نتائج البحث - "Jean Pouget"

1

Safety, tolerability, pharmacokinetics, pharmacodynamics, and exploratory efficacy of the novel enzyme replacement therapy avalglucosidase alfa (neoGAA) in treatment-naive and alglucosidase alfa-treated patients with late-onset Pompe disease: A phase 1, open-label, multicenter, multinational, ascending dose study

المساهمون: Pediatrics

المصدر: Neuromuscular Disorders, 29(3), 167-186. Elsevier Ltd.
NEO1 Investigator Group 2019, ' Safety, tolerability, pharmacokinetics, pharmacodynamics, and exploratory efficacy of the novel enzyme replacement therapy avalglucosidase alfa (neoGAA) in treatment-naïve and alglucosidase alfa-treated patients with late-onset Pompe disease : A phase 1, open-label, multicenter, multinational, ascending dose study ', Neuromuscular Disorders, vol. 29, no. 3, pp. 167-186 . https://doi.org/10.1016/j.nmd.2018.12.004Test

مصطلحات موضوعية: Avalglucosidase alfa (neoGAA), 0301 basic medicine, Male, GLUCOSE TETRASACCHARIDE, Lysosomal acid alpha-glucosidase (GAA) deficiency, CHILDREN, Pulmonary function testing, MOTOR FUNCTION, 0302 clinical medicine, Medicine, Genetics (clinical), Late-onset Pompe disease (LOPD), Glycogen Storage Disease Type II, Alglucosidase alfa, MOUSE MODEL, Enzyme replacement therapy, Middle Aged, Treatment Outcome, Neurology, Tolerability, SKELETAL-MUSCLE, Female, Life Sciences & Biomedicine, MUSCLE TRAINING RMT, Glycogen, 6-MINUTE WALK, medicine.drug, Adult, medicine.medical_specialty, Clinical Neurology, GLYCOGEN, 03 medical and health sciences, FEV1/FVC ratio, Pharmacokinetics, Internal medicine, Humans, Enzyme Replacement Therapy, Adverse effect, Science & Technology, business.industry, Neurosciences, alpha-Glucosidases, ADULTS, Glycogen storage disease type II, SEVERITY, 030104 developmental biology, Pharmacodynamics, Pediatrics, Perinatology and Child Health, Neurosciences & Neurology, Neurology (clinical), Glucan 1,4-alpha-Glucosidase, business, 030217 neurology & neurosurgery

وصف الملف: Print-Electronic; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf2f385d766335b6e27ce068b0b3a3b8Test
https://doi.org/10.1016/j.nmd.2018.12.004Test

2

Genetic characterization of a French cohort of GNE -mutation negative inclusion body myopathy patients using exome sequencing

المؤلفون: T. Stojkovic, Jean Pouget, Jean-François Deleuze, P. Laforêt, Martin Krahn, Nicolas Lévy, R. Ben Yaou, Anthony Behin, Svetlana Gorokhova, Emmanuelle Salort-Campana, Mathieu Cerino, Bruno Eymard, Anne Boland, S. Attarian, Gisèle Bonne, Marc Bartoli

المساهمون: Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), 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), Hôpital Raymond Poincaré [AP-HP], 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), Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Hôpital de la Timone [CHU - APHM] (TIMONE), Institut de Biologie François JACOB (JACOB), Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Centre National de Génotypage (CNG), Commissariat à l'énergie atomique et aux énergies alternatives (CEA), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), 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)

المصدر: 22nd International Annual Congress of the World-Muscle-Society (WMS)
22nd International Annual Congress of the World-Muscle-Society (WMS), Oct 2017, Saint Malo, France. 27, pp.S149, 2017, ⟨10.1016/j.nmd.2017.06.205⟩

مصطلحات موضوعية: Genetics, [SDV.GEN]Life Sciences [q-bio]/Genetics, business.industry, Bioinformatics, Myopathie, Inclusion body myopathy, GNE, Neurology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Pediatrics, Perinatology and Child Health, Cohort, Mutation (genetic algorithm), Medicine, Neurology (clinical), business, Genetics (clinical), Exome sequencing

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47dacb604687f0598d6be77292000aadTest
https://hal.science/hal-03973434Test

3

Efficacy and safety of patisiran for familial amyloidotic polyneuropathy: a phase II multi-dose study

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