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    Wyświetlanie 1-11 z 11
    Tytuł:
    Collaborative model for diagnosis and treatment of very rare diseases: experience in Spain with thymidine kinase 2 deficiency.
    Autorzy:
    Domínguez-González C; Neuromuscular Disorders Unit, Neurology Department, Hospital 12 de Octubre, Madrid, Spain.; Instituto de Investigación imas12, Hospital 12 de Octubre, Madrid, Spain.; Center for Biomedical Network Research On Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.
    Madruga-Garrido M; Pediatric Neurology Department, Hospital U. Virgen del Rocío, Seville, Spain.
    Hirano M; Neurology Department, H. Houston Merritt Center, Columbia University Irving Medical Center, New York, NY, USA.
    Martí I; Pediatric Department, Donostia University Hospital, Biodonostia Health Research Institute, University of the Basque Country, San Sebastián, Spain.
    Martín MA; Center for Biomedical Network Research On Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Mitochondrial Diseases Laboratory, Department of Biochemistry, Research Institute Hospital 12 de Octubre (imas12), Madrid, Spain.
    Munell F; Pediatric Department, Vall d'Hebron Hospital, Barcelona, Spain.
    Nascimento A; Center for Biomedical Network Research On Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Pediatric Department, Vall d'Hebron Hospital, Barcelona, Spain.; Neuromuscular Unit, Neurology Department, Sant Joan de Déu Research Institute, Sant Joan de Déu Hospital, Barcelona, Spain.
    Olivé M; Neuromuscular Disorders Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau/Center for Biomedical Network Research On Rare Diseases (CIBERER), Barcelona, Spain.
    Quan J; Zogenix, Inc., Emeryville, CA, USA.
    Sardina MD; Pediatric Neurology Department, Badajoz Hospital Complex, Badajoz, Spain.
    Martí R; Center for Biomedical Network Research On Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Research Group On Neuromuscular and Mitochondrial Diseases, Vall d'Hebron Research Institute, Autonomous University of Barcelona, Barcelona, Spain.
    Paradas C; Neurology Department, Neuromuscular Disorders Unit, Instituto de Biomedicina de Sevilla, Hospital U. Virgen del Rocío, CSIC, Universidad de Sevilla, Avd. Manuel Siurot s/n, 41013, Sevilla, Spain. .; Center for Biomedical Network Research On Neurodegenerative Disorders (CIBERNED), Instituto de Salud Carlos III, Madrid, Spain. .
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    Źródło:
    Orphanet journal of rare diseases [Orphanet J Rare Dis] 2021 Oct 02; Vol. 16 (1), pp. 407. Date of Electronic Publication: 2021 Oct 02.
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't; Review
    MeSH Terms:
    Disease Models, Animal*
    Rare Diseases*/diagnosis
    Thymidine Kinase/*deficiency
    Animals ; Humans ; Mice ; Retrospective Studies ; Spain
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Selection process and causes of non-eligibility for CD19 CAR-T cell therapy in patients with relapsed/refractory aggressive B-cell non-Hodgkin lymphoma in a European center.
    Autorzy:
    Carpio C; Department of Hematology, Vall d'Hebron Institute of Oncology (VHIO), Vall d'Hebron University Hospital (HUVH), Universitat Autònoma de Barcelona, Barcelona, Spain.; Department of Medicine, Universitat Autònoma de Barcelona, Barcelona, Spain.
    Iacoboni G; Department of Hematology, Vall d'Hebron Institute of Oncology (VHIO), Vall d'Hebron University Hospital (HUVH), Universitat Autònoma de Barcelona, Barcelona, Spain.; Department of Medicine, Universitat Autònoma de Barcelona, Barcelona, Spain.
    Villacampa G; Oncology Data Science (OdysSey) Group, Vall d'Hebron Institute of Oncology (VHIO), Barcelona, Spain.
    Catalá E; Department of Hematology, Vall d'Hebron Institute of Oncology (VHIO), Vall d'Hebron University Hospital (HUVH), Universitat Autònoma de Barcelona, Barcelona, Spain.; Department of Medicine, Universitat Autònoma de Barcelona, Barcelona, Spain.
    Bobillo S; Department of Hematology, Vall d'Hebron Institute of Oncology (VHIO), Vall d'Hebron University Hospital (HUVH), Universitat Autònoma de Barcelona, Barcelona, Spain.; Department of Medicine, Universitat Autònoma de Barcelona, Barcelona, Spain.
    Pérez A; Department of Hematology, Vall d'Hebron Institute of Oncology (VHIO), Vall d'Hebron University Hospital (HUVH), Universitat Autònoma de Barcelona, Barcelona, Spain.; Department of Medicine, Universitat Autònoma de Barcelona, Barcelona, Spain.
    Jiménez M; Department of Hematology, Vall d'Hebron Institute of Oncology (VHIO), Vall d'Hebron University Hospital (HUVH), Universitat Autònoma de Barcelona, Barcelona, Spain.; Department of Medicine, Universitat Autònoma de Barcelona, Barcelona, Spain.
    Segura L; Department of Hematology, Vall d'Hebron Institute of Oncology (VHIO), Vall d'Hebron University Hospital (HUVH), Universitat Autònoma de Barcelona, Barcelona, Spain.; Department of Medicine, Universitat Autònoma de Barcelona, Barcelona, Spain.
    Olivé M; Department of Hematology, Vall d'Hebron Institute of Oncology (VHIO), Vall d'Hebron University Hospital (HUVH), Universitat Autònoma de Barcelona, Barcelona, Spain.; Department of Medicine, Universitat Autònoma de Barcelona, Barcelona, Spain.
    Farriols A; Department of Hematology, Vall d'Hebron Institute of Oncology (VHIO), Vall d'Hebron University Hospital (HUVH), Universitat Autònoma de Barcelona, Barcelona, Spain.; Department of Medicine, Universitat Autònoma de Barcelona, Barcelona, Spain.
    Abrisqueta P; Department of Hematology, Vall d'Hebron Institute of Oncology (VHIO), Vall d'Hebron University Hospital (HUVH), Universitat Autònoma de Barcelona, Barcelona, Spain.; Department of Medicine, Universitat Autònoma de Barcelona, Barcelona, Spain.
    Valcárcel D; Department of Hematology, Vall d'Hebron Institute of Oncology (VHIO), Vall d'Hebron University Hospital (HUVH), Universitat Autònoma de Barcelona, Barcelona, Spain.; Department of Medicine, Universitat Autònoma de Barcelona, Barcelona, Spain.
    Carreras MJ; Department of Hematology, Vall d'Hebron Institute of Oncology (VHIO), Vall d'Hebron University Hospital (HUVH), Universitat Autònoma de Barcelona, Barcelona, Spain.; Department of Medicine, Universitat Autònoma de Barcelona, Barcelona, Spain.
    Bosch F; Department of Hematology, Vall d'Hebron Institute of Oncology (VHIO), Vall d'Hebron University Hospital (HUVH), Universitat Autònoma de Barcelona, Barcelona, Spain.; Department of Medicine, Universitat Autònoma de Barcelona, Barcelona, Spain.
    Barba P; Department of Hematology, Vall d'Hebron Institute of Oncology (VHIO), Vall d'Hebron University Hospital (HUVH), Universitat Autònoma de Barcelona, Barcelona, Spain.; Department of Medicine, Universitat Autònoma de Barcelona, Barcelona, Spain.
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    Źródło:
    Leukemia & lymphoma [Leuk Lymphoma] 2021 Sep; Vol. 62 (9), pp. 2288-2291. Date of Electronic Publication: 2021 Apr 24.
    Typ publikacji:
    Letter
    MeSH Terms:
    Lymphoma, B-Cell*/therapy
    Receptors, Chimeric Antigen*/genetics
    Antigens, CD19 ; B-Lymphocytes ; Cell- and Tissue-Based Therapy ; Humans ; Immunotherapy, Adoptive ; Receptors, Antigen, T-Cell
    Opinia redakcyjna
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Blockade of KAT II Facilitates LTP in Kynurenine 3-Monooxygenase Depleted Mice.
    Autorzy:
    Imbeault S; Department of Physiology and Pharmacology, Karolinska Institutet, Stockholm, Sweden.
    Gubert Olivé M; Department of Physiology and Pharmacology, Karolinska Institutet, Stockholm, Sweden.
    Jungholm O; Department of Physiology and Pharmacology, Karolinska Institutet, Stockholm, Sweden.
    Erhardt S; Department of Physiology and Pharmacology, Karolinska Institutet, Stockholm, Sweden.
    Wigström H; Department of Physiology and Pharmacology, Karolinska Institutet, Stockholm, Sweden.; Department of Medical Biophysics, Institute of Neuroscience and Physiology, University of Gothenburg, Sweden.
    Engberg G; Department of Physiology and Pharmacology, Karolinska Institutet, Stockholm, Sweden.
    Jardemark K; Department of Physiology and Pharmacology, Karolinska Institutet, Stockholm, Sweden.
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    Źródło:
    International journal of tryptophan research : IJTR [Int J Tryptophan Res] 2021 Aug 30; Vol. 14, pp. 11786469211041368. Date of Electronic Publication: 2021 Aug 30 (Print Publication: 2021).
    Typ publikacji:
    Journal Article
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Heterozygous CAPN3 missense variants causing autosomal-dominant calpainopathy in seven unrelated families.
    Autorzy:
    González-Mera L; Neuropathology Unit, Department of Pathology, IDIBELL-Hospital Universitari de Bellvitge, Hospitalet de Llobregat, Barcelona, Spain.; Neuromuscular Unit, Department of Neurology, IDIBELL-Hospital Universitari de Bellvitge, Hospitalet de Llobregat, Barcelona, Spain.
    Ravenscroft G; Centre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical Research, Perth, WA, Australia.
    Cabrera-Serrano M; Centre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical Research, Perth, WA, Australia.; Neurology Department, Hospital Universitario Virgen del Rocío, Seville, Spain.; Instituto de Biomedicina de Sevilla (IBiS), Hospital Universitario Virgen del Rocıo/CSIC, Universidad de Sevilla, Sevilla, Spain.; Centro de Investigación Biomédica en Red Sobre Enfermedades Neurodegenerativas (CIBERNED), Madrid, Spain.
    Ermolova N; Department of Physiology, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.
    Domínguez-González C; Neuromuscular Unit, Department of Neurology, Hospital Universitario 12 de Octubre, Research Institute imas12, Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.
    Arteche-López A; Department of Genetic, Hospital Universitario 12 de Octubre, Madrid, Spain.
    Soltanzadeh P; Departments of Neurology and Physiology, David Geffen School of Medicine, UCLA, University of California, Los Angeles, CA, USA.
    Evesson F; Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead, Westmead, NSW, Australia.; The Children's Medical Research Institute, Westmead, NSW, Australia.
    Navas C; Neuropathology Unit, Department of Pathology, IDIBELL-Hospital Universitari de Bellvitge, Hospitalet de Llobregat, Barcelona, Spain.
    Mavillard F; Instituto de Biomedicina de Sevilla (IBiS), Hospital Universitario Virgen del Rocıo/CSIC, Universidad de Sevilla, Sevilla, Spain.; Centro de Investigación Biomédica en Red Sobre Enfermedades Neurodegenerativas (CIBERNED), Madrid, Spain.
    Clayton J; Centre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical Research, Perth, WA, Australia.
    Rodrigo P; Neuropathology Unit, Department of Pathology, IDIBELL-Hospital Universitari de Bellvitge, Hospitalet de Llobregat, Barcelona, Spain.; Neuromuscular Unit, Department of Neurology, IDIBELL-Hospital Universitari de Bellvitge, Hospitalet de Llobregat, Barcelona, Spain.
    Servián-Morilla E; Neurology Department, Hospital Universitario Virgen del Rocío, Seville, Spain.; Instituto de Biomedicina de Sevilla (IBiS), Hospital Universitario Virgen del Rocıo/CSIC, Universidad de Sevilla, Sevilla, Spain.; Centro de Investigación Biomédica en Red Sobre Enfermedades Neurodegenerativas (CIBERNED), Madrid, Spain.
    Cooper ST; Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead, Westmead, NSW, Australia.; The Children's Medical Research Institute, Westmead, NSW, Australia.; Discipline of Child and Adolescent Health, Faculty of Health and Medicine, University of Sydney, Westmead, NSW, Australia.
    Waddell L; Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead, Westmead, NSW, Australia.; Discipline of Child and Adolescent Health, Faculty of Health and Medicine, University of Sydney, Westmead, NSW, Australia.
    Reardon K; St. Vincent's Melbourne Neuromuscular Diagnostic Laboratory, Department of Clinical Neurosciences and Neurological Research, St Vincent's Hospital, Melbourne, VIC, Australia.
    Corbett A; Department of Neurology, Concord General Repatriation Hospital, Sydney, NSW, Australia.
    Hernandez-Laín A; Department of Pathology, Neuropathology Unit. Hospital Universitario 12 de Octubre, Madrid, Spain.
    Sanchez A; Institut de Diagnòstic per la imatge (IDI), IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona, Spain.
    Esteban Perez J; Neuromuscular Unit, Department of Neurology, Hospital Universitario 12 de Octubre, Research Institute imas12, Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.
    Paradas-Lopez C; Neurology Department, Hospital Universitario Virgen del Rocío, Seville, Spain.; Instituto de Biomedicina de Sevilla (IBiS), Hospital Universitario Virgen del Rocıo/CSIC, Universidad de Sevilla, Sevilla, Spain.; Centro de Investigación Biomédica en Red Sobre Enfermedades Neurodegenerativas (CIBERNED), Madrid, Spain.
    Rivas-Infante E; Centro de Investigación Biomédica en Red Sobre Enfermedades Neurodegenerativas (CIBERNED), Madrid, Spain.; Department of Neuropathology, Hospital U. Virgen del Rocío/Instituto de Biomedicina de Sevilla (IBiS), Sevilla, Spain.
    Spencer M; Department of Neurology, Neuromuscular Program, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.
    Laing N; Centre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical Research, Perth, WA, Australia.
    Olivé M; Neuropathology Unit, Department of Pathology, IDIBELL-Hospital Universitari de Bellvitge, Hospitalet de Llobregat, Barcelona, Spain.; Neuromuscular Unit, Department of Neurology, IDIBELL-Hospital Universitari de Bellvitge, Hospitalet de Llobregat, Barcelona, Spain.
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    Źródło:
    Neuropathology and applied neurobiology [Neuropathol Appl Neurobiol] 2021 Feb; Vol. 47 (2), pp. 283-296. Date of Electronic Publication: 2020 Sep 28.
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Calpain/*genetics
    Genetic Predisposition to Disease/*genetics
    Muscle Proteins/*genetics
    Muscular Dystrophies, Limb-Girdle/*genetics
    Adolescent ; Adult ; Female ; High-Throughput Nucleotide Sequencing ; Humans ; Male ; Middle Aged ; Mutation, Missense ; Pedigree ; Sequence Analysis, DNA ; Young Adult
    SCR Disease Name:
    Limb-girdle muscular dystrophy type 2A
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Late-onset thymidine kinase 2 deficiency: a review of 18 cases.
    Autorzy:
    Domínguez-González C; Neurology department, Neuromuscular disorders Unit, 12 de Octubre Hospital, Madrid, Spain.; Research Institute i+12, 12 de Octubre Hospital, Madrid, Spain.; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.
    Hernández-Laín A; Neuropathology, Pathology Department, Neuromuscular disorders Unit, 12 de Octubre Hospital, Madrid, Spain.
    Rivas E; Pathological Anatomic Department, Neuromuscular Disorders Unit, Instituto de Biomedicina de Sevilla, Hospital U. Virgen del Rocío, CSIC, Universidad de Sevilla, Sevilla, Spain.
    Hernández-Voth A; Neumology department, Neuromuscular disorders Unit, 12 de Octubre Hospital, Madrid, Spain.
    Sayas Catalán J; Neumology department, Neuromuscular disorders Unit, 12 de Octubre Hospital, Madrid, Spain.
    Fernández-Torrón R; Neurology Department, Neuromuscular disorders Unit, Hospital de Donostia, San Sebastian, Spain.
    Fuiza-Luces C; Research Institute i+12, 12 de Octubre Hospital, Madrid, Spain.; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Mitochondrial and Neuromuscular Diseases Laboratory, Research Institute of Hospital '12 de Octubre' ('i+12'), Madrid, Spain.
    García García J; Neurology Department, Hospital de Albacete, Albacete, Spain.
    Morís G; Neurology Department, Neuromuscular disorders Unit, Hospital Central de Asturias, Oviedo, Spain.
    Olivé M; Pathological Anatomy Department, Neuromuscular disorders unit, IDIBELL-Hospital de Bellvitge, Barcelona, Spain.
    Miralles F; Neurology department, Neuromuscular disorders unit, Hospital Universitari Son Espases, Palma, Spain.
    Díaz-Manera J; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Neurology department, Neuromuscular disorders unit, Hospital de la Santa Creu I Sant Pau, Barcelona, Spain.
    Caballero C; Respiratory Department, Instituto de Biomedicina de Sevilla, Hospital U. Virgen del Rocío, CSIC, CIBERES, Universidad de Sevilla, Sevilla, Spain.
    Méndez-Ferrer B; Rehabilitation Department, Hospital Virgen del Rocio, Sevilla, Spain.
    Martí R; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Neuromuscular Unit, Neurology Department, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu, Barcelona, Spain.
    García Arumi E; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Research group on Neuromuscular and Mitochondrial Diseases, Valld'Hebron Research Institute, Universitat Autònoma de Barcelona, Barcelona, Spain.
    Badosa MC; Neuromuscular Unit, Neurology Department, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu, Barcelona, Spain.
    Esteban J; Neurology department, Neuromuscular disorders Unit, 12 de Octubre Hospital, Madrid, Spain.; Research Institute i+12, 12 de Octubre Hospital, Madrid, Spain.; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.
    Jimenez-Mallebrera C; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Neuromuscular Unit, Neurology Department, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu, Barcelona, Spain.
    Encinar AB; Research Institute i+12, 12 de Octubre Hospital, Madrid, Spain.; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Mitochondrial and Neuromuscular Diseases Laboratory, Research Institute of Hospital '12 de Octubre' ('i+12'), Madrid, Spain.
    Arenas J; Research Institute i+12, 12 de Octubre Hospital, Madrid, Spain.; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Mitochondrial and Neuromuscular Diseases Laboratory, Research Institute of Hospital '12 de Octubre' ('i+12'), Madrid, Spain.
    Hirano M; Department of Neurology, H. Houston Merritt Center, Columbia University Medical Center, New York, New York, USA.
    Martin MÁ; Research Institute i+12, 12 de Octubre Hospital, Madrid, Spain.; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Mitochondrial and Neuromuscular Diseases Laboratory, Research Institute of Hospital '12 de Octubre' ('i+12'), Madrid, Spain.
    Paradas C; Neurology Department, Neuromuscular Disorders Unit, Instituto de Biomedicina de Sevilla, Hospital U. Virgen del Rocío, CSIC, Universidad de Sevilla, Avd. Manuel Siurot s/n, 41013, Sevilla, Spain. .; Biomedical Network Research Centre on Neurodegenerative Diseases (CIBERNED), Madrid, Spain. .
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    Źródło:
    Orphanet journal of rare diseases [Orphanet J Rare Dis] 2019 May 06; Vol. 14 (1), pp. 100. Date of Electronic Publication: 2019 May 06.
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Mitochondrial Myopathies/*enzymology
    Thymidine Kinase/*deficiency
    Adolescent ; Adult ; Child ; DNA, Mitochondrial/genetics ; Female ; Humans ; Late Onset Disorders/enzymology ; Late Onset Disorders/metabolism ; Late Onset Disorders/pathology ; Male ; Middle Aged ; Mitochondrial Myopathies/genetics ; Muscle, Skeletal/enzymology ; Muscle, Skeletal/metabolism ; Muscle, Skeletal/pathology ; Muscular Diseases/enzymology ; Muscular Diseases/genetics ; Mutation/genetics ; Retrospective Studies ; Thymidine Kinase/genetics ; Young Adult
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    New insights into the protein aggregation pathology in myotilinopathy by combined proteomic and immunolocalization analyses.
    Autorzy:
    Maerkens A; Department of Neurology, Heimer Institute for Muscle Research, University Hospital Bergmannsheil, Ruhr-University Bochum, Buerkle-de-la-Camp-Platz 1, D-44789, Bochum, Germany.; Medizinisches Proteom-Center, Ruhr-University Bochum, D-44801, Bochum, Germany.
    Olivé M; Department of Pathology and Neuromuscular Unit, Institute of Neuropathology, IDIBELL-Hospital Universitari de Bellvitge and Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Barcelona, Spain.
    Schreiner A; Department of Neurology, Heimer Institute for Muscle Research, University Hospital Bergmannsheil, Ruhr-University Bochum, Buerkle-de-la-Camp-Platz 1, D-44789, Bochum, Germany.
    Feldkirchner S; Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians University of Munich, D-80336, Munich, Germany.
    Schessl J; Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians University of Munich, D-80336, Munich, Germany.
    Uszkoreit J; Medizinisches Proteom-Center, Ruhr-University Bochum, D-44801, Bochum, Germany.
    Barkovits K; Medizinisches Proteom-Center, Ruhr-University Bochum, D-44801, Bochum, Germany.
    Güttsches AK; Department of Neurology, Heimer Institute for Muscle Research, University Hospital Bergmannsheil, Ruhr-University Bochum, Buerkle-de-la-Camp-Platz 1, D-44789, Bochum, Germany.
    Theis V; Medizinisches Proteom-Center, Ruhr-University Bochum, D-44801, Bochum, Germany.; Department of Cytology, Institute of Anatomy, Ruhr-University Bochum, D-44801, Bochum, Germany.
    Eisenacher M; Medizinisches Proteom-Center, Ruhr-University Bochum, D-44801, Bochum, Germany.
    Tegenthoff M; Department of Neurology, Heimer Institute for Muscle Research, University Hospital Bergmannsheil, Ruhr-University Bochum, Buerkle-de-la-Camp-Platz 1, D-44789, Bochum, Germany.
    Goldfarb LG; Clinical Neurogenetics, National Institutes of Health, MSC 9404, Bethesda, MD, USA.
    Schröder R; Institute of Neuropathology, University Hospital Erlangen, D-91054, Erlangen, Germany.
    Schoser B; Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians University of Munich, D-80336, Munich, Germany.
    van der Ven PF; Institute for Cell Biology, University of Bonn, D-53121, Bonn, Germany.
    Fürst DO; Institute for Cell Biology, University of Bonn, D-53121, Bonn, Germany.
    Vorgerd M; Department of Neurology, Heimer Institute for Muscle Research, University Hospital Bergmannsheil, Ruhr-University Bochum, Buerkle-de-la-Camp-Platz 1, D-44789, Bochum, Germany.
    Marcus K; Medizinisches Proteom-Center, Ruhr-University Bochum, D-44801, Bochum, Germany.
    Kley RA; Department of Neurology, Heimer Institute for Muscle Research, University Hospital Bergmannsheil, Ruhr-University Bochum, Buerkle-de-la-Camp-Platz 1, D-44789, Bochum, Germany. .
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    Źródło:
    Acta neuropathologica communications [Acta Neuropathol Commun] 2016 Feb 03; Vol. 4, pp. 8. Date of Electronic Publication: 2016 Feb 03.
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Immunohistochemistry*
    Myopathies, Structural, Congenital*/complications
    Myopathies, Structural, Congenital*/metabolism
    Myopathies, Structural, Congenital*/pathology
    Proteomics*
    Muscle Proteins/*metabolism
    Protein Aggregation, Pathological/*etiology
    Aged ; Aged, 80 and over ; Female ; Humans ; Male ; Mass Spectrometry ; Microscopy, Confocal ; Middle Aged ; Muscle Proteins/genetics ; Muscle, Skeletal/metabolism ; Muscle, Skeletal/pathology ; Mutation/genetics ; Protein Aggregation, Pathological/pathology
    SCR Disease Name:
    Myotilinopathy
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Exome sequencing identifies titin mutations causing hereditary myopathy with early respiratory failure (HMERF) in families of diverse ethnic origins.
    Autorzy:
    Toro C; Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
    Olivé M
    Dalakas MC
    Sivakumar K
    Bilbao JM
    Tyndel F
    Vidal N
    Farrero E
    Sambuughin N
    Goldfarb LG
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    Źródło:
    BMC neurology [BMC Neurol] 2013 Mar 20; Vol. 13, pp. 29. Date of Electronic Publication: 2013 Mar 20.
    Typ publikacji:
    Journal Article; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Family Health*
    Genetic Diseases, Inborn/*ethnology
    Genetic Diseases, Inborn/*genetics
    Muscle Proteins/*genetics
    Muscular Diseases/*ethnology
    Muscular Diseases/*genetics
    Mutation/*genetics
    Protein Kinases/*genetics
    Respiratory Insufficiency/*ethnology
    Respiratory Insufficiency/*genetics
    Adolescent ; Adult ; Connectin ; DNA Mutational Analysis ; Disability Evaluation ; Electromyography ; Exome/genetics ; Female ; Genetic Diseases, Inborn/diagnosis ; Humans ; Male ; Muscle Proteins/metabolism ; Muscle Strength/genetics ; Muscle, Skeletal/diagnostic imaging ; Muscle, Skeletal/metabolism ; Muscle, Skeletal/physiopathology ; Muscle, Skeletal/ultrastructure ; Muscular Diseases/diagnosis ; Polymorphism, Single Nucleotide ; Respiratory Insufficiency/diagnosis ; Tomography, X-Ray Computed ; United States/ethnology ; Young Adult
    SCR Disease Name:
    Hereditary Myopathy with Early Respiratory Failure
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy.
    Autorzy:
    Juan-Mateu J; Servei de Genètica, Hospital de la Santa Creu i Sant Pau and CIBERER, Barcelona, Spain.
    Rodríguez MJ
    Nascimento A
    Jiménez-Mallebrera C
    González-Quereda L
    Rivas E
    Paradas C
    Madruga M
    Sánchez-Ayaso P
    Jou C
    González-Mera L
    Munell F
    Roig-Quilis M
    Rabasa M
    Hernández-Lain A
    Díaz-Manera J
    Gallardo E
    Pascual J
    Verdura E
    Colomer J
    Baiget M
    Olivé M
    Gallano P
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    Źródło:
    Orphanet journal of rare diseases [Orphanet J Rare Dis] 2012 Oct 23; Vol. 7, pp. 82. Date of Electronic Publication: 2012 Oct 23.
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Genetic Carrier Screening*
    X Chromosome Inactivation*
    Dystrophin/*genetics
    Muscular Dystrophies/*genetics
    Adolescent ; Adult ; Aged ; Biopsy ; Child ; Child, Preschool ; Female ; Humans ; Muscle, Skeletal/pathology ; Muscular Dystrophies/pathology ; Mutation ; Prognosis ; Promoter Regions, Genetic ; Young Adult
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy.
    Autorzy:
    Shatunov A; National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892-9404, USA.
    Olivé M
    Odgerel Z
    Stadelmann-Nessler C
    Irlbacher K
    van Landeghem F
    Bayarsaikhan M
    Lee HS
    Goudeau B
    Chinnery PF
    Straub V
    Hilton-Jones D
    Damian MS
    Kaminska A
    Vicart P
    Bushby K
    Dalakas MC
    Sambuughin N
    Ferrer I
    Goebel HH
    Goldfarb LG
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    Źródło:
    European journal of human genetics : EJHG [Eur J Hum Genet] 2009 May; Vol. 17 (5), pp. 656-63. Date of Electronic Publication: 2008 Dec 03.
    Typ publikacji:
    Journal Article; Multicenter Study; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Sequence Deletion*
    Contractile Proteins/*genetics
    Microfilament Proteins/*genetics
    Muscular Diseases/*genetics
    Repetitive Sequences, Nucleic Acid/*genetics
    Amino Acid Sequence ; Contractile Proteins/metabolism ; DNA Mutational Analysis ; Family Health ; Female ; Filamins ; Humans ; Immunoblotting ; Immunoglobulins/genetics ; Immunohistochemistry ; Male ; Microfilament Proteins/metabolism ; Microscopy, Electron ; Molecular Sequence Data ; Muscle, Skeletal/metabolism ; Muscle, Skeletal/pathology ; Muscle, Skeletal/ultrastructure ; Muscular Diseases/metabolism ; Muscular Diseases/pathology ; Mutation ; Myofibrils/metabolism ; Myofibrils/pathology ; Sequence Homology, Amino Acid
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Glycogen branching enzyme deficiency in an infant with severe congenital hypotonia: an emerging diagnosis of muscle weakness in the perinatal period.
    Autorzy:
    Jimenez-Mallebrera C
    Nascimento A
    Cusi V
    Corbera JR
    Rolland MO
    Froissart R
    Olivé M
    Ferrer I
    Colomer J
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    Źródło:
    Histopathology [Histopathology] 2009 May; Vol. 54 (6), pp. 765-8.
    Typ publikacji:
    Case Reports; Letter
    MeSH Terms:
    Glycogen Storage Disease Type III/*pathology
    Muscle Hypotonia/*congenital
    Muscle Weakness/*diagnosis
    1,4-alpha-Glucan Branching Enzyme/genetics ; Humans ; Infant ; Male ; Muscle Weakness/genetics ; Quadriceps Muscle/pathology
    Raport
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Expression of mutant ubiquitin (UBB+1) and p62 in myotilinopathies and desminopathies.
    Autorzy:
    Olivé M; Institut de Neuropatologia, Servei Anatomia Patològica, IDIBELL-Hospital Universitari de Bellvitge, Barcelona, Spain. />van Leeuwen FW
    Janué A
    Moreno D
    Torrejón-Escribano B
    Ferrer I
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    Źródło:
    Neuropathology and applied neurobiology [Neuropathol Appl Neurobiol] 2008 Feb; Vol. 34 (1), pp. 76-87. Date of Electronic Publication: 2007 Oct 11.
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Adaptor Proteins, Signal Transducing/*biosynthesis
    Cytoskeletal Proteins/*genetics
    Desmin/*genetics
    Muscle Proteins/*genetics
    Muscular Diseases/*metabolism
    Ubiquitin/*biosynthesis
    Aged ; Aged, 80 and over ; Biopsy ; Connectin ; Female ; Fluorescent Antibody Technique ; Humans ; Immunohistochemistry ; Male ; Microfilament Proteins ; Microscopy, Confocal ; Middle Aged ; Muscular Diseases/genetics ; Muscular Diseases/pathology ; Mutation ; Sequestosome-1 Protein ; Ubiquitin/genetics
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
      Wyświetlanie 1-11 z 11

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