Zobrazeno 1 - 10
of 952
pro vyhledávání: '"HEREDITARY central nervous system demyelinating diseases"'
Autor:
Ganguly J; Movement Disorder Centre, Institute of Neurosciences Kolkata, 185, Acharya Jagadish Chandra Bose Rd, Elgin, Kolkata, West Bengal, 700017, India. Electronic address: jackyganguly03@gmail.com., Garg D; Department of Neurology, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, 110029, India. Electronic address: divyanig@gmail.com., Chandarana M; Department of Movement Disorders, Marengo CIMS Hospital, Panchamrut Bunglows II, Sola, Ahmedabad, Gujarat, 380060, India. Electronic address: miteshchandu9@gmail.com., Basu P; Movement Disorder Centre, Institute of Neurosciences Kolkata, 185, Acharya Jagadish Chandra Bose Rd, Elgin, Kolkata, West Bengal, 700017, India. Electronic address: poorva78@yahoo.co.in., Pandita N; Movement Disorder Centre, Institute of Neurosciences Kolkata, 185, Acharya Jagadish Chandra Bose Rd, Elgin, Kolkata, West Bengal, 700017, India. Electronic address: neha_onsar@yahoo.co.in., Mukherjee S; Department of Neurology, Institute of Neurosciences Kolkata, 185, Acharya Jagadish Chandra Bose Rd, Elgin, Kolkata, West Bengal, 700017, India. Electronic address: drsoumava@gmail.com., Singh N; Department of Neurology, Institute of Neurosciences Kolkata, 185, Acharya Jagadish Chandra Bose Rd, Elgin, Kolkata, West Bengal, 700017, India. Electronic address: drnilamsingh111@gmail.com., Rawool A; Medical Genomics, MedGenome Labs Ltd, Narayana Health City, # 258/A, Bommasandra, Hosur Rd, Bengaluru, Karnataka, 560 100, India. Electronic address: anupkumar.rawool@medgenome.com., Sannyasi G; Department of Neuro Rehabilitation, Institute of Neurosciences Kolkata, 185, Acharya Jagadish Chandra Bose Rd, Elgin, Kolkata, West Bengal, 700017, India. Electronic address: gourav91.cal@gmail.com., Kumar P; Department of Psychiatry, Institute of Neurosciences Kolkata, 185, Acharya Jagadish Chandra Bose Rd, Elgin, Kolkata, West Bengal, 700017, India. Electronic address: drpraveenkumarjakati@gmail.com., Kumar H; Movement Disorder Centre, Institute of Neurosciences Kolkata, 185, Acharya Jagadish Chandra Bose Rd, Elgin, Kolkata, West Bengal, 700017, India. Electronic address: rishi_medicine@yahoo.com.
Publikováno v:
Parkinsonism & related disorders [Parkinsonism Relat Disord] 2024 Nov; Vol. 128, pp. 107152. Date of Electronic Publication: 2024 Sep 17.
Autor:
Dimartino P; Department of Molecular Medicine, University of Pavia, Pavia, Italy., Zadorozhna M; Neurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy., Yumiceba V; Institute of Human Genetics, Universitätsklinikum Schleswig Holstein, University of Lübeck and University of Kiel, Lübeck, Germany., Basile A; Department of Molecular Medicine, University of Pavia, Pavia, Italy., Cani I; Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Bologna, Italy.; Functional and Molecular Neuroimaging Unit, IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy., Melo US; Max Planck Institute for Molecular Genetics, Human Molecular Genomics Group, Berlin, Germany.; Institute for Medical Genetics and Human Genetics, Charité University Medicine Berlin, Berlin, Germany., Henck J; Max Planck Institute for Molecular Genetics, Human Molecular Genomics Group, Berlin, Germany., Breur M; Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam University Medical Center, Amsterdam, the Netherlands., Tonon C; Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Bologna, Italy.; Functional and Molecular Neuroimaging Unit, IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy., Lodi R; Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Bologna, Italy.; Functional and Molecular Neuroimaging Unit, IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy., Brusco A; Department of Neurosciences Rita Levi-Montalcini, University of Turin, Turin, Italy.; Unit of Medical Genetics, Città della Salute e della Scienza University Hospital, Turin, Italy., Pippucci T; Medical Genetics Unit, Sant'Orsola-Malpighi University Hospital, Bologna, Italy., Koufi FD; Cellular Signalling Laboratory, Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Bologna, Italy., Boschetti E; Cellular Signalling Laboratory, Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Bologna, Italy., Ramazzotti G; Cellular Signalling Laboratory, Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Bologna, Italy., Manzoli L; Cellular Signalling Laboratory, Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Bologna, Italy., Ratti S; Cellular Signalling Laboratory, Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Bologna, Italy., Pinto E Vairo F; Center for Individualized Medicine and Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota, USA., Delatycki MB; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia., Vaula G; Department of Neuroscience, Azienda Ospedaliera-Universitaria Città della Salute e della Scienza, Turin, Italy., Cortelli P; Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Bologna, Italy.; Functional and Molecular Neuroimaging Unit, IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy., Bugiani M; Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam University Medical Center, Amsterdam, the Netherlands.; Department of Pathology, Amsterdam University Medical Center, Amsterdam, the Netherlands., Spielmann M; Institute of Human Genetics, Universitätsklinikum Schleswig Holstein, University of Lübeck and University of Kiel, Lübeck, Germany.; Max Planck Institute for Molecular Genetics, Human Molecular Genomics Group, Berlin, Germany.; Institute of Human Genetics, Universitätsklinikum Schleswig Holstein Campus Kiel and Christian-Albrechts-Universität, Kiel, Germany., Giorgio E; Department of Molecular Medicine, University of Pavia, Pavia, Italy.; Neurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy.
Publikováno v:
Annals of neurology [Ann Neurol] 2024 Nov; Vol. 96 (5), pp. 855-870. Date of Electronic Publication: 2024 Jul 30.
Autor:
Gürbüz BB; Division of Pediatric Metabolism, Ankara Bilkent City Hospital, Ankara, Turkey., Gülbakan B; Division of Metabolism, Hacettepe University Institute of Child Health, Ankara, Turkey., Özgül RK; Division of Genetics, Hacettepe University Institute of Child Health, Ankara, Turkey., Yalnızoğlu D; Division of Pediatric Neurology, Hacettepe University Faculty of Medicine, Ankara, Turkey., Yılmaz DY; Division of Genetics, Hacettepe University Institute of Child Health, Ankara, Turkey., Göçmen R; Division of Radiology, Hacettepe University Faculty of Medicine, Ankara, Turkey., Koşukcu C; Department of Bioinformatics, Hacettepe University Institute of Health, Ankara, Turkey., Kandemir N; Division of Pediatric Endocrinology, Hacettepe University Faculty of Medicine, Ankara, Turkey., Acar NV; Faculty of Medicine, Hacettepe University Institute of Child Health, Ankara, Turkey., Salih B; Depatment of Chemistry, Hacettepe University Faculty of Science, Ankara, Turkey., Dursun A; Division of Pediatric Metabolism, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2024 Sep; Vol. 194 (9), pp. e63645. Date of Electronic Publication: 2024 May 06.
Autor:
Wilson E; The University of Melbourne, Melbourne, VIC, Australia. ella.wilson@monashivfgroup.com., Leventer R; Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Australian Genomics, Melbourne, VIC, Australia.; Royal Children's Hospital, Melbourne, VIC, Australia.; The University of Melbourne, Melbourne, VIC, Australia., Cunningham C; Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Royal Children's Hospital, Melbourne, VIC, Australia.; Victorian Clinical Genetics Services, Melbourne, VIC, Australia.; The University of Melbourne, Melbourne, VIC, Australia., de Silva MG; Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Victorian Clinical Genetics Services, Melbourne, VIC, Australia.; The University of Melbourne, Melbourne, VIC, Australia., Hodgson J; The University of Melbourne, Melbourne, VIC, Australia., Uebergang E; Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Australian Genomics, Melbourne, VIC, Australia.
Publikováno v:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Sep 05; Vol. 19 (1), pp. 322. Date of Electronic Publication: 2024 Sep 05.
Autor:
Zhang Y; Department of Medical Genetics and Center for Rare Diseases, Zhejiang Key Laboratory of Rare Diseases for Precision Medicine and Clinical Translation, Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310009, China; Nanhu Brain-computer Interface Institute, Hangzhou, Zhejiang 314050, China; Department of Neurology, Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310009, China., Wu ZY; Department of Medical Genetics and Center for Rare Diseases, Zhejiang Key Laboratory of Rare Diseases for Precision Medicine and Clinical Translation, Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310009, China; Nanhu Brain-computer Interface Institute, Hangzhou, Zhejiang 314050, China; Department of Neurology, Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310009, China; MOE Frontier Science Center for Brain Science and Brain-machine Integration, School of Brain Science and Brain Medicine, Zhejiang University, Hangzhou, Zhejiang 310012, China. Electronic address: zhiyingwu@zju.edu.cn.
Publikováno v:
Journal of genetics and genomics = Yi chuan xue bao [J Genet Genomics] 2024 Jul; Vol. 51 (7), pp. 778-780. Date of Electronic Publication: 2024 May 08.
Autor:
D'Souza O; Blacktown, NSW., Rashidianfar A; Sydney, NSW.
Publikováno v:
Australasian psychiatry : bulletin of Royal Australian and New Zealand College of Psychiatrists [Australas Psychiatry] 2024 Jun; Vol. 32 (3), pp. 259. Date of Electronic Publication: 2024 Mar 22.
Autor:
Siori D; University Research Institute of Maternal and Child Health and Precision Medicine, School of Medicine, National Kapodistrian University of Athens, 115 27 Athens, Greece.; Clinical and Translational Research Endocrine Unit, School of Medicine, National Kapodistrian University of Athens, 115 28 Athens, Greece., Vlachakis D; University Research Institute of Maternal and Child Health and Precision Medicine, School of Medicine, National Kapodistrian University of Athens, 115 27 Athens, Greece.; Laboratory of Genetics, Department of Biotechnology, School of Applied Biology and Biotechnology, Agricultural University of Athens, 75 Iera Odos, 11855 Athens, Greece.; School of Informatics, Faculty of Natural & Mathematical Sciences, King's College London, Bush House, Strand, London WC2R 2LS, UK., Makrythanasis P; Laboratory of Medical Genetics, School of Medicine, National Kapodistrian University of Athens, 115 27 Athens, Greece.; Department of Genetic Medicine and Development, Medical School, University of Geneva, 1211 Geneva, Switzerland.; Biomedical Research Foundation of the Academy of Athens, 115 27 Athens, Greece., Traeger-Synodinos J; Laboratory of Medical Genetics, School of Medicine, National Kapodistrian University of Athens, 115 27 Athens, Greece., Veltra D; Laboratory of Medical Genetics, School of Medicine, National Kapodistrian University of Athens, 115 27 Athens, Greece., Kampouraki A; Laboratory of Medical Genetics, School of Medicine, National Kapodistrian University of Athens, 115 27 Athens, Greece., Chrousos GP; University Research Institute of Maternal and Child Health and Precision Medicine, School of Medicine, National Kapodistrian University of Athens, 115 27 Athens, Greece.; Clinical and Translational Research Endocrine Unit, School of Medicine, National Kapodistrian University of Athens, 115 28 Athens, Greece.
Publikováno v:
Genes [Genes (Basel)] 2024 Apr 23; Vol. 15 (5). Date of Electronic Publication: 2024 Apr 23.
Autor:
Kaur N; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Arora K; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Radhakrishnan P; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Narayanan DL; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.; DBT-Wellcome Trust India Alliance Early Career Clinical and Public Health Research Fellow, Hyderabad, India., Shukla A; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India. anju.shukla@manipal.edu.
Publikováno v:
Neurogenetics [Neurogenetics] 2024 Apr; Vol. 25 (2), pp. 85-91. Date of Electronic Publication: 2024 Jan 27.
Autor:
Welten S; RWTH Aachen University, Chair of Computer Science 5, Aachen, 52074, Germany. welten@dbis.rwth-aachen.de., de Arruda Botelho Herr M; University Hospital Tübingen, Institute for Translational Bioinformatics, Tübingen, 72072, Germany. marius.de-arruda-botelho-herr@uni-tuebingen.de.; Methods in Medical Informatics, University Tübingen, Tübingen, 72076, Germany. marius.de-arruda-botelho-herr@uni-tuebingen.de., Hempel L; Mittweida University of Applied Sciences, Faculty Applied Computer and Bio Sciences, Mittweida, 09644, Germany.; Leipzig University Medical Center, Dept. Medical Data Science, Leipzig, 04107, Germany.; Leipzig University, Institute for Medical Informatics, Statistics and Epidemiology, Leipzig, 04107, Germany., Hieber D; University Hospital Tübingen, Institute for Translational Bioinformatics, Tübingen, 72072, Germany., Placzek P; University Hospital Tübingen, Institute for Translational Bioinformatics, Tübingen, 72072, Germany., Graf M; University Hospital Tübingen, Institute for Translational Bioinformatics, Tübingen, 72072, Germany., Weber S; RWTH Aachen University, Chair of Computer Science 5, Aachen, 52074, Germany., Neumann L; RWTH Aachen University, Chair of Computer Science 5, Aachen, 52074, Germany., Jugl M; Mittweida University of Applied Sciences, Faculty Applied Computer and Bio Sciences, Mittweida, 09644, Germany.; Leipzig University Medical Center, Dept. Medical Data Science, Leipzig, 04107, Germany.; Leipzig University, Institute for Medical Informatics, Statistics and Epidemiology, Leipzig, 04107, Germany., Tirpitz L; RWTH Aachen University, Data Stream Management and Analysis, Aachen, 52074, Germany., Kindermann K; RWTH Aachen University, Chair of Computer Science 5, Aachen, 52074, Germany., Geisler S; RWTH Aachen University, Data Stream Management and Analysis, Aachen, 52074, Germany.; Fraunhofer Institute for Applied Information Technology FIT, Sankt Augustin, 53757, Germany., Bonino da Silva Santos LO; University of Twente - Enschede, Services and Cybersecurity Group, Faculty of Electrical Engineering, Mathematics and Computer Science, 7513 GB, Enschede, the Netherlands., Decker S; RWTH Aachen University, Chair of Computer Science 5, Aachen, 52074, Germany.; Fraunhofer Institute for Applied Information Technology FIT, Sankt Augustin, 53757, Germany., Pfeifer N; Methods in Medical Informatics, University Tübingen, Tübingen, 72076, Germany., Kohlbacher O; University Hospital Tübingen, Institute for Translational Bioinformatics, Tübingen, 72072, Germany., Kirsten T; Mittweida University of Applied Sciences, Faculty Applied Computer and Bio Sciences, Mittweida, 09644, Germany.; Leipzig University Medical Center, Dept. Medical Data Science, Leipzig, 04107, Germany.; RWTH Aachen University, Data Stream Management and Analysis, Aachen, 52074, Germany.; Leipzig University, Center for Scalable Data Analytics and Artificial Intelligence, Leipzig, 04107, Germany.
Publikováno v:
Scientific data [Sci Data] 2024 Jun 22; Vol. 11 (1), pp. 663. Date of Electronic Publication: 2024 Jun 22.
Autor:
Khan D; Department of Cardiovascular and Metabolic Sciences, Cleveland Clinic, Lerner Research Institute, Cleveland, OH, USA., Ramachandiran I; Department of Cardiovascular and Metabolic Sciences, Cleveland Clinic, Lerner Research Institute, Cleveland, OH, USA., Vasu K; Department of Cardiovascular and Metabolic Sciences, Cleveland Clinic, Lerner Research Institute, Cleveland, OH, USA., China A; Department of Cardiovascular and Metabolic Sciences, Cleveland Clinic, Lerner Research Institute, Cleveland, OH, USA., Khan K; Department of Cardiovascular and Metabolic Sciences, Cleveland Clinic, Lerner Research Institute, Cleveland, OH, USA., Cumbo F; Genomic Medicine Institute, Cleveland Clinic, Lerner Research Institute, Cleveland, OH, USA., Halawani D; Department of Cardiovascular and Metabolic Sciences, Cleveland Clinic, Lerner Research Institute, Cleveland, OH, USA., Terenzi F; Department of Cardiovascular and Metabolic Sciences, Cleveland Clinic, Lerner Research Institute, Cleveland, OH, USA., Zin I; Department of Cardiovascular and Metabolic Sciences, Cleveland Clinic, Lerner Research Institute, Cleveland, OH, USA.; Department of Chemistry, Cleveland State University, Cleveland, OH, USA., Long B; Department of Cardiovascular and Metabolic Sciences, Cleveland Clinic, Lerner Research Institute, Cleveland, OH, USA., Costain G; Department of Paediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada., Blaser S; Department of Diagnostic Imaging, Division of Neuroradiology, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada., Carnevale A; Department of Paediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada., Gogonea V; Department of Chemistry, Cleveland State University, Cleveland, OH, USA., Dutta R; Department of Neuroscience, Cleveland Clinic, Lerner Research Institute, Cleveland, OH, USA., Blankenberg D; Genomic Medicine Institute, Cleveland Clinic, Lerner Research Institute, Cleveland, OH, USA., Yoon G; Department of Paediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada. grace.yoon@utoronto.ca.; Department of Paediatrics, Division of Neurology, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada. grace.yoon@utoronto.ca., Fox PL; Department of Cardiovascular and Metabolic Sciences, Cleveland Clinic, Lerner Research Institute, Cleveland, OH, USA. foxp@ccf.org.
Publikováno v:
Nature communications [Nat Commun] 2024 May 20; Vol. 15 (1), pp. 4284. Date of Electronic Publication: 2024 May 20.