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: 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