Zobrazeno 1 - 10
of 17 263
pro vyhledávání: '"HYPOTONIA"'
Autor:
Guillén-Yunta M; Department of Neurological Diseases and Aging, Instituto de Investigaciones Biomédicas Sols-Morreale, Consejo Superior de Investigaciones Científicas (CSIC), Universidad Autónoma de Madrid (UAM), Madrid, Spain., García-Aldea Á; Department of Neurological Diseases and Aging, Instituto de Investigaciones Biomédicas Sols-Morreale, Consejo Superior de Investigaciones Científicas (CSIC), Universidad Autónoma de Madrid (UAM), Madrid, Spain., Valcárcel-Hernández V; Department of Neurological Diseases and Aging, Instituto de Investigaciones Biomédicas Sols-Morreale, Consejo Superior de Investigaciones Científicas (CSIC), Universidad Autónoma de Madrid (UAM), Madrid, Spain., Sanz-Bógalo A; Department of Neurological Diseases and Aging, Instituto de Investigaciones Biomédicas Sols-Morreale, Consejo Superior de Investigaciones Científicas (CSIC), Universidad Autónoma de Madrid (UAM), Madrid, Spain., Muñoz-Moreno E; Magnetic Imaging Resonance Core Facility, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain., Matheus MG; Department of Radiology and Radiological Science, Medical University of South Carolina, Charleston, SC, USA., Grijota-Martínez C; Department of Neurological Diseases and Aging, Instituto de Investigaciones Biomédicas Sols-Morreale, Consejo Superior de Investigaciones Científicas (CSIC), Universidad Autónoma de Madrid (UAM), Madrid, Spain; Department of Cell Biology, Faculty of Biology, Universidad Complutense de Madrid, Madrid, Spain., Montero-Pedrazuela A; Department of Neurological Diseases and Aging, Instituto de Investigaciones Biomédicas Sols-Morreale, Consejo Superior de Investigaciones Científicas (CSIC), Universidad Autónoma de Madrid (UAM), Madrid, Spain. Electronic address: amontero@iib.uam.es., Guadaño-Ferraz A; Department of Neurological Diseases and Aging, Instituto de Investigaciones Biomédicas Sols-Morreale, Consejo Superior de Investigaciones Científicas (CSIC), Universidad Autónoma de Madrid (UAM), Madrid, Spain. Electronic address: ana.guadano.ferraz@csic.es., Bárez-López S; Department of Neurological Diseases and Aging, Instituto de Investigaciones Biomédicas Sols-Morreale, Consejo Superior de Investigaciones Científicas (CSIC), Universidad Autónoma de Madrid (UAM), Madrid, Spain. Electronic address: sbarez@iib.uam.es.
Publikováno v:
Neurobiology of disease [Neurobiol Dis] 2024 Oct 01; Vol. 200, pp. 106621. Date of Electronic Publication: 2024 Aug 02.
Autor:
Goo M; The University of Queensland, School of Biomedical Sciences, Brisbane, Australia., Johnston LM; The University of Queensland, School of Health and Rehabilitation Sciences, Brisbane, Australia., Tucker K; The University of Queensland, School of Biomedical Sciences, Brisbane, Australia. Electronic address: k.tucker1@uq.edu.au.
Publikováno v:
Journal of biomechanics [J Biomech] 2024 Sep; Vol. 174, pp. 112267. Date of Electronic Publication: 2024 Aug 08.
Autor:
Du Y; Department of Biochemistry and Molecular Biology, School of Basic Medicine, Tongji Medical College and State Key Laboratory for Diagnosis and Treatment of Severe Zoonotic Infectious Diseases, Huazhong University of Science and Technology, Wuhan, China., Fan X; Department of Biochemistry and Molecular Biology, School of Basic Medicine, Tongji Medical College and State Key Laboratory for Diagnosis and Treatment of Severe Zoonotic Infectious Diseases, Huazhong University of Science and Technology, Wuhan, China., Song C; Shenzhen Bay Laboratory , Shenzhen, China., Chang W; Shenzhen Bay Laboratory , Shenzhen, China., Xiong J; Department of Anesthesiology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China., Deng L; Shenzhen Bay Laboratory , Shenzhen, China., Ji WK; Department of Biochemistry and Molecular Biology, School of Basic Medicine, Tongji Medical College and State Key Laboratory for Diagnosis and Treatment of Severe Zoonotic Infectious Diseases, Huazhong University of Science and Technology, Wuhan, China.; Cell Architecture Research Center, Huazhong University of Science and Technology , Wuhan, China.; Shenzhen Bay Laboratory , Shenzhen, China.
Publikováno v:
The Journal of cell biology [J Cell Biol] 2024 Dec 02; Vol. 223 (12). Date of Electronic Publication: 2024 Oct 01.
Autor:
Statha E; 2nd Department of Pediatrics, National and Kapodistrian University of Athens (NKUA), 'P. & A. Kyriakou' Children's Hospital, Athens, Greece., Paltoglou G; 2nd Department of Pediatrics, National and Kapodistrian University of Athens (NKUA), 'P. & A. Kyriakou' Children's Hospital, Athens, Greece., Doulgeraki A; Department of Bone and Mineral Metabolism, Institute of Child Health, Athens, Greece., Vakali E; Department of Endocrinology-Growth and Development, P. & A. Kyriakou Children's Hospital, Athens, Greece., Vlachopapadopoulou E; Department of Endocrinology-Growth and Development, P. & A. Kyriakou Children's Hospital, Athens, Greece. elpis.vl@gmail.com., Economou S; 2nd Department of Pediatrics, National and Kapodistrian University of Athens (NKUA), 'P. & A. Kyriakou' Children's Hospital, Athens, Greece., Sakou II; 2nd Department of Pediatrics, National and Kapodistrian University of Athens (NKUA), 'P. & A. Kyriakou' Children's Hospital, Athens, Greece., Soldatou A; 2nd Department of Pediatrics, National and Kapodistrian University of Athens (NKUA), 'P. & A. Kyriakou' Children's Hospital, Athens, Greece., Karavanaki K; 2nd Department of Pediatrics, National and Kapodistrian University of Athens (NKUA), 'P. & A. Kyriakou' Children's Hospital, Athens, Greece., Fryssira E; Medical Genetics Laboratory, National and Kapodistrian University of Athens (NKUA), Aghia Sophia Children's Hospital, Athens, Greece.
Publikováno v:
Hormones (Athens, Greece) [Hormones (Athens)] 2024 Dec; Vol. 23 (4), pp. 835-839. Date of Electronic Publication: 2024 Jul 22.
Autor:
Rodrigo ML; Division of Pediatric Gastroenterology, Hepatology, and Nutrition, Johns Hopkins School of Medicine, Baltimore, Maryland, USA., Heubi C; Division of Pediatric Otolaryngology - Head & Neck Surgery, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; Department of Otolaryngology - Head & Neck Surgery, University of Cincinnati Medical Center, Cincinnati, Ohio, USA., Chiou E; Division of Gastroenterology, Hepatology and Nutrition, Baylor College of Medicine, Texas Children's Hospital, Houston, Texas, USA., Scheimann A; Division of Pediatric Gastroenterology, Hepatology, and Nutrition, Johns Hopkins School of Medicine, Baltimore, Maryland, USA.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2024 Aug; Vol. 194 (8), pp. e63634. Date of Electronic Publication: 2024 Apr 15.
Autor:
Peng W; Department of Pediatrics, The Second Affiliated Hospital of Anhui Medical University, Hefei, China., Shi S; Department of Clinical Medicine, Anhui Medical College, Hefei, China., Yang L; Department of Pediatrics, The Second Affiliated Hospital of Anhui Medical University, Hefei, China., Liu D; Department of Pediatrics, The Second Affiliated Hospital of Anhui Medical University, Hefei, China.
Publikováno v:
Medicine [Medicine (Baltimore)] 2024 Jul 19; Vol. 103 (29), pp. e39047.
Autor:
Asif M; Cologne Center for Genomics (CCG), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany., Khayyat AIA; Biochemistry Department, King Saud University, Riyadh, Saudi Arabia., Alawbathani S; Cologne Center for Genomics (CCG), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany; GenAlive Lab, Riyadh, Saudi Arabia., Abdullah U; University Institute of Biochemistry and Biotechnology (UIBB), PMAS-Arid Agriculture University Rawalpindi, Rawalpindi, Pakistan., Sanner A; Institute for Biochemistry and Molecular Biology, Medical Faculty, University of Bonn, Bonn, Germany., Georgomanolis T; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany., Haasters J; Department of Paediatric Neurology and Developmental Medicine, Dr. von Hauner Children's Hospital, LMU Hospital Munich, Ludwig-Maximilians-Universität, Munich, Germany., Becker K; Cologne Center for Genomics (CCG), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany., Budde B; Cologne Center for Genomics (CCG), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany., Becker C; Cologne Center for Genomics (CCG), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany., Thiele H; Cologne Center for Genomics (CCG), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany., Baig SM; Department of Biological and Biomedical Sciences, The Aga Khan University, Karachi, Pakistan; Health Services Academy (HSA), Ministry of National Health Services Regulations and Coordination (MNHSR&C), Islamabad, Pakistan., Isidoro-García M; Reference Unit for Rare Diseases DiERCyL, Clinical Biochemistry Department, University Hospital of Salamanca, Medicine Department, University of Salamanca, IBSAL, Salamanca, Spain., Winter D; Institute for Biochemistry and Molecular Biology, Medical Faculty, University of Bonn, Bonn, Germany., Pogoda HM; Institute of Zoology, Developmental Biology Unit, University of Cologne, Cologne, Germany., Muhammad S; Department of Neurosurgery, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine-Universität Düsseldorf, Düsseldorf, Germany., Hammerschmidt M; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany; Institute of Zoology, Developmental Biology Unit, University of Cologne, Cologne, Germany., Kraft F; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany., Kurth I; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany., Martin HG; Departamento de Pediatría, Hospital Universitario de Salamanca, INCYL member, Salamanca, Spain., Wagner M; Department of Paediatric Neurology and Developmental Medicine, Dr. von Hauner Children's Hospital, LMU Hospital Munich, Ludwig-Maximilians-Universität, Munich, Germany; Institute of Human Genetics, TUM School of Medicine and Health, Technical University of Munich, Munich, Germany; Institute for Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany., Nürnberg P; Cologne Center for Genomics (CCG), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany., Hussain MS; Cologne Center for Genomics (CCG), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany. Electronic address: mhussain@uni-koeln.de.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Jul; Vol. 26 (7), pp. 101143. Date of Electronic Publication: 2024 Apr 16.
Autor:
Gabaldon-Albero A; Translational Genetics Research Group, Instituto de Investigacion Sanitaria La Fe (IIS La Fe), 46026 Valencia, Spain.; Pediatric Neurology Unit, Hospital Universitario y Politecnico La Fe, 46026 Valencia, Spain., Cordon L; Hematology Research Group, Instituto de Investigacion Sanitaria La Fe (IIS La Fe), 46026 Valencia, Spain.; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Instituto Carlos III, 20029 Madrid, Spain., Sempere A; Hematology Research Group, Instituto de Investigacion Sanitaria La Fe (IIS La Fe), 46026 Valencia, Spain.; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Instituto Carlos III, 20029 Madrid, Spain.; Hematology and Hemotherapy Service, Hospital Universitario y Politecnico La Fe, 46026 Valencia, Spain., Pedrola L; Translational Genetics Research Group, Instituto de Investigacion Sanitaria La Fe (IIS La Fe), 46026 Valencia, Spain.; Genetics Unit, Hospital Universitario y Politecnico La Fe, 46026 Valencia, Spain., Martin-Grau C; Translational Genetics Research Group, Instituto de Investigacion Sanitaria La Fe (IIS La Fe), 46026 Valencia, Spain.; Genetics Unit, Hospital Universitario y Politecnico La Fe, 46026 Valencia, Spain., Oltra S; Translational Genetics Research Group, Instituto de Investigacion Sanitaria La Fe (IIS La Fe), 46026 Valencia, Spain.; Genetics Unit, Hospital Universitario y Politecnico La Fe, 46026 Valencia, Spain., Monfort S; Translational Genetics Research Group, Instituto de Investigacion Sanitaria La Fe (IIS La Fe), 46026 Valencia, Spain.; Genetics Unit, Hospital Universitario y Politecnico La Fe, 46026 Valencia, Spain., Caro-Llopis A; Translational Genetics Research Group, Instituto de Investigacion Sanitaria La Fe (IIS La Fe), 46026 Valencia, Spain.; Genetics Unit, Hospital Universitario y Politecnico La Fe, 46026 Valencia, Spain., Dominguez-Martinez M; Translational Genetics Research Group, Instituto de Investigacion Sanitaria La Fe (IIS La Fe), 46026 Valencia, Spain.; Genetics Unit, Hospital Universitario y Politecnico La Fe, 46026 Valencia, Spain., Hernandez-Muela S; Pediatric Neurology Unit, Hospital Universitario y Politecnico La Fe, 46026 Valencia, Spain., Rosello M; Translational Genetics Research Group, Instituto de Investigacion Sanitaria La Fe (IIS La Fe), 46026 Valencia, Spain.; Genetics Unit, Hospital Universitario y Politecnico La Fe, 46026 Valencia, Spain., Orellana C; Translational Genetics Research Group, Instituto de Investigacion Sanitaria La Fe (IIS La Fe), 46026 Valencia, Spain.; Genetics Unit, Hospital Universitario y Politecnico La Fe, 46026 Valencia, Spain., Martinez F; Translational Genetics Research Group, Instituto de Investigacion Sanitaria La Fe (IIS La Fe), 46026 Valencia, Spain.; Genetics Unit, Hospital Universitario y Politecnico La Fe, 46026 Valencia, Spain.
Publikováno v:
Genes [Genes (Basel)] 2024 Jun 18; Vol. 15 (6). Date of Electronic Publication: 2024 Jun 18.
Autor:
Mi L; Department of Neonatology, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China., Yao R; Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China., Guo W; Department of Neonatology, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China. vivi_guo0578@163.com., Wang J; Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China. labwangjian@shsmu.edu.cn., Zhang G; Department of Neonatology, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China., Ye X; Department of Neonatology, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Publikováno v:
BMC pediatrics [BMC Pediatr] 2024 Aug 16; Vol. 24 (1), pp. 528. Date of Electronic Publication: 2024 Aug 16.
Autor:
Harel T; Department of Genetics, Hadassah Medical Center, Jerusalem, Israel, 9112001.; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel, 9112001., Spicher C; Institut de Génétique et de Biologie Moléculaire et Cellulaire, 67404 Illkirch, France.; Centre National de la Recherche Scientifique (CNRS), UMR7104, 67404 Illkirch, France.; Institut National de la Santé et de la Recherche Médicale (INSERM), U1258, 67404 Illkirch, France.; Université de Strasbourg, 67404 Illkirch, France., Scheer E; Institut de Génétique et de Biologie Moléculaire et Cellulaire, 67404 Illkirch, France.; Centre National de la Recherche Scientifique (CNRS), UMR7104, 67404 Illkirch, France.; Institut National de la Santé et de la Recherche Médicale (INSERM), U1258, 67404 Illkirch, France.; Université de Strasbourg, 67404 Illkirch, France., Buchan JG; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA 98195-7110, USA., Cech J; University of Washington and Seattle Children's Hospital, Seattle, WA 98105, USA., Folland C; Harry Perkins Institute of Medical Research, University of Western Australia, Nedlands, WA 6009, Australia., Frey T; Institute of Medical Genetics, University of Zürich, Schlieren-Zurich, 8952, Switzerland., Holtz AM; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA., Innes AM; Department of Medical Genetics and Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta T2N 1N4, Canada., Keren B; Department of Genetics and Referral Center for Intellectual Disabilities of Rare Causes, AP-HP, Sorbonne Université, Assistance Publique-Hopitaux de Paris, Pitié-Salpêtrière Hospital, 75013, Paris, France., Macken WL; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK., Marcelis C; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6525 HR, Nijmegen, The Netherlands., Otten CE; University of Washington and Seattle Children's Hospital, Seattle, WA 98105, USA., Paolucci SA; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA 98195-7110, USA., Petit F; CHU Lille, Clinique de génétique Guy Fontaine, F-59000 Lille, France., Pfundt R; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6525 HR, Nijmegen, The Netherlands., Pitceathly RDS; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK., Rauch A; Institute of Medical Genetics, University of Zürich, Schlieren-Zurich, 8952, Switzerland.; University Children's Hospital Zurich, 8032 Zurich, Switzerland.; University of Zurich Research Priority Program ITINERARE: Innovative Therapies in Rare Diseases, 8032 Zurich, Switzerland.; University of Zurich Research Priority Program AdaBD: Adaptive Brain Circuits in Development and Learning, 8057 Zurich, Switzerland., Ravenscroft G; Harry Perkins Institute of Medical Research, University of Western Australia, Nedlands, WA 6009, Australia., Sanchev R; Centre for Clinical Genetics, Sydney Children's Hospitals Network-Randwick, Sydney, NSW 2031, Australia., Steindl K; Institute of Medical Genetics, University of Zürich, Schlieren-Zurich, 8952, Switzerland., Tammer F; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6525 HR, Nijmegen, The Netherlands., Tyndall A; Department of Medical Genetics and Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta T2N 1N4, Canada., Devys D; Institut de Génétique et de Biologie Moléculaire et Cellulaire, 67404 Illkirch, France.; Centre National de la Recherche Scientifique (CNRS), UMR7104, 67404 Illkirch, France.; Institut National de la Santé et de la Recherche Médicale (INSERM), U1258, 67404 Illkirch, France.; Université de Strasbourg, 67404 Illkirch, France., Vincent SD; Institut de Génétique et de Biologie Moléculaire et Cellulaire, 67404 Illkirch, France.; Centre National de la Recherche Scientifique (CNRS), UMR7104, 67404 Illkirch, France.; Institut National de la Santé et de la Recherche Médicale (INSERM), U1258, 67404 Illkirch, France.; Université de Strasbourg, 67404 Illkirch, France., Elpeleg O; Department of Genetics, Hadassah Medical Center, Jerusalem, Israel, 9112001.; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel, 9112001., Tora L; Institut de Génétique et de Biologie Moléculaire et Cellulaire, 67404 Illkirch, France.; Centre National de la Recherche Scientifique (CNRS), UMR7104, 67404 Illkirch, France.; Institut National de la Santé et de la Recherche Médicale (INSERM), U1258, 67404 Illkirch, France.; Université de Strasbourg, 67404 Illkirch, France.
Publikováno v:
Brain : a journal of neurology [Brain] 2024 Aug 01; Vol. 147 (8), pp. 2732-2744.