Frédéric Sedel

Frédéric Sedel

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Frédéric Sedel

Frédéric Sedel

Publications by authors named "Frédéric Sedel"

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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

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

Reply to the letter: Biotinidase deficiency masquerading as multiple sclerosis?

Mult Scler 2018 02 24;24(2):239. Epub 2017 Mar 24.

2 MedDay Pharmaceuticals, Paris, France.

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http://dx.doi.org/10.1177/1352458517702554DOI Listing
February 2018

Letter to the Editors - Multiple sclerosis and related disorders - Birnbaum et al., 2017.

Mult Scler Relat Disord 2018 02 1;20:204. Epub 2018 Feb 1.

Department of Neurology, CHU de Reims, and Faculté de Médecine de Reims, URCA, Reims, France, and Laboratoire de Psychopathologie et de Neuropsychologie, LPN 2027 Université Paris 8, Saint-Denis, France. Electronic address:

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http://dx.doi.org/10.1016/j.msard.2018.01.028DOI Listing
February 2018

Reply to Letter to the Editor: Biotin supplementation in MS clinically valuable but can alter multiple blood test results by Siddiqui U, et al.

Mult Scler 2017 04 7;23(4):620-621. Epub 2016 Dec 7.

2 MedDay Pharmaceuticals, Paris, France.

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http://dx.doi.org/10.1177/1352458516680752DOI Listing
April 2017

Evolution of structural neuroimaging biomarkers in a series of adult patients with Niemann-Pick type C under treatment.

Orphanet J Rare Dis 2017 02 2;12(1):22. Epub 2017 Feb 2.

Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC University Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France.

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http://dx.doi.org/10.1186/s13023-017-0579-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5289046PMC
February 2017

Cerebrospinal fluid metabolomics highlights dysregulation of energy metabolism in overt hepatic encephalopathy.

J Hepatol 2016 12 9;65(6):1120-1130. Epub 2016 Aug 9.

CEA, iBiTec-S, Service de Pharmacologie et d'Immunoanalyse, Laboratoire d'Etude du Métabolisme des Médicaments, MetaboHUB-Paris, Université Paris Saclay, 91191 Gif-sur-Yvette cedex, France. Electronic address:

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http://dx.doi.org/10.1016/j.jhep.2016.07.046DOI Listing
December 2016

Targeting demyelination and virtual hypoxia with high-dose biotin as a treatment for progressive multiple sclerosis.

Neuropharmacology 2016 Nov 5;110(Pt B):644-653. Epub 2015 Sep 5.

Department of Neurology and Faculté de Médecine de Reims, CHU de Reims, URCA, 45 Rue Cognacq Jay, 51092 Reims Cedex, France. Electronic address:

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https://pdfs.semanticscholar.org/5957/c95aac43f160130ac0d81c
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http://linkinghub.elsevier.com/retrieve/pii/S002839081530073
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http://dx.doi.org/10.1016/j.neuropharm.2015.08.028DOI Listing
November 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

Refsum Disease Presenting with a Late-Onset Leukodystrophy.

JIMD Rep 2015 21;19:7-10. Epub 2015 Jan 21.

Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France,

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http://link.springer.com/10.1007/8904_2014_355
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http://dx.doi.org/10.1007/8904_2014_355DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4501234PMC
July 2015

A diagnostic flow chart for POLG-related diseases based on signs sensitivity and specificity.

J Neurol Neurosurg Psychiatry 2015 Jun 11;86(6):646-54. Epub 2014 Aug 11.

INSERM U1016, Institut Cochin; CNRS UMR 8104, Paris, France Service de Biochimie Métabolique et Centre de Génétique moléculaire et chromosomique, AP-HP, GHU Pitié-Salpêtrière, Paris, France Université Paris-Descartes-Paris5, Paris, France.

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http://dx.doi.org/10.1136/jnnp-2013-306799DOI Listing
June 2015

High doses of biotin in chronic progressive multiple sclerosis: a pilot study.

Mult Scler Relat Disord 2015 Mar 24;4(2):159-69. Epub 2015 Jan 24.

Neurology Department, CHU de Reims & Faculté de Médecine de Reims, Champagne-Ardennes University, France; Laboratoire de Psychopathologie et de Neuropsychologie, EA 2027 Paris VIII University, Saint Denis, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S22110348150000
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http://dx.doi.org/10.1016/j.msard.2015.01.005DOI Listing
March 2015

Psychiatric manifestations of treatable hereditary metabolic disorders in adults.

Ann Gen Psychiatry 2014 24;13:27. Epub 2014 Sep 24.

Federation for Diseases of the Nervous System, Reference Centre for Lysosomal Diseases, Hospital Pitié Salpêtrière, Paris 75013, France.

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http://dx.doi.org/10.1186/s12991-014-0027-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4255667PMC
December 2014

Diagnostic and treatment implications of psychosis secondary to treatable metabolic disorders in adults: a systematic review.

Orphanet J Rare Dis 2014 Apr 28;9:65. Epub 2014 Apr 28.

Department of Child and Adolescent Psychiatry, Centre Hospitalier Universitaire de Nantes, Hôpital Mère-Enfant, 7 quai Moncousu, 44 000 Nantes, France.

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http://dx.doi.org/10.1186/1750-1172-9-65DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4043981PMC
April 2014

Phenotypic diversity associated with the MT-TV gene m.1644G>A mutation, a matter of quantity.

Mitochondrion 2014 Mar 29;15:34-9. Epub 2014 Mar 29.

AP-HP, Hôpital de La Salpêtrière, Service de Biochimie Métabolique et Centre de Génétique moléculaire et chromosomique, Paris F-75651, France; INSERM, UMRS 1016, Institut Cochin, Paris F-75014, France; CNRS, UMR 8104, Institut Cochin, Paris F-75014, France; Université René Descartes-Paris 5, Paris F-75014, France. Electronic address:

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http://dx.doi.org/10.1016/j.mito.2014.03.010DOI Listing
March 2014

POLG mutations associated with remitting/relapsing neurological events.

J Clin Neurosci 2014 Jan 2;21(1):186-8. Epub 2013 Jul 2.

Service de Neurologie et Faculté de Médecine, Université Champagne-Ardenne CHU de Reims, Reims, France; Laboratoire de psychopathologie et Neuropsychologie, EA2027 Université Paris, France.

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http://dx.doi.org/10.1016/j.jocn.2013.03.019DOI Listing
January 2014

Niemann-Pick disease type C symptomatology: an expert-based clinical description.

Orphanet J Rare Dis 2013 Oct 17;8:166. Epub 2013 Oct 17.

Department of Lysosomal Storage Disorder, Villa Metabolica, Center for Paediatric and Adolescent Medicine, University Medical Center of the Johannes Gutenberg University Mainz, Langenbeckstrasse 1, 55131 Mainz, Germany.

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http://dx.doi.org/10.1186/1750-1172-8-166DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3853996PMC
October 2013

Krabbe disease in adults: phenotypic and genotypic update from a series of 11 cases and a review.

J Inherit Metab Dis 2013 Sep 30;36(5):859-68. Epub 2012 Nov 30.

Department of Neurology, Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris and University Pierre&Marie Curie, Paris, France.

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http://dx.doi.org/10.1007/s10545-012-9560-4DOI Listing
September 2013

Blepharospasm as a new feature of cerebrotendinous xanthomatosis.

Parkinsonism Relat Disord 2013 Aug 25;19(8):764-5. Epub 2013 Apr 25.

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http://dx.doi.org/10.1016/j.parkreldis.2013.04.003DOI Listing
August 2013

Acute but transient neurological deterioration revealing adult polyglucosan body disease.

J Neurol Sci 2013 Jan 10;324(1-2):179-82. Epub 2012 Nov 10.

AP-HP, Service de neurologie, Hôpital Avicenne, Bobigny, France.

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http://dx.doi.org/10.1016/j.jns.2012.10.015DOI Listing
January 2013

Myoclonus and dystonia in cerebrotendinous xanthomatosis.

Mov Disord 2012 Dec 31;27(14):1805-10. Epub 2012 Oct 31.

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

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http://dx.doi.org/10.1002/mds.25206DOI Listing
December 2012

Portosystemic shunts: an underdiagnosed but treatable cause of neurological and psychiatric disorders.

J Neurol Sci 2012 Oct 17;321(1-2):58-64. Epub 2012 Aug 17.

Department of Neurology, Salpêtrière Hospital, Assistance Publique Hôpitaux de Paris, France.

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http://dx.doi.org/10.1016/j.jns.2012.07.050DOI Listing
October 2012

Treatable metabolic psychoses that go undetected: what Niemann-Pick type C can teach us.

Int J Psychiatry Clin Pract 2012 Sep 3;16(3):162-9. Epub 2012 Jul 3.

Klinik und Poliklinik für Psychiatrie, Psychosomatik und Psychotherapie der Universität Regensburg am Bezirksklinikum, Regensburg, Germany.

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http://dx.doi.org/10.3109/13651501.2012.687451DOI Listing
September 2012

A serine synthesis defect presenting with a Charcot-Marie-Tooth-like polyneuropathy.

Arch Neurol 2012 Jul;69(7):908-11

Department of Neurology, Pitié-Salpêtrière Hospital, Assistance Publique des Hôpitaux de Paris, France.

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http://dx.doi.org/10.1001/archneurol.2011.1526DOI Listing
July 2012

Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update.

Mol Genet Metab 2012 Jul 8;106(3):330-44. Epub 2012 May 8.

Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA.

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http://dx.doi.org/10.1016/j.ymgme.2012.03.012DOI Listing
July 2012

Medical and developmental risk factors of catatonia in children and adolescents: a prospective case-control study.

Schizophr Res 2012 May 7;137(1-3):151-8. Epub 2012 Mar 7.

Department of Child and Adolescent Psychiatry, Institut des Systèmes Intelligents et Robotiques, Université Pierre et Marie Curie, Hôpital Pitié-Salpêtrière, AP-HP, 47-83 Boulevard de l'Hôpital, 75013 Paris, France.

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http://dx.doi.org/10.1016/j.schres.2012.02.012DOI Listing
May 2012

A long nuclear-retained non-coding RNA regulates synaptogenesis by modulating gene expression.

EMBO J 2010 Sep 20;29(18):3082-93. Epub 2010 Aug 20.

Laboratoire de Biologie Cellulaire de la Synapse, Inserm 1024/CNRS 8197, Institut de Biologie de l'Ecole Normale Supérieure, Paris, France.

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http://dx.doi.org/10.1038/emboj.2010.199DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2944070PMC
September 2010

Biotin-responsive basal ganglia disease in ethnic Europeans with novel SLC19A3 mutations.

Arch Neurol 2010 Jan;67(1):126-30

Federation of Nervous System Diseases, Assistance Publique-Hôpitaux de Paris, Hôpital de la Salpêtrière, Université Pierre et Marie Curie, Paris CEDEX 13, France.

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http://dx.doi.org/10.1001/archneurol.2009.293DOI Listing
January 2010

[Central nervous system involvement in Gaucher disease].

Presse Med 2009 Dec;38 Suppl 2:2S11-6

Genzyme Corp, Etats-Unis, Boston, USA.

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http://dx.doi.org/10.1016/S0755-4982(09)73662-0DOI Listing
December 2009

Rapid onset frontal leukodystrophy with decreased diffusion coefficient and neuroaxonal spheroids.

J Neurol 2009 Oct 21;256(10):1649-54. Epub 2009 May 21.

Federation of Nervous System Diseases, Hôpital de la Salpêtrière, Assistance Publique-Hôpitaux de Paris, Université Pierre et Marie Curie (Paris VI), 47 Boulevard de l'Hôpital, 75651 Paris Cedex 13, France.

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http://dx.doi.org/10.1007/s00415-009-5172-9DOI Listing
October 2009

Parkinsonism in Gaucher's disease type 1: ten new cases and a review of the literature.

Mov Disord 2009 Jul;24(10):1524-30

Federation of Nervous System Diseases, Reference Center for Lysosomal Diseases, Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, France.

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http://dx.doi.org/10.1002/mds.22593DOI Listing
July 2009

24 month-treatment with miglustat of three patients with Niemann-Pick disease type C: follow up using brain spectroscopy.

Mol Genet Metab 2009 Feb 13;96(2):55-8. Epub 2008 Nov 13.

Department of Neuroradiology and Center for NeuroImaging Research-CENIR , Pitié-Salpêtrière Hospital, Assistance Publique Hôpitaux de Paris, France.

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http://dx.doi.org/10.1016/j.ymgme.2008.10.002DOI Listing
February 2009

Multidisciplinary approach of organic catatonia in children and adolescents may improve treatment decision making.

Prog Neuropsychopharmacol Biol Psychiatry 2008 Aug 7;32(6):1393-8. Epub 2008 Mar 7.

Département de Psychiatrie de l'Enfant et de l'Adolescent, GH Pitié-Salpétrière, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.

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http://dx.doi.org/10.1016/j.pnpbp.2008.02.015DOI Listing
August 2008

Therapy insight: inborn errors of metabolism in adult neurology--a clinical approach focused on treatable diseases.

Nat Clin Pract Neurol 2007 May;3(5):279-90

Department of Neurology at Salpêtrière Hospital, Paris, France.

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http://dx.doi.org/10.1038/ncpneuro0494DOI Listing
May 2007

The adult form of Niemann-Pick disease type C.

Brain 2007 Jan 26;130(Pt 1):120-33. Epub 2006 Sep 26.

Assistance Publique-Hôpitaux de Paris, Fédération des maladies du système nerveux, Paris, France.

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https://academic.oup.com/brain/article-lookup/doi/10.1093/br
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http://dx.doi.org/10.1093/brain/awl260DOI Listing
January 2007

Atypical Gilles de la Tourette Syndrome with beta-mannosidase deficiency.

Arch Neurol 2006 Jan;63(1):129-31

Fédération de Neurologie, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.

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http://dx.doi.org/10.1001/archneur.63.1.129DOI Listing
January 2006

Macrophage-derived tumor necrosis factor alpha, an early developmental signal for motoneuron death.

J Neurosci 2004 Mar;24(9):2236-46

Laboratoire de Biologie Cellulaire de la Synapse Normale et Pathologique, Institut National de la Santé et de la Recherche Médicale Unité 497, Ecole Normale Supérieure, 75005 Paris, France.

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http://dx.doi.org/10.1523/JNEUROSCI.4464-03.2004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6730439PMC
March 2004

Motoneuron-derived neurotrophin-3 is a survival factor for PAX2-expressing spinal interneurons.

J Neurosci 2002 Oct;22(20):8779-84

Laboratoire de Biologie Cellulaire de la Synapse Normale et Pathologique, Institut National de la Santé et de la Recherche Médicale U497, Ecole Normale Supérieure, 75005 Paris, France.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6757685PMC
October 2002