Publications by authors named "Odile Boespflug-Tanguy"

99Publications

Catatonia in a patient with Aicardi-Goutières syndrome efficiently treated with immunoadsorption.

Schizophr Res 2020 Aug 19;222:484-486. Epub 2020 Jun 19.

INSERM UMR 1163, Laboratoire de Neurogénétique et Neuroinflammation, Paris, France; Service de Pédiatrie Générale, Maladies Infectieuses et Médecine Interne, Centre de référence des rhumatismes inflammatoires et maladies autoimmunes systémiques rares de l'enfant (RAISE), APHP Robert Debré, Paris, France; Service d'Immunologie-Hématologie et Rhumatologie Pédiatriques, APHP Necker-Enfants Malades, Paris, France.

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http://dx.doi.org/10.1016/j.schres.2020.05.064DOI Listing
August 2020

Dramatic efficacy of ofatumumab in refractory pediatric-onset AQP4-IgG neuromyelitis optica spectrum disorder.

Neurol Neuroimmunol Neuroinflamm 2020 05 25;7(3). Epub 2020 Feb 25.

From the AP-HP (E.M., C.P.), Pitié-Salpêtrière Hospital, Department of Neurology and Centre de Référence des Maladies Inflammatoires Rares du Cerveau et de la Moelle; Robert Debré Hospital (J.B.F.R., O.B.-T., D.G.), AP-HP Department of Child Neurology; Université de Paris (F.R., O.B.-T., D.G.); Department of Pediatric Neurology (K.D.), National Referral Center for Rare Inflammatory Brain and Spinal Diseases, Hôpitaux Universitaires Paris-Sud, Le Kremlin-Bicetre; Robert Debré Hospital (T.K.), AP-HP Departments of Child Nephrology, Paris; and Service de neurologie (R.M.), sclérose en plaques, pathologies de la myéline et neuro-inflammation, and Centre de Référence des Maladies Inflammatoires Rares du Cerveau et de la Moelle, Hôpital Neurologique Pierre Wertheimer, Hospices Civils de Lyon, Lyon/Bron, France.

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http://dx.doi.org/10.1212/NXI.0000000000000683DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7051209PMC
May 2020

KIF1C Variants Are Associated with Hypomyelination, Ataxia, Tremor, and Dystonia in Fraternal Twins.

Tremor Other Hyperkinet Mov (N Y) 2019 17;9. Epub 2019 Jul 17.

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

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http://dx.doi.org/10.7916/tohm.v0.641DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6692767PMC
January 2020

Expanding the phenotypic spectrum of Allan-Herndon-Dudley syndrome in patients with SLC16A2 mutations.

Dev Med Child Neurol 2019 12 13;61(12):1439-1447. Epub 2019 Aug 13.

Centre de Compétence des Leucodystrophies et Leucoencéphalopathies de Cause Rare, Pôle Femme et Enfant, Hôpital Estaing, Centre Hospitalier Universitaire de Clermont-Ferrand, Clermont-Ferrand, France.

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http://dx.doi.org/10.1111/dmcn.14332DOI Listing
December 2019

Confirmation of Atypical Presentation With Nonprogressive Leukodystrophy in eIF2B-Related Disorders.

Pediatr Neurol 2019 11 1;100:97-99. Epub 2019 Mar 1.

CHU Bordeaux, Service de Génétique Médicale, Bordeaux, France; Laboratoire MRGM, INSERM U1211, Univ. Bordeaux, Bordeaux, France; Centre de référence Neurogénétique, Service de Génétique Médicale, CHU Bordeaux, Bordeaux, France.

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http://dx.doi.org/10.1016/j.pediatrneurol.2019.02.005DOI Listing
November 2019

Mutation in causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulation.

Neurol Genet 2018 Dec 3;4(6):e289. Epub 2018 Dec 3.

INSERM UMR 1141 PROTECT (I.D., P.B., S.S., O.B.-T.), Université Paris Diderot- Sorbonne Paris Cité; INSERM U1212-CNRS UMR 5320 (H.D.-O., M.T.), Université de Bordeaux; Neurologie Pédiatrique et Maladies Métaboliques (K.B., F.R., O.B-.T.), Centre de référence des leucodystrophies et leucoencéphalopathies de cause rare (LEUKOFRANCE), CHU APHP Robert-Debré, Paris, France; LR11IPT05, Biomedical Genomics and Oncogenetics Laboratory (H.J., Y.B.), Institut Pasteur de Tunis; Department of Medical Genetics, UF Molecular Genetics (S.S.), CHU APHP Robert-Debré Paris; Service de Cytogénétique Médicale (E.E.P.), CHU Clermont-Ferrand; Neurologie Pédiatrique (C.C.), Endocrinologie Pédiatrique (C.B.), CHU Hôpital des Enfants, Toulouse; Hôpital Femme Mère Enfant, Neurologie Pédiatrique (A.L.P., C.R.), Hospices Civils de Lyon, Bron; Department of Pediatric Radiology (M.E.-B.), CHU APHP Robert-Debré, Paris, France.

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http://dx.doi.org/10.1212/NXG.0000000000000289DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6283457PMC
December 2018

Brain Diffusion Imaging and Tractography to Distinguish Clinical Severity of Human PLP1-Related Disorders.

Dev Neurosci 2018 27;40(4):301-311. Epub 2018 Sep 27.

Service de Neurologie Pédiatrique et Maladies Métaboliques, Centre de référence des leucodystrophies et leucoencéphalopathies de cause rare, CHU-APHP Robert-Debré, Paris, France.

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http://dx.doi.org/10.1159/000492218DOI Listing
March 2019

Rapid exhaustion of auditory neural conduction in a prototypical mitochondrial disease, Friedreich ataxia.

Clin Neurophysiol 2018 06 27;129(6):1121-1129. Epub 2018 Mar 27.

Laboratory of Neurosensory Biophysics, UMR INSERM 1107, University Clermont Auvergne, Clermont-Ferrand, France; Centre Jean Perrin, Clermont-Ferrand, France. Electronic address:

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http://dx.doi.org/10.1016/j.clinph.2018.03.005DOI Listing
June 2018

Further delineation of the duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features.

Authors:
Marguerite Miguet Laurence Faivre Jeanne Amiel Mathilde Nizon Renaud Touraine Fabienne Prieur Laurent Pasquier Mathilde Lefebvre Julien Thevenon Christèle Dubourg Sophie Julia Catherine Sarret Ganaëlle Remerand Christine Francannet Fanny Laffargue Odile Boespflug-Tanguy Albert David Bertrand Isidor Jacqueline Vigneron Bruno Leheup Laetitia Lambert Christophe Philippe Mylène Béri-Dexheimer Jean-Marie Cuisset Joris Andrieux Ghislaine Plessis Annick Toutain Laurent Guibaud Valérie Cormier-Daire Marlene Rio Jean-Paul Bonnefont Bernard Echenne Hubert Journel Lydie Burglen Sandrine Chantot-Bastaraud Thierry Bienvenu Clarisse Baumann Laurence Perrin Séverine Drunat Pierre-Simon Jouk Klaus Dieterich Françoise Devillard Didier Lacombe Nicole Philip Sabine Sigaudy Anne Moncla Chantal Missirian Catherine Badens Nathalie Perreton Christel Thauvin-Robinet Réseau AChro-Puce Jean-Michel Pedespan Caroline Rooryck Cyril Goizet Catherine Vincent-Delorme Bénédicte Duban-Bedu Nadia Bahi-Buisson Alexandra Afenjar Kim Maincent Delphine Héron Jean-Luc Alessandri Dominique Martin-Coignard Gaëtan Lesca Massimiliano Rossi Martine Raynaud Patrick Callier Anne-Laure Mosca-Boidron Nathalie Marle Charles Coutton Véronique Satre Cédric Le Caignec Valérie Malan Serge Romana Boris Keren Anne-Claude Tabet Valérie Kremer Sophie Scheidecker Adeline Vigouroux Marilyn Lackmy-Port-Lis Damien Sanlaville Marianne Till Maryline Carneiro Brigitte Gilbert-Dussardier Marjolaine Willems Hilde Van Esch Vincent Des Portes Salima El Chehadeh

J Med Genet 2018 Jun 4;55(6):359-371. Epub 2018 Apr 4.

Service de génétique médicale, Institut de Génétique Médicale d'Alsace (IGMA), Centre de Référence Maladies Rares "Anomalies du développement et syndromes malformatifs", Centre de Référence Maladies Rares "Des déficiences intellectuelles de causes rares", Hôpitaux Universitaires de Strasbourg, Hôpital de Hautepierre, Strasbourg, France.

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http://dx.doi.org/10.1136/jmedgenet-2017-104956DOI Listing
June 2018

Mutation in the AGK gene in two siblings with unusual Sengers syndrome.

Metab Brain Dis 2017 12 3;32(6):2149-2154. Epub 2017 Sep 3.

Service de Génétique Médicale, Hôpital Estaing, Centre Hospitalier Universitaire de Clermont-Ferrand, Clermont-Ferrand, France.

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http://dx.doi.org/10.1007/s11011-017-0101-6DOI Listing
December 2017

Lack of Long-Term Neurologic Efficacy of Zileuton in Sjögren-Larsson's Syndrome.

Neuropediatrics 2017 06 7;48(3):205-206. Epub 2017 Apr 7.

APHP, Service de Neurologie Pédiatrique et Maladies Métaboliques, Hôpital Robert Debré, Paris, France.

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http://dx.doi.org/10.1055/s-0037-1601856DOI Listing
June 2017

RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss-Another Mendelian Mimicker of Congenital Cytomegalovirus Infection.

Pediatr Neurol 2017 01 13;66:59-62. Epub 2016 Sep 13.

Department of Neurology, Children's National Medical Center, Washington, DC; Department of Integrated Systems Biology, George Washington University, Washington, DC; Department of Pediatrics, George Washington University, Washington, DC. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2016.09.003DOI Listing
January 2017

Transient neonatal renal failure and massive polyuria in MEGDEL syndrome.

Mol Genet Metab Rep 2016 Jun 10;7:8-10. Epub 2016 Mar 10.

Child Neurology, Hôpital Robert Debré, APHP, Paris, France; Reference Center for Inborn Errors of Metabolism, Robert Debré University Hospital, APHP, Paris, France; Inserm U1141 and Université Paris-Diderot, Sorbonne Paris Cité, site Robert Debré, Paris, France.

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http://dx.doi.org/10.1016/j.ymgmr.2016.03.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4908062PMC
June 2016

Clinical, radiological and possible pathological overlap of cystic leukoencephalopathy without megalencephaly and Aicardi-Goutières syndrome.

Eur J Paediatr Neurol 2016 Jul 7;20(4):604-10. Epub 2016 Apr 7.

Manchester Centre for Genomic Medicine, Institute of Human Development Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, United Kingdom; INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris, France; Paris Descartes, Sorbonne Paris Cité University, Institute Imagine, Paris, France.

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http://dx.doi.org/10.1016/j.ejpn.2016.03.009DOI Listing
July 2016

Time-course of myelination and atrophy on cerebral imaging in 35 patients with PLP1-related disorders.

Dev Med Child Neurol 2016 07 19;58(7):706-13. Epub 2016 Jan 19.

Inserm U1141 Paris Diderot Sorbonne University-Paris Cité, DHU PROTECT, Robert Debré Hospital, Paris, France.

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http://dx.doi.org/10.1111/dmcn.13025DOI Listing
July 2016

TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patients.

Eur J Paediatr Neurol 2016 Mar 28;20(2):323-330. Epub 2015 Nov 28.

Unit of Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesu' Children's Research Hospital, Rome, Italy.

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http://dx.doi.org/10.1016/j.ejpn.2015.11.006DOI Listing
March 2016

A novel mutation in the ABCD1 gene of a Moroccan patient with X-linked adrenoleukodystrophy: case report.

BMC Neurol 2015 Nov 25;15:244. Epub 2015 Nov 25.

Genetics and Molecular Pathology Laboratory, Medical school of Casablanca, Hassan II University, Casablanca, Morocco.

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http://dx.doi.org/10.1186/s12883-015-0503-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4660798PMC
November 2015

Atypical clinical and radiological course of a patient with Canavan disease.

Metab Brain Dis 2016 Apr 19;31(2):475-9. Epub 2015 Nov 19.

Inserm U1141 Paris Diderot Sorbonne University - Paris Cité, DHU PROTECT, Robert Debré Hospital, Paris, France.

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http://dx.doi.org/10.1007/s11011-015-9767-9DOI Listing
April 2016

Determination of arylsulfatase A pseudodeficiency allele and haplotype frequency in the Tunisian population.

Neurol Sci 2016 Mar 14;37(3):403-9. Epub 2015 Nov 14.

Laboratoire de Génomique Biomédicale et Oncogénétique, Institut Pasteur de Tunis, BP 74, 13 Place Pasteur, 1002, Tunis, Belvédère, Tunisia.

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http://dx.doi.org/10.1007/s10072-015-2417-5DOI Listing
March 2016

Screening for GFAP rearrangements in a cohort of Alexander disease and undetermined leukoencephalopathy patients.

Eur J Med Genet 2015 Sep 21;58(9):466-70. Epub 2015 Jul 21.

Inserm U1141, Paris Diderot University - Sorbonne Paris Cité, DHU PROTECT, Robert Debré Hospital, Paris, France; Reference Center for Leukodystrophies, Department of Neuropediatrics and Metabolic Diseases, Robert Debré Hospital, AP-HP, Paris, France.

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http://dx.doi.org/10.1016/j.ejmg.2015.07.002DOI Listing
September 2015

Efficient detection of frequent eIF2B mutations for the rapid molecular diagnosis of CACH/VWM syndrome.

Clin Biochem 2015 Dec 8;48(18):1317-23. Epub 2015 Jul 8.

Inserm U1141, Paris Diderot University, Sorbonne Paris Cité, DHU PROTECT, Robert Debré Hospital, Paris, France; Reference Center For Leukodystrophies, Department of Neuropediatrics and Metabolic Diseases, Robert Debré Hospital, AP-HP, Paris, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00099120150026
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http://dx.doi.org/10.1016/j.clinbiochem.2015.07.004DOI Listing
December 2015

Patient/family views on data sharing in rare diseases: study in the European LeukoTreat project.

Eur J Hum Genet 2016 Mar 17;24(3):338-43. Epub 2015 Jun 17.

Ethique médicale - EA 4569 - Université Paris Descartes, Sorbonne Paris Cité, Faculté de Médecine, Paris, France.

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http://www.nature.com/articles/ejhg2015115
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http://dx.doi.org/10.1038/ejhg.2015.115DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4755367PMC
March 2016

Cystic leukoencephalopathy with cortical dysplasia related to LAMB1 mutations.

Neurology 2015 May 29;84(21):2195-7. Epub 2015 Apr 29.

From Departments of Child Neurology, Radiology, Molecular Biology, Robert Debré Hospital, AP-HP (F.R., J.M.-P., M.E.-B., O.B.-T.), Université Paris Diderot-Sorbonne Paris Cité (O.B-T) and INSERM U1141-DHU Protect (D.T, F.R, D.R., O.B-T.), Paris, France; Department of Child Neurology, Neurological Institute C. Besta Foundation IRCCS (D.T.), Milan, Italy; Department of Child Neurology Armand Trousseau Hospital, AP-HP (D.R) and Sorbonne Universités, UPMC Université Paris 06 (D.R.), Paris, France; and Clermont-Ferrand University Hospital (H.D.), Clermont-Ferrand, France.

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http://dx.doi.org/10.1212/WNL.0000000000001607DOI Listing
May 2015

New spastic paraplegia phenotype associated to mutation of NFU1.

Orphanet J Rare Dis 2015 Feb 8;10:13. Epub 2015 Feb 8.

Paris Diderot University - Sorbonne Paris Cité; Inserm U1141, DHU PROTECT, Robert Debré Hospital, Paris, France.

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http://dx.doi.org/10.1186/s13023-015-0237-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4333890PMC
February 2015

Adult-onset genetic leukoencephalopathies: a MRI pattern-based approach in a comprehensive study of 154 patients.

Brain 2015 Feb 19;138(Pt 2):284-92. Epub 2014 Dec 19.

1 Département de Neurologie, CHU de Montpellier, 34295 Montpellier, France

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http://brain.oxfordjournals.org/content/brain/138/2/284.full
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http://www.brain.oxfordjournals.org/cgi/doi/10.1093/brain/aw
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http://dx.doi.org/10.1093/brain/awu353DOI Listing
February 2015

Severe dystonia, cerebellar atrophy, and cardiomyopathy likely caused by a missense mutation in TOR1AIP1.

Orphanet J Rare Dis 2014 Nov 26;9:174. Epub 2014 Nov 26.

Service de neurologie pédiatrique et des maladies métaboliques, Hôpital Robert Debré, Assistance Publique des Hôpitaux de Paris, 75019, Paris, France.

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http://dx.doi.org/10.1186/s13023-014-0174-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4302636PMC
November 2014

Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia.

Neuropediatrics 2014 Dec 22;45(6):386-93. Epub 2014 Sep 22.

Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, United Kingdom.

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http://dx.doi.org/10.1055/s-0034-1389161DOI Listing
December 2014

MRI pattern approach of adult-onset inherited leukoencephalopathies.

Neurol Clin Pract 2014 Aug;4(4):287-295

Departments of Neurology (PL, CC-D, XA) and Neuroradiology (NMdC), CHU Montpellier; and Neuropédiatrie et Maladies Métaboliques and INSERM U676 (OB-T), National Reference Center for Leukodystrophies, Hôpital Robert Debré, Assistance Publique-Hôpitaux de Paris-Université Paris Diderot, Paris, France.

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http://cp.neurology.org/cgi/doi/10.1212/CPJ.0000000000000047
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http://dx.doi.org/10.1212/CPJ.0000000000000047DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5764526PMC
August 2014

Ethical management in the constitution of a European database for leukodystrophies rare diseases.

Eur J Paediatr Neurol 2014 Sep 14;18(5):597-603. Epub 2014 Apr 14.

Assistance Publique - Hôpitaux de Paris, HEGP - Hôpital Corentin Celton, Unité de Médecine Sociale, 92133 Issy-Les-Moulineaux, France.

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http://dx.doi.org/10.1016/j.ejpn.2014.04.002DOI Listing
September 2014

Late onset epileptic spasms is frequent in MECP2 gene duplication: electroclinical features and long-term follow-up of 8 epilepsy patients.

Eur J Paediatr Neurol 2014 Jul 26;18(4):475-81. Epub 2014 Mar 26.

APHP, Hôpital Robert Debré, Service de Neurologie Pédiatrique, 75019 Paris, France; Inserm, U676, 75019 Paris, France; Univ Paris Diderot, Sorbonne Paris Cité, INSERM UMR676, 75019 Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2014.03.005DOI Listing
July 2014

Mice with a deletion of the major central myelin protein exhibit hypersensitivity to noxious thermal stimuli: involvement of central sensitization.

Neurobiol Dis 2014 May 11;65:55-68. Epub 2014 Jan 11.

Clermont Université, Université d'Auvergne, Faculté de Médecine, BP 10448, F-63000 Clermont-Ferrand, France; Inserm U676, Hôpital Robert-Debré, Faculté de médecine Denis-Diderot, Université Paris-7, 75205 Paris cedex 13, France. Electronic address:

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http://dx.doi.org/10.1016/j.nbd.2014.01.005DOI Listing
May 2014

Inborn errors of brain myelin formation.

Handb Clin Neurol 2013 ;113:1581-92

National Reference Center for Rare Diseases "leukodystrophies", INSERM U676, Université Paris Diderot, Sorbonne Paris Cité Université and Pediatric Neurology and Metabolic Disease Service, Hôpital Robert Debré, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/B978-0-444-59565-2.00027-7DOI Listing
March 2014

Hemiconvulsion-hemiplegia-epilepsy syndrome: current understandings.

Eur J Paediatr Neurol 2012 Sep 14;16(5):413-21. Epub 2012 Feb 14.

Inserm, U676, Paris, France.

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http://dx.doi.org/10.1016/j.ejpn.2012.01.007DOI Listing
September 2012

Sjögren-Larsson syndrome: novel mutations in the ALDH3A2 gene in a French cohort.

J Neurol Sci 2012 Jan 26;312(1-2):123-6. Epub 2011 Aug 26.

Génétique, Reproduction et Développement, Unité Mixte de Recherche 931 (Institut National de la Santé et de la Recherche médicale), Faculté de médecine, Clermont-Ferrand, France.

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http://dx.doi.org/10.1016/j.jns.2011.08.006DOI Listing
January 2012

Evaluation of the endoplasmic reticulum-stress response in eIF2B-mutated lymphocytes and lymphoblasts from CACH/VWM patients.

BMC Neurol 2010 Oct 19;10:94. Epub 2010 Oct 19.

Faculté de Médecine, INSERM U931-CNRS 6247-Génétique, Reproduction et Développement, Clermont-Ferrand, France.

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http://dx.doi.org/10.1186/1471-2377-10-94DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2967530PMC
October 2010

A whole-genome scan in a large family with leukodystrophy and oligodontia reveals linkage to 10q22.

Neurogenetics 2011 Feb 19;12(1):73-8. Epub 2010 Aug 19.

Unité de Génétique Médicale et laboratoire associé INSERM à l'unité UMR_S 910, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon.

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http://dx.doi.org/10.1007/s10048-010-0256-3DOI Listing
February 2011

[Genetic demyelinating diseases].

Presse Med 2010 Mar 18;39(3):363-70. Epub 2010 Feb 18.

Département de neurologie, CHU de Montpellier-Nîmes, place du Pr-R.-Debré, 30029 Nîmes cedex, France.

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http://dx.doi.org/10.1016/j.lpm.2009.11.011DOI Listing
March 2010

Hereditary spastic paraplegia caused by the PLP1 'rumpshaker mutation'.

J Neurol Neurosurg Psychiatry 2010 Jun 1;81(6):666-72. Epub 2009 Dec 1.

Section of Neurogenetics, Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark.

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https://static-content.springer.com/esm/chp%3A10.1007%2F8904
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http://jnnp.bmj.com/cgi/doi/10.1136/jnnp.2009.180315
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http://dx.doi.org/10.1136/jnnp.2009.180315DOI Listing
June 2010

Identification of a new Arylsulfatase A (ARSA) gene mutation in Tunisian patients with metachromatic leukodystrophy (MLD).

J Neurol Sci 2009 Dec 21;287(1-2):278-80. Epub 2009 Aug 21.

Child Neurological Diseases Unit, Faculty of Medicine, Tunis, Tunisia.

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http://dx.doi.org/10.1016/j.jns.2009.07.023DOI Listing
December 2009

Pelizaeus-Merzbacher-Like disease presentation of MCT8 mutated male subjects.

Ann Neurol 2009 Jan;65(1):114-8

Institut National de la Sante et de la Recherche Mèdicale, U931, GReD CNRS 6247, Faculté de Médecine, Lyon, France.

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http://dx.doi.org/10.1002/ana.21579DOI Listing
January 2009

Intra-familial phenotypic heterogeneity in adult onset vanishing white matter disease.

Clin Neurol Neurosurg 2008 Dec 8;110(10):1068-71. Epub 2008 Oct 8.

CHU Bordeaux, Fédération des Neurosciences Cliniques, Hôpital Pellegrin, 33076 Bordeaux, France.

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http://dx.doi.org/10.1016/j.clineuro.2008.08.003DOI Listing
December 2008

Tumor-like enlargement of the optic chiasm in an infant with Alexander disease.

Brain Dev 2009 Mar 26;31(3):244-7. Epub 2008 Jun 26.

AP-HP, Service de Neuropédiatrie, Hôpital Armand Trousseau, F-750012 Paris, France.

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http://dx.doi.org/10.1016/j.braindev.2008.05.005DOI Listing
March 2009

Genes involved in leukodystrophies: a glance at glial functions.

Curr Neurol Neurosci Rep 2008 May;8(3):217-29

GReD, INSERM U931 CNRS 6247, Faculté de Médecine, 28, place Henri Dunant, 63000 Clermont-Ferrand, France.

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http://dx.doi.org/10.1007/s11910-008-0034-xDOI Listing
May 2008

Leucoencephalopathy with vanishing white matter may cause progressive myoclonus epilepsy.

Epilepsia 2008 May 7;49(5):910-3. Epub 2008 Feb 7.

Neurogenetics Unit, Montreal Neurological Hospital and Institute, Montreal, Canada.

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http://dx.doi.org/10.1111/j.1528-1167.2008.01542.xDOI Listing
May 2008

In vivo analysis of the post-natal development of normal mouse brain by DTI.

NMR Biomed 2007 Jun;20(4):413-21

QuaPA-STIM, INRA Theix, 63122 Saint Genès Champanelle, France.

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http://dx.doi.org/10.1002/nbm.1082DOI Listing
June 2007

Peptidomics and proteomics studies of transformed lymphocytes from patients mutated for the eukaryotic initiation factor 2B.

J Chromatogr B Analyt Technol Biomed Life Sci 2006 Aug 7;840(1):20-8. Epub 2006 Jul 7.

Atheris Laboratories, Case postale 314, CH-1233 Bernex-Geneva, Switzerland.

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http://dx.doi.org/10.1016/j.jchromb.2006.06.007DOI Listing
August 2006

N-acetylaspartylglutamate (NAAG) in Pelizaeus-Merzbacher disease.

Adv Exp Med Biol 2006 ;576:353-9; discussion 361-3

Department of Neuroscience, Neurological Clinic, University Hospital, Via Giustiniani 5, I-35128, Padova, Italy.

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http://dx.doi.org/10.1007/0-387-30172-0_26DOI Listing
August 2006

Novel missense mutation in ALS2 gene results in infantile ascending hereditary spastic paralysis.

Ann Neurol 2006 Jun;59(6):976-80

Institut National de la Sante et de la Recherche Médicale U384 and Human Genetics Department, CHU, Clermont-Ferrand, France.

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http://dx.doi.org/10.1002/ana.20879DOI Listing
June 2006

Proton MRS of early post-natal mouse brain modifications in vivo.

NMR Biomed 2006 Apr;19(2):180-7

QuaPA/STIM, INRA Theix, 63122 Saint Genès Champanelle, France.

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http://dx.doi.org/10.1002/nbm.997DOI Listing
April 2006

Propensity for paternal inheritance of de novo mutations in Alexander disease.

Hum Genet 2006 Mar 20;119(1-2):137-44. Epub 2005 Dec 20.

Department of Neurobiology and Civitan International Research Center 529, University of Alabama at Birmingham, 1530 3rd Avenue South, Birmingham, AL 35294-0021, USA.

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http://dx.doi.org/10.1007/s00439-005-0116-7DOI Listing
March 2006

DNA microarray analysis of gene expression in eutopic endometrium from patients with deep endometriosis using laser capture microdissection.

Fertil Steril 2005 Oct;84 Suppl 2:1180-90

Department of Gynecology, Hŏtel-Dieu, Polyclinique, Centre Hospitalier Universitaire, Clermont-Ferrand, France.

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http://dx.doi.org/10.1016/j.fertnstert.2005.04.041DOI Listing
October 2005