يعرض 1 - 10 نتائج من 31 نتيجة بحث عن '"David Schorling"', وقت الاستعلام: 3.70s تنقيح النتائج
  1. 1
    دورية أكاديمية
    Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder

    المؤلفون: Sukhleen Kour, Deepa S. Rajan, Tyler R. Fortuna, Eric N. Anderson, Caroline Ward, Youngha Lee, Sangmoon Lee, Yong Beom Shin, Jong-Hee Chae, Murim Choi, Karine Siquier, Vincent Cantagrel, Jeanne Amiel, Elliot S. Stolerman, Sarah S. Barnett, Margot A. Cousin, Diana Castro, Kimberly McDonald, Brian Kirmse, Andrea H. Nemeth, Dhivyaa Rajasundaram, A. Micheil Innes, Danielle Lynch, Patrick Frosk, Abigail Collins, Melissa Gibbons, Michele Yang, Isabelle Desguerre, Nathalie Boddaert, Cyril Gitiaux, Siri Lynne Rydning, Kaja K. Selmer, Roser Urreizti, Alberto Garcia-Oguiza, Andrés Nascimento Osorio, Edgard Verdura, Aurora Pujol, Hannah R. McCurry, John E. Landers, Sameer Agnihotri, E. Corina Andriescu, Shade B. Moody, Chanika Phornphutkul, Maria J. Guillen Sacoto, Amber Begtrup, Henry Houlden, Janbernd Kirschner, David Schorling, Sabine Rudnik-Schöneborn, Tim M. Strom, Steffen Leiz, Kali Juliette, Randal Richardson, Ying Yang, Yuehua Zhang, Minghui Wang, Jia Wang, Xiaodong Wang, Konrad Platzer, Sandra Donkervoort, Carsten G. Bönnemann, Matias Wagner, Mahmoud Y. Issa, Hasnaa M. Elbendary, Valentina Stanley, Reza Maroofian, Joseph G. Gleeson, Maha S. Zaki, Jan Senderek, Udai Bhan Pandey

    المصدر: Nature Communications, Vol 12, Iss 1, Pp 1-15 (2021)

    مصطلحات موضوعية: Science

    وصف الملف: electronic resource

    Relation: https://doaj.org/toc/2041-1723

    URL الوصول: https://doaj.org/article/89c11aed01764fe28b3d252a2c5bccf7

    Find this article in full text from Springer Verlag. Find this article in full text from ProQuest Full Text Finder
    أضف إلى المفضلة
  2. 2
    دورية أكاديمية
    De-duplicating patient records from three independent data sources reveals the incidence of rare neuromuscular disorders in Germany

    المؤلفون: Kirsten König, Astrid Pechmann, Simone Thiele, Maggie C. Walter, David Schorling, Adrian Tassoni, Hanns Lochmüller, Clemens Müller-Reible, Janbernd Kirschner

    المصدر: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-7 (2019)

    مصطلحات موضوعية: Incidence, Neuromuscular disease, Spinal muscular atrophy, Duchenne muscular dystrophy, Medicine

    وصف الملف: electronic resource

    Relation: http://link.springer.com/article/10.1186/s13023-019-1125-2; https://doaj.org/toc/1750-1172

    URL الوصول: https://doaj.org/article/4078961974ba44e2b22cd8c31a59872c

    Find this article in full text from Springer Verlag. Find this article in full text from ProQuest Full Text Finder
    أضف إلى المفضلة
  3. 3
    دورية أكاديمية
    SMArtCARE - A platform to collect real-life outcome data of patients with spinal muscular atrophy

    المؤلفون: Astrid Pechmann, Kirsten König, Günther Bernert, Kristina Schachtrup, Ulrike Schara, David Schorling, Inge Schwersenz, Sabine Stein, Adrian Tassoni, Sibylle Vogt, Maggie C. Walter, Hanns Lochmüller, Janbernd Kirschner

    المصدر: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-6 (2019)

    مصطلحات موضوعية: Spinal muscular atrophy, Real-life outcome data, Orphan drug, Rare disease, Registry, Medicine

    وصف الملف: electronic resource

    Relation: http://link.springer.com/article/10.1186/s13023-019-0998-4; https://doaj.org/toc/1750-1172

    URL الوصول: https://doaj.org/article/a83b67a28e984288b50f76b05e169552

    Find this article in full text from Springer Verlag. Find this article in full text from ProQuest Full Text Finder
    أضف إلى المفضلة
  4. 4
    Post‐dural puncture headache—a single‐centre analysis in paediatric patients with and without SMA

    المؤلفون: David Schorling, Astrid Pechmann, Janbernd Kirschner, Matthias Eckenweiler, Cornelia K Müller, Thorsten Langer

    المصدر: Acta Paediatrica. 110:1895-1901

    مصطلحات موضوعية: Adult, Pediatrics, medicine.medical_specialty, Adolescent, Post-dural-puncture headache, Spinal Puncture, 03 medical and health sciences, 0302 clinical medicine, 030225 pediatrics, medicine, Humans, 030212 general & internal medicine, Child, Retrospective Studies, Paediatric patients, medicine.diagnostic_test, business.industry, Lumbar puncture, Headache, General Medicine, SMA, Single centre, Pediatrics, Perinatology and Child Health, Cohort, Post-Dural Puncture Headache, Headaches, medicine.symptom, business, Therapeutic lumbar puncture

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::998b9a0086b0ccd06aacd195109e7cb1
    https://doi.org/10.1111/apa.15799

    View record at Wiley
    أضف إلى المفضلة
  5. 5
    Phenotypic Spectrum of PNPT1: Interferonopathy or Not?

    المؤلفون: David Schorling, Rupleen Kaur, J. Kirschner, Matthias Eckenweiler, A. Lee-Kirsch, Sandra Donkervoort, Wibke G. Janzarik, Carsten G. Bönnemann

    المصدر: Abstracts of the 46th Annual Meeting of the Society for Neuropediatrics.

    مصطلحات موضوعية: Genetics, business.industry, Medicine, business, Phenotype, Spectrum (topology)

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::6355610f7d4516da368639e832ce84ba
    https://doi.org/10.1055/s-0041-1739628

    أضف إلى المفضلة
  6. 6
    MLIP causes recessive myopathy with rhabdomyolysis, myalgia and baseline elevated serum creatine kinase

    المؤلفون: Elena Martín-Hernández, Michio Inoue, Kimberly Y. Lin, Allan M. Glanzman, Janbernd Kirschner, Eleonora Guadagnin, Lynn A. Megeney, David Schorling, Osorio Lopes Abath Neto, Patrick G. Burgon, Aurelio Hernández-Laín, Francisco Martínez-Azorín, Uta Lichter-Konecki, Ichizo Nishino, Gihan Tennekoon, Véronique Bolduc, Ying Hu, Linford Williams, Justin H Berger, John F. Brandsema, Livija Medne, María Elena Rodríguez-García, Konstantinos Kolokotronis, Carsten G. Bönnemann, S. Borell, Francisco Javier Cotrina-Vinagre, Brenda Banwell, A. Reghan Foley, Hirofumi Komaki, Mariarita Santi, Sandra Donkervoort

    المصدر: Brain

    مصطلحات موضوعية: myalgia, Male, medicine.medical_specialty, Adolescent, Cardiomyopathy, Cellular homeostasis, Rhabdomyolysis, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Muscular Diseases, Internal medicine, medicine, Humans, Myopathy, Child, Creatine Kinase, 030304 developmental biology, Aged, 80 and over, 0303 health sciences, Muscle Weakness, hyperCKemia, business.industry, Skeletal muscle, Genetic Variation, Nuclear Proteins, Original Articles, Myalgia, medicine.disease, medicine.anatomical_structure, Endocrinology, Child, Preschool, rhabdomyolysis, MLIP, Female, Neurology (clinical), medicine.symptom, business, cardiomyopathy, Co-Repressor Proteins, 030217 neurology & neurosurgery, Homeostasis, Lamin, myopathy

    وصف الملف: application/pdf

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0fef5c2d3849877669948dbd4ea95014
    https://pubmed.ncbi.nlm.nih.gov/35915960

    أضف إلى المفضلة
  7. 7
    Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder

    المؤلفون: Danielle C. Lynch, Jia Wang, Aurora Pujol, Henry Houlden, Diana Castro, Xiaodong Wang, Jan Senderek, Shade B. Moody, Melissa Gibbons, Tim M. Strom, Abigail Collins, Jong Hee Chae, John Landers, Udai Bhan Pandey, Tyler R. Fortuna, Reza Maroofian, Hannah R. McCurry, Andrea H. Németh, Yuehua Zhang, Nathalie Boddaert, Carsten G. Bönnemann, Sabine Rudnik-Schöneborn, Vincent Cantagrel, Kali Juliette, Jeanne Amiel, Amber Begtrup, Sangmoon Lee, David Schorling, Chanika Phornphutkul, Konrad Platzer, E. Corina Andriescu, Roser Urreizti, Eric N. Anderson, Cyril Gitiaux, Randal Richardson, Maha S. Zaki, Matias Wagner, Hasnaa M. Elbendary, Dhivyaa Rajasundaram, Brian Kirmse, Murim Choi, Sandra Donkervoort, Joseph G. Gleeson, Steffen Leiz, Mahmoud Y. Issa, Valentina Stanley, Patrick Frosk, Siri Lynne Rydning, Karine Siquier, Janbernd Kirschner, Sameer Agnihotri, Sarah S. Barnett, Isabelle Desguerre, Michele Yang, Yong Beom Shin, Deepa S. Rajan, Margot A. Cousin, Andrés Nascimento Osorio, A. Micheil Innes, Ying Yang, Elliot S. Stolerman, Youngha Lee, Kimberly McDonald, Alberto Garcia-Oguiza, Edgard Verdura, Caroline Ward, Maria J. Guillen Sacoto, Minghui Wang, Sukhleen Kour, Kaja Kristine Selmer

    المصدر: NATURE COMMUNICATIONS
    r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
    Fundació Sant Joan de Déu
    Nature Communications
    r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
    Universidad de Alicante (UA)
    Nature Communications, Vol 12, Iss 1, Pp 1-15 (2021)

    مصطلحات موضوعية: Male, 0301 basic medicine, Developmental Disabilities, General Physics and Astronomy, 0302 clinical medicine, Neurodevelopmental disorder, Loss of Function Mutation, RNA-Seq, Neurons, Regulation of gene expression, Myoclonic Cerebellar Dyssynergia, Multidisciplinary, Neurodevelopmental disorders, Developmental disorders, Rigor Mortis, Gene Expression Regulation, Developmental, SMN Complex Proteins, Ribonucleoproteins, Small Nuclear, Hypotonia, Pedigree, Cell biology, medicine.anatomical_structure, Child, Preschool, Gene Knockdown Techniques, Muscle Hypotonia, Drosophila, Female, medicine.symptom, Ataxia, Science, Induced Pluripotent Stem Cells, Biology, Polymorphism, Single Nucleotide, Article, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, medicine, Animals, Humans, snRNP, Amino Acid Sequence, Alleles, Loss function, Cerebellar ataxia, General Chemistry, Motor neuron, medicine.disease, Gene Ontology, HEK293 Cells, 030104 developmental biology, 030217 neurology & neurosurgery

    وصف الملف: application/pdf

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ed9687e3344ab597c47489b1520ba6f
    https://doi.org/10.1038/s41467-021-22627-w

    Find this article in full text from Springer Verlag. Find this article in full text from ProQuest
    أضف إلى المفضلة
  8. 8
    Neue Therapieoptionen und deren Implikationen für die Transition

    المؤلفون: Janbernd Kirschner, David Schorling, Astrid Pechmann

    المصدر: NeuroTransmitter. 30:36-41

    مصطلحات موضوعية: business.industry, Medicine, business

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::a790bc2361e28b6c3253604662c7afb1
    https://doi.org/10.1007/s15016-019-6748-y

    Find this article in full text from Springer Verlag.
    أضف إلى المفضلة
  9. 9
    Muskelschwäche

    المؤلفون: David Schorling, Janbernd Kirschner

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::8bcaa6d2c251da65d774d3a90c373be0
    https://doi.org/10.1016/b978-3-437-22533-8.00101-x

    أضف إلى المفضلة
  10. 10
    Impaired secretion of platelet granules in patients with Duchenne muscular dystrophy : results of a prospective diagnostic study

    المؤلفون: Barbara Zieger, S. Borell, Heike Kölbel, Astrid Pechmann, Cornelia K Müller, S. Rosenfelder, Ulrike Schara, David Schorling, Janbernd Kirschner

    مصطلحات موضوعية: Adult, Blood Platelets, Male, 0301 basic medicine, Bodily Secretions, medicine.medical_specialty, Adolescent, Duchenne muscular dystrophy, Medizin, Gastroenterology, Cohort Studies, Dystrophin, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Coagulopathy, Humans, Platelet, Prospective Studies, Platelet activation, Child, Genetics (clinical), biology, CD63, business.industry, medicine.disease, Pathophysiology, Muscular Dystrophy, Duchenne, 030104 developmental biology, Neurology, Hemostasis, Mutation, Pediatrics, Perinatology and Child Health, biology.protein, Female, Neurology (clinical), business, 030217 neurology & neurosurgery

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::42a5f524974a028ae5072cf345cb077c
    https://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&origin=inward&scp=85097732604

    أضف إلى المفضلة
أدوات البحث: أحصل على تغذية RSS – أرسل هذا البحث بالبريد الإلكتروني – حفظ البحث – جدول التنبيهات: لا شيء