Philippe Latour

Philippe Latour

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Philippe Latour

Philippe Latour

Publications by authors named "Philippe Latour"

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A cryptic splicing mutation in the INF2 gene causing Charcot-Marie-Tooth disease with minimal glomerular dysfunction.

J Peripher Nerv Syst 2019 Mar 8;24(1):120-124. Epub 2019 Feb 8.

Centre de Biologie et de Pathologie Est, Hospices Civils de Lyon, Bron, France.

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http://doi.wiley.com/10.1111/jns.12308
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http://dx.doi.org/10.1111/jns.12308DOI Listing
March 2019

C9orf72 Protein Plasmatic Concentrations Are Similar between C9ORF72 Expansion Carriers and Noncarriers in Frontotemporal Dementia.

Dement Geriatr Cogn Disord 2018 27;46(3-4):180-185. Epub 2018 Sep 27.

Neurochemistry and Neurogenetics Laboratory, Department of Biochemistry, Lyon University Hospital, Bron, France.

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https://www.karger.com/Article/FullText/492963
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http://dx.doi.org/10.1159/000492963DOI Listing
January 2019

[Towards an harmonization of diagnosis by NGS of neuromuscular diseases - Actions of the Molecular Genetics sub-group of FILNEMUS].

Med Sci (Paris) 2018 Nov 12;34 Hors série n°2:20-22. Epub 2018 Nov 12.

CHRU Montpellier, Laboratoire de Génétique moléculaire, Montpellier, France - APHM, Département de Génétique Médicale, Hôpital Timone Enfants, Marseille, France.

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https://www.medecinesciences.org/10.1051/medsci/201834s206
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http://dx.doi.org/10.1051/medsci/201834s206DOI Listing
November 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

WES homozygosity mapping in a recessive form of Charcot-Marie-Tooth neuropathy reveals intronic GDAP1 variant leading to a premature stop codon.

Neurogenetics 2018 05 2;19(2):67-76. Epub 2018 Feb 2.

Centre de Référence de pathologie neuromusculaire Paris-Est, Institut de Myologie, GHU Pitié-Salpêtrière, Paris, France.

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http://dx.doi.org/10.1007/s10048-018-0539-7DOI Listing
May 2018

Contribution of tandem mass spectrometry to the diagnosis of lysosomal storage disorders.

J Inherit Metab Dis 2018 05 19;41(3):457-477. Epub 2018 Mar 19.

Unité Maladies Héréditaires du Métabolisme, Service de Biochimie et Biologie Moléculaire Grand Est, Centre de Biologie et de Pathologie Est, Hospices Civils de Lyon, 59 boulevard Pinel, 69677, Bron cedex, France.

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http://dx.doi.org/10.1007/s10545-017-0126-3DOI Listing
May 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

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

High intra-familiar clinical variability in MORC2 mutated CMT2 patients.

Brain 2017 04;140(4):e21

G-H Pitié-Salpêtrière, Institut de Myologie, centre de référence des maladies neuromusculaires Paris Est, France.

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http://dx.doi.org/10.1093/brain/awx019DOI Listing
April 2017

Abnormal dopamine transporter imaging in adult-onset Niemann-Pick disease type C.

Parkinsonism Relat Disord 2017 03 3;36:107-108. Epub 2017 Jan 3.

Department of Neurology, University Hospitals Leuven, Leuven, Belgium; Department of Neurosciences, KU Leuven, Leuven, Belgium. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2016.12.029DOI Listing
March 2017

Congenital hypomyelinating neuropathy due to the association of a truncating mutation in PMP22 with the classical HNPP deletion.

Neuromuscul Disord 2016 Apr-May;26(4-5):316-21. Epub 2016 Apr 5.

Department of Neurology, National Reference Center for Rare Peripheral Neuropathies, University Hospital, Limoges, France. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2016.01.004DOI Listing
January 2017

Increased mitochondrial fusion in a autosomal recessive CMT2A family with mitochondrial GTPase mitofusin 2 mutations.

J Peripher Nerv Syst 2016 12;21(4):365-369

PREMMi/Mitochondrial Medicine Research Centre, Institut MITOVASC, CNRS UMR 6214, INSERM U1083, Université d'Angers, CHU d'Angers, Angers, France.

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http://dx.doi.org/10.1111/jns.12192DOI Listing
December 2016

Hereditary and inflammatory neuropathies: a review of reported associations, mimics and misdiagnoses.

J Neurol Neurosurg Psychiatry 2016 10 23;87(10):1051-60. Epub 2016 Mar 23.

FILNEMUS, Filière nationale des Maladies neuromusculaires, Marseille, France Reference Centre for Neuromuscular Diseases and ALS, Centre Hospitalier Universitaire La Timone, Marseille, France Inserm UMR_S 910 Medical Genetics and Functional Genomics, Aix-Marseille University, Marseille, France.

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http://dx.doi.org/10.1136/jnnp-2015-310835DOI Listing
October 2016

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

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

Clinical and electrophysiological features in a French family presenting with seipinopathy.

Neuromuscul Disord 2015 Feb 22;25(2):161-4. Epub 2014 Oct 22.

Centre de Référence Maladies Neuromusculaires Nantes - Angers, CHU de Nantes, Nantes, France; Atlantic Gene Therapy, Biotherapy Institute for Rare Diseases, Nantes, France.

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http://dx.doi.org/10.1016/j.nmd.2014.10.006DOI Listing
February 2015

Author response.

Neurology 2014 Nov;83(21):1991

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November 2014

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

Charcot-Marie-Tooth disease type 2A: from typical to rare phenotypic and genotypic features.

JAMA Neurol 2014 Aug;71(8):1036-42

Département de Génétique et de Cytogénétique, GH Pitié-Salpêtrière, AP-HP, Paris, France7Institut National de la Santé et de la Recherche Médicale U 1127, Institut du Cerveau et de la Moelle Epiniere, Hôpital Pitié-Salpêtrière, Paris, France8Université Pi.

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http://dx.doi.org/10.1001/jamaneurol.2014.629DOI Listing
August 2014

Peripheral myelin protein 22 gene duplication with atypical presentations: a new example of the wide spectrum of Charcot-Marie-Tooth 1A disease.

Neuromuscul Disord 2014 Jun 13;24(6):524-8. Epub 2014 Apr 13.

Centre de référence «neuropathies périphériques rares», service et laboratoire de Neurologie, CHU Limoges, France.

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http://dx.doi.org/10.1016/j.nmd.2014.03.014DOI Listing
June 2014

Phenotypic spectrum and incidence of TRPV4 mutations in patients with inherited axonal neuropathy.

Neurology 2014 May 30;82(21):1919-26. Epub 2014 Apr 30.

From the Département de Neurologie (A.E.-L.), Hôpitaux Universitaires, Strasbourg; Centre de Référence Maladies Neuromusculaires Paris-Est (O.D., P.L., B.E., T.S.), APHP, Institut de Myologie, Paris; Département de Radiologie (P.C.), Hôpital de la Pitié-Salpêtrière, Paris; APHP (R.-Y.C.), HU PIFO, Service d'imagerie médicale, CIC-IT Handicap, Hôpital Poincaré, Garches; Département de Pédiatrie (P.S.), CHU de Reims; Centre de Référence Maladies Neuromusculaires Nantes-Angers (Y.P.), CHU de Nantes; Département de Neurologie (F.C.), CHU de Caen; EA 4271 GAD (C.T.-R.), IFR Santé STIC, Université de Bourgogne, Dijon; Centre de Référence (Anomalies de Développement et Syndromes Malformatifs) (C.T.-R.), CHU, Dijon; Centre de Biologie et de Pathologie Est (P.L.), Hospices Civils de Lyon, Bron, France.

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http://www.neurology.org/content/82/21/1919.full.pdf
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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000045
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http://dx.doi.org/10.1212/WNL.0000000000000450DOI Listing
May 2014

SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease.

Neurology 2013 Oct 11;81(17):1523-30. Epub 2013 Sep 11.

From the Département de Neurologie (A.E.-L.), Hôpitaux Universitaires, Strasbourg; INSERM U692 (A.E.-L.), Université de Strasbourg, France; Unit of Molecular Neurogenetics (D.G., L.M., M.Z.), Fondazione Istituto Neurologico Carlo Besta, Istituto di Ricovero e Cura a Carattere Scientifico, Milan, Italy; Service des Maladies Héréditaires du Métabolisme (M.C., M.M., S.P., B.M.deC.), Centre de Biotechnologie Cellulaire (I.R.), Unité de Cardiogénétique Moléculaire (D.B.), and Service de Neurobiologie (P.L.), Centre de Biologie et de Pathologie Est, CHU Lyon, Bron, France; and Département d'Anatomopathologie (B.L.), Hôpitaux Universitaires, Strasbourg, France.

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http://dx.doi.org/10.1212/WNL.0b013e3182a4a518DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3888171PMC
October 2013

A French family with Charcot-Marie-Tooth disease related to simultaneous heterozygous MFN2 and GDAP1 mutations.

Neuromuscul Disord 2012 Aug 28;22(8):735-41. Epub 2012 Apr 28.

Institut des Maladies Neurodégénératives, CNRS UMR 5293, Univ. Bordeaux, Bordeaux, France.

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http://dx.doi.org/10.1016/j.nmd.2012.04.001DOI Listing
August 2012

U1 snRNA mis-binding: a new cause of CMT1B.

Neurogenetics 2010 Feb 28;11(1):13-9. Epub 2009 May 28.

Laboratoire de Cardiogénétique Moléculaire, Centre de Biologie et Pathologie Est, Hospices Civils de Lyon, Bron, France.

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http://dx.doi.org/10.1007/s10048-009-0199-8DOI Listing
February 2010

A new MPZ mutation associated with a mild CMT1 phenotype presenting with recurrent nerve compression.

Muscle Nerve 2008 Aug;38(2):1055-9

Centre de Référence Maladies Neuromusculaires de l'Enfant et de l'Adulte Nantes-Angers, Hôtel Dieu 44093, Nantes Cedex, France.

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http://dx.doi.org/10.1002/mus.21050DOI Listing
August 2008

A novel mutation in the dynamin 2 gene in a Charcot-Marie-Tooth type 2 patient: clinical and pathological findings.

Neuromuscul Disord 2008 Apr 3;18(4):334-8. Epub 2008 Apr 3.

INSERM, U582, Institut de Myologie, Paris (F-75013), France.

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http://dx.doi.org/10.1016/j.nmd.2008.01.005DOI Listing
April 2008

NDRG1-linked Charcot-Marie-Tooth disease (CMT4D) with central nervous system involvement.

Neuromuscul Disord 2007 Feb 4;17(2):163-8. Epub 2006 Dec 4.

Département de Neurologie, Hôpital Civil de Strasbourg, 1 Place de l'Hôpital, BP426, 67091 Strasbourg, France.

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http://dx.doi.org/10.1016/j.nmd.2006.10.002DOI Listing
February 2007

Clinical, electrophysiological and molecular genetic studies in a family with X-linked dominant Charcot-Marie-Tooth neuropathy presenting a novel mutation in GJB1 Promoter and a rare polymorphism in LITAF/SIMPLE.

Neuromuscul Disord 2006 Jan 20;16(1):14-8. Epub 2005 Dec 20.

Unité de Neurophysiologie Clinique, Hôpital Yves Le Foll, 22023 Saint-Brieuc, France.

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http://dx.doi.org/10.1016/j.nmd.2005.09.008DOI Listing
January 2006

Charcot-Marie-Tooth disease type 1A: clinicopathological correlations in 24 patients.

J Peripher Nerv Syst 2005 Mar;10(1):85-92

Neuropathology Department, Victor Segalen University, Pessac, Bordeaux, France.

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http://dx.doi.org/10.1111/j.1085-9489.2005.10112.xDOI Listing
March 2005

Peripheral nerve biopsy study in 19 cases with 17p11.2 deletion.

J Neuropathol Exp Neurol 2004 Nov;63(11):1167-72

Department of Neuropathology, Laboratoire de Neurobiologie des Affections de la Myéline, Victor Segalen-Bordeaux 2 University, Bordeaux, France.

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http://dx.doi.org/10.1093/jnen/63.11.1167DOI Listing
November 2004

Inflammatory demyelination in a patient with CMT1A.

Muscle Nerve 2003 Sep;28(3):373-6

Department of Neuropathology, BP42, Victor Segalen University, 146 rue Léo-Saignat, 33076 Bordeaux, France.

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http://dx.doi.org/10.1002/mus.10404DOI Listing
September 2003