Informacja

Drogi użytkowniku, aplikacja do prawidłowego działania wymaga obsługi JavaScript. Proszę włącz obsługę JavaScript w Twojej przeglądarce.

Przeglądasz jako GOŚĆ

Wyszukujesz frazę ""Eymard, B."" wg kryterium: Autor


Wyświetlanie 1-18 z 18
Tytuł :
Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene.
Autorzy :
Bonne, G.
Mercuri, E.
Muchir, A.
Urtizberea, A.
Bécane, H. M.
Recan, D.
Merlini, L.
Wehnert, M.
Boor, R.
Reuner, U.
Vorgerd, M.
Wicklein, E. M.
Eymard, B.
Duboc, D.
Penisson-Besnier, I.
Cuisset, J. M.
Ferrer, X.
Desguerre, I.
Lacombe, D.
Bushby, K.
Pokaż więcej
Źródło :
Annals of Neurology; 2000, Vol. 48 Issue 2, p170-180, 11p
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
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
Pokaż więcej
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
    Wyświetlanie 1-18 z 18

    Ta witryna wykorzystuje pliki cookies do przechowywania informacji na Twoim komputerze. Pliki cookies stosujemy w celu świadczenia usług na najwyższym poziomie, w tym w sposób dostosowany do indywidualnych potrzeb. Korzystanie z witryny bez zmiany ustawień dotyczących cookies oznacza, że będą one zamieszczane w Twoim komputerze. W każdym momencie możesz dokonać zmiany ustawień dotyczących cookies