Výsledky vyhledávání - "Betsalel, O. T."

Akademický článek

Characterization of seizures and EEG findings in creatine transporter deficiency due to SLC6A8 mutation.

Autor: Abdennadher M; Boston Medical Center, Boston University Chobanian & Avedisian School of Medicine, Boston, Massachusetts, USA., Inati SK; Neurophysiology of Epilepsy Unit, NINDS, National Institutes of Health, Bethesda, Maryland, USA., Rahhal S; Section on Molecular Dysmorphology, Eunice Kennedy Shriver National Institute of Child Health and Development, National Institutes of Health, Rockville, Maryland, USA., Khan O; Veterans Administration, Washington, District of Columbia, USA., Bartolini L; Hasbro Childrens' Hospital, Brown University, Providence, Rhode Island, USA., Thurm A; Neurodevelopmental and Behavioral Phenotyping Service, NIMH, National Institutes of Health, Bethesda, Maryland, USA., Theodore W; Clinical Epilepsy Section, NINDS, National Institutes of Health, Bethesda, Maryland, USA., Miller JS; Departments of Psychiatry and Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Porter FD; Section on Molecular Dysmorphology, Eunice Kennedy Shriver National Institute of Child Health and Development, National Institutes of Health, Rockville, Maryland, USA., Bianconi S; Eunice Kennedy Shriver National Institute of Child Health and Development, National Institutes of Health, Rockville, Maryland, USA.; Clinical Genetics, Kaiser Permanente Medical Group of Southern California, La Palma, California, USA.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Feb; Vol. 194 (2), pp. 337-345. Date of Electronic Publication: 2023 Oct 18.

Zobrazit plný text záznamu

Akademický článek

Breaking the rules of SLC6 transporters: Export of the human creatine transporter-1 from the endoplasmic reticulum is supported by its N-terminus.

Autor: Ün D; Institute of Pharmacology and the Gaston H. Glock Research Laboratories for Exploratory Drug Development, Centre of Physiology and Pharmacology, Medical University of Vienna, Vienna, Austria., Kovalchuk V; Institute of Pharmacology and the Gaston H. Glock Research Laboratories for Exploratory Drug Development, Centre of Physiology and Pharmacology, Medical University of Vienna, Vienna, Austria., El-Kasaby A; Institute of Pharmacology and the Gaston H. Glock Research Laboratories for Exploratory Drug Development, Centre of Physiology and Pharmacology, Medical University of Vienna, Vienna, Austria., Kasture A; Institute of Pharmacology and the Gaston H. Glock Research Laboratories for Exploratory Drug Development, Centre of Physiology and Pharmacology, Medical University of Vienna, Vienna, Austria.; Department of Neuroscience and Developmental Biology, University of Vienna, Vienna, Austria., Koban F; Institute of Pharmacology and the Gaston H. Glock Research Laboratories for Exploratory Drug Development, Centre of Physiology and Pharmacology, Medical University of Vienna, Vienna, Austria., Kudlacek O; Institute of Pharmacology and the Gaston H. Glock Research Laboratories for Exploratory Drug Development, Centre of Physiology and Pharmacology, Medical University of Vienna, Vienna, Austria., Freissmuth M; Institute of Pharmacology and the Gaston H. Glock Research Laboratories for Exploratory Drug Development, Centre of Physiology and Pharmacology, Medical University of Vienna, Vienna, Austria., Sucic S; Institute of Pharmacology and the Gaston H. Glock Research Laboratories for Exploratory Drug Development, Centre of Physiology and Pharmacology, Medical University of Vienna, Vienna, Austria.

Publikováno v: Journal of neurochemistry [J Neurochem] 2024 Sep; Vol. 168 (9), pp. 2007-2021. Date of Electronic Publication: 2024 Feb 28.

Zobrazit plný text záznamu

Akademický článek

When rare meets common: Treatable genetic diseases are enriched in the general psychiatric population.

Autor: Sriretnakumar V; Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, Canada.; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Canada., Harripaul R; Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, Canada.; Institute of Medical Science, University of Toronto, Toronto, Canada., Kennedy JL; Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, Canada.; Department of Psychiatry, University of Toronto, Toronto, Canada., So J; Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, Canada.; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Canada.; Department of Psychiatry, University of Toronto, Toronto, Canada.; Department of Medicine, University of Toronto, Toronto, Canada.; Division of Medical Genetics, Departments of Medicine and Pediatrics, University of California, San Francisco, California, USA.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Aug; Vol. 194 (8), pp. e63609. Date of Electronic Publication: 2024 Mar 26.

Zobrazit plný text záznamu

Akademický článek

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Akademický článek

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Akademický článek

Relax, Cool Down and Scaffold: How to Restore Surface Expression of Folding-Deficient Mutant GPCRs and SLC6 Transporters.

Autor: Mazhar Asjad, H. M.¹ n1442638@students.meduniwien.ac.at, Nasrollahi-Shirazi, Shahrooz¹ shahrooz.nasrollahishirazi@meduniwien.ac.at, Sucic, Sonja¹ sonja.sucic@meduniwien.ac.at, Freissmuth, Michael¹ michael.freissmuth@meduniwien.ac.at, Nanoff, Christian¹ christian.nanoff@meduniwien.ac.at

Publikováno v: International Journal of Molecular Sciences. Nov2017, Vol. 18 Issue 11, p2416. 15p.

Zobrazit plný text záznamu

Akademický článek

Variability of Creatine Metabolism Genes in Children with Autism Spectrum Disorder.

Autor: Cameron, Jessie M.¹ jessie.cameron@sickkids.ca, Levandovskiy, Valeriy¹ Valeriy.Levandovskiy@sickkids.ca, Roberts, Wendy^2,3 wendy.roberts@sickkids.ca, Anagnostou, Evdokia^2,3 Evdokia.Anagnostou@sickkids.ca, Scherer, Stephen^1,4,5 Stephen.Scherer@sickkids.ca, Loh, Alvin^2,6 Alvin.Loh@SurreyPlace.on.ca, Schulze, Andreas^1,2,7 andreas.schulze@sickkids.ca

Publikováno v: International Journal of Molecular Sciences. Aug2017, Vol. 18 Issue 8, p1665. 19p.

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání