المؤلفون: Delplanque J; 1 Centre National de la Recherche Scientifique, UMR8199, Institut de Biologie, F-59000, Lille, France 2 Institut National de la Santé et de la Recherche Médicale, INSERM U837, and Université de Lille Nord de France, F-59045, Lille, France., Devos D; 3 Département de Neurologie, Centre Hospitalier Régional et Universitaire de Lille, F-59037, Lille, France., Huin V; 2 Institut National de la Santé et de la Recherche Médicale, INSERM U837, and Université de Lille Nord de France, F-59045, Lille, France 4 Pôle de Biochimie et Biologie moléculaire, Centre de Biologie-Pathologie, Centre Hospitalier Régional et Universitaire de Lille, F-59037, Lille, France., Genet A; 4 Pôle de Biochimie et Biologie moléculaire, Centre de Biologie-Pathologie, Centre Hospitalier Régional et Universitaire de Lille, F-59037, Lille, France., Sand O; 1 Centre National de la Recherche Scientifique, UMR8199, Institut de Biologie, F-59000, Lille, France., Moreau C; 3 Département de Neurologie, Centre Hospitalier Régional et Universitaire de Lille, F-59037, Lille, France., Goizet C; 5 Laboratoire des maladies rares : Génétique et métabolisme (MRGM/EA4576), Université Bordeaux Segalen, F-33076, Bordeaux, France., Charles P; 6 Département de Neurologie, Hôpital de la Pitié-Salpétrière, Assistance Publique-Hôpitaux de Paris, F-75651, Paris, France., Anheim M; 7 Institut de Génétique et de Biologie moléculaire et cellulaire (IGBMC), INSERMU964/CNRS-UMR7104/ Strasbourg, F-67404, Illkirch-Graffenstaden, France., Monin ML; 8 Département de Génétique et de Cytogénétique, Hôpital de la Pitié-Salpétrière, Assistance Publique-Hôpitaux de Paris, F-75013, Paris, France., Buée L; 2 Institut National de la Santé et de la Recherche Médicale, INSERM U837, and Université de Lille Nord de France, F-59045, Lille, France., Destée A; 3 Département de Neurologie, Centre Hospitalier Régional et Universitaire de Lille, F-59037, Lille, France., Grolez G; 3 Département de Neurologie, Centre Hospitalier Régional et Universitaire de Lille, F-59037, Lille, France., Delmaire C; 9 Département de Neuroradiologie, Centre Hospitalier Régional et Universitaire de Lille, F-59037, Lille, France., Dujardin K; 3 Département de Neurologie, Centre Hospitalier Régional et Universitaire de Lille, F-59037, Lille, France., Dellacherie D; 10 Département de Neuropédiatrie, Centre Hospitalier Régional et Universitaire de Lille, F-59037, Lille, France., Brice A; 11 Fédération de Génétique, Hôpital de la Pitié-Salpétrière, Assistance Publique-Hôpitaux de Paris, F-75013, Paris, France 12 Institut du cerveau et de la moelle épinière, INSERM U1127/CNRS UMR7225, Université de Paris VI, F-75013, Paris, France., Stevanin G; 11 Fédération de Génétique, Hôpital de la Pitié-Salpétrière, Assistance Publique-Hôpitaux de Paris, F-75013, Paris, France 13 Laboratoire de Neurogénétique, Ecole Pratique des Hautes Etudes, Hésam Université, F-75013 Paris, France., Strubi-Vuillaume I; 4 Pôle de Biochimie et Biologie moléculaire, Centre de Biologie-Pathologie, Centre Hospitalier Régional et Universitaire de Lille, F-59037, Lille, France., Dürr A; 11 Fédération de Génétique, Hôpital de la Pitié-Salpétrière, Assistance Publique-Hôpitaux de Paris, F-75013, Paris, France 12 Institut du cerveau et de la moelle épinière, INSERM U1127/CNRS UMR7225, Université de Paris VI, F-75013, Paris, France., Sablonnière B; 2 Institut National de la Santé et de la Recherche Médicale, INSERM U837, and Université de Lille Nord de France, F-59045, Lille, France 4 Pôle de Biochimie et Biologie moléculaire, Centre de Biologie-Pathologie, Centre Hospitalier Régional et Universitaire de Lille, F-59037, Lille, France bernard.sablonniere@inserm.fr.

المصدر: Brain : a journal of neurology [Brain] 2014 Oct; Vol. 137 (Pt 10), pp. 2657-63. Date of Electronic Publication: 2014 Jul 28.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

مواضيع طبية MeSH: Cognition Disorders/*genetics , Intellectual Disability/*genetics , Membrane Proteins/*genetics , Mutation/*physiology , Spinocerebellar Degenerations/*genetics, Adolescent ; Age of Onset ; Amino Acid Sequence ; Child ; Child, Preschool ; Chromosomes, Human, Pair 1/genetics ; Cognition Disorders/psychology ; Cohort Studies ; Conserved Sequence ; DNA Mutational Analysis ; Exome/genetics ; Female ; France ; Genetic Linkage ; Humans ; Infant ; Intellectual Disability/psychology ; Intelligence Tests ; Introns ; Male ; Membrane Proteins/physiology ; Molecular Sequence Data ; Neuropsychological Tests ; Pedigree ; Polymerase Chain Reaction ; Spinocerebellar Degenerations/pathology ; Spinocerebellar Degenerations/psychology ; Young Adult

SCR Disease Name: Spinocerebellar ataxia 21

المؤلفون: Gras D; AP-HP, Service de Neuropédiatrie, Hôpital Trousseau, Paris, France., Jonard L, Roze E, Chantot-Bastaraud S, Koht J, Motte J, Rodriguez D, Louha M, Caubel I, Kemlin I, Lion-François L, Goizet C, Guillot L, Moutard ML, Epaud R, Héron B, Charles P, Tallot M, Camuzat A, Durr A, Polak M, Devos D, Sanlaville D, Vuillaume I, Billette de Villemeur T, Vidailhet M, Doummar D

المصدر: Journal of neurology, neurosurgery, and psychiatry [J Neurol Neurosurg Psychiatry] 2012 Oct; Vol. 83 (10), pp. 956-62. Date of Electronic Publication: 2012 Jul 24.

نوع المنشور: Case Reports; Journal Article; Multicenter Study

بيانات الدورية: Publisher: BMJ Publishing Group Country of Publication: England NLM ID: 2985191R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-330X (Electronic) Linking ISSN: 00223050 NLM ISO Abbreviation: J Neurol Neurosurg Psychiatry Subsets: MEDLINE

مواضيع طبية MeSH: Chorea*/diagnosis , Chorea*/drug therapy , Chorea*/genetics , Chromosome Disorders*/diagnosis , Chromosome Disorders*/drug therapy , Chromosome Disorders*/genetics , Mutation*, Adrenergic Uptake Inhibitors/*therapeutic use , Nuclear Proteins/*genetics , Tetrabenazine/*therapeutic use , Transcription Factors/*genetics, Adrenergic Uptake Inhibitors/administration & dosage ; Adrenergic Uptake Inhibitors/adverse effects ; Adult ; Age of Onset ; Attention Deficit Disorder with Hyperactivity/genetics ; Child ; Child, Preschool ; Cognition Disorders/genetics ; Congenital Hypothyroidism/genetics ; DNA Mutational Analysis ; Female ; Follow-Up Studies ; France ; Genes, Dominant ; Humans ; Infant ; Male ; Neuropsychological Tests ; Phenotype ; Prognosis ; Protein Array Analysis ; Respiratory Tract Diseases/genetics ; Tetrabenazine/administration & dosage ; Tetrabenazine/adverse effects ; Thyroid Nuclear Factor 1 ; Treatment Outcome

المؤلفون: Méneret A; INSERM, UMRS 975, Hôpital Pitié-Salpêtrière, Paris, France., Grabli D, Depienne C, Gaudebout C, Picard F, Dürr A, Lagroua I, Bouteiller D, Mignot C, Doummar D, Anheim M, Tranchant C, Burbaud P, Jedynak CP, Gras D, Steschenko D, Devos D, Billette de Villemeur T, Vidailhet M, Brice A, Roze E

المصدر: Neurology [Neurology] 2012 Jul 10; Vol. 79 (2), pp. 170-4. Date of Electronic Publication: 2012 Jun 27.

نوع المنشور: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 0401060 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1526-632X (Electronic) Linking ISSN: 00283878 NLM ISO Abbreviation: Neurology Subsets: MEDLINE

مواضيع طبية MeSH: Chorea/*genetics , Dyskinesias/*genetics , Epilepsy, Benign Neonatal/*genetics , Membrane Proteins/*genetics , Mutation/*genetics , Nerve Tissue Proteins/*genetics , Seizures/*genetics, Adult ; Age of Onset ; Chorea/diagnosis ; Dyskinesias/diagnosis ; Epilepsy, Benign Neonatal/diagnosis ; Humans ; Pedigree ; Seizures/diagnosis ; Syndrome ; White People/genetics

SCR Disease Name: Infantile convulsions and paroxysmal choreoathetosis, familial

المؤلفون: Mutez E; Univ Lille Nord de France, F-59000 Lille, France., Larvor L, Leprêtre F, Mouroux V, Hamalek D, Kerckaert JP, Pérez-Tur J, Waucquier N, Vanbesien-Mailliot C, Duflot A, Devos D, Defebvre L, Kreisler A, Frigard B, Destée A, Chartier-Harlin MC

المصدر: Neurobiology of aging [Neurobiol Aging] 2011 Oct; Vol. 32 (10), pp. 1839-48. Date of Electronic Publication: 2010 Jan 22.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 8100437 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1558-1497 (Electronic) Linking ISSN: 01974580 NLM ISO Abbreviation: Neurobiol Aging Subsets: MEDLINE

مواضيع طبية MeSH: Cell Adhesion Molecules, Neuronal/*genetics , Leukocytes, Mononuclear/*metabolism , Mutation/*genetics , Parkinson Disease/*genetics , Parkinson Disease/*pathology , Transcription Factors/*metabolism, Aged ; Aged, 80 and over ; Female ; Gene Expression Profiling/methods ; Humans ; Male ; Middle Aged ; Oligonucleotide Array Sequence Analysis/methods ; Principal Component Analysis ; Signal Transduction/genetics ; Statistics as Topic ; Transcription Factors/genetics ; Young Adult

المؤلفون: Puech B; Service d'Exploration de la Vision et Neuro-Ophtalmologie, Hôpital Roger-Salengro, CHRU de Lille, Lille Cedex, France. bpuech@nordnet.fr, Lacour A, Stevanin G, Sautiere BG, Devos D, Depienne C, Denis E, Mundwiller E, Ferriby D, Vermersch P, Defoort-Dhellemmes S

المصدر: Ophthalmology [Ophthalmology] 2011 Mar; Vol. 118 (3), pp. 564-73. Date of Electronic Publication: 2010 Oct 29.

نوع المنشور: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 7802443 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1549-4713 (Electronic) Linking ISSN: 01616420 NLM ISO Abbreviation: Ophthalmology Subsets: MEDLINE

مواضيع طبية MeSH: Mutation*, Paraplegia/*genetics , Proteins/*genetics , Retinal Diseases/*genetics, Adult ; Consanguinity ; DNA Mutational Analysis ; Diagnostic Techniques, Ophthalmological ; Female ; Follow-Up Studies ; Humans ; Magnetic Resonance Imaging ; Paraplegia/diagnosis ; Pedigree ; Phenotype ; Polymerase Chain Reaction ; Retinal Degeneration/diagnosis ; Retinal Degeneration/genetics ; Retinal Diseases/diagnosis ; Retrospective Studies ; Spastic Paraplegia, Hereditary/diagnosis ; Spastic Paraplegia, Hereditary/genetics ; Visual Acuity ; Young Adult

SCR Disease Name: Spastic paraplegia 15, autosomal recessive

المؤلفون: Devos D, Tchofo PJ, Vuillaume I, Destée A, Batey S, Burn J, Chinnery PF

المصدر: Brain : a journal of neurology [Brain] 2009 Jun; Vol. 132 (Pt 6), pp. e109. Date of Electronic Publication: 2008 Oct 14.

نوع المنشور: Comment; Letter

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

مواضيع طبية MeSH: Mutation*, Apoferritins/*genetics , Dystonic Disorders/*genetics, Adult ; Disease Progression ; Female ; Ferritins/metabolism ; Humans ; Male ; Phenotype ; Young Adult

المؤلفون: Glik A; Department of Neurology and the Sagol Neuroscience Center, Sheba Medical Center, Tel Hashomer, Israel., Vuillaume I, Devos D, Inzelberg R

المصدر: Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2008 Sep 15; Vol. 23 (12), pp. 1744-7.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8610688 Publication Model: Print Cited Medium: Internet ISSN: 1531-8257 (Electronic) Linking ISSN: 08853185 NLM ISO Abbreviation: Mov Disord Subsets: MEDLINE

مواضيع طبية MeSH: Chorea/*complications , Chorea/*genetics , Mental Disorders/*etiology , Mutation/*genetics , Nuclear Proteins/*genetics , Transcription Factors/*genetics, Adult ; Codon, Terminator/genetics ; DNA Mutational Analysis ; Exons/genetics ; Family Health ; Humans ; Lung Diseases/etiology ; Lung Diseases/genetics ; Male ; Mental Disorders/genetics ; Thyroid Nuclear Factor 1

المؤلفون: De Backer J, Nollen GJ, Devos D, Pals G, Coucke P, Verstraete K, van der Wall EE, De Paepe A, Mulder BJ

المصدر: Heart (British Cardiac Society) [Heart] 2006 Jul; Vol. 92 (7), pp. 977-8.

نوع المنشور: Letter; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: BMJ Pub. Group Country of Publication: England NLM ID: 9602087 Publication Model: Print Cited Medium: Internet ISSN: 1468-201X (Electronic) Linking ISSN: 13556037 NLM ISO Abbreviation: Heart Subsets: MEDLINE

مواضيع طبية MeSH: Aortic Diseases/*physiopathology , Marfan Syndrome/*genetics , Microfilament Proteins/*genetics , Mutation/*genetics , Polymorphism, Genetic/*genetics, Adult ; Aortic Diseases/genetics ; Female ; Fibrillin-1 ; Fibrillins ; Genotype ; Humans ; Male ; Marfan Syndrome/physiopathology ; Vascular Resistance/genetics

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