Zobrazeno 1 - 10
of 393
pro vyhledávání: '"Martakis K"'
Autor:
Park J; Department of General Paediatrics, University of Münster, 48149, Münster, Germany. Julien.Park@ukmuenster.de., Bremova-Ertl T; Department of Neurology, University Hospital Bern (Inselspital), Bern, Switzerland., Brands M; Department of Paediatric Metabolic Disease, Amsterdam University Medical Center, Amsterdam, Netherlands., Foltan T; Department of Pediatric Neurology, National Institute of Children's Diseases, Comenius University in Bratislava, Bratislava, Slovak Republic., Gautschi M; Division of Paediatric Endocrinology, Diabetology and Metabolism, Department of Paediatrics, and Institute of Clinical Chemistry, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland., Gissen P; NIHR Great Ormond Street Hospital Biomedical Research Centre, University College London, London, UK., Hahn A; Department of Child Neurology, Justus Liebig University, Giessen, Germany., Jones S; Willink Unit, Manchester Centre for Genomic Medicine, Royal Manchester Children's Hospital, University of Manchester, Manchester, UK., Arash-Kaps L; SphinCS-Institute of Clinical Science in Lysosomal Storage Disorders, Hochheim, Germany., Kolnikova M; Department of Pediatric Neurology, National Institute of Children's Diseases, Comenius University in Bratislava, Bratislava, Slovak Republic., Patterson M; Departments of Neurology, Pediatrics and Clinical Genomics, Mayo Clinic Children's Center, Rochester, MN, USA., Perlman S; Department of Neurology, University of California, Los Angeles, CA, USA., Ramaswami U; Lysosomal Storage Disorder Unit, Royal Free London NHS Foundation Trust, London, UK., Reichmannová S; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic., Rohrbach M; Division of Metabolism, University Children's Hospital and Children's Research Centre, Zurich, Switzerland., Schneider SA; Department of Neurology, Ludwig Maximilians University, Munich, Germany., Shaikh A; Department of Neurology, Case Western Reserve University School of Medicine, Cleveland, OH, USA., Sivananthan S; NIHR Great Ormond Street Hospital Biomedical Research Centre, University College London, London, UK., Synofzik M; Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany., Walterfarng M; Department of Neuropsychiatry, The Royal Melbourne Hospital, Melbourne, VIC, Australia., Wibawa P; Department of Neuropsychiatry, The Royal Melbourne Hospital, Melbourne, VIC, Australia., Martakis K; Department of Child Neurology, Justus Liebig University, Giessen, Germany.; Department of Pediatrics, Medical Faculty and University Hospital, University of Cologne, Cologne, Germany., Manto M; Unité Des Ataxies Cérébelleuses, Service de Neurologie, Médiathèque Jean Jacquy, CHU-Charleroi, 6000, Charleroi, Belgium.
Publikováno v:
Journal of neurology [J Neurol] 2024 Oct; Vol. 271 (10), pp. 6888-6902. Date of Electronic Publication: 2024 Sep 03.
Autor:
Duran I; University of Cologne, Medical Faculty and University Hospital, Center of Prevention and Rehabilitation, UniReha, Cologne, Germany. Ibrahim.duran@unireha-koeln.de.; University of Cologne, Medical Faculty and University Hospital, Department of Pediatrics, Cologne, Germany. Ibrahim.duran@unireha-koeln.de., Wloka KR; University of Cologne, Medical Faculty and University Hospital, Center of Prevention and Rehabilitation, UniReha, Cologne, Germany., Martakis K; University of Cologne, Medical Faculty and University Hospital, Department of Pediatrics, Cologne, Germany.; Department of Pediatric Neurology, University Children's Hospital and Medical Faculty, Justus Liebig University of Giessen, Giessen, Germany., Spiess K; University of Cologne, Medical Faculty and University Hospital, Center of Prevention and Rehabilitation, UniReha, Cologne, Germany., Alexy U; Institute of Nutritional and Food Sciences, Nutritional Epidemiology, DONALD Study, University of Bonn, Dortmund, Germany., Schoenau E; University of Cologne, Medical Faculty and University Hospital, Center of Prevention and Rehabilitation, UniReha, Cologne, Germany.; University of Cologne, Medical Faculty and University Hospital, Department of Pediatrics, Cologne, Germany.
Publikováno v:
European journal of clinical nutrition [Eur J Clin Nutr] 2024 Jun; Vol. 78 (6), pp. 494-500. Date of Electronic Publication: 2023 Dec 29.
Autor:
Fields, T, Bremova, T M, Billington, I, Churchill, G C, Evans, W, Fields, C, Galione, A, Kay, R, Mathieson, T, Martakis, K, Patterson, M, Platt, F, Factor, M, Strupp, M
Publikováno v:
Fields, T; Bremova, T M; Billington, I; Churchill, G C; Evans, W; Fields, C; Galione, A; Kay, R; Mathieson, T; Martakis, K; Patterson, M; Platt, F; Factor, M; Strupp, M (2023). N-acetyl-L-leucine for Niemann-Pick type C: a multinational double-blind randomized placebo-controlled crossover study. Trials, 24(1), p. 361. BioMed Central 10.1186/s13063-023-07399-6
Background Niemann-Pick disease type C (NPC) is a rare autosomal recessive neurodegenerative lysosomal disease characterized by multiple symptoms such as progressive cerebellar ataxia and cognitive decline. The modified amino acid N-acetyl-leucine ha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c70744407af9d5c6c4fd3a57351fa078
https://boris.unibe.ch/183014/1/s13063-023-07399-6.pdf
https://boris.unibe.ch/183014/1/s13063-023-07399-6.pdf
Autor:
Bossier C; Center of Prevention and Rehabilitation, Medical Faculty and University Hospital, University of Cologne, UniReha, Germany.; Department of Pediatrics, Medical Faculty and University Hospital, University of Cologne, Germany., Stark C; Department of Neurology, Medical Faculty and University Hospital, University of Frankfurt/Main, Germany., Martakis K; Department of Pediatrics, Medical Faculty and University Hospital, University of Cologne, Germany.; Pediatric Neurology, Medical Faculty and University Hospital, University of Gießen, Germany., Duran I; Center of Prevention and Rehabilitation, Medical Faculty and University Hospital, University of Cologne, UniReha, Germany.; Department of Pediatrics, Medical Faculty and University Hospital, University of Cologne, Germany., Schoenau E; Center of Prevention and Rehabilitation, Medical Faculty and University Hospital, University of Cologne, UniReha, Germany.; Department of Pediatrics, Medical Faculty and University Hospital, University of Cologne, Germany.
Publikováno v:
Journal of musculoskeletal & neuronal interactions [J Musculoskelet Neuronal Interact] 2024 Mar 01; Vol. 24 (1), pp. 12-21.
Autor:
Thangavelu K; Department of Otorhinolaryngology, Head and Neck Surgery, University Hospital Marburg, Philipps-Universität Marburg, Baldingerstrasse, 35043, Marburg, Germany. Kruthika.thangavelu@uk-gm.de., Martakis K; Department of Pediatric Neurology, Social Pediatrics and Epileptology, Justus-Liebig-University Giessen and University Hospital Giessen, Feulgenstr. 10-12, 35392, Giessen, Germany.; Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, Kerpener Strasse 62, 50937, Cologne, Germany., Feldmann S; Department of Otorhinolaryngology, Head and Neck Surgery, University of Cologne, Kerpener Strasse 62, 50937, Cologne, Germany., Roth B; Department of Neonatology, Faculty of Medicine and University Hospital Cologne, Kerpener Strasse 62, 50937, Cologne, Germany., Lang-Roth R; Department of Otorhinolaryngology, Head and Neck Surgery, University of Cologne, Kerpener Strasse 62, 50937, Cologne, Germany.
Publikováno v:
European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery [Eur Arch Otorhinolaryngol] 2023 Oct; Vol. 280 (10), pp. 4455-4465. Date of Electronic Publication: 2023 May 08.
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Fields, T, M. Bremova, T, Billington, I, Churchill, GC, Evans, W, Fields, C, Galione, A, Kay, R, Mathieson, T, Martakis, K, Patterson, M, Platt, F, Factor, M, Strupp, M
Additional file 3. SPIRIT Checklist for Trials.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c9dd5c3a5e57c0bbfeb55b866e4a33c
Autor:
Fields, T, M. Bremova, T, Billington, I, Churchill, GC, Evans, W, Fields, C, Galione, A, Kay, R, Mathieson, T, Martakis, K, Patterson, M, Platt, F, Factor, M, Strupp, M
Additional file 2: Supplementary Table 1. Parent Study schedule of enrolment, interventions, and assessments. Supplementary Table 2. Extension Phase schedule of enrolment, interventions, and assessments.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a48036a62bde51d5e3e15c9edfad71e
Autor:
Fields, T, M. Bremova, T, Billington, I, Churchill, GC, Evans, W, Fields, C, Galione, A, Kay, R, Mathieson, T, Martakis, K, Patterson, M, Platt, F, Factor, M, Strupp, M
Additional file 1: Supplementary Material I. Safety Parameters. Supplementary Material II. Data Collection.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::abd63cbd590725326ccacf66123bbffd
Autor:
Günther R; Department of Neurology, University Hospital Carl Gustav Carus at Technische Universität Dresden, Dresden, Germany.; Deutsches Zentrum für Neurodegenerative Erkrankungen (DZNE), Dresden, Dresden, Germany., Wurster CD; Department of Neurology, Ulm University, Ulm, Germany., Brakemeier S; Department of Neurology, and Center for Translational Neuro- and Behavioral Sciences (C-TNBS), University Medicine Essen, Essen, Germany., Osmanovic A; Department of Neurology, Hannover Medical School, Hannover, Germany., Schreiber-Katz O; Department of Neurology, Hannover Medical School, Hannover, Germany., Petri S; Department of Neurology, Hannover Medical School, Hannover, Germany., Uzelac Z; Department of Neurology, Ulm University, Ulm, Germany., Hiebeler M; Friedrich Baur Institute at the Department of Neurology, LMU University Hospital, LMU Munich, Munich, Germany., Thiele S; Friedrich Baur Institute at the Department of Neurology, LMU University Hospital, LMU Munich, Munich, Germany., Walter MC; Friedrich Baur Institute at the Department of Neurology, LMU University Hospital, LMU Munich, Munich, Germany., Weiler M; Department of Neurology, Heidelberg University Hospital, Heidelberg, Germany., Kessler T; Department of Neurology, Heidelberg University Hospital, Heidelberg, Germany.; Clinical Cooperation Unit Neurooncology, German Cancer Consortium (DKTK), German Cancer Research Center (DKFZ), Heidelberg, Germany., Freigang M; Department of Neurology, University Hospital Carl Gustav Carus at Technische Universität Dresden, Dresden, Germany., Lapp HS; Department of Neurology, University Hospital Carl Gustav Carus at Technische Universität Dresden, Dresden, Germany., Cordts I; Department of Neurology, Technical University of Munich, School of Medicine, Munich, Germany., Lingor P; Department of Neurology, Technical University of Munich, School of Medicine, Munich, Germany., Deschauer M; Department of Neurology, Technical University of Munich, School of Medicine, Munich, Germany., Hahn A; Department of Child Neurology, Justus-Liebig University Gießen, Gießen, Germany., Martakis K; Department of Child Neurology, Justus-Liebig University Gießen, Gießen, Germany.; Department of Pediatrics, Medical Faculty and University Hospital, University of Cologne, Cologne, Germany., Steinbach R; Department of Neurology, Jena University Hospital, Jena, Germany., Ilse B; Department of Neurology, Jena University Hospital, Jena, Germany., Rödiger A; Department of Neurology, Jena University Hospital, Jena, Germany., Bellut J; Department of Neurology, University Hospital Würzburg, Würzburg, Germany., Nentwich J; Department of Neurology, University Hospital Würzburg, Würzburg, Germany., Zeller D; Department of Neurology, University Hospital Würzburg, Würzburg, Germany., Muhandes MT; Department of Neurology, University Medicine Göttingen, Göttingen, Germany., Baum T; Department of Neurology, University Medicine Göttingen, Göttingen, Germany., Christoph Koch J; Department of Neurology, University Medicine Göttingen, Göttingen, Germany., Schrank B; Department of Neurology, Deutsche Klinik für Diagnostik HELIOS Clinic of Wiesbaden, Wiesbaden, Germany., Fischer S; Translational Neurodegeneration Section 'Albrecht Kossel', Department of Neurology, University Medical Center Rostock, 18147, Rostock, Germany., Hermann A; Translational Neurodegeneration Section 'Albrecht Kossel', Department of Neurology, University Medical Center Rostock, 18147, Rostock, Germany.; Deutsches Zentrum für Neurodegenerative Erkrankungen (DZNE), Rostock/Greifswald, Rostock, Germany., Kamm C; Department of Neurology, University of Rostock, Rostock, Germany., Naegel S; Department of Neurology, University Medicine Halle, Halle (Saale), Germany., Mensch A; Department of Neurology, University Medicine Halle, Halle (Saale), Germany., Weber M; Neuromuscular Diseases Unit/ALS Clinic, Cantonal Hospital St. Gallen, St. Gallen, Switzerland., Neuwirth C; Neuromuscular Diseases Unit/ALS Clinic, Cantonal Hospital St. Gallen, St. Gallen, Switzerland., Lehmann HC; Department of Neurology and Center for Rare Diseases, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany., Wunderlich G; Department of Neurology and Center for Rare Diseases, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany., Stadler C; Department of Neurology, Klinikum Klagenfurt am Wörthersee, Klagenfurt am Wörthersee, Austria., Tomforde M; Department of Neurology, University Hospital Kiel, Kiel, Germany., George A; Department of Pediatric Neurology, Center for Chronically Sick Children, Charité-Universitätsmedizin Berlin, Berlin, Germany., Groß M; Faculty of Medicine and Health Sciences, Carl von Ossietzky University Oldenburg, Oldenburg, Germany.; Department of Neurological Intensive Care and Rehabilitation, Evangelisches Krankenhaus Oldenburg, Oldenburg, Germany., Pechmann A; Department of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Kirschner J; Department of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Türk M; Department of Neurology, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg (FAU), Germany., Schimmel M; Pediatrics and Adolescent Medicine, Faculty of Medicine University Hospital Augsburg, Augsburg, Germany., Bernert G; Department of Pediatrics and Pediatric Neurology, Clinic Favoriten, Vienna, Austria., Martin P; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University Hospitals Tubingen, Tubingen, Germany., Rauscher C; Department of Pediatrics, Paracelsus Medical University, Salzburg, Austria., Meyer Zu Hörste G; Department of Neurology, University Hospital Münster, Münster, Germany., Baum P; Department of Neurology, University of Leipzig Medical Centre, Leipzig, Germany., Löscher W; Division of Neurology, Medical University Innsbruck, Innsbruck, Austria., Flotats-Bastardas M; Department of Pediatric Neurology, Saarland University Hosptial, Homburg, Germany., Köhler C; Department of Neuropaediatrics, University Children's Hospital, Ruhr-University Bochum, Bochum, Germany., Probst-Schendzielorz K; Initiative SMA der Deutschen Gesellschaft für Muskelkranke, Freiburg, Germany., Goldbach S; Initiative SMA der Deutschen Gesellschaft für Muskelkranke, Freiburg, Germany., Schara-Schmidt U; Department of Paediatric Neurology, Center for Neuromuscular Disorders in Children and Adolescents, Center for Translational Neuro- and Behavioral Sciences, University Hospital, University of Duisburg-Essen, Essen, Germany., Müller-Felber W; Department of Neuropediatrics, Dr. v. Haunersche Kinderklinik, University Children's Hospital, Ludwig-Maximilians-Universität München, München, Germany., Lochmüller H; Department of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; Children's Hospital of Eastern Ontario Research Institute, Division of Neurology, Department of Medicine, The Ottawa Hospital; and Brain and Mind Research Institute, University of Ottawa, Ottawa, Canada., von Velsen O; Institute of Medical Informatics, Biometrics, and Epidemiology, University Hospital Essen, Essen, Germany.; Center for Clinical Trials, University Hospital Essen, Essen, Germany., Kleinschnitz C; Department of Neurology, and Center for Translational Neuro- and Behavioral Sciences (C-TNBS), University Medicine Essen, Essen, Germany., Ludolph AC; Department of Neurology, Ulm University, Ulm, Germany.; Deutsches Zentrum für Neurodegenerative Erkrankungen (DZNE), Ulm, Ulm, Germany., Hagenacker T; Department of Neurology, and Center for Translational Neuro- and Behavioral Sciences (C-TNBS), University Medicine Essen, Essen, Germany.
Publikováno v:
The Lancet regional health. Europe [Lancet Reg Health Eur] 2024 Feb 06; Vol. 39, pp. 100862. Date of Electronic Publication: 2024 Feb 06 (Print Publication: 2024).