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المؤلفون: Ivo N van Schaik, Orell Mielke, Arman Sabet, Koshy George, Leslie Roberts, Ross Carne, Stefan Blum, Robert Henderson, Philip Van Damme, Jelle Demeestere, Sandrine Larue, Catherine-Andree Pinard D'Amour, Vera Bril, Ari Breiner, Pavel Kunc, Martin Valis, Jana Sussova, Tomas Kalous, Radomir Talab, Michal Bednar, Toomas Toomsoo, Inna Rubanovits, Katrin Gross-Paju, Ulvi Sorro, Mika Saarela, Mari Auranen, Jean Pouget, Shahram Attarian, Gwendal Le Masson, Anne-Cécile Wielanek-Bachelet, Claude Desnuelle, Emilien Delmont, Pierre Clavelou, Dominique Aufauvre, Jens Schmidt, Jana Zschuentssch, Claudia Sommer, Daniela Kramer, Olaf Hoffmann, Carsten Goerlitz, Judith Haas, Marko Chatzopoulos, Min-Suk Yoon, Ralf Gold, Peter Berlit, Andrea Jaspert-Grehl, David Liebetanz, Anna Kutschenko, Martin Stangel, Corinna Trebst, Petra Baum, Florian Then Bergh, Juliane Klehmet, Andreas Meisel, Fabian Klostermann, Johanna Oechtering, Helmar Lehmann, Michael Schroeter, Tim Hagenacker, Daniel Mueller, Anne-Dorte Sperfeld, Florian Bethke, Hans-Peter Hartung, Vivian Drory, Avi Algom, David Yarnitsky, Beth Brianna Murinson, Antonio Di Muzio, Fausta Ciccocioppo, Sandro Sorbi, Sabrina Mata, Angelo Schenone, Marina Grandis, Giuseppe Lauria, Daniele Cazzato, Giovanni Antonini, Stefania Morino, Dario Cocito, Maurizio Zibetti, Takanori Yokota, Takuya Ohkubo, Takashi Kanda, Motoharu Kawai, Kenichi Kaida, Hiroyuki Onoue, Satoshi Kuwabara, Masahiro Mori, Masahiro Iijima, Ken Ohyama, Gen Sobue, Masayuki Baba, Masahiko Tomiyama, Kazutoshi Nishiyama, Tsugio Akutsu, Kazumasa Yokoyama, Kazuaki Kanai, Ivo N. van Schaik, Filip Eftimov, Nicolette. C. Notermans, Nora. A. Visser, Catharina Faber, Janneke. G.J. Hoeijmakers, Ingemar S.J. Merkies, Nan van Geloven, Konrad Rejdak, Urszula Chyrchel-Paszkiewicz, Carlos Casanovas Pons, María Antonia Alberti Aguiló, Josep Gamez, María Figueras, Celedonio Marquez Infante, Sonia Benitez Rivero, Michael Lunn, Jasper Morrow, David Gosal, Timothy Myles Lavin, Isaac Melamed, Alessandro Testori, Senda Ajroud-Driss, Daniela Menichella, Ericka Simpson, Eugene Chi-Ho Lai, Mazen Dimachkie, Richard J. Barohn, Said Beydoun, Harpreet Johl, Dale Lange, Alexander Shtilbans, Suraj Muley, Shafeeq Ladha, Miriam Freimer, John Kissel, Norman Latov, Russell Chin, Eroboghene Ubogu, Sandi Mumfrey, T. Hermanth P. Rao, Paul MacDonald, Khema Sharma, Ginna Gonzalez, Jeffrey Allen, David Walk, Lisa Hobson-Webb, Karissa Gable, Richard A. Lewis, David R. Cornblath, John-Phillip Lawo, Michaela Praus, Billie L. Durn
المساهمون: Hagenacker, Tim (Beitragende*r), Amsterdam Neuroscience - Neuroinfection & -inflammation, AII - Inflammatory diseases, Neurology
المصدر: Lancet neurology, 17(5), 393-394. Lancet Publishing Group
مصطلحات موضوعية: medicine.medical_specialty, biology, business.industry, Medizin, Immunoglobulins, Intravenous, Chronic inflammatory demyelinating polyneuropathy, Subcutaneous immunoglobulin, medicine.disease, Gastroenterology, Pharmacokinetics, Internal medicine, biology.protein, medicine, Administration, Intravenous, Neurology (clinical), Antibody, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5bbab476f42fdc4ef954363ef718221Test
http://hdl.handle.net/11567/941843Test -
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المؤلفون: Emmanuelle Salort-Campana, Emilien Delmont, Annie Verschueren, Shahram Attarian, Sébastien Gazzola, Anne-Michèle Hubert, José Boucraut, Emmanuel Sagui, Jérôme Franques, Jean Pouget
المساهمون: Institut de Neurosciences des Systèmes (INS), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut National de la Santé et de la Recherche Médicale (INSERM)
المصدر: Journal of the Neurological Sciences
Journal of the Neurological Sciences, 2017, 377, pp.144-148. ⟨10.1016/j.jns.2017.04.015⟩مصطلحات موضوعية: Male, medicine.medical_specialty, Neural Conduction, Paraproteinemias, Disease, Gastroenterology, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Humans, Immunologic Factors, In patient, 030212 general & internal medicine, ComputingMilieux_MISCELLANEOUS, Aged, Retrospective Studies, Aged, 80 and over, Myelin-associated glycoprotein, biology, business.industry, [SCCO.NEUR]Cognitive science/Neuroscience, Anti mag, Peripheral Nervous System Diseases, Retrospective cohort study, Middle Aged, medicine.disease, Surgery, Myelin-Associated Glycoprotein, Treatment Outcome, Peripheral neuropathy, Immunoglobulin M, nervous system, Neurology, biology.protein, Female, Rituximab, Neurology (clinical), business, 030217 neurology & neurosurgery, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7d6aaf54725853fb59d2b09220e1258Test
https://hal.science/hal-03614407Test -
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المؤلفون: Filnemus, Jean Pouget, Capucine Trollet, Alix de Becdelièvre, Pascale Richard, Sophie Périé, Tanya Stojkovic, Bruno Eymard
المساهمون: Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)-IFR10, Institut de Cardiométabolisme et Nutrition = Institute of Cardiometabolism and Nutrition [CHU Pitié Salpêtrière] (IHU ICAN), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)
المصدر: Neurology
Neurology, American Academy of Neurology, 2017, 88 (4), pp.359-365. ⟨10.1212/WNL.0000000000003554⟩
ResearcherIDمصطلحات موضوعية: Adult, Male, 0301 basic medicine, Heterozygote, medicine.medical_specialty, Genotyping Techniques, Population, Poly(A)-Binding Protein I, Severity of Illness Index, Gastroenterology, Article, Oculopharyngeal muscular dystrophy, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Gene Frequency, Muscular Dystrophy, Oculopharyngeal, Internal medicine, Severity of illness, Genotype, medicine, Humans, Triplet expansion disease, Muscular dystrophy, Allele, education, Allele frequency, Genetic Association Studies, Aged, education.field_of_study, [SDV.GEN]Life Sciences [q-bio]/Genetics, business.industry, PABPN1, Homozygote, Age Factors, Middle Aged, medicine.disease, 3. Good health, 030104 developmental biology, OPMD, Female, France, Neurology (clinical), Trinucleotide Repeat Expansion, Trinucleotide repeat expansion, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::59a253f0fe2de2125d4b281c2cf2694aTest
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المصدر: La Revue de Médecine Interne. 35:430-436
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Muscle biopsy, medicine.diagnostic_test, business.industry, Elevated creatine kinase level, Gastroenterology, Autoantibody, Clinical course, food and beverages, MUSCLE NECROSIS, medicine.disease, Malignancy, Connective tissue disease, Internal Medicine, Medicine, Muscular dystrophy, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::44a88bc43d0c1f34ac59966d7910625eTest
https://doi.org/10.1016/j.revmed.2013.11.012Test -
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المؤلفون: Pierre Kaminsky, Cécile Acquaviva-Bourdain, L Pérard, S. Souvannanorath, Christine Vianey-Saban, Bruno Eymard, Pascal Laforêt, Jean Pouget, Anthony Behin, A Fouilhoux, Guillaume Bassez, O Rigal, S. Attarian, Nathalie Streichenberger, A Labarre-Villa, C Vanhulle, M. Brivet, Annie Laquerrière
المساهمون: Cardiovasculaire, métabolisme, diabétologie et nutrition (CarMeN), Hospices Civils de Lyon (HCL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Université de Lyon-Institut National des Sciences Appliquées (INSA)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Institut National de la Recherche Agronomique (INRA), Institut National de la Recherche Agronomique (INRA)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Hospices Civils de Lyon (HCL)
المصدر: Revue Neurologique
Revue Neurologique, Elsevier Masson, 2016, 172 (3), pp.231-41. ⟨10.1016/j.neurol.2015.11.008⟩مصطلحات موضوعية: Adult, Iron-Sulfur Proteins, Male, 0301 basic medicine, medicine.medical_specialty, Weakness, Electron-Transferring Flavoproteins, Biopsy, [SDV]Life Sciences [q-bio], Exercise intolerance, Compound heterozygosity, Gastroenterology, Lipid Metabolism, Inborn Errors, Rhabdomyolysis, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Carnitine, Internal medicine, Humans, Medicine, Age of Onset, Multiple Acyl Coenzyme A Dehydrogenase Deficiency, Muscle, Skeletal, Multiple Acyl-CoA Dehydrogenase Deficiency, Exercise, Oxidoreductases Acting on CH-NH Group Donors, Muscle biopsy, medicine.diagnostic_test, Electromyography, business.industry, Muscle weakness, Neuromuscular Diseases, Middle Aged, medicine.disease, 3. Good health, 030104 developmental biology, Endocrinology, Mitochondrial respiratory chain, Neurology, Mutation, Female, France, Neurology (clinical), medicine.symptom, business, Oxidation-Reduction, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2eb56e09841a54eed0e19be462193f11Test
https://hal.archives-ouvertes.fr/hal-01850374Test -
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المؤلفون: Juan Buades, Hartmut Schmidt, Akshay Vaishnaw, Josep M. Campistol, David Adams, Jean Pouget, Jared Gollob, Brian Bettencourt, Ole B. Suhr, Isabel Conceição, Teresa Coelho, John L. Berk, Márcia Waddington-Cruz
المساهمون: Department of Public Health & Clinical Medicine, Section for Medicine, Umeå University Hospital Sweden, Hospital de Santo António, Centro Hospitalar do Porto, Servicio de Medicina Interna, Hospital Son Llatzer, Hôpital de la Timone [CHU - APHM] (TIMONE), Centro Hospitalar Lisboa Norte-Hospital de Santa Maria, Boston University [Boston] (BU), Universitätsklinikum Münster, Hospital Universitário Clementino Fraga Filho, Federal University of Rio de Janeiro, Hospital Clinic, University of Barcelona, Alnylam Pharmaceuticals, National Reference Center for FAP (NNERF)/ APHP/ INSERM U 1191, Hôpital de Bicêtre, HAL AMU, Administrateur
المصدر: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, BioMed Central, 2015, 10 (109 ), ⟨10.1186/s13023-015-0326-6⟩
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAPمصطلحات موضوعية: Male, neuropatías amiloideas, humanos, Transthyretin-mediated familial amyloidotic polyneuropathy, Genetic mutation, Amyloid Neuropathies, Gastroenterology, 0302 clinical medicine, RNA interference, Genetics(clinical), Pharmacology (medical), RNA, Small Interfering, mediana edad, Genetics (clinical), Medicine(all), anciano, 0303 health sciences, education.field_of_study, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, biology, Amyloidosis, General Medicine, Middle Aged, RNA interferenc, Phase II, 3. Good health, ARN, Clinical trial, Tolerability, Vomiting, Patisiran, Female, medicine.symptom, Polyneuropathy, medicine.medical_specialty, Population, Hereditary disease, 03 medical and health sciences, Pharmacokinetics, Internal medicine, medicine, Humans, education, 030304 developmental biology, Aged, Amyloid Neuropathies, Familial, Dose-Response Relationship, Drug, business.industry, Research, medicine.disease, Transthyretin, Endocrinology, Pharmacodynamics, biology.protein, RNA, business, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d843bffbb5a94fb26b80776a45cbe3cbTest
http://europepmc.org/articles/PMC4559363Test -
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المؤلفون: Juan Buades, Isabel Conceição, Hartmut Schmidt, Jared Gollob, T. Coelho, Ole B. Suhr, Márcia Waddington-Cruz, David H. Adams, John L. Berk, Jean Pouget, Josep M. Campistol
المصدر: Zeitschrift für Gastroenterologie. 53
مصطلحات موضوعية: business.industry, Phase (matter), Extension study, Gastroenterology, Cancer research, Amyloid polyneuropathy, Medicine, Open label, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::cf13c1708ea23d69a26843f0d681b884Test
https://doi.org/10.1055/s-0035-1559481Test -
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المؤلفون: Emmanuelle Salort-Campana, Jérôme Franques, Shahram Attarian, Elisabeth Jouve, Jean Pouget, Annie Verschueren
المصدر: Muscle & Nerve. 44:179-184
مصطلحات موضوعية: medicine.medical_specialty, Physiology, medicine.drug_class, business.industry, Muscle weakness, Retrospective cohort study, Polyradiculoneuropathy, medicine.disease, Gastroenterology, Response to treatment, Surgery, Cellular and Molecular Neuroscience, Peripheral nerve, Physiology (medical), Internal medicine, medicine, Corticosteroid, In patient, Neurology (clinical), medicine.symptom, business, Polyneuropathy
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::2af2cce5689738d7807fdd14e2abd45bTest
https://doi.org/10.1002/mus.22024Test -
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المؤلفون: A. Sevy, Pierre-Jean Weiller, Audrey Benyamine, P. Belenotti, Nicoleta Ene, J. Serratrice, P. Krolak-Salmon, H. Bensahla, Jean Pouget, S. Attarian
المصدر: La Revue de Médecine Interne. 31:784-787
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, business.industry, Eye disease, Gastroenterology, Neurological disorder, medicine.disease, Communication disorder, Internal Medicine, Sensory neuropathy, medicine, Language disorder, Xerophthalmia, business, Motor neuropathy
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::52964d25bf3339326f189672d540831eTest
https://doi.org/10.1016/j.revmed.2010.08.014Test -
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المؤلفون: S. Attarian, Jean Pouget, Jérôme Franques, J P Azulay
المصدر: La Revue de Médecine Interne. 31:411-416
مصطلحات موضوعية: medicine.medical_specialty, Nerve biopsy, medicine.diagnostic_test, business.industry, Gastroenterology, Axonal loss, Polyradiculoneuropathy, medicine.disease, Dermatology, law.invention, Immune system, Pharmacotherapy, Randomized controlled trial, law, Biopsy, Internal Medicine, medicine, Rituximab, business, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::5762795ce9e1c9b109f9a564eb160861Test
https://doi.org/10.1016/j.revmed.2009.08.006Test