نتائج البحث - "Jean Pouget"

11

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

12

IqYmune® is an effective maintenance treatment for multifocal motor neuropathy: A randomised, double‐blind, multi‐center cross‐over non‐inferiority study vs Kiovig®—The LIME Study

المؤلفون: Ingemar S. J. Merkies, Dario Cocito, Rabye Ouaja, Haider Katifi, Jean Marc Léger, Jean-Marie Grouin, Yusuf A. Rajabally, Eduardo Nobile-Orazio, Ousmane Alfa Cissé, Jean Pouget, Teresa Sevilla

المصدر: Journal of the Peripheral Nervous System

مصطلحات موضوعية: Research Report, IVIg, Adult, Male, medicine.medical_specialty, multifocal motor neuropathy, Equivalence Trials as Topic, law.invention, 03 medical and health sciences, 0302 clinical medicine, Randomized controlled trial, Double-Blind Method, law, Internal medicine, Outcome Assessment, Health Care, medicine, Clinical endpoint, Humans, Immunologic Factors, Motor Neuron Disease, Aged, Cross-Over Studies, Maintenance dose, business.industry, General Neuroscience, Immunoglobulins, Intravenous, Research Reports, clinical trial, Middle Aged, Haemolysis, medicine.disease, Crossover study, Confidence interval, Tolerability, 030220 oncology & carcinogenesis, Female, Neurology (clinical), business, immunoglobulin, 030217 neurology & neurosurgery, Multifocal motor neuropathy

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::052a372f4cd6bd99302ec8373e3ff7deTest
http://europepmc.org/articles/PMC6590491Test

13

Placebo effect in chronic inflammatory demyelinating polyneuropathy: The PATH study and a systematic review

المؤلفون: Martin Stangel, K. George, Inna Rubanovits, A. Kutschenko, Michael Schroeter, Juliane Klehmet, Tsugio Akutsu, Robert D. Henderson, S. Mumfrey, Takuya Ohkubo, Helmar C. Lehmann, Mari Auranen, Paul Bassett, Giuseppe Lauria, A. Di Muzio, Kenichi Kaida, David Yarnitsky, S. Larue, R. Gold, Fabian Klostermann, Karissa L. Gable, Ivo N. van Schaik, Gens Sobue, A Schenone, U. Sorro, Jeffrey A. Allen, S. Attarian, A. Algom, U. Chyrchel-Paszkiewicz, J. Haas, Jens Ejbye Schmidt, I. N. van Schaik, Jasper M. Morrow, Ingemar S. J. Merkies, R. Carne, C. Marquez Infante, Michael P. Lunn, Khema Sharma, E. Chi Ho Lai, Billie L. Durn, Satoshi Kuwabara, D. Kramer, David Gosal, P. MacDonald, Janneke G. J. Hoeijmakers, Giovanni Antonini, Senda Ajroud-Driss, S. Muley, Takanori Yokota, Tim Hagenacker, Eroboghene E. Ubogu, M. Kawai, Maria Salvado, Jean Pouget, Mika Saarela, John T. Kissel, Alexander Shtilbans, K. Kanai, B. Murinson, Olaf Hoffmann, Claudia Sommer, Sandro Sorbi, P. Berlit, Norman Latov, Nora A. Visser, C. G. Faber, A. Wielanek, J. Demeestere, Ericka Simpson, Ginna Gonzalez, Konrad Rejdak, C. Casanovas Pons, Alessandro Testori, Orell Mielke, T. Kalous, Alexa Cleasby, Vera Bril, J. Sussova, D. Mueller, Katrin Gross-Paju, Dale J. Lange, Nicolette C. Notermans, Florian Then Bergh, R. Talab, Kazumasa Yokoyama, M. Zibetti, C. Trebst, Marina Grandis, Miriam Freimer, E. Delmon, David R. Cornblath, Masahiro Mori, H. Onoue, Richard J. Barohn, D. Liebetanz, M. Chatzopoulos, J. Oechtering, F. Ciccocioppo, T. Rao, P. Van Damme, A. Sabet, Takashi Kanda, J. Zschuentzsch, Hans-Peter Hartung, S. Benitez, D. Aufauvre, M. Bednar, M. Tomiyama, G. Le Masson, C. D'Amour, Richard A. Lewis, Anne D. Sperfeld, I. Melamed, Lisa D. Hobson-Webb, Stefan Blum, Dario Cocito, K. Nishiyama, Daniele Cazzato, F. Bethke, Toomas Toomsoo, Said R. Beydoun, Leslie Roberts, David Walk, Josep Gamez, Masahiro Iijima, A. Jaspert-Grehl, Israel V. Drory, P. Kunc, John-Philip Lawo, C. Goerlitz, H. Johl, R. Yoon, Daniela M. Menichella, T. Lavin, Stefania Morino, K. Ohyama, Masayuki Baba, M. Antonia, Shafeeq Ladha, Claude Desnuelle, Pierre Clavelou, Andreas Meisel, Martin Vališ, Filip Eftimov, P. Baum, Sabrina Matà, Russell L. Chin, Mazen M. Dimachkie

المساهمون: ANS - Neuroinfection & -inflammation, Neurology, AII - Inflammatory diseases

المصدر: Journal of the peripheral nervous system, 25(3), 230-237. Wiley-Blackwell
Journal of the Peripheral Nervous System

مصطلحات موضوعية: Research design, CIDP, immunoglobulin, non-relapse, placebo, relapse, Humans, Polyradiculoneuropathy, Chronic Inflammatory Demyelinating, Immunologic Factors, Outcome Assessment, Health Care, Placebo Effect, Randomized Controlled Trials as Topic, Research Design, Research Report, medicine.medical_specialty, Outcome Assessment, SUBCUTANEOUS IMMUNOGLOBULIN, Polyradiculoneuropathy, non‐relapse, Severe disease, PLASMA-EXCHANGE, Chronic inflammatory demyelinating polyneuropathy, Placebo, THERAPY, Immunoglobulin G, 03 medical and health sciences, DOUBLE-BLIND, 0302 clinical medicine, Internal medicine, Clinical endpoint, Medicine, Chronic Inflammatory Demyelinating, biology, business.industry, General Neuroscience, INTRAVENOUS IMMUNOGLOBULIN TREATMENT, Research Reports, medicine.disease, Health Care, INTERFERON BETA-1A, 030220 oncology & carcinogenesis, biology.protein, TRIAL, Neurology (clinical), business, Polyneuropathy, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43063fcd25f2793a6b2337f883a18156Test
https://pure.amc.nl/en/publications/placebo-effect-in-chronic-inflammatory-demyelinating-polyneuropathy-the-path-study-and-a-systematic-reviewTest(82ad0dca-304a-4f5e-9f95-296f8e71a555).html

14

Causal Inference with Bipartite Designs

المؤلفون: Evgeni Drynkin, Jean Pouget-Abadie, Vahab Mirrokni, Minzhengxiong Zhang, Edoardo M. Airoldi, Nick Doudchenko

المصدر: SSRN Electronic Journal.

مصطلحات موضوعية: Methodology (stat.ME), FOS: Computer and information sciences, Set (abstract data type), Theoretical computer science, Computer science, Causal inference, Propensity score matching, Bipartite graph, Leverage (statistics), Interference (wave propagation), Object (computer science), Statistics - Methodology, Causal model

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7bf9e94861f3bd116ec2a21cf89dfc10Test
https://doi.org/10.2139/ssrn.3757188Test

15

Novel CAPN3 variant associated with an autosomal dominant calpainopathy

المؤلفون: Pascal Cintas, Emmanuelle Campana-Salort, Alexandra Salvi, A. Maues de Paula, Jérémie Mortreux, T. Stojkovic, Céline Tard, Marc Bartoli, F. Leturcq, S. Attarian, Jean Pouget, Svetlana Gorokhova, Nathalie Bonello-Palot, Mathieu Cerino, Nicolas Lévy, Mireille Cossée, Martin Krahn, R. Juntas Morales, Dimitri Renard

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), Hôpital de la Timone [CHU - APHM] (TIMONE), Département de génétique médicale [Hôpital de la Timone - APHM], 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), Hôpital Purpan [Toulouse], CHU Toulouse [Toulouse], Centre Hospitalier Universitaire de Nîmes (CHU Nîmes), CHU Montpellier, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Centre Hospitalier Universitaire de Lille (CHU de Lille), Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Laboratoire de génétique des maladies rares. Pathologie moleculaire, etudes fonctionnelles et banque de données génétiques (LGMR), Université Montpellier 1 (UM1)-IFR3, Université Montpellier 1 (UM1)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), ANR-10-INBS-0009,France-Génomique,Organisation et montée en puissance d'une Infrastructure Nationale de Génomique(2010), Bartoli, Marc, Organisation et montée en puissance d'une Infrastructure Nationale de Génomique - - France-Génomique2010 - ANR-10-INBS-0009 - INBS - VALID, 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 Hospitalier Universitaire de Toulouse (CHU Toulouse), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)

المصدر: Neuropathology and Applied Neurobiology
Neuropathology and Applied Neurobiology, Wiley, 2020, ⟨10.1111/nan.12624⟩
Neuropathology and Applied Neurobiology, 2020, ⟨10.1111/nan.12624⟩

مصطلحات موضوعية: 0301 basic medicine, Male, [SDV]Life Sciences [q-bio], Muscle Proteins, 0302 clinical medicine, CAPN3, Missense mutation, dominant, Genes, Dominant, Genetics, Aged, 80 and over, Calpain, Inheritance (genetic algorithm), Neuromuscular Diseases, Middle Aged, Phenotype, calpainopathy, 3. Good health, Pedigree, [SDV] Life Sciences [q-bio], Neurology, NGS, Female, France, medicine.symptom, myopathy, Adult, Histology, Adolescent, Genetic counseling, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Biology, Pathology and Forensic Medicine, 03 medical and health sciences, Young Adult, Physiology (medical), medicine, Humans, Myopathy, Gene, Aged, Chromosome Aberrations, Genetic Variation, medicine.disease, CALPAINOPATHY, 030104 developmental biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Mutation, Neurology (clinical), 030217 neurology & neurosurgery, Limb-girdle muscular dystrophy

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5cdf736e275ca2034f875f0970d190ddTest
https://pubmed.ncbi.nlm.nih.gov/32342993Test

16

Peripheral nerve involvement in Fabry's disease: Which investigations? A case series and review of the literature

المؤلفون: P. Sahuc, L. Swiader, Jean Pouget, B. Dussol, S. Attarian, Jérôme Franques, R. Froissart, C. Stavris, Guillaume Penaranda, Laurent Chiche

المصدر: Revue Neurologique. 173:650-657

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::389fde26483d79cf346d5f90b4afe889Test
https://doi.org/10.1016/j.neurol.2017.05.007Test

17

Vers une harmonisation du diagnostic par séquençage haut débit des maladies neuromusculaires

المؤلفون: Emmanuelle Salort-Campana, Claude Jardel, J. Andoni Urtizberea, Mireille Cossée, Vincent Procaccio, Mathieu Cerino, Jean Pouget, Aurélien Perrin, Philippe Latour, Gisèle Bonne, Martin Krahn

المصدر: médecine/sciences. 34:20-22

مصطلحات موضوعية: 0301 basic medicine, 03 medical and health sciences, medicine.medical_specialty, business.industry, Molecular genetics, medicine, MEDLINE, Harmonization, General Medicine, 030105 genetics & heredity, business, Bioinformatics, General Biochemistry, Genetics and Molecular Biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::15e6cbaa75c91efaff2ff39607ca2ab2Test
https://doi.org/10.1051/medsci/201834s206Test

18

دورية أكاديمية

MUSK, a new target for mutations causing congenital myasthenic syndrome

المؤلفون: Brice Faraut, Aymeric Ravel-chapuis, Pascale Richard, Karen Gaudon, Ra Prioleau, Ruth Herbst, Evelyne Goillot, Christine Ioos, Shahram Attarian, Jean-paul Leroy, Emmanuel Fournier, Claire Legay, Laurent Schaeffer, Jeanine Koenig, Michel Fardeau, Bruno Eymard, Jean Pouget

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://hmg.oxfordjournals.org/content/13/24/3229.full.pdfTest.

وصف الملف: application/pdf

العلاقة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.601.6595Test; http://hmg.oxfordjournals.org/content/13/24/3229.full.pdfTest

الإتاحة: http://hmg.oxfordjournals.org/content/13/24/3229.full.pdfTest

View record in BASE

19

New strategy for improving the diagnostic sensitivity of repetitive nerve stimulation in myasthenia gravis

المؤلفون: A. Sevy, Shahram Attarian, Julien Gallard, Emilien Delmont, Hanna Bou Ali, Emmanuelle Salort-Campana, Jean Pouget, Annie Verschueren, Jérôme Franques, Aude Marie Grapperon

المساهمون: Reference Center for Neuromuscular Disorders and ALS, Timone University Hospital, Marseille, 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), Centre de résonance magnétique biologique et médicale (CRMBM), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Centre National de la Recherche Scientifique (CNRS), Centre d'Exploration Métabolique par Résonance Magnétique [Hôpital de la Timone - APHM] (CEMEREM), Hôpital de la Timone [CHU - APHM] (TIMONE)-Centre de résonance magnétique biologique et médicale (CRMBM), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Centre National de la Recherche Scientifique (CNRS)-Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Centre National de la Recherche Scientifique (CNRS), FILNEMUS, Filière nationale des maladies neuromusculaires, Marseille

المصدر: Muscle & nerve. Supplement.
Muscle & nerve. Supplement., 2017, 55 (4), pp.532-538. ⟨10.1002/mus.25374⟩

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Adolescent, Physiology, Sensitivity and Specificity, Severity of Illness Index, Fatty Acids, Monounsaturated, Young Adult, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Physiology (medical), Myasthenia Gravis, [SDV.MHEP.PHY]Life Sciences [q-bio]/Human health and pathology/Tissues and Organs [q-bio.TO], medicine, Humans, Receptors, Cholinergic, In patient, Sensitivity (control systems), Repetitive nerve stimulation, Muscle, Skeletal, ComputingMilieux_MISCELLANEOUS, Aged, Autoantibodies, Retrospective Studies, Aged, 80 and over, Neurologic Examination, Electromyography, business.industry, Middle Aged, medicine.disease, Electric Stimulation, Myasthenia gravis, Facial muscles, 030104 developmental biology, medicine.anatomical_structure, Anesthesia, Female, Neurology (clinical), business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5274bc7c82616cf6246fb9b4bb82509eTest
https://doi.org/10.1002/mus.25374Test

20

Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy

المؤلفون: Anna Vihola, Juan J. Vílchez, Peter P. Rainer, Montse Olivé, Jan De Bleecker, Bjarne Udd, Per Harald Jonson, Peter Hackman, Michaela Auer-Grumbach, Jean Pouget, Marco Savarese, Giorgio Tasca, Sini Penttilä, Emmanuelle Salort-Campana, Nuria Muelas, Johanna Palmio, Anni Evilä, Sara Lehtinen

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

المصدر: Molecular Neurobiology. 54:7212-7223

مصطلحات موضوعية: Male, 0301 basic medicine, TTN, Titin, Nonsense mutation, Distal myopathy, Neuroscience (miscellaneous), PHENOTYPES, CALPAIN, Biology, Compound heterozygosity, Titinopathy, Frameshift mutation, MYOPATHY, Young Adult, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Atrophy, LARGE FAMILY, medicine, Humans, C-TERMINAL TITIN, Connectin, Muscular dystrophy, Myopathy, Genetics, TIBIAL MUSCULAR-DYSTROPHY, High-Throughput Nucleotide Sequencing, Sequence Analysis, DNA, M-BAND, medicine.disease, GENE, Pedigree, 3. Good health, Distal Myopathies, 030104 developmental biology, Neurology, Gene Targeting, Mutation, biology.protein, Female, 3111 Biomedicine, medicine.symptom, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87037c90b74561c9464f363c1a9a776fTest
https://doi.org/10.1007/s12035-016-0242-3Test

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