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:RCAAP

مصطلحات 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

المؤلفون: Françoise Bouhour, Sabrina Sacconi, Christine Tranchant, Jean Pouget, Nicolas Lévy, Elisabeth Ollagnon, Emmanuelle Salort-Campana, Shahram Attarian, Guilhem Solé, M. Arne-Bes, Thierry Kuntzer, Marc Bartoli, Karine Nguyen, Julien Niederhauser, Elisabeth Jouve, Rafaëlle Bernard, Estelle Charles, Claude Desnuelle, Frédérique Magdinier, Aleksandra Nadaj-Pakleza, Christophe Vial, Xavier Ferrer, Andoni Echaniz-Laguna

المساهمون: Génétique Médicale et Génomique Fonctionnelle (GMGF), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre de référence des maladies neuromusculaires et de la SLA, Hôpital de la Timone [CHU - APHM] (TIMONE), Département de génétique médicale [Hôpital de la Timone - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de référence des maladies rares neuromusculaires Aquitaine-Grand Sud Ouest, CHU Bordeaux [Bordeaux], Centre de reference des maladies neuromusculaires Nantes-Angers, CHU d'Angers et Nantes, Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM), Centre Hospitalier Universitaire Vaudois [Lausanne] (CHUV), Centre investigation clinique - Unité de pharmacologie clinique et d'évaluations thérapeutiques (CIC-UPCET), Assistance Publique - Hôpitaux de Marseille (APHM), Hôpital de la Croix-Rousse [CHU - HCL], Hospices Civils de Lyon (HCL), Hôpital neurologique, Institut de Biologie Valrose (IBV), Université Nice Sophia Antipolis (1965 - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Côte d'Azur (UCA), Hôpital de Hautepierre [Strasbourg], Pôle Tête-Cou-CETD, Les Hôpitaux Universitaires de Strasbourg (HUS), Neurologie et Explorations Fonctionnelles du Système Nerveux [Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Bartoli, Marc, Institut National de la Santé et de la Recherche Médicale (INSERM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Assistance Publique - Hôpitaux de Marseille (APHM)-Aix Marseille Université (AMU), Université Nice Sophia Antipolis (... - 2019) (UNS), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-CHU Toulouse [Toulouse]-Hôpital de Rangueil, CHU Toulouse [Toulouse]

المصدر: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, 2015, 10, pp.2. ⟨10.1186/s13023-014-0218-1⟩
Orphanet Journal of Rare Diseases, BioMed Central, 2015, 10, pp.2. ⟨10.1186/s13023-014-0218-1⟩
Orphanet Journal of Rare Diseases, vol. 10, no. 1, pp. 2

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, Cross-sectional study, Genetic counseling, Penetrance, Biology, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Epigenesis, Genetic, Young Adult, Facioscapulohumeral muscular dystrophy, Internal medicine, medicine, [SDV.BBM] Life Sciences [q-bio]/Biochemistry, Molecular Biology, Humans, Genetics(clinical), Pharmacology (medical), Medical history, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, Allele, Genetics (clinical), Alleles, Genetic testing, Aged, Medicine(all), Genetics, D4Z4, medicine.diagnostic_test, Research, Microfilament Proteins, Nuclear Proteins, RNA-Binding Proteins, General Medicine, Middle Aged, medicine.disease, Muscular Dystrophy, Facioscapulohumeral, 3. Good health, FSHD1, Cross-Sectional Studies, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Female, Age of onset

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::05ca120278fa6c0b335375e5637bcfcaTest
https://hal.science/hal-01610016Test

المؤلفون: Jonas Mandel, Benoît Funalot, Laurent Magy, Odile Dubourg, Arnaud Lacour, Jean-Michel Vallat, Marie-Noëlle Lefebvre, Lamia Boudiaf, Marguerite Preudhomme, Mahmoud Al-Moussawi, Shahram Attarian, Daniel Cohen, Vincent Tiffreau, Pierre-Marie Gonnaud, Mickaël Guedj, Jérôme Franques, Rodolphe Hajj, Philippe Lehert, Jean Pouget, Catherine Scart-Grès, Armelle Magot, Yann Péréon, Ilya Chumakov, Walter Gilbert, Aude Milet, Laura Bossi, Tanya Stojkovic, Serguei Nabirotchkin, Karima Ghorab, Laurène Leclair-Visonneau, Viviane Bertrand, Joëlle Micallef

المساهمون: UCL - SSH/ILSM - Louvain School of Management Research Institute

المصدر: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol. 9, no.1, p. 199 (2014)

مصطلحات موضوعية: Adult, Male, Baclofen, Charcot-Marie-Tooth, medicine.medical_specialty, Combination therapy, Pharmacology, Placebo, Phase 2, law.invention, Double-Blind Method, Randomized controlled trial, Charcot-Marie-Tooth Disease, law, Internal medicine, medicine, Clinical endpoint, Humans, Sorbitol, Genetics(clinical), Pharmacology (medical), Adverse effect, Wasting, Genetics (clinical), Medicine(all), business.industry, Research, General Medicine, Middle Aged, Naltrexone, Clinical trial, CMT1A, Tolerability, Drug Therapy, Combination, Female, Erratum, medicine.symptom, business, Repurposing

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d82998f2043b10469b1df30f30ed1b1Test
https://doi.org/10.1186/s13023-014-0199-0Test

المؤلفون: Shahram Attarian, Jean-Michel Vallat, Laurent Magy, Benoît Funalot, Pierre-Marie Gonnaud, Arnaud Lacour, Yann Péréon, Odile Dubourg, Jean Pouget, Joëlle Micallef, Jérôme Franques, Marie-Noëlle Lefebvre, Karima Ghorab, Mahmoud Al-Moussawi, Vincent Tiffreau, Marguerite Preudhomme, Armelle Magot, Laurène Leclair-Visonneau, Tanya Stojkovic, Laura Bossi, Philippe Lehert, Walter Gilbert, Viviane Bertrand, Jonas Mandel, Aude Milet, Rodolphe Hajj, Lamia Boudiaf, Catherine Scart-Grès, Serguei Nabirotchkin, Mickael Guedj, Ilya Chumakov, Daniel Cohen

المصدر: Orphanet Journal of Rare Diseases. 11(1)

مصطلحات موضوعية: Medicine(all), Genetics(clinical), Pharmacology (medical), General Medicine, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4079856e69d56bddaf0ae6a5c004e3f5Test