Yann Nadjar

Yann Nadjar

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Yann Nadjar

Yann Nadjar

Publications by authors named "Yann Nadjar"

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Phosphoglycerate kinase deficiency: A nationwide multicenter retrospective study.

J Inherit Metab Dis 2019 Sep 8;42(5):803-808. Epub 2019 Apr 8.

Neurology Department, Hôpital Raymond Poincaré, Paris, France.

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http://dx.doi.org/10.1002/jimd.12087DOI Listing
September 2019

Cholic acid as a treatment for cerebrotendinous xanthomatosis in adults.

J Neurol 2019 Aug 21;266(8):2043-2050. Epub 2019 May 21.

Neurology Department, Reference Center for Lysosomal Diseases, Neurogenetics and Metabolism Unit, Hôpital Pitié-Salpêtrière, 47-83 boulevard de l'Hôpital, 75013, Paris, France.

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http://dx.doi.org/10.1007/s00415-019-09377-yDOI Listing
August 2019

Brain MRI features and scoring of leukodystrophy in adult-onset Krabbe disease.

Neurology 2019 Aug 23;93(7):e647-e652. Epub 2019 Jul 23.

From the Department of Neurology, Reference Center for Lysosomal Diseases, UF Neuro-Genetics and Metabolism (L.C., R.D., Y.N.), and Department of Neuroradiology (B.L.-Y., N.P., D.L.), Pitié-Salpêtrière Hospital, Paris; Service de Biochimie et Biologie Moléculaire Grand Est (R.F., M.P.), Unité Médicale Pathologies Métaboliques, Erythrocytaires et Dépistage Périnatal, Centre de Biologie et de Pathologie Est, Hospices Civils de Lyon, Bron; UMR 5305 CNRS/UCBL (R.F.), Lyon, France; Department of Medicine, Surgery and Neurosciences (A.F., S.S.), Unit of Neurology and Neurometabolic Diseases, Medical School, University of Siena; Neuroradiology Unit (A.C.), Azienda Ospedaliera Universitaria Senese, Siena, Italy; Department of Neurology (M.C.M., J.D.), Coimbra Hospital and University Centre, Portugal; Department of Neurology (S.H.K.), College of Medicine, Hanyang University, Seoul, Korea; Division of Neurology (H.A.), Hyogo Prefectural Amagasaki General Medical Center, Hyogo, Japan; Department of Neurology (B.A.), La Timone Hospital; Aix-Marseille University (B.A.), CNRS, CRMBM UMR, Marseille; Department of Neurology (X.A.), Montpellier University Hospital, France; Department of Neurology (Y.D.), Xuan Wu Hospital, Capital Medical University, Beijing, China; Department of Neurology (R.H.), Royal Brisbane Hospital, Brisbane, Australia; Laboratory of Neurogenetics of Motion and Department of Neuroradiology (R.L.P.), Montréal Neurological Institute and Hospital, McGill University, Montréal; Department of Radiology (C.L.), Department of Pathology and Laboratory Medicine (C.L.), International Collaboration on Repair Discoveries (ICORD) (C.L.), Department of Physics and Astronomy (C.L.), and Division of Endocrinology, Department of Medicine (S.M.S.), University of British Columbia, Vancouver, Canada; Department of Neurology (K.N.), Division of Clinical Medicine, Faculty of Medicine, University of Tsukuba, Ibaraki, Japan; Department of Radiology (R.R.), Uppsala University, Sweden; Department of Neurology and Hertie-Institute for Clinical Brain Research (L.S.), Eberhard-Karls-University; German Center of Neurodegenerative Diseases (DZNE) (L.S.), Tübingen, Germany; Department of Neurology (F.V.), Caen-Normandie University Hospital, Caen; Inserm U1077 (F.V.), EPHE, Caen-Normandie University, Caen, France; and Department of Neurology and Stroke (K.J.), Medical University of Lodz, Poland.

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http://dx.doi.org/10.1212/WNL.0000000000007943DOI Listing
August 2019

Genetic findings in adolescent and adult-onset leukodystrophies with hypomyelinating features.

J Neurol Neurosurg Psychiatry 2019 Jul 2;90(7):836-838. Epub 2018 Nov 2.

Department of Neurology, Reference Center for Lysosomal Diseases, Neuro-Genetic and Metabolism, Groupe Hospitalier Pitié-Salpêtrière (AP-HP), Paris, France

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http://dx.doi.org/10.1136/jnnp-2018-319214DOI Listing
July 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

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

Adolescence/adult onset MTHFR deficiency may manifest as isolated and treatable distinct neuro-psychiatric syndromes.

Orphanet J Rare Dis 2018 02 1;13(1):29. Epub 2018 Feb 1.

Neurology Department, Reference Center for Lysosomal Diseases, Neurogenetics and Metabolism Unit, AP-HP, GH Pitié-Salpêtrière-Charles Foix, 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/s13023-018-0767-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5796584PMC
February 2018

Cognitive impairment profile in adult patients with Niemann pick type C disease.

Orphanet J Rare Dis 2017 10 18;12(1):166. Epub 2017 Oct 18.

Neurology Department, Reference Center for Lysosomal Diseases, Hospital of Pitié-Salpêtrière, Paris, France.

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http://dx.doi.org/10.1186/s13023-017-0714-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5648435PMC
October 2017

Development of a new tandem mass spectrometry method for urine and amniotic fluid screening of oligosaccharidoses.

Rapid Commun Mass Spectrom 2017 Jun;31(11):951-963

Service de Biochimie et Biologie Moléculaire Grand Est, UM Pathologies Métaboliques, Erythrocytaires et Dépistage Périnatal, Centre de Biologie et de Pathologie Est, Hospices Civils de Lyon, France.

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http://dx.doi.org/10.1002/rcm.7860DOI Listing
June 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

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

The Susd2 protein regulates neurite growth and excitatory synaptic density in hippocampal cultures.

Mol Cell Neurosci 2015 Mar 25;65:82-91. Epub 2015 Feb 25.

Ecole Normale Supérieure, IBENS, INSERM U1024, 75005 Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.mcn.2015.02.007DOI Listing
March 2015

Elevated serum ferritin is associated with reduced survival in amyotrophic lateral sclerosis.

PLoS One 2012 14;7(9):e45034. Epub 2012 Sep 14.

Fédération des Maladies du Système Nerveux, APHP, Centre de référence maladies rares SLA, Hôpital Pitié-salpêtrière, Paris, France.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0045034PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3443244PMC
February 2013

Injection of interferon-beta in the morning decreases flu-like syndrome in many patients with multiple sclerosis.

Clin Neurol Neurosurg 2011 May 26;113(4):316-22. Epub 2011 Jan 26.

Service de Neurologie, Hôpital Henri Mondor, AP-HP, Université Paris Est, Créteil, France.

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http://dx.doi.org/10.1016/j.clineuro.2010.12.013DOI Listing
May 2011