Recherche Scientifique Unité Mixte de Recherche 7225, Sorbonne Universités, Université Pierre et Marie Curie University Paris 06 Unité Mixte de Recherche S1127, Paris, France.

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http://dx.doi.org/10.1001/jamaneurol.2016.2215DOI Listing
September 2016

Progressive Ataxia and Palatal Tremor: Think about POLG Mutations.

Tremor Other Hyperkinet Mov (N Y) 2016 2;6:382. Epub 2016 May 2.

Département de Neurologie, Assistance Publique - Hôpitaux de Paris, Hôpital de la Pitié Salpêtrière, Paris, France; Inserm U 1127, Sorbonne Universités, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France.

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http://dx.doi.org/10.7916/D86M36RKDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4862008PMC
June 2016

Paroxysmal Exercise-induced Dyskinesias Caused by GLUT1 Deficiency Syndrome.

Tremor Other Hyperkinet Mov (N Y) 2016 4;6:371. Epub 2016 Mar 4.

Institut du Cerveau et de la Moelle épinière, ICM, Paris, France; Département de Neurologie, Assistance Publique - Hôpitaux de Paris, Hôpital de la Pitié Salpêtrière, Paris, France; Sorbonne Universités, Université Pierre et Marie Curie (Paris VI), Paris, France; Institut National de la Santé et de la Recherche Médicale (Inserm), Unité 1127, Paris, France; Centre National de la Recherche Scientifique (CNRS), Unité 7225, Paris, France.

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http://www.tremorjournal.org/index.php/tremor/article/view/3
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http://dx.doi.org/10.7916/D89W0F96DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4790204PMC
June 2016

Orthostatic tremor: a cerebellar pathology?

Brain 2016 08 21;139(Pt 8):2182-97. Epub 2016 Jun 21.

2 Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, Paris, France 3 CNRS, UMR 7225, Paris, France 4 Inserm, U 1127, Paris, France 8 AP-HP, Hôpital de la Pitié Salpêtrière, Département de Neurologie, Paris, France.

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http://dx.doi.org/10.1093/brain/aww140DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4958903PMC
August 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:

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http://dx.doi.org/10.1016/j.pediatrneurol.2016.03.004DOI Listing
July 2016

Executive functioning and risk-taking behavior in Parkinson's disease patients with impulse control disorders.

J Neural Transm (Vienna) 2016 06 16;123(6):573-81. Epub 2016 Apr 16.

Département des Maladies du Système Nerveux, Sorbonne Universités, UPMC Univ Paris 06, and INSERM UMRS_1127 and CIC_1422, and CNRS UMR_7225, and AP-HP, and ICM, Hôpital Pitié-Salpêtrière, 75013, Paris, France.

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http://dx.doi.org/10.1007/s00702-016-1549-yDOI Listing
June 2016

Natural history of cerebrotendinous xanthomatosis: a paediatric disease diagnosed in adulthood.

Orphanet J Rare Dis 2016 Apr 16;11:41. Epub 2016 Apr 16.

AP-HP, UF Neurométabolique Bioclinique et Génétique, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.

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http://ojrd.biomedcentral.com/articles/10.1186/s13023-016-04
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http://dx.doi.org/10.1186/s13023-016-0419-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4833925PMC
April 2016

A randomized, controlled, double-blind, crossover trial of zonisamide in myoclonus-dystonia.

Neurology 2016 May 6;86(18):1729-35. Epub 2016 Apr 6.

From Université de la Sorbonne UPMC Paris 06 UMR S 1127 (E.H., M.V., V.B., C.H., D.G., A. Méneret, S. Dupont, E.A., J.-C.C., E.R.), Inserm U 1127, CIC-1422, CNRS UMR 7225, Institut du Cerveau et de la Moëlle, Paris; Département des Maladies du Système Nerveux (E.H., M.V., C.H., B.D., C.B., D.G., J.-C.C., E.R.), Département de Biostatistiques, Unité de Recherche Clinique (N.C., A.B., A. Mallet), Pharmacie (F.C.-B.), Département de Pharmacologie (N.Z.), Département de Génétique, UF de Neurogénétique Moléculaire et Cellulaire (F.C.), and Département d'Epilepsie et de Réhabilitation (S. Dupont), Hôpital Pitié-Salpêtrière, AP-HP; Unité de Neurophysiologie (E.H., E.A.), Département DéPAS, Hôpital Saint-Antoine, AP-HP, Paris; Hospices Civils de Lyon (S.T.), Hôpital Neurologique Pierre Wertheimer; Université Lyon 1 (S.T.); CNRS (S.T.), Centre de Neurosciences Cognitives, UMR 5229, Bron; Département de Neurologie (C.T.), Hôpital de Hautepierre, CHU Strasbourg; Fédération de Médecine translationnelle de Strasbourg (FMTS) (C.T.), Strasbourg, France; Département de Neurologie (G.G.), Hôpital Brugmann, Bruxelles, Belgium; Département de Neurologie (S.Drapier), Hôpital Pontchaillou, CHU Rennes; EA-4712 "Comportement et Noyaux Gris Centraux" (S. Drapier), Université de Rennes 1; Département de Neurologie et Pathologies du Movement (E.M.) and Département de Neurologie (T.L.), CHU de Lille; INSERM UMR-S 1172 (E.M.), Lille; Département de Neurologie (A.D.D.M.), Hôpital Maison Blanche, CHU de Reims; Centre Memoire de Ressources et de Recherche (CMRR) (T.L.), Lille; ESPCI Paris Tech (A.-P.L.), PSL Research University; and Département de Neurologie et Pathologie du Movement (J.-P.A.), Pôle Neurosciences Cliniques, INT-CNRS/AMU Aix-Marseille, France.

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http://dx.doi.org/10.1212/WNL.0000000000002631DOI Listing
May 2016

Illusion of agency in patients with Gilles de la Tourette Syndrome.

Cortex 2016 Apr 17;77:132-140. Epub 2016 Feb 17.

Sorbonne Universités, UPMC Univ Paris 06, UMR S 975, CNRS UMR 7225, ICM, Paris, France; Assistance Publique-Hôpitaux de Paris, Department of Neurology, Groupe Hospitalier Pitié-Salpêtrière, Paris, France; French National Reference Centre for Gilles de la Tourette Syndrome, Groupe Hospitalier Pitié-Salpêtrière, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.cortex.2016.02.003DOI Listing
April 2016

Motor and non-motor symptoms in functional parkinsonism responsive to transcranial magnetic stimulation: a case report.

J Neurol 2016 Apr 25;263(4):816-7. Epub 2016 Feb 25.

Département des Maladies du Système Nerveux, Centre Inter-Régional de Coordination de la Maladie de Parkinson, Groupe Hospitalier Pitié-Salpêtrière, APHP, 47-83 Boulevard de l'Hôpital, 75013, Paris Cedex 13, France.

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http://dx.doi.org/10.1007/s00415-016-8061-zDOI Listing
April 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

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.

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

Enhanced habit formation in Gilles de la Tourette syndrome.

Brain 2016 Feb 21;139(Pt 2):605-15. Epub 2015 Oct 21.

1 Sorbonne Universités, UPMC Univ Paris 06, UMR S 975, CNRS UMR 7225, ICM, F-75013, Paris, France 2 Assistance Publique-Hôpitaux de Paris, Department of Neurology, Groupe Hospitalier Pitié-Salpêtrière, 47 boulevard de l'Hôpital, F-75013, Paris, France 9 French Reference Centre for Gilles de la Tourette Syndrome, Groupe Hospitalier Pitié-Salpêtrière, 47 boulevard de l'Hôpital, F-75013, Paris, France

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http://dx.doi.org/10.1093/brain/awv307DOI Listing
February 2016

Reply to Piano et al.

Sleep Med 2016 04 28;20:174-5. Epub 2015 Aug 28.

APHP, Sleep Disorder Unit, Pitié-Salpêtrière University Hospital, Paris, France; Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière - Université Pierre et Marie Curie-Paris 6, Inserm UMR_S 975, CNRS UMR 7225, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S13899457150090
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http://dx.doi.org/10.1016/j.sleep.2015.08.009DOI Listing
April 2016

Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation.

Dev Med Child Neurol 2015 Dec 23;57(12):1183-6. Epub 2015 Sep 23.

Department of Genetics, AP-HP, La Pitié-Salpêtrière University Hospital, Paris, France.

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http://dx.doi.org/10.1111/dmcn.12927DOI Listing
December 2015

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:

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

One hand clapping: lateralization of motor control.

Front Neuroanat 2015 2;9:75. Epub 2015 Jun 2.

Inserm U1127, CNRS UMR 7225, Sorbonne Universités, UPMC UMR S1127, Institut du Cerveau et de la Moelle épinière, ICM Paris, France ; Département des Maladies du Système Nerveux, AP-HP, Hôpital Pitié Salpêtrière Paris, France.

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http://dx.doi.org/10.3389/fnana.2015.00075DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4451425PMC
June 2015

Congenital mirror movements caused by a mutation in the DCC gene.

Dev Med Child Neurol 2015 Aug 22;57(8):776. Epub 2015 May 22.

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.

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http://dx.doi.org/10.1111/dmcn.12810DOI Listing
August 2015

Chorea as the initial manifestation of Sjögren syndrome.

Pediatr Neurol 2015 Jun 3;52(6):647-8. Epub 2015 Mar 3.

Institut National de la Santé et de la Recherche Médicale (Inserm), Unité 1127, Paris, France; Centre National de la Recherche scientifique (CNRS), Unité 7225, Paris, France; Sorbonne Universités, Université Pierre et Marie Curie (Paris VI), Paris, France; Institut du Cerveau et de la Moelle épinière, ICM, Paris, France; Assistance Publique - Hôpitaux de Paris, Hôpital de la Pitié Salpêtrière, Département de Neurologie, Paris, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S08878994150010
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http://dx.doi.org/10.1016/j.pediatrneurol.2015.02.021DOI Listing
June 2015

Nocturnal agitation in Huntington disease is caused by arousal-related abnormal movements rather than by rapid eye movement sleep behavior disorder.

Sleep Med 2015 Jun 3;16(6):754-9. Epub 2015 Mar 3.

APHP, Sleep Disorder Unit, Pitié-Salpêtrière University Hospital, Paris, France; Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière, INSERM UMR_S 975, CNRS UMR 7225, Université Pierre et Marie Curie, Paris 6, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.sleep.2014.12.021DOI Listing
June 2015

Two cases of early dystonia of the trunk in Parkinson's disease.

J Neurol 2015 Jun 1;262(6):1579-80. Epub 2015 May 1.

Département de Neurologie, AP-HP, Hôpital de la Pitié Salpêtrière, 75013, Paris, France,

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http://dx.doi.org/10.1007/s00415-015-7747-yDOI Listing
June 2015

Pallidal activity in myoclonus dystonia correlates with motor signs.

Mov Disord 2015 Jun 16;30(7):992-6. Epub 2015 Apr 16.

Université Pierre et Marie Curie-Paris 6, Centre de Recherche de l'Institut du Cerveau et de la Moelle épiniere (CRICM), UMR-S975, Paris, France.

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http://dx.doi.org/10.1002/mds.26244DOI Listing
June 2015

Baseline Features Influencing the Effectiveness of Retraining Therapy for Writer's Cramp.

Mov Disord Clin Pract 2015 Sep 30;2(3):232-236. Epub 2015 Mar 30.

AP-HP Département de Neurologie Hôpital Pitié-Salpêtrière UPMC Université Pierre et Marie Curie Paris France.

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http://dx.doi.org/10.1002/mdc3.12153DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6178663PMC
September 2015