المؤلفون: Brigitte Estournet-Mathiaud

المصدر: La personne polyhandicapée

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::30d91b15864a38b52e7acee38485bc62Test
https://doi.org/10.3917/dunod.colle.2021.01.0881Test

المؤلفون: J. Andoni Urtizberea, María L. Cuadrado, Isabelle Desguerre, Emmanuelle Lagrue, Michel Fardeau, Carsten G. Bönnemann, Ulrike Reuner, Haluk Topaloglu, Beate Schlotter-Weigel, Susana Quijano-Roy, Maja von der Hagen, Rocio N. Villar-Quiles, Sandra Donkervoort, Denys Chaigne, Nathalie Goemans, Michèle Mayer, Norma B. Romero, Ekkehard Wilichowski, Jaume Colomer, Brigitte Estournet, Corinne Metay, Ulrike Schara, M Stoetter, Pascale Richard, Edoardo Malfatti, Angela M. Kaindl, Ana Ferreiro, David Orlikowski, Anneke van der Kooi, Marianne de Visser, Luciano Merlini, E. Bertini, Jürg Lütschg, Bruno Eymard, Volker Straub, C. Castiglioni, Mustafa A. Salih, Victoria Gonzalez

المساهمون: Neurology, ANS - Neuroinfection & -inflammation

المصدر: Neurology, 95(11), e1512-e1527. Lippincott Williams and Wilkins

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, medicine.diagnostic_test, business.industry, Medizin, Retrospective cohort study, Scoliosis, medicine.disease, 3. Good health, Ophthalmoparesis, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Respiratory failure, Internal medicine, Biopsy, Medicine, Neurology (clinical), Young adult, medicine.symptom, business, Myopathy, 030217 neurology & neurosurgery, Rare disease

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b6630144f5805a5d3daa9c0a2ffd7dfbTest
https://www.ncbi.nlm.nih.gov/pubmed/32796131Test

المؤلفون: Rocio N, Villar-Quiles, Maja, von der Hagen, Corinne, Métay, Victoria, Gonzalez, Sandra, Donkervoort, Enrico, Bertini, Claudia, Castiglioni, Denys, Chaigne, Jaume, Colomer, Maria Luz, Cuadrado, Marianne, de Visser, Isabelle, Desguerre, Bruno, Eymard, Nathalie, Goemans, Angela, Kaindl, Emmanuelle, Lagrue, Jürg, Lütschg, Edoardo, Malfatti, Michèle, Mayer, Luciano, Merlini, David, Orlikowski, Ulrike, Reuner, Mustafa A, Salih, Beate, Schlotter-Weigel, Mechthild, Stoetter, Volker, Straub, Haluk, Topaloglu, J Andoni, Urtizberea, Anneke, van der Kooi, Ekkehard, Wilichowski, Norma B, Romero, Michel, Fardeau, Carsten G, Bönnemann, Brigitte, Estournet, Pascale, Richard, Susana, Quijano-Roy, Ulrike, Schara, Ana, Ferreiro

المصدر: Neurology

مصطلحات موضوعية: Adult, Male, Adolescent, Genotype, Muscle Proteins, Middle Aged, Article, Young Adult, Muscular Diseases, Child, Preschool, Humans, Female, Child, Selenoproteins, Follow-Up Studies, Retrospective Studies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::e88560683abbf952be2edde6fc9cd071Test
https://pubmed.ncbi.nlm.nih.gov/32796131Test

المؤلفون: Haluk Topaloglu, Rocio N. Villar-Quiles, Ulrike Schara, Susana Quijano-Roy, Luciano Merlini, Pascale Richard, Nathalie Goemans, Sandra Donkervoort, Ana Ferreiro, Anna Fidziańska, V. Gonzalez, David Orlikowski, Michel Fardeau, Carsten G. Bönnemann, M. Mayer, Corinne Metay, Brigitte Estournet, M. de Visser, M. von der Hagen, Norma B. Romero

مصطلحات موضوعية: medicine.medical_specialty, business.industry, Medizin, Natural history, Clinical trial, Neurology, Internal medicine, Pediatrics, Perinatology and Child Health, medicine, Neurology (clinical), medicine.symptom, Myopathy, business, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b3584f0d992c977c126dc93013a64f98Test

المؤلفون: Susana Quijano-Roy, Viviane Azzi, Pascale Richard, Dominique Mompoint, Gisèle Bonne, Jean Bergounioux, Brigitte Estournet, Robert Yves-Carlier, Ivana Dabaj, Karolina Hankiewicz, David Gómez-Andrés, Christine Ioos, Rabah Ben Yaou, Norma B. Romero

المصدر: Muscle & Nerve. 54:192-202

مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, Physiology, Whole body imaging, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Atrophy, Physiology (medical), medicine, Myopathy, integumentary system, biology, medicine.diagnostic_test, business.industry, Dystrophy, Magnetic resonance imaging, Anatomy, musculoskeletal system, biology.organism_classification, medicine.disease, Medius, 030104 developmental biology, Flexor Digitorum Longus, Neurology (clinical), medicine.symptom, Abnormality, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::6397efb72801c82ca6cf354f0e7495c1Test
https://doi.org/10.1002/mus.25018Test

المؤلفون: Carole Vuillerot, Viviane Azzi, Susana Quijano-Roy, Enrico Bertini, Louis Viollet, Michela Catteruccia, Brigitte Estournet, Isabelle Vaugier, Danielle Leclair

المصدر: Journal of Neuromuscular Diseases

مصطلحات موضوعية: Research Report, scoliosis, medicine.medical_specialty, Cobb angle, business.industry, medicine.medical_treatment, Retrospective cohort study, Scoliosis, Spinal muscular atrophy, SMA, medicine.disease, Orthotic device, Surgery, Neurology, Spinal fusion, spinal fusion, Orthopedic surgery, Physical therapy, medicine, Neurology (clinical), Prospective cohort study, business, orthotic device

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::25b26d623052601b22bb36b91a7dd915Test
https://doi.org/10.3233/jnd-150084Test

المؤلفون: David Gómez-Andrés, Dominique Mompoint, Javier Linzoain, Pascale Richard, Dominique P. Germain, Pascale Guicheney, Brigitte Estournet, Sebastian Bulacio, Daniela Avila-Smirnow, Robert Carlier, Susana Quijano-Roy, L. Lazaro, Ana Ferreiro, Christine Barnerias, Karolina Hankiewicz

المصدر: Muscle & Nerve. 52:728-735

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Pelvic girdle, medicine.diagnostic_test, Physiology, Magnetic resonance imaging, Anatomy, Biology, medicine.disease, Trunk, Cellular and Molecular Neuroscience, Atrophy, Homogeneous, Physiology (medical), medicine, Neurology (clinical), medicine.symptom, Sternocleidomastoid muscle, Myopathy, Wasting

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::22a385b9528a5e6b18ec0c8542e06e93Test
https://doi.org/10.1002/mus.24634Test

المؤلفون: Brigitte Estournet-Mathiaud

المصدر: La personne polyhandicapée

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::93af95b5c9ffa0308eaf556bbd399d9aTest
https://doi.org/10.3917/dunod.ponso.2017.01.0785Test

المؤلفون: Anamaria Bolocan, Dominique P. Germain, Susana Quijano-Roy, Michel Fardeau, Teresa Gidaro, Nathalie Blin, Brigitte Estournet, Anne-Gaëlle Le Moing, Robert Carlier, Laurent Servais, Andreea Mihaela Seferian, Valérie Allamand, Hélène Cavé, Pascale Richard, C. Gartioux, Thomas Voit, Norma B. Romero, Clarisse Baumann

المصدر: Neuromuscular Disorders. 24:993-998

مصطلحات موضوعية: Ullrich congenital muscular dystrophy, DNA Mutational Analysis, Muscular Dystrophies, Amino Acyl-tRNA Synthetases, medicine, Humans, Missense mutation, HRAS, Muscle Spindles, Kyphoscoliosis, Genetics (clinical), Muscle biopsy, medicine.diagnostic_test, business.industry, Skeletal muscle, Anatomy, medicine.disease, Magnetic Resonance Imaging, medicine.anatomical_structure, Neurology, Child, Preschool, Mutation, Pediatrics, Perinatology and Child Health, Congenital muscular dystrophy, Female, Neurology (clinical), Differential diagnosis, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::050e8c0932c63f89b34947862548b4a7Test
https://doi.org/10.1016/j.nmd.2014.06.437Test

المؤلفون: Janbernd Kirschner, S. Fontaine-Carbonnel, Giuseppe Vita, Enrico Bertini, François Rivier, Nathalie Goemans, W. Ludo van der Pol, Mariacristina Scoto, Brigitte Chabrol, Carole Vuillerot, Helen Roper, Alessandra Govoni, Maggie C. Walter, Jeppe Buchbjerg, Anna Lusakowska, Ulrike Schara, Eugenio Mercuri, Jean Louis Abitbol, Thomas Blaettler, Nicolas Deconinck, Michela Guglieri, Eduardo Vianna, Claudio Bruno, Jean Marie Cuisset, Francesco Muntoni, Carol Reid, Eric Dessaud, Hanns Lochmüller, Giacomo P. Comi, Brigitte Estournet, Patricia Sanwald Ducray, Carole André, Francesca Magri, Bruno Scherrer, Leonard H. van den Berg, Paulo Fontoura, Ksenija Gorni, Wolfgang Müller-Felber, Michèle Mayer

المساهمون: Schara, Ulrike (Beitragende*r)

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, Population, Medizin, Phases of clinical research, Spinal Muscular Atrophies of Childhood, Placebo, law.invention, 03 medical and health sciences, chemistry.chemical_compound, Young Adult, Outcome Assessment (Health Care), 0302 clinical medicine, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Randomized controlled trial, Double-Blind Method, law, Outcome Assessment, Health Care, Clinical endpoint, medicine, Humans, Mobility Limitation, education, Adverse effect, Child, Preschool, Cholestenones, education.field_of_study, business.industry, Child, Preschool, Female, Neuroprotective Agents, Neurology (clinical), Clinical trial, 030104 developmental biology, chemistry, N/A, Olesoxime, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9bad810ec4902101d89d04fe23c17c79Test
http://hdl.handle.net/11570/3114831Test