Zobrazeno 1 - 10
of 258
pro vyhledávání: '"Schorling D"'
Autor:
Kirschner, J., Schorling, D., Hauschke, D., Rensing-Zimmermann, C., Wein, U., Grieben, U., Schottmann, G., Schara, U., Konrad, K., Müller-Felber, W., Thiele, S., Wilichowski, E., Hobbiebrunken, E., Stettner, G.M., Korinthenberg, R.
Publikováno v:
In Neuromuscular Disorders February 2014 24(2):134-142
Autor:
Schorling, D., Kölbel, H., Hentschel, A., Pechmann, A., Meyer, N., Wirth, B., Rombo, R., Sickmann, A., Kirschner, J., Schara-Schmidt, U., Lochmüller, H., Roos, A.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=unidue___bib::a0020d93083365893fd2d20df77fea84
https://www.ncbi.nlm.nih.gov/pubmed/35318785
https://www.ncbi.nlm.nih.gov/pubmed/35318785
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Schorling, D., Kölbel, H., Hentschel, A., Pechmann, A., Meyer, N., Wirth, B., Rombo, R., Consortium, A. SMArtCARE, Sickmann, A., Kirschner, J., Schara-Schmidt, U., Lochmüller, H., Roos, A.
Publikováno v:
In Neuromuscular Disorders October 2022 32 Supplement 1:S64-S64
Autor:
Lopes Abath Neto O; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Department of Pathology, Division of Neuropathology, University of Pittsburgh Medical Center, Pittsburgh, PA, USA., Medne L; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA., Rodríguez-García ME; Grupo de Enfermedades Raras, Mitocondriales y Neuromusculares (ERMN), Instituto de Investigación Hospital 12 de Octubre, Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain., Bolduc V; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA., Hu Y; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA., Guadagnin E; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA., Foley AR; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA., Brandsema JF; Division of Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Glanzman AM; Division of Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Tennekoon GI; Division of Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Santi M; Department of Pathology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Berger JH; Division of Cardiology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Megeney LA; Ottawa Hospital Research Institute, Ottawa ON, Canada., Komaki H; National Center of Neurology and Psychiatry, Tokyo, Japan., Inoue M; National Center of Neurology and Psychiatry, Tokyo, Japan., Cotrina-Vinagre FJ; Grupo de Enfermedades Raras, Mitocondriales y Neuromusculares (ERMN), Instituto de Investigación Hospital 12 de Octubre, Madrid, Spain., Hernández-Lain A; Servicio de Anatomía Patológica (Neuropatología), Hospital 12 de Octubre, Madrid, Spain., Martin-Hernández E; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain.; Unidad Pediátrica de Enfermedades Raras, Enfermedades Mitocondriales y Metabólicas Hereditarias, Hospital 12 de Octubre, Madrid, Spain., Williams L; Division of Medical Genetics, Children's Hospital of Pittsburgh, Pittsburgh, PA, USA., Borell S; Department of Neuropediatrics and Muscle Disorders, Medical Center, University of Freiburg, Faculty of Medicine, University of Freiburg, Germany., Schorling D; Department of Neuropediatrics and Muscle Disorders, Medical Center, University of Freiburg, Faculty of Medicine, University of Freiburg, Germany., Lin K; Division of Cardiology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Kolokotronis K; Institute of Human Genetics, Biocenter, Julius-Maximilians-University Würzburg, Würzburg, Germany., Lichter-Konecki U; Division of Medical Genetics, Children's Hospital of Pittsburgh, Pittsburgh, PA, USA., Kirschner J; Department of Neuropediatrics and Muscle Disorders, Medical Center, University of Freiburg, Faculty of Medicine, University of Freiburg, Germany.; Department of Neuropediatrics, University Hospital Bonn, Faculty of Medicine, Bonn, Germany., Nishino I; National Center of Neurology and Psychiatry, Tokyo, Japan., Banwell B; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Martínez-Azorín F; Grupo de Enfermedades Raras, Mitocondriales y Neuromusculares (ERMN), Instituto de Investigación Hospital 12 de Octubre, Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain., Burgon PG; Department of Chemistry and Earth Science, College of Arts and Sciences, Qatar University, Qatar., Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
Publikováno v:
Brain : a journal of neurology [Brain] 2021 Oct 22; Vol. 144 (9), pp. 2722-2731.
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Kour S; Department of Pediatrics, Childrens Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA, USA., Rajan DS; Department of Pediatrics, Childrens Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA, USA., Fortuna TR; Department of Pediatrics, Childrens Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA, USA., Anderson EN; Department of Pediatrics, Childrens Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA, USA., Ward C; Department of Pediatrics, Childrens Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA, USA., Lee Y; Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Republic of Korea., Lee S; Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Republic of Korea., Shin YB; Department of Rehabilitative Medicine, Pusan National University School of Medicine, Pusan, Republic of Korea., Chae JH; Department of Pediatrics, Seoul National University College of Medicine, Seoul, Republic of Korea., Choi M; Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Republic of Korea.; Department of Pediatrics, Seoul National University College of Medicine, Seoul, Republic of Korea., Siquier K; Developmental Brain Disorders Laboratory, Paris University, Imagine Institute, INSERM UMR, Paris, France., Cantagrel V; Developmental Brain Disorders Laboratory, Paris University, Imagine Institute, INSERM UMR, Paris, France., Amiel J; Department of Genetics, AP-HP, Necker Enfants Malades Hospital, Paris University, Imagine Institute, Paris, France., Stolerman ES; Greenwood Genetic Center, Greenwood, SC, USA., Barnett SS; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Cousin MA; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA., Castro D; Department of Pediatrics and Neurology, University of Texas Southwestern Medical Center, Dallas, TX, USA., McDonald K; University of Mississippi Medical Center, Jackson, MS, USA., Kirmse B; Division of Genetics, University of Mississippi Medical Center, Jackson, MS, USA., Nemeth AH; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.; Oxford Centre for Genomic Medicine, Oxford University Hospitals National Health Service Foundation Trust, Oxford, UK., Rajasundaram D; Department of Pediatrics, Division of Health Informatics, Childrens Hospital of Pittsburgh, Pittsburgh, PA, USA., Innes AM; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Canada., Lynch D; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Canada., Frosk P; Department of Biochemistry and Medical Genetics, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, MB, Canada., Collins A; Department of Pediatrics and Neurology, Children's Hospital of Colorado, University of Colorado School of Medicine, Aurora, CO, USA., Gibbons M; Department of Pediatrics and Neurology, Children's Hospital of Colorado, University of Colorado School of Medicine, Aurora, CO, USA., Yang M; Department of Pediatrics and Neurology, Children's Hospital of Colorado, University of Colorado School of Medicine, Aurora, CO, USA., Desguerre I; Department of Pediatric Neurology, AP-HP, Necker Enfants Malades Hospital, Paris University Imagine Institute, Paris, France., Boddaert N; Department of Pediatric Radiology, AP-HP, Necker Enfants Malades Hospital, Paris University Imagine Institute, Paris, France., Gitiaux C; Department of Pediatric Neurophysiology AP-HP, Necker Enfants Malades Hospital, Paris University, Paris, France., Rydning SL; Department of Neurology, Oslo University Hospital, Oslo, Norway., Selmer KK; Department of Research and Development, Division of Neuroscience, Oslo University Hospital and the University of Oslo, Oslo, Norway., Urreizti R; Department of Clinical Biochemistry, Institut de Recerca Sant Joan de Déu and CIBERER, Barcelona, Spain., Garcia-Oguiza A; Hospital Universitario Miguel Servet, Zaragoza, Spain., Osorio AN; Hospital Sant Joan de Déu, Barcelona, Spain., Verdura E; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain., Pujol A; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Catalan Institution for Research and Advanced Studies (ICREA), Barcelona, Spain., McCurry HR; Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Landers JE; Department of Neurology, University of Massachusetts Medical School, Worcester, MA, USA., Agnihotri S; Department of Neurological Surgery, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA., Andriescu EC; Department of Pediatrics, University of Texas Health Science Center, Houston, TX, USA., Moody SB; Department of Pediatrics, University of Texas Health Science Center, Houston, TX, USA., Phornphutkul C; Department of Pediatrics, Division of Human Genetics, Rhode Island Hospital and Warren Alpert Medical School of Brown University, Providence, RI, USA., Sacoto MJG; GeneDx, Gaithersburg, MD, USA., Begtrup A; GeneDx, Gaithersburg, MD, USA., Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK., Kirschner J; Department of Neuropediatrics and Muscle Disorders, Medical Center,, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Schorling D; Department of Neuropediatrics and Muscle Disorders, Medical Center,, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Rudnik-Schöneborn S; Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria., Strom TM; Institute of Human Genetics, Faculty of Medicine, Technical University Munich, Munich, Germany., Leiz S; Clinic for Children and Adolescents Dritter Orden, Divison of Neuropediatrics, Munchen, Germany., Juliette K; Department of Neurology, Gillette Children's Specialty Healthcare, St Paul, MN, USA., Richardson R; Department of Neurology, Gillette Children's Specialty Healthcare, St Paul, MN, USA., Yang Y; Department of Pediatrics, Peking University First Hospital, Beijing, China., Zhang Y; Department of Pediatrics, Peking University First Hospital, Beijing, China., Wang M; The First People's Hospital of Changde City, Hunan, China., Wang J; Cipher Gene Ltd, Beijing, China., Wang X; Cipher Gene Ltd, Beijing, China., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA., Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA., Wagner M; Institute of Human Genetics, Klinikum rechts der IsarTechnical, University of Munich, Munich, Germany., Issa MY; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., Elbendary HM; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., Stanley V; Departments of Neurosciences and Pediatrics, Rady Children's Institute for Genomic Medicine, Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA, USA., Maroofian R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK., Gleeson JG; Departments of Neurosciences and Pediatrics, Rady Children's Institute for Genomic Medicine, Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA, USA., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., Senderek J; Department of Neurology, Friedrich-Baur-Institute, University Hospital, LMU Munich, Munich, Germany., Pandey UB; Department of Pediatrics, Childrens Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA, USA. udai@pitt.edu.; Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA. udai@pitt.edu.; Children's Neuroscience Institute, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA, USA. udai@pitt.edu.
Publikováno v:
Nature communications [Nat Commun] 2021 May 07; Vol. 12 (1), pp. 2558. Date of Electronic Publication: 2021 May 07.
Autor:
Bieniaszewska, Aleksandra1,2 (AUTHOR) aleksandra.bieniaszewska.22@gmail.com, Sobieska, Magdalena3 (AUTHOR) msobieska@ump.edu.pl, Gajewska, Ewa1 (AUTHOR)
Publikováno v:
Journal of Clinical Medicine. Jul2024, Vol. 13 Issue 14, p4232. 14p.
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Kirschner J; (Bonn, Germany)., Becker J; (Cologne, Germany)., Schorling D; (Freiburg, Germany)., Pechmann A; (Freiburg, Germany)., Wirth B; (Cologne, Germany).
Publikováno v:
Neurology [Neurology] 2020 Jul 21; Vol. 95 (3), pp. 145.