Marie T Vanier

Marie T Vanier

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Marie T Vanier

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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

Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update.

Neurol Clin Pract 2017 Dec;7(6):499-511

Mayo Clinic (MCP), Rochester, MN; UCL Great Ormond Street Institute of Child Health (PC, PG), London, UK; Great Ormond Street Hospital (PG), London, UK; Département de Neurologie (MA), Hôpital de Hautepierre, CHU de Strasbourg; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC) (MA), INSERM-U964/CNRS-UMR7104/Université de Strasbourg, Illkirch; Fédération de Médecine Translationnelle de Strasbourg (FMTS) (MA), Université de Strasbourg, France; Institute of Medical Genetics and Applied Genomics (PB), University Hospital of Tübingen; Centogene AG (PB), Rostock, Germany; Universitaire de Psychiatrie de l'Enfant et de l'Adolescent (OB), CHU de Nantes, France; Regional Coordinator Centre for Rare Diseases (AD), University Hospital Santa Maria della Misericordia, Udine, Italy; Division of Metabolism, Bambino Gesù Children's Hospital (CD-V), Rome, Italy; Klinik und Poliklinik für Psychiatrie, Psychosomatik und Psychotherapie der Universität Regensburg am Bezirksklinikum (H-HK), Regensburg, Germany; Hospices Civils de Lyon-Centre de Biologie et Pathologie Est (PL), Bron, France; University of São Paulo (HCFMRP-USP) (CML), Ribeirão Preto, SP, Brazil; Department of Medicine (DSO), Washington University, St Louis, MO; Child Development Centre (AP), Addenbrooke's Hospital, Cambridge, UK; University of Zaragoza (MP), IIS Aragon, Spain; Department of Neurology and German Center for Vertigo and Balance Disorders (MS), University Hospital Munich, Germany; Laboratoire Gillet-Mérieux (MTV), Centre de Biologie et Pathologie Est, Hospices Civils de Lyon, Bron, France; Department of Neuropsychiatry (MW), Royal Melbourne Hospital & University of Melbourne, Australia; and Universitätsklinikum Münster (TM), Germany.

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http://dx.doi.org/10.1212/CPJ.0000000000000399DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5800709PMC
December 2017

Limited benefits of presymptomatic cord blood transplantation in neurovisceral acid sphingomyelinase deficiency (ASMD) intermediate type.

Eur J Paediatr Neurol 2017 Nov 29;21(6):907-911. Epub 2017 Jul 29.

Reference Centre for Inborn Errors of Metabolism, Robert Debré University Hospital, APHP, Paris, France; UMR1141, PROTECT, INSERM, Université Paris Diderot, Sorbonne Paris Cité, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2017.07.015DOI Listing
November 2017

LC-MS/MS multiplex analysis of lysosphingolipids in plasma and amniotic fluid: A novel tool for the screening of sphingolipidoses and Niemann-Pick type C disease.

PLoS One 2017 27;12(7):e0181700. Epub 2017 Jul 27.

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

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0181700PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5531455PMC
September 2017

Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical review.

Mol Genet Metab 2016 08 7;118(4):244-54. Epub 2016 Jun 7.

Actelion Pharmaceuticals Ltd., Gewerbestrasse 16, 4123 Allschwil, Switzerland. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2016.06.004DOI Listing
August 2016

Efficacy and ototoxicity of different cyclodextrins in Niemann-Pick C disease.

Ann Clin Transl Neurol 2016 05 20;3(5):366-80. Epub 2016 Apr 20.

Dominick P. Purpura Department of Neuroscience Rose F. Kennedy Center Intellectual and Developmental Disabilities Research Center Albert Einstein College of Medicine Bronx New York 10461.

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http://dx.doi.org/10.1002/acn3.306DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4863749PMC
May 2016

Laboratory diagnosis of Niemann-Pick disease type C: the filipin staining test.

Methods Cell Biol 2015 14;126:357-75. Epub 2015 Jan 14.

Laboratoire Gillet-Mérieux et Neurogénétique Moléculaire, Groupe Hospitalier Est, Hospices Civils de Lyon, Lyon, France.

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https://linkinghub.elsevier.com/retrieve/pii/S0091679X140002
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http://dx.doi.org/10.1016/bs.mcb.2014.10.028DOI Listing
October 2015

Complex lipid trafficking in Niemann-Pick disease type C.

Authors:
Marie T Vanier

J Inherit Metab Dis 2015 Jan 26;38(1):187-99. Epub 2014 Nov 26.

Institut National de la Santé et de la Recherche Médicale U820, Université Lyon-1 EA4611, Faculté de Médecine Lyon-Est, 7 Rue G. Paradin, 69008, Lyon, France,

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http://dx.doi.org/10.1007/s10545-014-9794-4DOI Listing
January 2015

Niemann-Pick C disease gene mutations and age-related neurodegenerative disorders.

PLoS One 2013 30;8(12):e82879. Epub 2013 Dec 30.

Neurologische Klinik und Poliklinik, Klinikum rechts der Isar, Technische Universität München, Munich, Germany ; Institut für Humangenetik, Helmholtz Zentrum München, Munich, Germany ; Institut für Humangenetik, Technische Universität München, Munich, Germany ; Munich Cluster for Systems Neurology, SyNergy, Munich, Germany ; Department of Neurology and Neurological Sciences and Center for Sleep Sciences and Medicine, Stanford University School of Medicine, Palo Alto, California, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0082879PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3875432PMC
September 2014

Lysosomal diseases: biochemical pathways and investigations.

Authors:
Marie T Vanier

Handb Clin Neurol 2013 ;113:1695-9

INSERM, U820, Université de Lyon, Faculté de Médecine Lyon-Est and Laboratoire de Neurobiologie Gillet-Mérieux, Hopitaux Est, Lyon, France. Electronic address:

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http://dx.doi.org/10.1016/B978-0-444-59565-2.00037-XDOI Listing
March 2014

Niemann-Pick diseases.

Authors:
Marie T Vanier

Handb Clin Neurol 2013 ;113:1717-21

INSERM, U820, Université de Lyon, Faculté de Médecine Lyon-Est, and Laboratoire de Neurobiologie Gillet-Mérieux, Hopitaux Est, Lyon, France. Electronic address:

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http://dx.doi.org/10.1016/B978-0-444-59565-2.00041-1DOI Listing
March 2014

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

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

Endosomal/lysosomal processing of gangliosides affects neuronal cholesterol sequestration in Niemann-Pick disease type C.

Am J Pathol 2011 Aug 2;179(2):890-902. Epub 2011 Jun 2.

Dominick P. Purpura Department of Neuroscience, Rose F. Kennedy Center, Albert Einstein College of Medicine, Bronx, New York 10461, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S000294401100423
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http://dx.doi.org/10.1016/j.ajpath.2011.04.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3157170PMC
August 2011

Macrophages counteract demyelination in a mouse model of globoid cell leukodystrophy.

J Neurosci 2011 Mar;31(10):3610-24

Department of Medical Sciences, School of Veterinary Medicine, University of Wisconsin-Madison, Madison, Wisconsin 53706, USA.

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http://dx.doi.org/10.1523/JNEUROSCI.6344-10.2011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3086602PMC
March 2011

Saposin C mutations in Gaucher disease patients resulting in lysosomal lipid accumulation, saposin C deficiency, but normal prosaposin processing and sorting.

Hum Mol Genet 2010 Aug 19;19(15):2987-97. Epub 2010 May 19.

Department of Hematology, Oncology and Molecular Medicine, Istituto Superiore di Sanitá, Viale Regina Elena 299, 00161 Roma, Italy.

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http://dx.doi.org/10.1093/hmg/ddq204DOI Listing
August 2010

Niemann-Pick disease type C.

Authors:
Marie T Vanier

Orphanet J Rare Dis 2010 Jun 3;5:16. Epub 2010 Jun 3.

Institut National de la Santé et de la Recherche Médicale, Unité 820, Faculté de Médecine Lyon-Est Claude Bernard, 7 Rue G, Paradin, F-69008, Lyon, France.

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http://dx.doi.org/10.1186/1750-1172-5-16DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2902432PMC
June 2010

[Niemann-Pick C disease: history, current research topics, biological and molecular diagnosis].

Authors:
Marie T Vanier

Arch Pediatr 2010 Jun;17 Suppl 2:S41-4

Unité 820, Faculté de Médecine Lyon-Est/Laennec, INSERM, Lyon cedex 8, France.

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http://dx.doi.org/10.1016/S0929-693X(10)70010-5DOI Listing
June 2010

Chronic cyclodextrin treatment of murine Niemann-Pick C disease ameliorates neuronal cholesterol and glycosphingolipid storage and disease progression.

PLoS One 2009 Sep 11;4(9):e6951. Epub 2009 Sep 11.

Dominick P. Purpura Department of Neuroscience, Rose F. Kennedy Center for Research in Mental Retardation and Human Development, Albert Einstein College of Medicine, Bronx, New York, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0006951PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2736622PMC
September 2009

Secondary lipid accumulation in lysosomal disease.

Biochim Biophys Acta 2009 Apr 9;1793(4):726-36. Epub 2008 Dec 9.

Dominick P. Purpura Department of Neuroscience, Rose F. Kennedy Center, Albert Einstein College of Medicine, 1410 Pelham Parkway South, Bronx, NY, USA.

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http://dx.doi.org/10.1016/j.bbamcr.2008.11.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4382014PMC
April 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

Neuropathology of the Mcoln1(-/-) knockout mouse model of mucolipidosis type IV.

J Neuropathol Exp Neurol 2009 Feb;68(2):125-35

Dominick P. Purpura Department of Neuroscience, Rose F. Kennedy Center for Research in Mental Retardation and Human Development, Albert Einstein College of Medicine, Bronx, New York, USA.

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http://dx.doi.org/10.1097/NEN.0b013e3181942cf0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4232971PMC
February 2009

Niemann-Pick disease type C2 presenting as fatal pulmonary alveolar lipoproteinosis: morphological findings in lung and nervous tissue.

Med Sci Monit 2008 Aug;14(8):CS71-5

Department of Pediatrics, Ullevål University Hospital, Oslo, Norway.

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August 2008

Metachromatic leukodystrophy without arylsulfatase A deficiency: a new case of saposin-B deficiency.

Eur J Paediatr Neurol 2008 Jan 5;12(1):46-50. Epub 2007 Jul 5.

Department of Neurology, Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles, Av. J.J. Crocq 15, 1020 Brussels, Belgium.

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http://dx.doi.org/10.1016/j.ejpn.2007.05.004DOI Listing
January 2008

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

GD3- and O-acetylated GD3-gangliosides in the GM2 synthase-deficient mouse brain and their immunohistochemical localization.

Proc Jpn Acad Ser B Phys Biol Sci 2006 Sep 21;82(6):189-96. Epub 2006 Sep 21.

Institute of Glycotechnology, Future Science and Technology Joint Research Center, Tokai University, Kanagawa, Japan .

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4338816PMC
http://dx.doi.org/10.2183/pjab.82.189DOI Listing
September 2006

Cholesterol depletion facilitates ubiquitylation of NPC1 and its association with SKD1/Vps4.

J Cell Sci 2006 Jul 6;119(Pt 13):2643-53. Epub 2006 Jun 6.

Department of Neurobiology, Tottori University Faculty of Medicine, Yonago 683-8503, Japan.

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http://dx.doi.org/10.1242/jcs.02993DOI Listing
July 2006

Biochemical and pathological evaluation of long-lived mice with globoid cell leukodystrophy after bone marrow transplantation.

Mol Genet Metab 2005 Sep-Oct;86(1-2):150-9

Department of Neurology, Jefferson Medical College, 1020 Locust Street, Room 394, Philadelphia, PA, USA.

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http://dx.doi.org/10.1016/j.ymgme.2005.06.023DOI Listing
January 2006

Niemann-Pick type C disease: subcellular location and functional characterization of NPC2 proteins with naturally occurring missense mutations.

Hum Mutat 2005 Jul;26(1):20-8

INSERM Unit 189, Lyon Sud Medical School, Oullins and Fondation Gillet-Mérieux, Lyon-Sud Hospital, Pierre Bénite, France.

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http://dx.doi.org/10.1002/humu.20173DOI Listing
July 2005

Niemann-Pick type C disease: importance of N-glycosylation sites for function and cellular location of the NPC2 protein.

Mol Genet Metab 2004 Nov;83(3):220-30

Inserm Unit 189, Lyon Sud Medical School, 69921 Oullins, France and Fondation Gillet-Mérieux, Lyon-Sud Hospital, 69495 Pierre Bénite Cedex, France.

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http://linkinghub.elsevier.com/retrieve/pii/S109671920400159
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http://dx.doi.org/10.1016/j.ymgme.2004.06.013DOI Listing
November 2004

Structure and function of the NPC2 protein.

Biochim Biophys Acta 2004 Oct;1685(1-3):14-21

INSERM Unit 189, Lyon-Sud Medical School and Fondation Gillet-Mérieux, Lyon-Sud University Hospital, 69495- Pierre-Bénite Cedex, France.

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http://dx.doi.org/10.1016/j.bbalip.2004.08.007DOI Listing
October 2004

Glucosylceramidase mass and subcellular localization are modulated by cholesterol in Niemann-Pick disease type C.

J Biol Chem 2004 Apr 2;279(17):17674-80. Epub 2004 Feb 2.

Department of Hematology, Istituto Superiore Sanita', 00161 Roma, Italy.

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http://dx.doi.org/10.1074/jbc.M313517200DOI Listing
April 2004

Prenatal diagnosis of Niemann-Pick diseases types A, B and C.

Authors:
Marie T Vanier

Prenat Diagn 2002 Jul;22(7):630-2

INSERM U189, Faculté de Médecine Lyon-Sud, 69921 Oullins Cedex, France.

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http://doi.wiley.com/10.1002/pd.368
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http://dx.doi.org/10.1002/pd.368DOI Listing
July 2002