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Wyświetlanie 1-18 z 18
Tytuł :
X-linked vacuolated myopathy: complement membrane attack complex on surface membrane of injured muscle fibers.
Autorzy :
Villanova M; INSERM U. 153, Paris, France.
Louboutin JP
Chateau D
Eymard B
Sagniez M
Tomé FM
Fardeau M
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Źródło :
Annals of neurology [Ann Neurol] 1995 May; Vol. 37 (5), pp. 637-45.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Genetic Linkage*
X Chromosome*
Complement Membrane Attack Complex/*metabolism
Muscle Fibers, Skeletal/*ultrastructure
Muscular Diseases/*pathology
Vacuoles/*ultrastructure
Adult ; Cell Membrane/immunology ; Cell Membrane/ultrastructure ; Female ; Fluorescent Antibody Technique ; Humans ; Male ; Microscopy, Immunoelectron ; Middle Aged ; Muscle Fibers, Skeletal/immunology ; Muscular Diseases/genetics ; Muscular Diseases/immunology ; Pedigree
Czasopismo naukowe
Tytuł :
Prevention of autoimmune attack by targeting specific T-cell receptors in a severe combined immunodeficiency mouse model of myasthenia gravis.
Autorzy :
Aissaoui A; CNRS ESA 8078, Hôpital Marie Lannelongue, Le Plessis Robinson, France.
Klingel-Schmitt I
Couderc J
Chateau D
Romagne F
Jambou F
Vincent A
Levasseur P
Eymard B
Maillot MC
Galanaud P
Berrih-Aknin S
Cohen-Kaminsky S
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Źródło :
Annals of neurology [Ann Neurol] 1999 Oct; Vol. 46 (4), pp. 559-67.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Autoimmunity/*immunology
Motor Endplate/*immunology
Receptors, Antigen, T-Cell/*immunology
Adolescent ; Adult ; Animals ; Disease Models, Animal ; Humans ; Mice ; Mice, SCID ; Receptors, Cholinergic/immunology
Czasopismo naukowe
Tytuł :
Electromyography guides toward subgroups of mutations in muscle channelopathies.
Autorzy :
Fournier E; Department of Physiology, Groupe Hospitalier Pitié-Salpêtrière and Université Pierre et Marie Curie, Paris, France. />Arzel M
Sternberg D
Vicart S
Laforet P
Eymard B
Willer JC
Tabti N
Fontaine B
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Źródło :
Annals of neurology [Ann Neurol] 2004 Nov; Vol. 56 (5), pp. 650-61.
Typ publikacji :
Clinical Trial; Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Mutation*
Electromyography/*methods
Ion Channels/*genetics
Muscular Diseases/*genetics
Action Potentials/physiology ; Adolescent ; Adult ; Aged ; Calcium Channels/genetics ; Calcium Channels/physiology ; Child ; Electric Stimulation/methods ; Exercise/physiology ; Exercise Test/methods ; Female ; Humans ; Ion Channels/classification ; Male ; Middle Aged ; Muscular Diseases/classification ; Muscular Diseases/rehabilitation ; Potassium Channels/genetics ; Potassium Channels/physiology ; Sodium Channels/genetics ; Sodium Channels/physiology ; Treatment Outcome
Czasopismo naukowe
Tytuł :
Association of the PTPN22*R620W polymorphism with autoimmune myasthenia gravis.
Autorzy :
Vandiedonck C; Institut National de la Santé et de la Recherche Médicale, Université Paris-Descartes, France.
Capdevielle C
Giraud M
Krumeich S
Jais JP
Eymard B
Tranchant C
Gajdos P
Garchon HJ
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Źródło :
Annals of neurology [Ann Neurol] 2006 Feb; Vol. 59 (2), pp. 404-7.
Typ publikacji :
Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Genetic Predisposition to Disease*
Polymorphism, Genetic*
Arginine/*genetics
Myasthenia Gravis/*genetics
Protein Tyrosine Phosphatases/*genetics
Tryptophan/*genetics
Adult ; Aged ; Alleles ; Confidence Intervals ; Connectin ; DNA Mutational Analysis/methods ; Female ; Gene Frequency ; Humans ; Male ; Middle Aged ; Muscle Proteins/metabolism ; Myasthenia Gravis/classification ; Odds Ratio ; Protein Kinases/metabolism ; Protein Tyrosine Phosphatase, Non-Receptor Type 22
Czasopismo naukowe
Tytuł :
Cold extends electromyography distinction between ion channel mutations causing myotonia.
Autorzy :
Fournier E; Fédération de Neurophysiologie Clinique, Groupe Hospitalier Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Université Pierre et Marie Curie, Paris. />Viala K
Gervais H
Sternberg D
Arzel-Hézode M
Laforêt P
Eymard B
Tabti N
Willer JC
Vial C
Fontaine B
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Źródło :
Annals of neurology [Ann Neurol] 2006 Sep; Vol. 60 (3), pp. 356-65.
Typ publikacji :
Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Cold Temperature*
Mutation*
Electromyography/*methods
Ion Channels/*genetics
Myotonia/*genetics
Action Potentials/physiology ; Adolescent ; Adult ; Aged ; Calcium Channels/genetics ; Calcium Channels/physiology ; Exercise Test/methods ; Female ; Humans ; Ion Channels/classification ; Male ; Middle Aged ; Muscle, Skeletal/physiology ; Myotonia/diagnosis ; Myotonia/physiopathology ; Potassium Channels/genetics ; Potassium Channels/physiology ; Sodium Channels/genetics ; Sodium Channels/physiology ; Thermosensing/physiology ; Time Factors
Czasopismo naukowe
Tytuł :
Atypical phenotypes in titinopathies explained by second titin mutations.
Autorzy :
Evilä A; Folkhälsan Institute of Genetics and Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland.
Vihola A
Sarparanta J
Raheem O
Palmio J
Sandell S
Eymard B
Illa I
Rojas-Garcia R
Hankiewicz K
Negrão L
Löppönen T
Nokelainen P
Kärppä M
Penttilä S
Screen M
Suominen T
Richard I
Hackman P
Udd B
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Źródło :
Annals of neurology [Ann Neurol] 2014 Feb; Vol. 75 (2), pp. 230-40. Date of Electronic Publication: 2014 Feb 24.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Connectin/*genetics
Distal Myopathies/*genetics
Distal Myopathies/*pathology
Mutation/*genetics
Adolescent ; Adult ; Aged ; Base Sequence ; European Continental Ancestry Group ; Exons/genetics ; Exons/immunology ; Family Health ; Female ; Humans ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Muscle, Skeletal/pathology ; Phenotype ; RNA, Messenger/genetics ; RNA, Messenger/metabolism
Czasopismo naukowe
Tytuł :
Recessive MYPN mutations cause cap myopathy with occasional nemaline rods.
Autorzy :
Lornage X; Institute of Genetics and Molecular and Cellular Biology, Illkirch, France.; National Institute of Health and Medical Research, Illkirch, France.; National Center for Scientific Research, Illkirch, France.; Strasbourg Federation of Translational Medicine, University of Strasbourg, Illkirch, France.
Malfatti E; Sorbonne Universities, Pierre and Marie Curie University, National Institute of Health and Medical Research, National Center for Scientific Research, Center for Research in Myology, Pitié-Salpêtrière Hospital, Paris, France.; Unit of Neuromuscular Morphology, Institute of Myology, Pitié-Salpêtrière Hospital, Paris, France.; Reference Center for Neuromuscular Pathology Paris-East, Institute of Myology, Pitié-Salpêtrière Hospital, Public Hospital Network of Paris, Paris, France.
Chéraud C; Institute of Genetics and Molecular and Cellular Biology, Illkirch, France.; National Institute of Health and Medical Research, Illkirch, France.; National Center for Scientific Research, Illkirch, France.; Strasbourg Federation of Translational Medicine, University of Strasbourg, Illkirch, France.
Schneider R; Institute of Genetics and Molecular and Cellular Biology, Illkirch, France.; National Institute of Health and Medical Research, Illkirch, France.; National Center for Scientific Research, Illkirch, France.; Strasbourg Federation of Translational Medicine, University of Strasbourg, Illkirch, France.; Department of Computer Science, ICube, National Center for Scientific Research, Strasbourg, France.
Biancalana V; Institute of Genetics and Molecular and Cellular Biology, Illkirch, France.; National Institute of Health and Medical Research, Illkirch, France.; National Center for Scientific Research, Illkirch, France.; Strasbourg Federation of Translational Medicine, University of Strasbourg, Illkirch, France.; Diagnostic Genetic Laboratory, New Civil Hospital, Regional University Hospital Center, Strasbourg, France.
Cuisset JM; Department of Neuropediatrics, Reference Center for Neuromuscular Diseases, Roger-Salengro Hospital, Regional University Hospital Center, Lille, France.
Garibaldi M; Unit of Neuromuscular Morphology, Institute of Myology, Pitié-Salpêtrière Hospital, Paris, France.; Unit of Neuromuscular Diseases, Department of Neurology, Mental Health, and Sensory Organs, Faculty of Medicine and Psychology, Sapienza University of Rome, Rome, Italy.; Neuromuscular Diseases Centre, Department of Clinical Neurosciences, University Hospital of Nice, Nice, France.
Eymard B; Sorbonne Universities, Pierre and Marie Curie University, National Institute of Health and Medical Research, National Center for Scientific Research, Center for Research in Myology, Pitié-Salpêtrière Hospital, Paris, France.; Reference Center for Neuromuscular Pathology Paris-East, Institute of Myology, Pitié-Salpêtrière Hospital, Public Hospital Network of Paris, Paris, France.
Fardeau M; Sorbonne Universities, Pierre and Marie Curie University, National Institute of Health and Medical Research, National Center for Scientific Research, Center for Research in Myology, Pitié-Salpêtrière Hospital, Paris, France.; Unit of Neuromuscular Morphology, Institute of Myology, Pitié-Salpêtrière Hospital, Paris, France.; Reference Center for Neuromuscular Pathology Paris-East, Institute of Myology, Pitié-Salpêtrière Hospital, Public Hospital Network of Paris, Paris, France.
Boland A; National Genotyping Center, Genomics Institute, Office of Atomic Energy and Alternative Energies, Evry, France.
Deleuze JF; National Genotyping Center, Genomics Institute, Office of Atomic Energy and Alternative Energies, Evry, France.
Thompson J; Department of Computer Science, ICube, National Center for Scientific Research, Strasbourg, France.
Carlier RY; Department of Radiology, Neurolocomotor Division, Raymond Poincaré Hospital, University Hospitals Paris-Ile-de-France West, Public Hospital Network of Paris, Garches, France.; Versailles Saint-Quentin-en-Yvelines University, Versailles, France.
Böhm J; Institute of Genetics and Molecular and Cellular Biology, Illkirch, France.; National Institute of Health and Medical Research, Illkirch, France.; National Center for Scientific Research, Illkirch, France.; Strasbourg Federation of Translational Medicine, University of Strasbourg, Illkirch, France.
Romero NB; Sorbonne Universities, Pierre and Marie Curie University, National Institute of Health and Medical Research, National Center for Scientific Research, Center for Research in Myology, Pitié-Salpêtrière Hospital, Paris, France.; Unit of Neuromuscular Morphology, Institute of Myology, Pitié-Salpêtrière Hospital, Paris, France.; Reference Center for Neuromuscular Pathology Paris-East, Institute of Myology, Pitié-Salpêtrière Hospital, Public Hospital Network of Paris, Paris, France.
Laporte J; Institute of Genetics and Molecular and Cellular Biology, Illkirch, France.; National Institute of Health and Medical Research, Illkirch, France.; National Center for Scientific Research, Illkirch, France.; Strasbourg Federation of Translational Medicine, University of Strasbourg, Illkirch, France.
Pokaż więcej
Źródło :
Annals of neurology [Ann Neurol] 2017 Mar; Vol. 81 (3), pp. 467-473. Date of Electronic Publication: 2017 Mar 20.
Typ publikacji :
Journal Article
MeSH Terms :
Muscle Proteins/*genetics
Myopathies, Structural, Congenital/*genetics
Adult ; Consanguinity ; Exome ; Female ; Humans ; Male ; Mutation ; Myopathies, Structural, Congenital/pathology ; Myopathies, Structural, Congenital/physiopathology ; Pedigree
SCR Disease Name :
Cap Myopathy
Czasopismo naukowe
    Wyświetlanie 1-18 z 18

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