المؤلفون: Ingrid Bader, M. Freilinger, F. Landauer, S. Waldmüller, W. Mueller-Felber, C. Rauscher, W. Sperl, R. E. Bittner, W. M. Schmidt, J. A. Mayr

المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-10 (2022)

مصطلحات موضوعية: MYH7, Myopathy, ß-cardiac myosin heavy chain, Actin-binding domain, Exome-analysis, Medicine

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/3788b27f1fac4656b0974f853cbcc19dTest

المؤلفون: Katharina Vill, Erik Harms, J. Durner, Dieter Gläser, W. Röschinger, U. Nennstiel, W. Mueller-Felber, S. Burggraf, Astrid Blaschek, Brunhilde Wirth, B. Olgemüller, Heike Kölbel, M. Becker, Ulrike Schara, Oliver Schwartz

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Newborn screening, Neurology, business.industry, Pediatrics, Perinatology and Child Health, medicine, Medizin, Neurology (clinical), Spinal muscular atrophy, medicine.disease, business, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c17e918d2658789f147cd9afe29de1eTest

المؤلفون: Matthias Baumann, Christiane Gumpold, Christine Haberler, Wolfgang N. Loescher, Benedikt Schoser, Julia Wanschitz, W. Mueller-Felber, Michael B. Fischer, Kevin Rostasy

المصدر: Neuromuscular disorders : NMD. 28(12)

مصطلحات موضوعية: 0301 basic medicine, Male, Vascular Endothelial Growth Factor A, Pathology, medicine.medical_specialty, Adolescent, Angiogenesis, Neovascularization, Physiologic, MyoD, Muscle Development, Dermatomyositis, Transforming Growth Factor beta1, 03 medical and health sciences, Medicine, Humans, Child, Muscle, Skeletal, Genetics (clinical), Myogenin, Endothelial Progenitor Cells, business.industry, Myogenesis, Muscle atrophy, Endothelial stem cell, Muscular Atrophy, 030104 developmental biology, Neurology, Myogenic Regulatory Factors, Child, Preschool, Pediatrics, Perinatology and Child Health, Myogenic regulatory factors, Female, Neurology (clinical), PAX7, medicine.symptom, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::33bec0278df5ae65b365d4385e473515Test
https://pubmed.ncbi.nlm.nih.gov/30389421Test

المؤلفون: W. Mueller-Felber, Sebastian Huetker, Irene Schmid, Ingo Borggraefe

المصدر: Neuropediatrics. 49(1)

مصطلحات موضوعية: medicine.medical_specialty, Adolescent, 030209 endocrinology & metabolism, Fasciculation, Functional Laterality, Paraganglioma, 03 medical and health sciences, 0302 clinical medicine, Tongue, medicine, Humans, business.industry, General Medicine, Anatomy, medicine.disease, Magnetic Resonance Imaging, Surgery, medicine.anatomical_structure, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5610a928475b5d2c5c035ca00cb3fd12Test
https://pubmed.ncbi.nlm.nih.gov/29117599Test

المؤلفون: Nathalie Goemans, Eugenio Mercuri, Elena Belousova, Hirofumi Komaki, Alberto Dubrovsky, Craig M. McDonald, John E. Kraus, Afrodite Lourbakos, Zhengning Lin, Giles Campion, Susanne X. Wang, Craig Campbell, A. Araujo, E. Bertini, P. Born, C. Cances, B. Chabrol, J.-H. Chae, J. Colomer Oferil, G.P. Comi, J.-M. Cuisset, G. D'Anjou, I. Desguerre, R. Erazo Torricelli, R. Escobar, D. Feder, A. Ferlini, R. Giugliani, E. Henricson, A. Herczegfalvi, Y.-J. Jong, S. Kimura, J.-B. Kirschner, K. Kleinsteuber, A. Kostera-Pruszczyk, M. Kudr, W. Mueller-Felber, E.H. Niks, K. Ogata, C. Palermo, M. Pane, I. Pascual, Y. Pereon, S. Raskin, M. Rasmussen, U. Reed, U. Schara, K. Selby, C. Sobreira, Y. Takeshima, J.J. Vilchez Padilla, G. Vita, P. Vondracek, G. Wiegand, E. Wilichowski

المساهمون: Schara, Ulrike (Beitragende*r)

المصدر: Paediatrics Publications
Neuromuscular Disorders
Neuromuscular Disorders, 28(1), 4-15

مصطلحات موضوعية: 0301 basic medicine, Duchenne muscular dystrophy, Male, medicine.medical_specialty, Adolescent, Population, six-minute walking distance, Medizin, Oligonucleotides, Phases of clinical research, Socio-culturale, Motor Activity, Placebo, Pediatrics, Dystrophin, 03 medical and health sciences, 0302 clinical medicine, Double-Blind Method, Internal medicine, Statistical significance, Medicine, Humans, Antisense oligonucleotide, education, Adverse effect, Child, Drisapersen, Genetics (clinical), education.field_of_study, business.industry, Perinatology and Child Health, medicine.disease, Muscular Dystrophy, Duchenne, 030104 developmental biology, Treatment Outcome, Neurology, Child, Preschool, Pediatrics, Perinatology and Child Health, Ambulatory, Neurology (clinical), 6-minute walking distance, antisense oligonucleotide, drisapersen, dystrophin, exon skipping, business, 030217 neurology & neurosurgery, Exon skipping, Biomarkers, Six-minute walking distance

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b23f19cae216fd0ab3f5c58c553a0a7Test
https://pubmed.ncbi.nlm.nih.gov/29203355Test

المؤلفون: W. Mueller-Felber, Wildon Farwell, Sandra P. Reyna, Sarah Gheuens, Thomas O. Crawford, R. Richardson, Perry B. Shieh, P. Sun, G. Gambino, Diana Castro, N. Natarajan, Gyula Acsadi

المصدر: Neuromuscular Disorders. 27:S210-S211

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, business.industry, 030503 health policy & services, Spinal muscular atrophy, medicine.disease, SMA, 03 medical and health sciences, 030104 developmental biology, Physical medicine and rehabilitation, Neurology, Pediatrics, Perinatology and Child Health, medicine, Physical therapy, Nusinersen, Neurology (clinical), 0305 other medical science, business, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::a4aca496c587ff2ca63a8d4ea06b559fTest
https://doi.org/10.1016/j.nmd.2017.06.420Test

المؤلفون: James J. Dowling, Blair H. Smith, Perry B. Shieh, MacBean, Francesco Muntoni, Salvador Rico, W. Mueller-Felber, M. Jain, Suyash Prasad, Teresa Pitts, Carsten G. Bönnemann, M. Noursalehi, Tina Duong, D. Bilder, Robert J. Graham, Nancy L. Kuntz, Michael W. Lawlor, L. Servais, G Rafferty

المصدر: Neuromuscular Disorders. 28:S70

مصطلحات موضوعية: Natural history, Pediatrics, medicine.medical_specialty, Neurology, business.industry, Pediatrics, Perinatology and Child Health, Non interventional, medicine, Neurology (clinical), medicine.disease, business, X-linked myotubular myopathy, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::7ef37e88749c515a2498e58c3198d811Test
https://doi.org/10.1016/j.nmd.2018.06.164Test

المؤلفون: Tobias B. Haack, W. Mueller-Felber, Thomas Meitinger, Sabrina Dusi, Thomas Gasser, Sergiusz Jozwiak, Maja Hempel, Tomasz Kmieć, Monika Hartig, Gerd Schmitz, Małgorzata Krajewska-Walasek, Hans A. Kretzschmar, Thomas Klopstock, Tim M. Strom, Katharina Heim, Valeria Tiranti, Arcangela Iuso, Holger Prokisch, Matthias Elstner, Elżbieta Jurkiewicz, Claudia Trenkwalder, Victoria Tarabin, Sigrun Roeber, Konrad Oexle, Juliane Winkelmann

المساهمون: Hartig, Monika B., Iuso, Arcangela, Haack, Tobia, Kmiec, Tomasz, Jurkiewicz, Elzbieta, Heim, Katharina, Roeber, Sigrun, Tarabin, Victoria, Dusi, Sabrina, Krajewska-Walasek, Malgorzata, Jozwiak, Sergiusz, Hempel, Maja, Winkelmann, Juliane, Elstner, Matthia, Oexle, Konrad, Klopstock, Thoma, Mueller-Felber, Wolfgang, Gasser, Thoma, Trenkwalder, Claudia, Tiranti, Valeria, Kretzschmar, Han, Schmitz, Gerd, Strom, Tim M., Meitinger, Thoma, Prokisch, Holger

المصدر: The American Journal of Human Genetics; Vol 89
The American journal of human genetics 89(4), 543-550 (2011). doi:10.1016/j.ajhg.2011.09.007
The American Journal of Human Genetics
Am. J. Hum. Genet. 89, 543-550 (2011)
ResearcherID

مصطلحات موضوعية: Male, Pathology, Candidate gene, Neurodegeneration with brain iron accumulation, Compound heterozygosity, Cohort Studies, 0302 clinical medicine, Missense mutation, Genetics(clinical), Cloning, Molecular, Child, Genetics (clinical), metabolism [Iron], Genetics, 0303 health sciences, Homozygote, Brain, Neurodegenerative Diseases, Disease gene identification, Mitochondria, 3. Good health, Pedigree, Child, Preschool, Female, genetics [Mitochondrial Proteins], Case-Control Studie, Human, Adult, medicine.medical_specialty, Heterozygote, Adolescent, Iron, Molecular Sequence Data, Mutation, Missense, Biology, Article, Pantothenate kinase-associated neurodegeneration, Mitochondrial Proteins, 03 medical and health sciences, WDR45, Genetic, ddc:570, Gene, Mutations, Dystonia, Disease, PLA2G6, PANK2, medicine, Mitochondrial Protein, Humans, Amino Acid Sequence, 030304 developmental biology, C19orf12 protein, human, Neurodegenerative Disease, Sequence Homology, Amino Acid, Genetic heterogeneity, medicine.disease, metabolism [Mitochondria], metabolism [Brain], Case-Control Studies, genetics [Neurodegenerative Diseases], Mutation, Cohort Studie, 030217 neurology & neurosurgery

وصف الملف: ELETTRONICO; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d226046d8496f705355682194c0f4f48Test

المؤلفون: Florian Heinen, Reinhard Hohlfeld, Ingo Borggraefe, Peter Lohse, Tania Kümpfel, W. Mueller-Felber, Kristina Huss, Astrid Blaschek

المصدر: Multiple Sclerosis Journal. 16:1517-1520

مصطلحات موضوعية: Male, Multiple Sclerosis, Adolescent, Familial Mediterranean fever, medicine.disease_cause, Pyrin domain, Central nervous system disease, Degenerative disease, Immunopathology, medicine, Humans, Autoimmune disease, Mutation, business.industry, Multiple sclerosis, Pyrin, medicine.disease, Pedigree, Cytoskeletal Proteins, Neurology, Receptors, Tumor Necrosis Factor, Type I, Immunology, Female, Neurology (clinical), business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::45954f28da1e5d5dabcfd9912337f603Test
https://doi.org/10.1177/1352458510382933Test

المؤلفون: Jiri Vajsar, Diana Castro, Ishir Bhan, R. Richardson, Wildon Farwell, P. Sun, Sandra P. Reyna, Sarah Gheuens, G. Gambino, PB Shieh, TO Crawford, Gyula Acsadi, W. Mueller-Felber, N. Natarajan

المصدر: Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques. 45:S13-S13

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, medicine.diagnostic_test, business.industry, 030503 health policy & services, Neurological examination, General Medicine, Spinal muscular atrophy, medicine.disease, Intrathecal, SMA, 03 medical and health sciences, 0302 clinical medicine, Neurology, Tolerability, medicine, Clinical endpoint, Nusinersen, Neurology (clinical), 0305 other medical science, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::5f0c163a14f48dae083af20bab846b0cTest
https://doi.org/10.1017/cjn.2018.94Test