Zobrazeno 1 - 10
of 4 847
pro vyhledávání: '"TAY-Sachs disease"'
Autor:
Demir SA; Izmir Institute of Technology, IYTEDEHAM, Urla, Izmir, Turkey., Seyrantepe V; Izmir Institute of Technology, IYTEDEHAM, Urla, Izmir, Turkey. volkanseyrantepe@iyte.edu.tr.; Department of Molecular Biology and Genetics, Izmir Institute of Technology, Urla, Izmir, Turkey. volkanseyrantepe@iyte.edu.tr.
Publikováno v:
Journal of molecular medicine (Berlin, Germany) [J Mol Med (Berl)] 2024 Dec; Vol. 102 (12), pp. 1517-1526. Date of Electronic Publication: 2024 Nov 08.
Autor:
Šapina M; University Hospital Center Osijek, Osijek, Croatia.; Medical Faculty Osijek, Osijek, Croatia.; Faculty of Dental Medicine and Health Osijek, Osijek, Croatia., Olujic B; University Hospital Center Osijek, Osijek, Croatia.; Medical Faculty Osijek, Osijek, Croatia., Nađ T; University Hospital Center Osijek, Osijek, Croatia.; Medical Faculty Osijek, Osijek, Croatia., Vinkovic H; University Hospital Center Osijek, Osijek, Croatia.; Medical Faculty Osijek, Osijek, Croatia., Dupan ZK; University Hospital Center Osijek, Osijek, Croatia.; Medical Faculty Osijek, Osijek, Croatia., Hamidović N; University Hospital Center Osijek, Osijek, Croatia., Damašek M; University Hospital Center Osijek, Osijek, Croatia.; Medical Faculty Osijek, Osijek, Croatia., Milas K; University Hospital Center Osijek, Osijek, Croatia., Zubčić Ž; University Hospital Center Osijek, Osijek, Croatia.; Medical Faculty Osijek, Osijek, Croatia., Erić I; University Hospital Center Osijek, Osijek, Croatia.; Medical Faculty Osijek, Osijek, Croatia.
Publikováno v:
Pediatric pulmonology [Pediatr Pulmonol] 2024 Jun; Vol. 59 (6), pp. 1786-1788. Date of Electronic Publication: 2024 Mar 07.
Autor:
Herbst ZM; GelbChem, LLC, Seattle, WA 98195, USA; Department of Chemistry, University of Washington, Seattle, WA 98195, USA., Hold S; ARCHIMED Life Science GmbH, Leberstraße 20, 1110 Vienna, Austria., Gelb MH; GelbChem, LLC, Seattle, WA 98195, USA; Department of Chemistry, University of Washington, Seattle, WA 98195, USA; Department of Biochemistry, University of Washington, Seattle, WA 98195, USA., Khaledi H; GelbChem, LLC, Seattle, WA 98195, USA. Electronic address: hamid@gelbchem.com.
Publikováno v:
Molecular genetics and metabolism [Mol Genet Metab] 2024 Aug; Vol. 142 (4), pp. 108517. Date of Electronic Publication: 2024 Jun 19.
Autor:
Basirli H; İzmir Institute of Technology, Department of Molecular Biology and Genetics, İzmir, Turkey., Can M; İzmir Institute of Technology, Department of Molecular Biology and Genetics, İzmir, Turkey., Sengul T; İzmir Institute of Technology, Department of Molecular Biology and Genetics, İzmir, Turkey., Seyrantepe V; İzmir Institute of Technology, Department of Molecular Biology and Genetics, İzmir, Turkey; İzmir Institute of Technology, IYTEDEHAM, İzmir, Turkey. Electronic address: volkanseyrantepe@iyte.edu.tr.
Publikováno v:
Molecular genetics and metabolism [Mol Genet Metab] 2024 Mar; Vol. 141 (3), pp. 108140. Date of Electronic Publication: 2024 Jan 11.
Autor:
Májovská J; Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital Prague, Prague, Czech Republic., Nestrašil I; Division of Clinical Behavioral Neuroscience, Department of Pediatrics, Medical School, University of Minnesota, Minneapolis, Minnesota, USA., Ahmed A; Advanced Therapies Program, Division of Genetics and Metabolism, Department of Pediatrics, Medical School, University of Minnesota, Minneapolis, Minnesota, USA., Bondy MT; Division of Clinical Behavioral Neuroscience, Department of Pediatrics, Medical School, University of Minnesota, Minneapolis, Minnesota, USA., Klempíř J; Department of Neurology and Center of Clinical Neuroscience, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Jahnová H; Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital Prague, Prague, Czech Republic., Schneider SA; Department of Neurology, LMU University Hospital, LMU Munich, Munich, Germany., Horáková D; Department of Neurology and Center of Clinical Neuroscience, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Krásenský J; Department of Radiology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Ješina P; Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital Prague, Prague, Czech Republic., Vaneckova M; Department of Radiology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Nascene DR; Department of Neuroradiology, Medical School, University of Minnesota, Minneapolis, Minnesota, USA., Whitley CB; Advanced Therapies Program, Division of Genetics and Metabolism, Department of Pediatrics, Medical School, University of Minnesota, Minneapolis, Minnesota, USA.; Gene Therapy and Diagnostic Laboratory, Department of Pediatrics, Medical School, University of Minnesota, Minneapolis, Minnesota, USA.; Department of Experimental and Clinical Pharmacology, University of Minnesota, College of Pharmacy, Minneapolis, Minnesota, USA., Jarnes JR; Advanced Therapies Program, Division of Genetics and Metabolism, Department of Pediatrics, Medical School, University of Minnesota, Minneapolis, Minnesota, USA.; Department of Experimental and Clinical Pharmacology, University of Minnesota, College of Pharmacy, Minneapolis, Minnesota, USA., Magner M; Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital Prague, Prague, Czech Republic., Dušek P; Department of Neurology and Center of Clinical Neuroscience, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Department of Radiology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
Publikováno v:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2024 Mar; Vol. 47 (2), pp. 327-339. Date of Electronic Publication: 2023 Dec 19.
Autor:
Fullam S; Department of Neurology, Tallaght University Hospital, Dublin, Ireland., Togher Z; Department of Neurology, Tallaght University Hospital, Dublin, Ireland., Power A; Department of Neurology, Cork University Hospital, Cork, Ireland., Kennelly L; Department of Neurology, St Vincent's University Hospital, Dublin, Ireland., McHugh JC; Department of Clinical Neurophysiology, Tallaght University Hospital, Dublin, Ireland., O'Dowd S; Department of Neurology, Tallaght University Hospital, Dublin, Ireland.; Academic Unit of Neurology, Trinity College Dublin, Dublin, Ireland., Tubridy N; Department of Neurology, St Vincent's University Hospital, Dublin, Ireland., Hardiman O; Department of Neurology, Beaumont Hospital, Dublin, Ireland., Costigan D; Department of Clinical Neurophysiology, Mater Misericordiae University Hospital, Dublin, Ireland., Ryan A; Department of Neurology, Cork University Hospital, Cork, Ireland., Lefter S; Department of Neurology, Beaumont Hospital, Dublin, Ireland., Connolly S; Department of Clinical Neurophysiology, St Vincent's University Hospital, Dublin, Ireland., Murphy SM; Department of Neurology, Tallaght University Hospital, Dublin, Ireland.; Academic Unit of Neurology, Trinity College Dublin, Dublin, Ireland.
Publikováno v:
European journal of neurology [Eur J Neurol] 2024 Jan; Vol. 31 (1), pp. e16069. Date of Electronic Publication: 2023 Sep 27.
Autor:
Raha S; Department of Neurological Sciences, Rush University Medical Center, Chicago, IL 60612, USA., Dutta D; Department of Neurological Sciences, Rush University Medical Center, Chicago, IL 60612, USA., Paidi RK; Department of Neurological Sciences, Rush University Medical Center, Chicago, IL 60612, USA., Pahan K; Department of Neurological Sciences, Rush University Medical Center, Chicago, IL 60612, USA.; Division of Research and Development, Jesse Brown Veterans Affairs Medical Center, 820 South Damen Avenue, Chicago, IL 60612, USA.
Publikováno v:
Cells [Cells] 2023 Dec 08; Vol. 12 (24). Date of Electronic Publication: 2023 Dec 08.
Publikováno v:
Journal of pediatric ophthalmology and strabismus [J Pediatr Ophthalmol Strabismus] 2023 Nov-Dec; Vol. 60 (6), pp. 435-440. Date of Electronic Publication: 2023 Feb 21.
Autor:
Vyas M; Centre for Neuroscience Studies, Queen's University, Kingston, ON K7L 3N6, Canada., Deschenes NM; Centre for Neuroscience Studies, Queen's University, Kingston, ON K7L 3N6, Canada., Osmon KJL; Centre for Neuroscience Studies, Queen's University, Kingston, ON K7L 3N6, Canada., Chen Z; Department of Biomedical and Molecular Sciences, Queen's University, Kingston, ON K7L 3N6, Canada., Ahmad I; Centre for Neuroscience Studies, Queen's University, Kingston, ON K7L 3N6, Canada., Kot S; Department of Biomedical and Molecular Sciences, Queen's University, Kingston, ON K7L 3N6, Canada., Thompson P; Department of Pediatrics, Queen's University, Kingston, ON K7L 2V7, Canada., Richmond C; Department of Biomedical and Molecular Sciences, Queen's University, Kingston, ON K7L 3N6, Canada., Gray SJ; Department of Pediatrics, UT Southwestern Medical Center, Dallas, TX 75390, USA., Walia JS; Centre for Neuroscience Studies, Queen's University, Kingston, ON K7L 3N6, Canada.; Department of Biomedical and Molecular Sciences, Queen's University, Kingston, ON K7L 3N6, Canada.; Department of Pediatrics, Queen's University, Kingston, ON K7L 2V7, Canada.
Publikováno v:
International journal of molecular sciences [Int J Mol Sci] 2023 Sep 27; Vol. 24 (19). Date of Electronic Publication: 2023 Sep 27.
Autor:
Han ST; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Hirt A; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Nicoli ER; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Kono M; Genetics and Biochemistry Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland, USA., Toro C; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, USA., Proia RL; Genetics and Biochemistry Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland, USA., Tifft CJ; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
Publikováno v:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2023 Jul; Vol. 46 (4), pp. 687-694. Date of Electronic Publication: 2023 Feb 05.