المؤلفون: Georg M. Stettner, Oswald Hasselmann, Anne Tscherter, Elea Galiart, David Jacquier, Andrea Klein

المصدر: BMC Neurology, Vol 23, Iss 1, Pp 1-10 (2023)

مصطلحات موضوعية: Spinal muscular atrophy, Onasemnogene Abeparvovec, Zolgensma, Gene therapy, Switzerland, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2377

URL الوصول: https://doaj.org/article/815bbdcfc98a4258a809018b6a04a5f6

المؤلفون: Benedikt M. Huber, Tido von Schoen-Angerer, Oswald Hasselmann, Johannes Wildhaber, Ursula Wolf

المصدر: Swiss Medical Weekly, Vol 149, Iss 2324 (2019)

مصطلحات موضوعية: complementary medicine, integrative medicine, paediatrics, survey, Switzerland, Medicine

وصف الملف: electronic resource

Relation: https://www.smw.ch/index.php/smw/article/view/2632; https://doaj.org/toc/1424-3997

URL الوصول: https://doaj.org/article/2859eb055b8143328990a3927716f143

المؤلفون: Anne Tscherter, Christina T. Rüsch, Dominique Baumann, Cornelia Enzmann, Oswald Hasselmann, David Jacquier, Hans H. Jung, Michelle E. Kruijshaar, Claudia E. Kuehni, Christoph Neuwirth, Georg M. Stettner, Andrea Klein, Nadine Lötscher, Gian P. Ramelli, Paolo Ripellino, Oliver Scheidegger, David-Alexander Wille

المساهمون: University of Zurich, Klein, Andrea, Pediatrics

المصدر: Tscherter, Anne; Rüsch, Christina T; Baumann, Dominique; Enzmann, Cornelia; Hasselmann, Oswald; Jacquier, David; Jung, Hans H; Kruijshaar, Michelle E; Kuehni, Claudia E; Neuwirth, Christoph; Stettner, Georg M; Klein, Andrea (2022). Evaluation of real-life outcome data of patients with spinal muscular atrophy treated with nusinersen in Switzerland. Neuromuscular disorders, 32(5), pp. 399-409. Elsevier 10.1016/j.nmd.2022.02.001 <http://dx.doi.org/10.1016/j.nmd.2022.02.001>
Neuromuscular Disorders, 32(5), 399-409. Elsevier Ltd.

مصطلحات موضوعية: Adult, 2716 Genetics (clinical), Adolescent, Oligonucleotides, Infant, 610 Medicine & health, Spinal Muscular Atrophies of Childhood, 10040 Clinic for Neurology, Muscular Atrophy, Spinal, Young Adult, 2728 Neurology (clinical), Neurology, 360 Social problems & social services, 10036 Medical Clinic, Child, Preschool, 2808 Neurology, Pediatrics, Perinatology and Child Health, Humans, Neurology (clinical), 2735 Pediatrics, Perinatology and Child Health, Child, Switzerland, Genetics (clinical)

وصف الملف: cPIIS0960896622000323.pdf - application/pdf; application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::471abdfcbdd228784da0f561145baffa
https://doi.org/10.5167/uzh-223821

المؤلفون: Wolfgang Wittmann, Oswald Hasselmann, Ulrike Schara, Elisabeth Steiner, Gudrun Schreiber, Matthias Baumann, Veronka Horber, Elke Hobbiebrunken, Marina Flotats-Bastardas, Benedikt Winter, Claudia Weiß, Oliver Schwartz, Gert Wiegand, Manuela Theophil, Barbara Plecko, Arpad von Moers, G. Bernert, Corinna Stoltenburg, Astrid Pechmann, Anna Kellersmann, Jessika Johannsen, Kurt Schlachter, Martin Smitka, Ekkehard Wilichowski, Janbernd Kirschner, Burkhard Stüve, Wolfgang Müller-Felber, C. Köhler, Maja von der Hagen, Ursula Gruber-Sedlmayr, Christof Reihle

المصدر: Journal of neuromuscular diseases. 7(1)

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Consensus, Delphi Technique, Medizin, Delphi method, MEDLINE, Oligonucleotides, Spinal Muscular Atrophies of Childhood, 03 medical and health sciences, 0302 clinical medicine, Standard care, Germany, medicine, Humans, Neurologists, Pediatricians, Intensive care medicine, Child, business.industry, Spinal muscular atrophy, medicine.disease, SMA, 3. Good health, Natural history, Clinical trial, 030104 developmental biology, Neurology, Austria, Nusinersen, Neurology (clinical), business, 030217 neurology & neurosurgery, Switzerland

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1120c9e95d0e7d5dcc8a5981b95afcfc
https://pubmed.ncbi.nlm.nih.gov/31744015

المؤلفون: Oswald Hasselmann, Thomas Schmitt, Bernard Baertschi

المصدر: Bulletin des Médecins Suisses.

مصطلحات موضوعية: Microbiology (medical), Immunology, Immunology and Allergy

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::c693618696b85c6e5bb9f1a806e56a31
https://doi.org/10.4414/bms.2019.17413

المؤلفون: Ursula Wolf, Oswald Hasselmann, Benedikt M. Huber, Johannes H. Wildhaber, Tido von Schoen-Angerer

المصدر: Huber, Benedikt M.; von Schoen-Angerer, Tido; Hasselmann, Oswald; Wildhaber, Johannes; Wolf, Ursula (2019). Swiss paediatrician survey on complementary medicine. Swiss medical weekly, 2019(149), pp. 1-8. EMH Media 10.4414/smw.2019.20091 <http://dx.doi.org/10.4414/smw.2019.20091>

مصطلحات موضوعية: Adult, Complementary Therapies, Male, Health Knowledge, Attitudes, Practice, Pediatrics, medicine.medical_specialty, Attitude of Health Personnel, medicine.medical_treatment, Population, education, MEDLINE, 610 Medicine & health, 03 medical and health sciences, 0302 clinical medicine, Anthroposophic medicine, 600 Technology, 0502 economics and business, medicine, Humans, Pediatricians, 030212 general & internal medicine, Child, Group level, Response rate (survey), education.field_of_study, business.industry, 05 social sciences, General Medicine, Homeopathy, Middle Aged, Health Care Surveys, Female, 050211 marketing, Integrative medicine, Complementary medicine, business, Switzerland

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98a4344c6051871b5c5a9bb1e285740b

المؤلفون: Philip J. Broser, Oswald Hasselmann, Jürg Lütschg, Oliver Maier

المصدر: Abstracts of the 44th Annual Meeting of the Society for Neuropediatrics.

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Electrophysiology, business.industry, Medicine, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::8c03da979a95b90f5481c128f94ea681
https://doi.org/10.1055/s-0038-1675234

المؤلفون: Oswald Hasselmann

المصدر: Neuropediatrics. 48:059-060

مصطلحات موضوعية: medicine.medical_specialty, Pediatrics, business.industry, Family medicine, Pediatrics, Perinatology and Child Health, Neurodisability, Medicine, Neurology (clinical), General Medicine, business, Child health

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b272abe43b3b021c3d71de333bc46a2c
https://doi.org/10.1055/s-0036-1597673

المؤلفون: Mary B. Connolly, Philippa B. Mills, Lucia Abela, K Paul, Eduard A. Struys, Eduard Paschke, Nicole I. Wolf, G. Schmiedel, Oswald Hasselmann, Peter E. Clayton, Sylvia Stockler, Doris Hofer, Barbara Plecko, Oliver Maier, Simone Kanz

المساهمون: Pediatric surgery, Laboratory Medicine, NCA - Brain mechanisms in health and disease, University of Zurich, Plecko, Barbara

المصدر: Neurology, 82(16), 1425-1433. Lippincott Williams and Wilkins
Plecko, B, Paul, K, Mills, P, Clayton, P, Paschke, E, Maier, O, Hasselmann, O, Schmiedel, G, Kanz, S, Connolly, M, Wolf, N I, Struys, E A, Stockler, S, Abela, L & Hofer, D 2014, ' Pyridoxine responsiveness in novel mutations of the PNPO gene ', Neurology, vol. 82, no. 16, pp. 1425-1433 . https://doi.org/10.1212/WNL.0000000000000344

مصطلحات موضوعية: Male, DNA Mutational Analysis, Gene Expression, PNPO, Compound heterozygosity, medicine.disease_cause, Bioinformatics, Exon, Epilepsy, Status Epilepticus, Missense mutation, Medicine, Genetics, Mutation, Drug Substitution, Brain Diseases, Metabolic, Genetic Carrier Screening, Pyridoxine, Electroencephalography, Exons, Pyridoxaminephosphate Oxidase, 2728 Neurology (clinical), Pyridoxal Phosphate, Hypoxia-Ischemia, Brain, Female, Chromosome Deletion, Spasms, Infantile, medicine.drug, education, Mutation, Missense, 610 Medicine & health, CHO Cells, Biology, Affect (psychology), Article, Diagnosis, Differential, Cricetulus, Seizures, Animals, Humans, Gene, Alleles, business.industry, Infant, Newborn, Aldehyde Dehydrogenase, medicine.disease, 10036 Medical Clinic, Mutation testing, Neurology (clinical), business

وصف الملف: PleckoB, 2014.pdf - application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::abf1f524dddcc6b4c77d30fb365165ee
https://pubmed.ncbi.nlm.nih.gov/24658933

المؤلفون: Georg F. Hoffmann, Charlotte L. Alston, André Schaller, Richard J. Rodenburg, Holger Prokisch, Yoshihito Kishita, Markus Schuelke, Sascha Sauer, Yasin Memari, Thomas Meitinger, Regina Trollmann, Urania Kotzaeridou, Kei Murayama, Wolfgang Sperl, Thomas Wieland, Stefan Kölker, Saikat Santra, Tobias B. Haack, Hartmut Engels, Gudrun Schottmann, Boriana Büchner, Yasushi Okazaki, Johannes A. Mayr, Masakazu Kohda, Christopher B. Jackson, Yoshimi Tokuzawa, Jean-Marc Nuoffer, Richard Durbin, Beate Albrecht, Peter Freisinger, Robert W. Taylor, Ramona Bolognini, Dagmar Hahn, Tim M. Strom, Dagmar Wieczorek, Oswald Hasselmann, Laura S. Kremer, Kirsten Cremer, Elisabeth Graf, Akira Ohtake, Maaike de Vries, Anja Kolb-Kokocinski, Alexander M. Zink, Thomas Klopstock, Seila Eggimann

المصدر: Annals of Clinical and Translational Neurology, 2, 492-509
Haack, Tobias B; Jackson, Christopher; Murayama, Kei; Kremer, Laura S; Schaller, André; Kotzaeridou, Urania; de Vries, Maaike C; Schottmann, Gudrun; Santra, Saikat; Büchner, Boriana; Wieland, Thomas; Graf, Elisabeth; Freisinger, Peter; Eggimann, Seila; Ohtake, Akira; Okazaki, Yasushi; Kohda, Masakazu; Kishita, Yoshihito; Tokuzawa, Yoshimi; Sauer, Sascha; ... (2015). Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement. Annals of Clinical and Translational Neurology, 2(5), pp. 492-509. Wiley 10.1002/acn3.189 <http://dx.doi.org/10.1002/acn3.189>
Annals of Clinical and Translational Neurology 2(5), 492-509 (2015). doi:10.1002/acn3.189
Ann. Clin. Transl. Neurol. 2, 492-509 (2015)
Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology, 2, 5, pp. 492-509

مصطلحات موضوعية: medicine.medical_specialty, Encephalopathy, Medizin, 610 Medicine & health, Biology, Compound heterozygosity, Atrophy, Valine, Internal medicine, ECHS1, 540 Chemistry, medicine, ddc:610, Fibroblast, GeneralLiterature_REFERENCE(e.g.,dictionaries,encyclopedias,glossaries), Research Articles, Catabolism, General Neuroscience, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Metabolism, medicine.disease, 3. Good health, ddc, medicine.anatomical_structure, Endocrinology, Biochemistry, 570 Life sciences, biology, Neurology (clinical), Technology Platforms

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9cbfd05fc6afc9c13c3832076ece9a9e
http://hdl.handle.net/2066/154949