المؤلفون: Labasse, Clémence, Brochier, Guy, Taratuto, Ana-Lia, Cadot, Bruno, Rendu, John, Monges, Soledad, Biancalana, Valérie, Quijano-Roy, Susana, Bui, Mai Thao, Chanut, Anaïs, Madelaine, Angéline, Lacène, Emmanuelle, Beuvin, Maud, Amthor, Helge, Servais, Laurent, de Feraudy, Yvan, Erro, Marcela, Saccoliti, Maria, Neto, Osorio Abath, Fauré, Julien, Lannes, Béatrice, Laugel, Vincent, Coppens, Sandra, Lubieniecki, Fabiana, Bello, Ana Buj, Laing, Nigel, Evangelista, Teresinha, Laporte, Jocelyn, Böhm, Johann, Romero, Norma B

المصدر: Acta Neuropathologica Communications, 10 (1), 101 (2022-07)

مصطلحات موضوعية: ACTA1, Congenital myopathy, Cytoplasmic bodies, Intranuclear rods, Nemaline rods, Neuromuscular junction, Nuclear envelope, Actins, Actins/genetics, Actins/metabolism, Biopsy, Child, Female, Humans, Muscle Weakness/metabolism, Muscle, Skeletal/pathology, Mutation/genetics, Nuclear Envelope/metabolism, Nuclear Envelope/pathology, Pregnancy, Myopathies, Nemaline/genetics, Myopathies, Nemaline/pathology, Muscle Weakness, Muscle, Skeletal, Mutation, Myopathies, Nemaline, Pathology and Forensic Medicine, Neurology (clinical), Cellular and Molecular Neuroscience, Human health sciences, Neurology, Pediatrics, Sciences de la santé humaine, Neurologie, Pédiatrie

Relation: https://link.springer.com/content/pdf/10.1186/s40478-022-01400-0.pdf; urn:issn:2051-5960

URL الوصول: https://orbi.uliege.be/handle/2268/295917

المؤلفون: Garibaldi, Matteo, Rendu, John, Brocard, Julie, Lacene, Emmanuelle, Faure, Julien, Brochier, Guy, Beuvin, Maud, Labasse, Clemence, Madelaine, Angeline, Malfatti, Edoardo, Bevilacqua-Rivas, Jorge Alfredo, Lubieniecki, Fabiana, Monges, Soledad, Taratuto, Ana Lia, Laporte, Jocelyn, Marty, Isabelle, Antonini, Giovanni

Relation: handle/10533/111557; handle/10533/111541; handle/10533/108045; https://doi.org/10.1186/s40478-018-0655-5; 1151383; WOS:000454874500001; https://hdl.handle.net/10533/251896

الاتاحة: https://hdl.handle.net/10533/251896

المؤلفون: Loos, Mariana Amina, Gomez, Gimena, Mayorga, Lía, Caraballo, Roberto Horacio, Eiroa, Hernán Diego, Obregon, María Gabriela, Rugilo, Carlos, Lubieniecki, Fabiana, Taratuto, Ana Lía, Saccoliti, María, Alonso, Cristina Noemi, Aráoz, Hilda Verónica

المصدر: Molecular Genetics and Metabolism Reports ; volume 27, page 100733 ; ISSN 2214-4269

الاتاحة: http://dx.doi.org/10.1016/j.ymgmr.2021.100733
https://api.elsevier.com/content/article/PII:S2214426921000276?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2214426921000276?httpAccept=text/plain

المؤلفون: Palmio, Johanna, Evila, Anni, Chapon, Francoise, Tasca, Giorgio, Xiang, Fengqing, Brådvik, Björn, Eymard, Bruno, Echaniz-Laguna, Andoni, Laporte, Jocelyn, Karppa, Mikko, Mahjneh, Ibrahim, Quinlivan, Rosaline, Laforet, Pascal, Damian, Maxwell, Berardo, Andres, Taratuto, Ana Lia, Bueri, Jose Antonio, Tommiska, Johanna, Raivio, Taneli, Tuerk, Matthias, Goelitz, Philipp, Chevessier, Frederic, Sewry, Caroline, Norwood, Fiona, Hedberg, Carola, Schroeder, Rolf, Edstrom, Lars, Oldfors, Anders, Hackman, Peter, Udd, Bjarne

المصدر: Journal of Neurology, Neurosurgery and Psychiatry. 85(3):345-353

مصطلحات موضوعية: EPIDEMIOLOGY, GENETICS, MYOPATHY, Medicin och hälsovetenskap, Klinisk medicin, Neurologi, Medical and Health Sciences, Clinical Medicine, Neurology

وصف الملف: electronic

URL الوصول: https://lup.lub.lu.se/record/4417638
https://portal.research.lu.se/files/3444573/4779701.pdf
http://dx.doi.org/10.1136/jnnp-2013-304965

المؤلفون: Garibaldi, Matteo, Rendu, John, Brocard, Julie, Lacène, Emmanuelle, Fauré, Julien, Brochier, Guy, Beuvin, Maud, Labasse, Clémence, Madelaine, Angéline, Malfatti, Edoardo, Bevilacqua, Jorge, Alfredo, Lubieniecki, Fabiana, Monges, Soledad, Taratuto, Ana, Lía, Laporte, Jocelyn, Marty, Isabelle, Antonini, Giovanni, Romero, Norma Beatriz

المساهمون: Institut de Myologie, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Università degli Studi di Roma "La Sapienza" = Sapienza University Rome (UNIROMA), GIN Grenoble Institut des Neurosciences (GIN), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Grenoble Alpes 2016-2019 (UGA 2016-2019 ), Centre Hospitalier Universitaire CHU Grenoble (CHUGA), Université Pierre et Marie Curie - Paris 6 (UPMC)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Sorbonne Université - Faculté de Médecine (SU FM), Sorbonne Université (SU), Hôpital Raymond Poincaré AP-HP, Handicap neuromusculaire : Physiopathologie, Biothérapie et Pharmacologies appliquées (END-ICAP), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Institut National de la Santé et de la Recherche Médicale (INSERM), Universidad de Chile = University of Chile Santiago (UCHILE), Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia Buenos Aires (FLENI), FLENI, Institut de génétique et biologie moléculaire et cellulaire (IGBMC), Université Louis Pasteur - Strasbourg I-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Université de Strasbourg (UNISTRA)

المصدر: ISSN: 2051-5960 ; Acta Neuropathologica Communications ; https://hal.sorbonne-universite.fr/hal-01973947 ; Acta Neuropathologica Communications, 2019, 7 (3), ⟨10.1186/s40478-018-0655-5⟩.

مصطلحات موضوعية: RYR1 recessive, Dusty Core Disease, Central Core Disease, Congenital Myopathy, Centronuclear myopathy, Ryanodine receptor, [SDV]Life Sciences [q-bio], [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]

الاتاحة: https://hal.sorbonne-universite.fr/hal-01973947
https://hal.sorbonne-universite.fr/hal-01973947v1/document
https://hal.sorbonne-universite.fr/hal-01973947v1/file/Garibaldi2019_Article_DustyCoreDiseaseDuCDExpandingM.pdf
https://doi.org/10.1186/s40478-018-0655-5

المؤلفون: Berardo, Andrés, Lornage, Xavière, Johari, Mridul, Evangelista, Teresinha, Cejas, Claudia, Barroso, Fabio, Dubrovsky, Alberto, Bui, Mai Thao, Brochier, Guy, Saccoliti, Maria, Bohm, Johann, Udd, Bjarne, Laporte, Jocelyn, Romero, Norma Beatriz, Taratuto, Ana Lia

المساهمون: Department of Medical and Clinical Genetics, University of Helsinki

مصطلحات موضوعية: Neurosciences, Neurology and psychiatry

وصف الملف: application/pdf

Relation: Berardo , A , Lornage , X , Johari , M , Evangelista , T , Cejas , C , Barroso , F , Dubrovsky , A , Bui , M T , Brochier , G , Saccoliti , M , Bohm , J , Udd , B , Laporte , J , Romero , N B & Taratuto , A L 2019 , ' HNRNPDL-related muscular dystrophy: expanding the clinical, morphological and MRI phenotypes ' , Journal of Neurology , vol. 266 , no. 10 , pp. 2524-2534 . https://doi.org/10.1007/s00415-019-09437-3; RIS: urn:10377E07935026FE6246D86165EFA568; RIS: Berardo2019; ORCID: /0000-0002-3549-558X/work/64326098; http://hdl.handle.net/10138/306750; 1982e710-b2e4-49c0-bdc3-6a12e57b526e; 000487923200021

الاتاحة: http://hdl.handle.net/10138/306750

المؤلفون: Allamand, Valérie, Monges, Maria Soledad, Gartioux, Corine, Taratuto, Ana Lia, Becdelièvre, Alix De, Donkervoort, Sandra, Li, Dong, Hakonarson, Hakon, Ariste, Olivier, Lejeune, Elodie, Keren, Boris, Leeson, Michael, Foley, a Reghan, Bönnemann, Carsten G, Quijano-Roy, Susana, Métay, Corinne, Watson, Deborah J

المساهمون: Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Departement of neuropathology, FLENI Institute for Neurological Research, Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), National Institutes of Health Bethesda, MD, USA (NIH), Key Laboratory of Plant-Soil Interactions - College of Resources and Environmental Sciences (PSI), China Agricultural University (CAU), Children’s Hospital of Philadelphia (CHOP), GenoSplice Paris, Paris Biotech Santé, CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), National Institute of Neurological Disorders and Stroke Bethesda (NINDS), Service de Pédiatrie, Rééducation et Réanimation Neurorespiratoire, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Raymond Poincaré AP-HP

المصدر: Myology 2022 ; https://hal.science/hal-04029226 ; Myology 2022, Sep 2022, Nice, France

مصطلحات موضوعية: [SDV]Life Sciences [q-bio]

جغرافية الموضوع: Nice, France

Time: Nice, France

الاتاحة: https://hal.science/hal-04029226

المؤلفون: Ávila-Polo, Rainiero, Malfatti, Edoardo, Lornage, Xavière, Cheraud, Chrystel, Nelson, Isabelle, Nectoux, Juliette, Böhm, Johann, Schneider, Raphaël, Hedberg-Oldfors, Carola, Eymard, Bruno, Monges, Soledad, Lubieniecki, Fabiana, Brochier, Guy, Thao Bui, Mai, Madelaine, Angeline, Labasse, Clémence, Beuvin, Maud, Lacène, Emmanuelle, Boland, Anne, Deleuze, Jean-François, Thompson, Julie, Richard, Isabelle, Taratuto, Ana Lía, Udd, Bjarne, Leturcq, France, Bonne, Gisèle, Oldfors, Anders, Laporte, Jocelyn, Romero, Norma Beatriz

مصطلحات موضوعية: Adolescent, Adult, Child, Preschool, Connectin, Female, Humans, Infant, Newborn, Male, Middle Aged, Muscle, Skeletal, Muscular Diseases, Retrospective Studies, Sarcomeres, Young Adult

Relation: http://hdl.handle.net/10668/13134; https://academic.oup.com/jnen/article-pdf/77/12/1101/26567920/nly095.pdf

الاتاحة: http://hdl.handle.net/10668/13134
https://doi.org/10.1093/jnen/nly095
https://academic.oup.com/jnen/article-pdf/77/12/1101/26567920/nly095.pdf

المؤلفون: Malfatti, Edoardo, Lehtokari, Vilma-Lotta, Böhm, Johann, De Winter, Josine M., Schäffer, Ursula, Estournet, Brigitte, Quijano-Roy, Susana, Monges, Soledad, Lubieniecki, Fabiana, Bellance, Remi, Viou, Mai Thao, Madelaine, Angéline, Wu, Bin, Taratuto, Ana Lía, Eymard, Bruno, Pelin, Katarina, Fardeau, Michel, Ottenheijm, Coen AC, Wallgren-Pettersson, Carina, Laporte, Jocelyn, Romero, Norma B.

المساهمون: Department of Medical and Clinical Genetics, Biosciences, Genetics, Haartman Institute (-2014)

مصطلحات موضوعية: Biochemistry, cell and molecular biology

وصف الملف: application/pdf

Relation: Malfatti , E , Lehtokari , V-L , Böhm , J , De Winter , J M , Schäffer , U , Estournet , B , Quijano-Roy , S , Monges , S , Lubieniecki , F , Bellance , R , Viou , M T , Madelaine , A , Wu , B , Taratuto , A L , Eymard , B , Pelin , K , Fardeau , M , Ottenheijm , C AC , Wallgren-Pettersson , C , Laporte , J & Romero , N B 2014 , ' Muscle histopathology in nebulin-related nemaline myopathy : ultrastrastructural findings correlated to disease severity and genotype ' , Acta Neuropathologica Communications , vol. 2 , 44 . https://doi.org/10.1186/2051-5960-2-44; RIS: urn:CD16C555B32C8227DC3165FFEB70CA28; ORCID: /0000-0002-7040-7266/work/29566616; ORCID: /0000-0002-8276-0972/work/44474051; http://hdl.handle.net/10138/209986; d015c258-4297-45f0-bf19-e515955e763e; 84911397019

الاتاحة: http://hdl.handle.net/10138/209986

المؤلفون: De Girolami, Umberto, Chimelli, Leila, Taratuto, Ana Lia

المصدر: Journal of Neuropathology & Experimental Neurology ; volume 77, issue 1, page 84-84 ; ISSN 0022-3069 1554-6578

مصطلحات موضوعية: Cellular and Molecular Neuroscience, Neurology (clinical), Neurology, General Medicine, Pathology and Forensic Medicine

الاتاحة: http://dx.doi.org/10.1093/jnen/nlx103
http://academic.oup.com/jnen/article-pdf/77/1/84/23228916/nlx103.pdf

المؤلفون: Beesley, Clare, Guerreiro, Rita J., Bras, Jose T., Williams, Ruth E., Taratuto, Ana Lia, Eltze, Christin, Mole, Sara E.

المساهمون: Wellcome Trust, Seventh Framework Programme, Medical Research Council, Batten Disease Support and Research Association, Alzheimer's Society

المصدر: Molecular Genetics & Genomic Medicine ; volume 5, issue 1, page 85-91 ; ISSN 2324-9269 2324-9269

الاتاحة: http://dx.doi.org/10.1002/mgg3.263
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fmgg3.263
https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.263

المؤلفون: Malfatti, Edoardo, Lehtokari, Vilma-Lotta, Böhm, Johann, de Winter, Josine, Schäffer, Ursula, Estournet, Brigitte, Quijano-Roy, Susana, Monges, Soledad, Lubieniecki, Fabiana, Bellance, Remi, Viou, Mai, Thao, Madelaine, Angéline, Wu, Bin, Taratuto, Ana, Lía, Eymard, Bruno, Pelin, Katarina, Fardeau, Michel, Ottenheijm, Coen, Wallgren-Pettersson, Carina, Laporte, Jocelyn, Romero, Norma

المساهمون: CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Department of Neurological, Neurosurgical, and Behavioral Sciences, Centre de recherche en myologie, Université Pierre et Marie Curie - Paris 6 (UPMC)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Department of Medical and Clinical Genetics Helsinki, Haartman Institute Helsinki, Faculty of Medecine Helsinki, Helsingin yliopisto = Helsingfors universitet = University of Helsinki-Helsingin yliopisto = Helsingfors universitet = University of Helsinki-Faculty of Medecine Helsinki, Helsingin yliopisto = Helsingfors universitet = University of Helsinki-Helsingin yliopisto = Helsingfors universitet = University of Helsinki, Folkhälsan Institute of Genetics, Biomedicum Helsinki, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Department of Physiology, Vrije Universiteit Amsterdam Amsterdam (VU), Hôpital Raymond Poincaré AP-HP, Handicap neuromusculaire : Physiopathologie, Biothérapie et Pharmacologies appliquées (END-ICAP), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hospital Nacional de Pediatría J.P. Garrahan, Instituto de Investigaciones Neurologicas (FLENI), Instituto de Investigaciones Neurologicas, CHU de Fort de France, Beijing Genomics Institute Shenzhen (BGI), Department of Biosciences, Division of Genetics, Assistance Publique-Hôpitaux de Paris (AP-HP), Institut National de la Santé et de la Recherche Médicale (INSERM), Association Française contre les Myopathies (AFM), Association Institut de Myologie (AIM), Agence Nationale de la Recherche (ANR-11-BSV1-026), Sigrid Jusélius Foundation, Finska Läkaresällskapet and Medicinska understödsföreningen Liv och Hälsa r.f.

المصدر: ISSN: 2051-5960 ; Acta Neuropathologica Communications ; https://inserm.hal.science/inserm-00987739 ; Acta Neuropathologica Communications, 2014, 2 (1), pp.44. ⟨10.1186/2051-5960-2-44⟩.

مصطلحات موضوعية: Congenital myopathies, Nemaline myopathy, Nebulin, Muscle contractility, [SDV.GEN]Life Sciences [q-bio]/Genetics, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

Relation: info:eu-repo/semantics/altIdentifier/pmid/24725366; inserm-00987739; https://inserm.hal.science/inserm-00987739; https://inserm.hal.science/inserm-00987739/document; https://inserm.hal.science/inserm-00987739/file/2051-5960-2-44.pdf; PUBMED: 24725366

الاتاحة: https://inserm.hal.science/inserm-00987739
https://inserm.hal.science/inserm-00987739/document
https://inserm.hal.science/inserm-00987739/file/2051-5960-2-44.pdf
https://doi.org/10.1186/2051-5960-2-44

المؤلفون: Böhm, Johann, Biancalana, Valérie, Malfatti, Edoardo, Dondaine, Nicolas, Koch, Catherine, Vasli, Nasim, Kress, Wolfram, Strittmatter, Matthias, Taratuto, Ana Lia, Gonorazky, Hernan, Laforêt, Pascal, Maisonobe, Thierry, Olivé, Montse, Gonzalez-Mera, Laura, Fardeau, Michel, Carrière, Nathalie, Clavelou, Pierre, Eymard, Bruno, Bitoun, Marc, Rendu, John, Fauré, Julien, Weis, Joachim, Mandel, Jean-Louis, Romero, Norma B., Laporte, Jocelyn

مصطلحات موضوعية: Original Articles

وصف الملف: text/html

Relation: http://brain.oxfordjournals.org/cgi/content/short/137/12/3160; http://dx.doi.org/10.1093/brain/awu272

الاتاحة: http://brain.oxfordjournals.org/cgi/content/short/137/12/3160
https://doi.org/10.1093/brain/awu272

المؤلفون: Malfatti, Edoardo, Olivé i Plana, Montserrat, Taratuto, Ana Lía, Richard, Pascale, Brochier, Guy, Bitoun, Marc, Gueneau, Lucie, Laforêt, Pascal, Stojkovic, Tanya, Maisonobe, Thierry, Monges, Soledad, Lubieniecki, Fabiana, Vasquez, Gabriel, Streichenberger, Nathalie, Lacène, Emmanuelle, Saccoliti, Maria, Prudhon, Bernard, Alexianu, Marilena, Figarella-Branger, Dominique, Schessl, Joachim, Bonnemann, Carsten, Eymard, Bruno, Fardeau, Michel, Bonne, Gisèle, Romero, Norma Beatriz

المصدر: Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))

مصطلحات موضوعية: Malalties musculars, Distròfia muscular, Muscular Diseases, Muscular dystrophy

وصف الملف: 23 p.; application/pdf

Relation: Versió postprint del document publicat a: https://doi.org/10.1097/NEN.0b013e3182a23506; Journal of Neuropathology and Experimental Neurology, 2013, vol. 72, num. 9, p. 833-845; https://doi.org/10.1097/NEN.0b013e3182a23506; http://hdl.handle.net/2445/126442

الاتاحة: http://hdl.handle.net/2445/126442

المؤلفون: Bitoun, Marc, Bevilacqua, Jorge, Alfredo, Prudhon, Bernard, Maugenre, Svetlana, Taratuto, Ana Lia, Monges, Soledad, Lubieniecki, Fabiana, Cances, Claude, Uro-Coste, Emmanuelle, Mayer, Michèle, Fardeau, Michel, Romero, Norma, Beatriz, Guicheney, Pascale

المساهمون: Institut de Myologie, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Universidad de Chile = University of Chile Santiago (UCHILE), Physiopathologie et thérapie du muscle strié, Université Pierre et Marie Curie - Paris 6 (UPMC)-IFR14-Institut National de la Santé et de la Recherche Médicale (INSERM), Departement of neuropathology, FLENI Institute for Neurological Research, Neuropaediatrics, Garrahan National Paediatric Hospital, Pathology, Pôle Enfants CHU Toulouse, Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Régulations cellulaires: lipidoses et atherosclerose, IFR 31 Louis Bugnard (IFR 31), Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Trousseau APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), CHU Pitié-Salpêtrière AP-HP, Coeur, Muscle et Vaisseaux, Université Pierre et Marie Curie - Paris 6 (UPMC)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)

المصدر: ISSN: 0364-5134.

مصطلحات موضوعية: [SDV]Life Sciences [q-bio], [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

Relation: hal-02448610; https://hal.science/hal-02448610; https://hal.science/hal-02448610/document; https://hal.science/hal-02448610/file/Bitoun-2007-Hal.pdf

الاتاحة: https://hal.science/hal-02448610
https://hal.science/hal-02448610/document
https://hal.science/hal-02448610/file/Bitoun-2007-Hal.pdf
https://doi.org/10.1002/ana.21235

المؤلفون: Cosacov, Rolando, Taratuto, Ana Lía, Ghiraridi, Graciela, Barrionuevo, Pilar, Díaz, Anatilde, Begué, Christian, Martinetto, Horacio

المصدر: Revista de la Facultad de Ciencias Médicas de Córdoba; Vol. 61 Núm. 1 (2004); 48 - 53 ; Revista da Faculdade de Ciências Médicas de Córdoba; v. 61 n. 1 (2004); 48 - 53 ; 1853-0605 ; 0014-6722

مصطلحات موضوعية: Creutsfeldt Jakob, Disease (CJD), E200K, Encefalopatía, Creutzfeldt Jakob, E200K familiar

وصف الملف: application/pdf

Relation: https://revistas.unc.edu.ar/index.php/med/article/view/32933/33546; https://revistas.unc.edu.ar/index.php/med/article/view/32933

الاتاحة: https://revistas.unc.edu.ar/index.php/med/article/view/32933

المؤلفون: Castiglione, Juan, Marrodan, Mariano, Taratuto, Ana Lia, Alessandro, Lucas, Brand, Patricio, Barroso, Fabio Adrian

المصدر: Neurology ; volume 92, issue 15_supplement ; ISSN 0028-3878 1526-632X

الاتاحة: http://dx.doi.org/10.1212/wnl.92.15_supplement.p2.4-008

المؤلفون: STEMMER-RACHAMIMOV, ANAT O., HORGAN, MICHAEL A., TARATUTO, ANA LIA, MUNOZ, DAVID G., SMITH, THOMAS W., FROSCH, MATTHEW P., LOUIS, DAVID N.

المصدر: Journal of Neuropathology and Experimental Neurology ; volume 56, issue 5, page 485-489 ; ISSN 0022-3069

مصطلحات موضوعية: Cellular and Molecular Neuroscience, Neurology (clinical), Neurology, General Medicine, Pathology and Forensic Medicine

الاتاحة: http://dx.doi.org/10.1097/00005072-199705000-00004
http://academic.oup.com/jnen/article-pdf/56/5/485/8134944/56-5-485.pdf

المؤلفون: Schartner, Vanessa, Romero, Norma B., Donkervoort, Sandra, Treves, Susan, Munot, Pinki, Pierson, Tyler Mark, Dabaj, Ivana, Malfatti, Edoardo, Zaharieva, Irina T., Zorzato, Francesco, Abath Neto, Osorio, Brochier, Guy, Lornage, Xavière, Eymard, Bruno, Taratuto, Ana Lia, Bohm, Johann, Gonorazky, Hernan, Ramos-Platt, Leigh, Feng, Lucy, Phadke, Rahul, Bharucha-Goebel, Diana X., Sumner, Charlotte Jane, Bui, Mai Thao, Lacene, Emmanuelle, Beuvin, Maud, Labasse, Clémence, Dondaine, Nicolas, Schneider, Raphael, Thompson, Julie, Boland, A., Deleuze, Jean-François, Matthews, Emma, Pakleza, Aleksandra Nadaj, Sewry, Caroline A., Biancalana, Valérie, Quijano-Roy, Susana, Muntoni, Francesco, Fardeau, Michel, Bönnemann, Carsten G., Laporte, Jocelyn

Relation: Schartner, Vanessa and Romero, Norma B. and Donkervoort, Sandra and Treves, Susan and Munot, Pinki and Pierson, Tyler Mark and Dabaj, Ivana and Malfatti, Edoardo and Zaharieva, Irina T. and Zorzato, Francesco and Abath Neto, Osorio and Brochier, Guy and Lornage, Xavière and Eymard, Bruno and Taratuto, Ana Lia and Bohm, Johann and Gonorazky, Hernan and Ramos-Platt, Leigh and Feng, Lucy and Phadke, Rahul and Bharucha-Goebel, Diana X. and Sumner, Charlotte Jane and Bui, Mai Thao and Lacene, Emmanuelle and Beuvin, Maud and Labasse, Clémence and Dondaine, Nicolas and Schneider, Raphael and Thompson, Julie and Boland, A. and Deleuze, Jean-François and Matthews, Emma and Pakleza, Aleksandra Nadaj and Sewry, Caroline A. and Biancalana, Valérie and Quijano-Roy, Susana and Muntoni, Francesco and Fardeau, Michel and Bönnemann, Carsten G. and Laporte, Jocelyn. (2017) Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy. Acta neuropathologica, 133 (4). pp. 517-533.; info:pmid/28012042; urn:ISSN:0001-6322; urn:ISSN:1432-0533

الاتاحة: https://edoc.unibas.ch/62497/
https://doi.org/10.1007/s00401-016-1656-8

المؤلفون: Rosales, Julieta, Medina, Nancy, Martinez, Nerina, Quirofa, Sergio Rodriguez, Cordoba, Marta, Dustafante, Cecilia Vazquez, Vega, Patricia, Taratuto, Ana Lía, Kauffman, Marcelo, Morón, Dolores Gonzalez

المصدر: Neurology ; volume 88, issue 16_supplement ; ISSN 0028-3878 1526-632X

الاتاحة: http://dx.doi.org/10.1212/wnl.88.16_supplement.p2.188