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Wyszukujesz frazę ""Urtizberea, Jon A."" wg kryterium: Autor


Wyświetlanie 1-3 z 3
Tytuł :
European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A).
Autorzy :
Barp A; Department of Neurosciences DNS, Neuromuscular Centre, University of Padova, Padua, Italy. .; APHP, G-H Pitié-Salpêtrière, Institut de Myologie, Centre de Référence des Maladies Neuromusculaires Paris Est, Paris, France. .
Laforet P; Neurology Department, Raymond-Poincaré Teaching Hospital, Centre de Référence Des Maladies Neuromusculaires Nord/Est/Ile-de-France, AP-HP, Garches, France.
Bello L; Department of Neurosciences DNS, Neuromuscular Centre, University of Padova, Padua, Italy.
Tasca G; Unità Operativa Complessa Di Neurologia, Dipartimento Di Scienze Dell'Invecchiamento, Neurologiche, Ortopediche E Della Testa-Colo, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.
Vissing J; Copenhagen Neuromuscular Center, Rigshospitalet, University of Copenhagen, Copenhaghen, Denmark.
Monforte M; Unità Operativa Complessa Di Neurologia, Dipartimento Di Scienze Dell'Invecchiamento, Neurologiche, Ortopediche E Della Testa-Colo, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.
Ricci E; Unità Operativa Complessa Di Neurologia, Dipartimento Di Scienze Dell'Invecchiamento, Neurologiche, Ortopediche E Della Testa-Colo, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.
Choumert A; Centre de Référence des Maladies Neuromusculaires PACA-Réunion-Rhônes-Alpes CHU, La Réunion, France.
Stojkovic T; APHP, G-H Pitié-Salpêtrière, Institut de Myologie, Centre de Référence des Maladies Neuromusculaires Paris Est, Paris, France.
Malfatti E; Neurology Department, Raymond-Poincaré Teaching Hospital, Centre de Référence Des Maladies Neuromusculaires Nord/Est/Ile-de-France, AP-HP, Garches, France.
Pegoraro E; Department of Neurosciences DNS, Neuromuscular Centre, University of Padova, Padua, Italy.
Semplicini C; Department of Neurosciences DNS, Neuromuscular Centre, University of Padova, Padua, Italy.
Stramare R; Department of Medicine (DIMED), Institute of Radiology, University of Padova, Padua, Italy.
Scheidegger O; Department of Neurology, Institute for Diagnostic and Interventional Neuroradiology, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.
Haberlova J; Department of Paediatric Neurology, Charles University in Prague, Prague, Czech Republic.
Straub V; John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle Upon Tyne, UK.
Marini-Bettolo C; John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle Upon Tyne, UK.
Løkken N; Copenhagen Neuromuscular Center, Rigshospitalet, University of Copenhagen, Copenhaghen, Denmark.
Diaz-Manera J; Unitat de Malalties Neuromusculars, Servei de Neurologia, Hospital de La Santa Creu I Sant Pau, Barcelona, Spain.
Urtizberea JA; Centre de Compétence Neuromusculaire Filnemus/APHP, Hôpital Marin, Hendaye, France.
Mercuri E; Pediatric Neurology and Nemo Clinical Centre, Università Cattolica Sacro Cuore, Fondazione Policlinico Universitario, A. Gemelli, Rome, Italy.
Kynčl M; Radiology Department, Faculty Hospital Motol, Prague, Czech Republic.
Walter MC; Friedrich-Baur Institut, Ludwig-Maximilians University Munich, Munich, Germany.
Carlier RY; APHP, Department of Radiology, Garches Neuromuscular Center (GNMH), Raymond Poincaré University Hospital (UVSQ, U 1179), Garches, France.
Pokaż więcej
Źródło :
Journal of neurology [J Neurol] 2020 Jan; Vol. 267 (1), pp. 45-56. Date of Electronic Publication: 2019 Sep 25.
Typ publikacji :
Journal Article
MeSH Terms :
Magnetic Resonance Imaging*
Muscle, Skeletal/*diagnostic imaging
Muscular Dystrophies, Limb-Girdle/*diagnostic imaging
Adolescent ; Adult ; Aged ; Child ; Europe ; Female ; Humans ; Male ; Middle Aged ; Muscle, Skeletal/pathology ; Muscle, Skeletal/physiopathology ; Muscular Dystrophies, Limb-Girdle/genetics ; Muscular Dystrophies, Limb-Girdle/pathology ; Muscular Dystrophies, Limb-Girdle/physiopathology ; Young Adult
SCR Disease Name :
Limb-girdle muscular dystrophy type 2A
Czasopismo naukowe
Tytuł :
C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy.
Autorzy :
Carmignac V; Institut National de la Sante et de la Recherche Médicale U582, Institut de Myologie, Groupe Hospitalier Pitié-Salpêtrière, France.
Salih MA
Quijano-Roy S
Marchand S
Al Rayess MM
Mukhtar MM
Urtizberea JA
Labeit S
Guicheney P
Leturcq F
Gautel M
Fardeau M
Campbell KP
Richard I
Estournet B
Ferreiro A
Pokaż więcej
Źródło :
Annals of neurology [Ann Neurol] 2007 Apr; Vol. 61 (4), pp. 340-51.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Family Health*
Gene Deletion*
Cardiomyopathies/*genetics
Muscle Proteins/*genetics
Protein Kinases/*genetics
Adolescent ; Adult ; Age of Onset ; Calpain/metabolism ; Cardiomyopathies/metabolism ; Cardiomyopathies/mortality ; Cardiomyopathies/pathology ; Child ; Chromosomes, Human, Pair 2 ; Connectin ; DNA Mutational Analysis ; Exons ; Genetic Linkage ; Genotype ; Humans ; Male ; Molecular Sequence Data ; Muscle Proteins/chemistry ; Muscle Proteins/metabolism ; Muscles/pathology ; Muscles/ultrastructure ; Phenotype ; Protein Kinases/chemistry ; Protein Structure, Tertiary/genetics
Czasopismo naukowe
Tytuł :
Mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13.
Autorzy :
Viollet L; Unité de Recherches sur les Handicaps Génétiques de l'Enfant, INSERM U 393, Institut Necker-Enfants Malades, Paris, France. />Barois A
Rebeiz JG
Rifai Z
Burlet P
Zarhrate M
Vial E
Dessainte M
Estournet B
Kleinknecht B
Pearn J
Adams RD
Urtizberea JA
Cros DP
Bushby K
Munnich A
Lefebvre S
Pokaż więcej
Źródło :
Annals of neurology [Ann Neurol] 2002 May; Vol. 51 (5), pp. 585-92.
Typ publikacji :
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Chromosome Mapping*/methods
Genes, Recessive*
Chromosomes, Human, Pair 11/*genetics
Muscular Atrophy, Spinal/*genetics
Adult ; Child ; Chronic Disease ; Cyclic AMP Response Element-Binding Protein ; Female ; Genetic Markers ; Humans ; Male ; Microsatellite Repeats/genetics ; Nerve Tissue Proteins/genetics ; Pedigree ; RNA-Binding Proteins ; SMN Complex Proteins
Czasopismo naukowe
    Wyświetlanie 1-3 z 3

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