المؤلفون: Sanders K; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, United States of America., Peck D; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, United States of America., Bentz Pino G; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, United States of America., Studinski Jones A; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, United States of America., White A; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, United States of America., Gavrilov D; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, United States of America., Matern D; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, United States of America., Oglesbee D; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, United States of America., Schultz M; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, United States of America., Tortorelli S; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, United States of America., Hall PL; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, United States of America. Electronic address: hall.patricia@mayo.edu.

المصدر: Molecular genetics and metabolism [Mol Genet Metab] 2024 May; Vol. 142 (1), pp. 108455. Date of Electronic Publication: 2024 Mar 24.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE

مواضيع طبية MeSH: Creatine*/*deficiency , Plasma Membrane Neurotransmitter Transport Proteins*/*deficiency, Creatine*/blood , Creatine*/urine , Creatinine*/blood , Creatinine*/urine , Plasma Membrane Neurotransmitter Transport Proteins*/genetics , Plasma Membrane Neurotransmitter Transport Proteins*/blood , Mental Retardation, X-Linked*/genetics , Mental Retardation, X-Linked*/blood , Mental Retardation, X-Linked*/diagnosis , Brain Diseases, Metabolic, Inborn*, Humans ; Male ; Female ; Child ; Child, Preschool ; Nerve Tissue Proteins/genetics ; Nerve Tissue Proteins/blood ; Nerve Tissue Proteins/deficiency ; Infant ; Adolescent ; Membrane Transport Proteins/genetics ; Membrane Transport Proteins/deficiency ; Membrane Transport Proteins/blood ; Adult

SCR Disease Name: Creatine deficiency, X-linked

المؤلفون: Goldstein J; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA., Thomas-Wilson A; New York Genome Center, New York, NY, USA., Groopman E; Children's National Hospital, 111 Michigan Ave NW, Washington, DC, USA., Aggarwal V; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY, USA., Bianconi S; Kaiser Permanente, Southern California Permanente Group, CA, USA., Fernandez R; American College of Medical Genetics and Genomics, Bethesda, MD, USA., Hart K; Newborn Screening Program, Utah Public Health Laboratory, Department of Health and Human Services, Salt Lake City, UT, USA., Longo N; Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT, USA., Liang N; The Hospital for Sick Children, Toronto, Canada., Reich D; Newborn Screening Program, Utah Public Health Laboratory, Department of Health and Human Services, Salt Lake City, UT, USA., Wallis H; Association for Creatine Deficiencies, Carlsbad, CA, USA., Weaver M; American College of Medical Genetics and Genomics, Bethesda, MD, USA., Young S; Department of Pediatrics, Duke University School of Medicine, Durham, NC, USA., Mercimek-Andrews S; Department of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada. Electronic address: saadet@ualberta.ca.

المصدر: Molecular genetics and metabolism [Mol Genet Metab] 2024 May; Vol. 142 (1), pp. 108362. Date of Electronic Publication: 2024 Mar 02.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE

مواضيع طبية MeSH: Creatine*/*deficiency , Plasma Membrane Neurotransmitter Transport Proteins*/*deficiency , Amidinotransferases*/*deficiency, Guanidinoacetate N-Methyltransferase*/deficiency , Guanidinoacetate N-Methyltransferase*/genetics , Creatine*/metabolism , Plasma Membrane Neurotransmitter Transport Proteins*/genetics , Amidinotransferases*/genetics , Amidinotransferases*/metabolism , Language Development Disorders* , Intellectual Disability* , Amino Acid Metabolism, Inborn Errors* , Nerve Tissue Proteins* , Speech Disorders*, Movement Disorders/*congenital, Humans ; Mental Retardation, X-Linked/genetics ; Mental Retardation, X-Linked/diagnosis ; Mutation ; Brain Diseases, Metabolic, Inborn/genetics ; Brain Diseases, Metabolic, Inborn/diagnosis ; Phenotype ; Data Curation ; Developmental Disabilities

SCR Disease Name: Creatine deficiency, X-linked; Guanidinoacetate methyltransferase deficiency; Arginine-Glycine Amidinotransferase Deficiency

المؤلفون: Sonawane S; Brno Epilepsy Center, 1st Department of Neurology, Faculty of Medicine, Masaryk University and St. Annés University Hospital, Brno, Czech Republic; Behavioural and Social Neuroscience Research Group, CEITEC - Central European Institute of Technology Masaryk University, Brno, Czech Republic., Všianský V; Brno Epilepsy Center, Department of Neurology, St. Anne's University Hospital, Faculty of Medicine, Masaryk University, Member of the ERN EpiCARE, Brno, Czech Republic., Brázdil M; Brno Epilepsy Center, 1st Department of Neurology, Faculty of Medicine, Masaryk University and St. Annés University Hospital, Brno, Czech Republic; Behavioural and Social Neuroscience Research Group, CEITEC - Central European Institute of Technology Masaryk University, Brno, Czech Republic. Electronic address: milan.brazdil@fnusa.cz.

المصدر: Epilepsy & behavior : E&B [Epilepsy Behav] 2024 Sep; Vol. 158, pp. 109912. Date of Electronic Publication: 2024 Jun 25.

نوع المنشور: Journal Article; Systematic Review; Review

بيانات الدورية: Publisher: Academic Press Country of Publication: United States NLM ID: 100892858 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1525-5069 (Electronic) Linking ISSN: 15255050 NLM ISO Abbreviation: Epilepsy Behav Subsets: MEDLINE

مواضيع طبية MeSH: Epilepsy*/genetics , Epilepsy*/metabolism , MicroRNAs*/genetics , MicroRNAs*/metabolism , Receptors, Neurotransmitter*/genetics , Receptors, Neurotransmitter*/metabolism, Humans ; Animals

المؤلفون: Wang MF; FTMS Laboratory for Human Health Research, Department of Chemistry, North Carolina State University, Raleigh, NC, USA., Ouyang Y; Department of Biomedical Engineering, Duke University, Durham, NC, USA., Segura T; Department of Biomedical Engineering, Duke University, Durham, NC, USA., Muddiman DC; FTMS Laboratory for Human Health Research, Department of Chemistry, North Carolina State University, Raleigh, NC, USA. dcmuddim@ncsu.edu.

المصدر: Analytical and bioanalytical chemistry [Anal Bioanal Chem] 2024 Jul; Vol. 416 (18), pp. 4207-4218. Date of Electronic Publication: 2024 Jun 01.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 101134327 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1618-2650 (Electronic) Linking ISSN: 16182642 NLM ISO Abbreviation: Anal Bioanal Chem Subsets: MEDLINE

مواضيع طبية MeSH: Neurotransmitter Agents*/analysis , Neurotransmitter Agents*/metabolism , Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization*/methods , Brain*/metabolism, Animals ; Mice ; Mice, Inbred C57BL ; Brain Chemistry

المؤلفون: Zhao T; Department of Pharmacy, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China; National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China., Luo J; Department of Pharmacy, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China; National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China., Liu T; Department of Pharmacy, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, China., Xie K; Department of Pharmacy, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China; National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China., Tang M; Department of Pharmacy, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China; National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China. Electronic address: 4010833@csu.edu.cn.

المصدر: Behavioural brain research [Behav Brain Res] 2024 Sep 13; Vol. 473, pp. 115193. Date of Electronic Publication: 2024 Aug 08.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier/North-Holland Biomedical Press Country of Publication: Netherlands NLM ID: 8004872 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1872-7549 (Electronic) Linking ISSN: 01664328 NLM ISO Abbreviation: Behav Brain Res Subsets: MEDLINE

مواضيع طبية MeSH: Neurotransmitter Agents*/blood , Neurotransmitter Agents*/metabolism , Depressive Disorder, Major*/metabolism , Depressive Disorder, Major*/blood , Cognition*/physiology, Humans ; Female ; Male ; Adult ; Cross-Sectional Studies ; Middle Aged ; Young Adult ; Cognitive Dysfunction/metabolism ; Cognitive Dysfunction/etiology ; Cognitive Dysfunction/physiopathology ; Cognitive Dysfunction/blood ; Neuropsychological Tests

المؤلفون: Minokadeh A; Skin Care and Laser Physicians of Beverly Hills, Los Angeles, California., Cheng C; Skin Matters Medical Aesthetics Centre, Vancouver, British Columbia, Canada., Bertucci V; Private Practice, Woodbridge, Ontario, Canada.; Division of Dermatology, University of Toronto, Toronto, Ontario, Canada.

المصدر: Dermatologic surgery : official publication for American Society for Dermatologic Surgery [et al.] [Dermatol Surg] 2024 Sep 01; Vol. 50 (9S), pp. S97-S102. Date of Electronic Publication: 2024 Jul 31.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Wolters Kluwer Health Country of Publication: United States NLM ID: 9504371 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1524-4725 (Electronic) Linking ISSN: 10760512 NLM ISO Abbreviation: Dermatol Surg Subsets: MEDLINE

مواضيع طبية MeSH: Botulinum Toxins, Type A*/administration & dosage , Botulinum Toxins, Type A*/adverse effects , Neurotransmitter Agents*/administration & dosage , Neurotransmitter Agents*/therapeutic use, Humans ; Cosmetic Techniques ; Face ; Skin Aging/drug effects ; Neuromuscular Agents/administration & dosage ; Neuromuscular Agents/adverse effects ; Body Contouring/methods ; Body Contouring/adverse effects ; Rejuvenation

المؤلفون: Sun L; Institute of Materials Research, Center of Double Helix, Guangdong Provincial Key Laboratory of Thermal Management Engineering and Materials, Tsinghua Shenzhen International Graduate School, Tsinghua University, Shenzhen, 518055, P. R. China., Xu H; Institute of Biopharmaceutical and Health Engineering, Tsinghua Shenzhen International Graduate School, Tsinghua University, Shenzhen, 518055, P. R. China., Bai Y; Institute of Materials Research, Center of Double Helix, Guangdong Provincial Key Laboratory of Thermal Management Engineering and Materials, Tsinghua Shenzhen International Graduate School, Tsinghua University, Shenzhen, 518055, P. R. China., Chang L; Institute of Materials Research, Tsinghua Shenzhen International Graduate School, Tsinghua University, Shenzhen, Guangdong, 518055, P. R. China., Gao J; Institute of Materials Research, Center of Double Helix, Guangdong Provincial Key Laboratory of Thermal Management Engineering and Materials, Tsinghua Shenzhen International Graduate School, Tsinghua University, Shenzhen, 518055, P. R. China., Zhao M; Institute of Materials Research, Center of Double Helix, Guangdong Provincial Key Laboratory of Thermal Management Engineering and Materials, Tsinghua Shenzhen International Graduate School, Tsinghua University, Shenzhen, 518055, P. R. China., Huang AT; Institute of Materials Research, Center of Double Helix, Guangdong Provincial Key Laboratory of Thermal Management Engineering and Materials, Tsinghua Shenzhen International Graduate School, Tsinghua University, Shenzhen, 518055, P. R. China., Ma L; Institute of Biopharmaceutical and Health Engineering, Tsinghua Shenzhen International Graduate School, Tsinghua University, Shenzhen, 518055, P. R. China., Lei Y; Institute of Materials Research, Center of Double Helix, Guangdong Provincial Key Laboratory of Thermal Management Engineering and Materials, Tsinghua Shenzhen International Graduate School, Tsinghua University, Shenzhen, 518055, P. R. China., Kang F; Shenzhen All-Solid-State Lithium Battery Electrolyte Engineering Research Center and Shenzhen Geim Graphene Center, Institute of Materials Research (IMR), Tsinghua Shenzhen International Graduate School, Tsinghua University, Shenzhen, 518055, P. R. China.; Laboratory of Advanced Materials, School of Materials Science and Engineering, Tsinghua University, Beijing, 100084, P. R. China., Terrones M; Department of Physics, Department of Chemistry, Department of Materials Sciences, Center for 2-Dimensional and Layered Materials, The Pennsylvania State University, University Park, PA, 16802, USA.; Research Initiative for Supra-Materials, Shinshu University, Nagano, 380-8553, Japan.

المصدر: Small (Weinheim an der Bergstrasse, Germany) [Small] 2024 Sep; Vol. 20 (39), pp. e2307410. Date of Electronic Publication: 2024 May 22.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley-VCH Country of Publication: Germany NLM ID: 101235338 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1613-6829 (Electronic) Linking ISSN: 16136810 NLM ISO Abbreviation: Small Subsets: MEDLINE

مواضيع طبية MeSH: Neurotransmitter Agents*/metabolism , Disulfides*/chemistry , Molybdenum*/chemistry , Brain*/metabolism , Serotonin*/metabolism , Serotonin*/chemistry , Vanadium*/chemistry

المؤلفون: Huang W; Department of Radiology, The First Affiliated Hospital of Anhui Medical University, Hefei, 230022, China.; Research Center of Clinical Medical Imaging, Anhui Province, Hefei, 230032, China.; Anhui Provincial Institute of Translational Medicine, Hefei, 230032, China.; Anhui Provincial Key Laboratory for Brain Bank Construction and Resource Utilization, Hefei, 230032, China., Sun X; Department of Radiology, The First Affiliated Hospital of Anhui Medical University, Hefei, 230022, China.; Research Center of Clinical Medical Imaging, Anhui Province, Hefei, 230032, China.; Anhui Provincial Institute of Translational Medicine, Hefei, 230032, China.; Anhui Provincial Key Laboratory for Brain Bank Construction and Resource Utilization, Hefei, 230032, China., Zhang X; Department of Radiology, The First Affiliated Hospital of Anhui Medical University, Hefei, 230022, China.; Research Center of Clinical Medical Imaging, Anhui Province, Hefei, 230032, China.; Anhui Provincial Institute of Translational Medicine, Hefei, 230032, China.; Anhui Provincial Key Laboratory for Brain Bank Construction and Resource Utilization, Hefei, 230032, China., Xu R; Department of Radiology, The First Affiliated Hospital of Anhui Medical University, Hefei, 230022, China.; Research Center of Clinical Medical Imaging, Anhui Province, Hefei, 230032, China.; Anhui Provincial Institute of Translational Medicine, Hefei, 230032, China.; Anhui Provincial Key Laboratory for Brain Bank Construction and Resource Utilization, Hefei, 230032, China., Qian Y; Department of Radiology, The First Affiliated Hospital of Anhui Medical University, Hefei, 230022, China. liangminqyf@sohu.com.; Research Center of Clinical Medical Imaging, Anhui Province, Hefei, 230032, China. liangminqyf@sohu.com.; Anhui Provincial Institute of Translational Medicine, Hefei, 230032, China. liangminqyf@sohu.com.; Anhui Provincial Key Laboratory for Brain Bank Construction and Resource Utilization, Hefei, 230032, China. liangminqyf@sohu.com., Zhu J; Department of Radiology, The First Affiliated Hospital of Anhui Medical University, Hefei, 230022, China. zhujiajiagraduate@163.com.; Research Center of Clinical Medical Imaging, Anhui Province, Hefei, 230032, China. zhujiajiagraduate@163.com.; Anhui Provincial Institute of Translational Medicine, Hefei, 230032, China. zhujiajiagraduate@163.com.; Anhui Provincial Key Laboratory for Brain Bank Construction and Resource Utilization, Hefei, 230032, China. zhujiajiagraduate@163.com.

المصدر: Molecular neurobiology [Mol Neurobiol] 2024 Sep; Vol. 61 (9), pp. 6407-6422. Date of Electronic Publication: 2024 Feb 03.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Humana Press Country of Publication: United States NLM ID: 8900963 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1559-1182 (Electronic) Linking ISSN: 08937648 NLM ISO Abbreviation: Mol Neurobiol Subsets: MEDLINE

مواضيع طبية MeSH: Neurotransmitter Agents*/metabolism , Urbanization* , Brain*/metabolism , Brain*/diagnostic imaging , Magnetic Resonance Imaging*, Humans ; Female ; Male ; Young Adult ; Behavior/physiology ; Adult ; Atlases as Topic ; Gene Expression ; Gray Matter/diagnostic imaging ; Gray Matter/metabolism ; Brain Mapping

المؤلفون: Tauer K; University of Cincinnati College of Medicine., Theile C; University of Cincinnati College of Medicine., Owens JW; Division of Human Genetics, Cincinnati Children's Hospital Medical Center.; Department of Pediatrics, University of Cincinnati College of Medicine., Cecil KM; Department of Radiology, Cincinnati Children's Hospital Medical Center.; Department of Radiology, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA., Shillington A; Division of Human Genetics, Cincinnati Children's Hospital Medical Center.; Department of Pediatrics, University of Cincinnati College of Medicine.

المصدر: Psychiatric genetics [Psychiatr Genet] 2024 Aug 01; Vol. 34 (4), pp. 86-90. Date of Electronic Publication: 2024 Jun 04.

نوع المنشور: Journal Article; Case Reports

بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: England NLM ID: 9106748 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1473-5873 (Electronic) Linking ISSN: 09558829 NLM ISO Abbreviation: Psychiatr Genet Subsets: MEDLINE

مواضيع طبية MeSH: Creatine*/metabolism , Creatine*/deficiency , Glycine*/metabolism , Arginine*/metabolism , Arginine*/therapeutic use , Dietary Supplements* , Mental Retardation, X-Linked*/genetics , Mental Retardation, X-Linked*/drug therapy , Mental Retardation, X-Linked*/metabolism , Plasma Membrane Neurotransmitter Transport Proteins*/deficiency , Plasma Membrane Neurotransmitter Transport Proteins*/genetics , Plasma Membrane Neurotransmitter Transport Proteins*/metabolism, Humans ; Female ; Brain/metabolism ; Adult ; Nerve Tissue Proteins/metabolism ; Nerve Tissue Proteins/genetics ; Magnetic Resonance Spectroscopy ; Intellectual Disability/genetics ; Intellectual Disability/metabolism ; Intellectual Disability/drug therapy ; Brain Diseases, Metabolic, Inborn ; Membrane Transport Proteins

SCR Disease Name: Creatine deficiency, X-linked

المؤلفون: Wang D; School of Pharmacy, Henan University of Chinese Medicine, Zhengzhou 450046, China., Wu T; School of Pharmacy, Henan University of Chinese Medicine, Zhengzhou 450046, China., Jin J; School of Pharmacy, Henan University of Chinese Medicine, Zhengzhou 450046, China., Si Y; School of Pharmacy, Henan University of Chinese Medicine, Zhengzhou 450046, China.; Henan Engineering Research Center of Medicinal and Edible Chinese Medicine Technology, Zhengzhou 450046, China., Wang Y; Bencao Academy, Henan University of Chinese Medicine, Zhengzhou 450046, China., Ding X; Bencao Academy, Henan University of Chinese Medicine, Zhengzhou 450046, China., Guo T; School of Pharmacy, Henan University of Chinese Medicine, Zhengzhou 450046, China.; Henan Engineering Research Center of Medicinal and Edible Chinese Medicine Technology, Zhengzhou 450046, China., Wei W; School of Pharmacy, Henan University of Chinese Medicine, Zhengzhou 450046, China.; Henan Engineering Research Center of Medicinal and Edible Chinese Medicine Technology, Zhengzhou 450046, China.

المصدر: Molecules (Basel, Switzerland) [Molecules] 2024 Jul 31; Vol. 29 (15). Date of Electronic Publication: 2024 Jul 31.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 100964009 Publication Model: Electronic Cited Medium: Internet ISSN: 1420-3049 (Electronic) Linking ISSN: 14203049 NLM ISO Abbreviation: Molecules Subsets: MEDLINE

مواضيع طبية MeSH: Sleep Initiation and Maintenance Disorders*/drug therapy , Sleep Initiation and Maintenance Disorders*/metabolism , Sleep Initiation and Maintenance Disorders*/chemically induced , Dopamine*/metabolism , Dopamine*/analogs & derivatives , Molecular Docking Simulation* , Neurotransmitter Agents*/metabolism , Neurotransmitter Agents*/chemistry , Neurotransmitter Agents*/pharmacology, Animals ; Rats ; Male ; Sleep/drug effects ; Disease Models, Animal ; Molecular Dynamics Simulation ; Rats, Sprague-Dawley ; Receptor, Serotonin, 5-HT1A/metabolism ; Plant Extracts/pharmacology ; Plant Extracts/chemistry ; Brain-Derived Neurotrophic Factor/metabolism