Zobrazeno 1 - 10
of 1 942
pro vyhledávání: '"Sandhoff Disease"'
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:
Kern J; From the Department of Neuropediatrics (J.K., J.B., V.S., S. Groeschel, I.K.-M.), Developmental Neurology and Social Pediatrics, University of Tübingen; Department of Neurology and Center for Translational Neuro- and Behavioral Sciences (C-TNBS) (D.T.), University Hospital Essen, University of Duisburg-Essen; Department of Neuropediatrics (R.T.), Friedrich-Alexander University of Erlangen-Nürnberg; Department of Neurology (C.S.), Friedrich-Baur-Institute, University Hospital LMU, Munich; Department of Neurology (C.K.), University of Rostock; Department of Pediatrics (M.R.), University of Göttingen; Institute of Medical Genetics and Applied Genomics (S.B.-W.), University of Tübingen; Institute of Diagnostic and Interventional Radiology and Neuroradiology (S. Göricke), Essen University Hospital, University of Duisburg-Essen; and Research Division Translational Genomics of Neurodegenerative Diseases (M.S.), Center for Neurology & Hertie-Institute for Clinical Brain Research, University of Tübingen; German Center for Neurodegenerative Diseases, Germany., Böhringer J; From the Department of Neuropediatrics (J.K., J.B., V.S., S. Groeschel, I.K.-M.), Developmental Neurology and Social Pediatrics, University of Tübingen; Department of Neurology and Center for Translational Neuro- and Behavioral Sciences (C-TNBS) (D.T.), University Hospital Essen, University of Duisburg-Essen; Department of Neuropediatrics (R.T.), Friedrich-Alexander University of Erlangen-Nürnberg; Department of Neurology (C.S.), Friedrich-Baur-Institute, University Hospital LMU, Munich; Department of Neurology (C.K.), University of Rostock; Department of Pediatrics (M.R.), University of Göttingen; Institute of Medical Genetics and Applied Genomics (S.B.-W.), University of Tübingen; Institute of Diagnostic and Interventional Radiology and Neuroradiology (S. Göricke), Essen University Hospital, University of Duisburg-Essen; and Research Division Translational Genomics of Neurodegenerative Diseases (M.S.), Center for Neurology & Hertie-Institute for Clinical Brain Research, University of Tübingen; German Center for Neurodegenerative Diseases, Germany., Timmann D; From the Department of Neuropediatrics (J.K., J.B., V.S., S. Groeschel, I.K.-M.), Developmental Neurology and Social Pediatrics, University of Tübingen; Department of Neurology and Center for Translational Neuro- and Behavioral Sciences (C-TNBS) (D.T.), University Hospital Essen, University of Duisburg-Essen; Department of Neuropediatrics (R.T.), Friedrich-Alexander University of Erlangen-Nürnberg; Department of Neurology (C.S.), Friedrich-Baur-Institute, University Hospital LMU, Munich; Department of Neurology (C.K.), University of Rostock; Department of Pediatrics (M.R.), University of Göttingen; Institute of Medical Genetics and Applied Genomics (S.B.-W.), University of Tübingen; Institute of Diagnostic and Interventional Radiology and Neuroradiology (S. Göricke), Essen University Hospital, University of Duisburg-Essen; and Research Division Translational Genomics of Neurodegenerative Diseases (M.S.), Center for Neurology & Hertie-Institute for Clinical Brain Research, University of Tübingen; German Center for Neurodegenerative Diseases, Germany., Trollmann R; From the Department of Neuropediatrics (J.K., J.B., V.S., S. Groeschel, I.K.-M.), Developmental Neurology and Social Pediatrics, University of Tübingen; Department of Neurology and Center for Translational Neuro- and Behavioral Sciences (C-TNBS) (D.T.), University Hospital Essen, University of Duisburg-Essen; Department of Neuropediatrics (R.T.), Friedrich-Alexander University of Erlangen-Nürnberg; Department of Neurology (C.S.), Friedrich-Baur-Institute, University Hospital LMU, Munich; Department of Neurology (C.K.), University of Rostock; Department of Pediatrics (M.R.), University of Göttingen; Institute of Medical Genetics and Applied Genomics (S.B.-W.), University of Tübingen; Institute of Diagnostic and Interventional Radiology and Neuroradiology (S. Göricke), Essen University Hospital, University of Duisburg-Essen; and Research Division Translational Genomics of Neurodegenerative Diseases (M.S.), Center for Neurology & Hertie-Institute for Clinical Brain Research, University of Tübingen; German Center for Neurodegenerative Diseases, Germany., Stendel C; From the Department of Neuropediatrics (J.K., J.B., V.S., S. Groeschel, I.K.-M.), Developmental Neurology and Social Pediatrics, University of Tübingen; Department of Neurology and Center for Translational Neuro- and Behavioral Sciences (C-TNBS) (D.T.), University Hospital Essen, University of Duisburg-Essen; Department of Neuropediatrics (R.T.), Friedrich-Alexander University of Erlangen-Nürnberg; Department of Neurology (C.S.), Friedrich-Baur-Institute, University Hospital LMU, Munich; Department of Neurology (C.K.), University of Rostock; Department of Pediatrics (M.R.), University of Göttingen; Institute of Medical Genetics and Applied Genomics (S.B.-W.), University of Tübingen; Institute of Diagnostic and Interventional Radiology and Neuroradiology (S. Göricke), Essen University Hospital, University of Duisburg-Essen; and Research Division Translational Genomics of Neurodegenerative Diseases (M.S.), Center for Neurology & Hertie-Institute for Clinical Brain Research, University of Tübingen; German Center for Neurodegenerative Diseases, Germany., Kamm C; From the Department of Neuropediatrics (J.K., J.B., V.S., S. Groeschel, I.K.-M.), Developmental Neurology and Social Pediatrics, University of Tübingen; Department of Neurology and Center for Translational Neuro- and Behavioral Sciences (C-TNBS) (D.T.), University Hospital Essen, University of Duisburg-Essen; Department of Neuropediatrics (R.T.), Friedrich-Alexander University of Erlangen-Nürnberg; Department of Neurology (C.S.), Friedrich-Baur-Institute, University Hospital LMU, Munich; Department of Neurology (C.K.), University of Rostock; Department of Pediatrics (M.R.), University of Göttingen; Institute of Medical Genetics and Applied Genomics (S.B.-W.), University of Tübingen; Institute of Diagnostic and Interventional Radiology and Neuroradiology (S. Göricke), Essen University Hospital, University of Duisburg-Essen; and Research Division Translational Genomics of Neurodegenerative Diseases (M.S.), Center for Neurology & Hertie-Institute for Clinical Brain Research, University of Tübingen; German Center for Neurodegenerative Diseases, Germany., Röbl M; From the Department of Neuropediatrics (J.K., J.B., V.S., S. Groeschel, I.K.-M.), Developmental Neurology and Social Pediatrics, University of Tübingen; Department of Neurology and Center for Translational Neuro- and Behavioral Sciences (C-TNBS) (D.T.), University Hospital Essen, University of Duisburg-Essen; Department of Neuropediatrics (R.T.), Friedrich-Alexander University of Erlangen-Nürnberg; Department of Neurology (C.S.), Friedrich-Baur-Institute, University Hospital LMU, Munich; Department of Neurology (C.K.), University of Rostock; Department of Pediatrics (M.R.), University of Göttingen; Institute of Medical Genetics and Applied Genomics (S.B.-W.), University of Tübingen; Institute of Diagnostic and Interventional Radiology and Neuroradiology (S. Göricke), Essen University Hospital, University of Duisburg-Essen; and Research Division Translational Genomics of Neurodegenerative Diseases (M.S.), Center for Neurology & Hertie-Institute for Clinical Brain Research, University of Tübingen; German Center for Neurodegenerative Diseases, Germany., Santhanakumaran V; From the Department of Neuropediatrics (J.K., J.B., V.S., S. Groeschel, I.K.-M.), Developmental Neurology and Social Pediatrics, University of Tübingen; Department of Neurology and Center for Translational Neuro- and Behavioral Sciences (C-TNBS) (D.T.), University Hospital Essen, University of Duisburg-Essen; Department of Neuropediatrics (R.T.), Friedrich-Alexander University of Erlangen-Nürnberg; Department of Neurology (C.S.), Friedrich-Baur-Institute, University Hospital LMU, Munich; Department of Neurology (C.K.), University of Rostock; Department of Pediatrics (M.R.), University of Göttingen; Institute of Medical Genetics and Applied Genomics (S.B.-W.), University of Tübingen; Institute of Diagnostic and Interventional Radiology and Neuroradiology (S. Göricke), Essen University Hospital, University of Duisburg-Essen; and Research Division Translational Genomics of Neurodegenerative Diseases (M.S.), Center for Neurology & Hertie-Institute for Clinical Brain Research, University of Tübingen; German Center for Neurodegenerative Diseases, Germany., Groeschel S; From the Department of Neuropediatrics (J.K., J.B., V.S., S. Groeschel, I.K.-M.), Developmental Neurology and Social Pediatrics, University of Tübingen; Department of Neurology and Center for Translational Neuro- and Behavioral Sciences (C-TNBS) (D.T.), University Hospital Essen, University of Duisburg-Essen; Department of Neuropediatrics (R.T.), Friedrich-Alexander University of Erlangen-Nürnberg; Department of Neurology (C.S.), Friedrich-Baur-Institute, University Hospital LMU, Munich; Department of Neurology (C.K.), University of Rostock; Department of Pediatrics (M.R.), University of Göttingen; Institute of Medical Genetics and Applied Genomics (S.B.-W.), University of Tübingen; Institute of Diagnostic and Interventional Radiology and Neuroradiology (S. Göricke), Essen University Hospital, University of Duisburg-Essen; and Research Division Translational Genomics of Neurodegenerative Diseases (M.S.), Center for Neurology & Hertie-Institute for Clinical Brain Research, University of Tübingen; German Center for Neurodegenerative Diseases, Germany., Beck-Wödl S; From the Department of Neuropediatrics (J.K., J.B., V.S., S. Groeschel, I.K.-M.), Developmental Neurology and Social Pediatrics, University of Tübingen; Department of Neurology and Center for Translational Neuro- and Behavioral Sciences (C-TNBS) (D.T.), University Hospital Essen, University of Duisburg-Essen; Department of Neuropediatrics (R.T.), Friedrich-Alexander University of Erlangen-Nürnberg; Department of Neurology (C.S.), Friedrich-Baur-Institute, University Hospital LMU, Munich; Department of Neurology (C.K.), University of Rostock; Department of Pediatrics (M.R.), University of Göttingen; Institute of Medical Genetics and Applied Genomics (S.B.-W.), University of Tübingen; Institute of Diagnostic and Interventional Radiology and Neuroradiology (S. Göricke), Essen University Hospital, University of Duisburg-Essen; and Research Division Translational Genomics of Neurodegenerative Diseases (M.S.), Center for Neurology & Hertie-Institute for Clinical Brain Research, University of Tübingen; German Center for Neurodegenerative Diseases, Germany., Göricke S; From the Department of Neuropediatrics (J.K., J.B., V.S., S. Groeschel, I.K.-M.), Developmental Neurology and Social Pediatrics, University of Tübingen; Department of Neurology and Center for Translational Neuro- and Behavioral Sciences (C-TNBS) (D.T.), University Hospital Essen, University of Duisburg-Essen; Department of Neuropediatrics (R.T.), Friedrich-Alexander University of Erlangen-Nürnberg; Department of Neurology (C.S.), Friedrich-Baur-Institute, University Hospital LMU, Munich; Department of Neurology (C.K.), University of Rostock; Department of Pediatrics (M.R.), University of Göttingen; Institute of Medical Genetics and Applied Genomics (S.B.-W.), University of Tübingen; Institute of Diagnostic and Interventional Radiology and Neuroradiology (S. Göricke), Essen University Hospital, University of Duisburg-Essen; and Research Division Translational Genomics of Neurodegenerative Diseases (M.S.), Center for Neurology & Hertie-Institute for Clinical Brain Research, University of Tübingen; German Center for Neurodegenerative Diseases, Germany., Krägeloh-Mann I; From the Department of Neuropediatrics (J.K., J.B., V.S., S. Groeschel, I.K.-M.), Developmental Neurology and Social Pediatrics, University of Tübingen; Department of Neurology and Center for Translational Neuro- and Behavioral Sciences (C-TNBS) (D.T.), University Hospital Essen, University of Duisburg-Essen; Department of Neuropediatrics (R.T.), Friedrich-Alexander University of Erlangen-Nürnberg; Department of Neurology (C.S.), Friedrich-Baur-Institute, University Hospital LMU, Munich; Department of Neurology (C.K.), University of Rostock; Department of Pediatrics (M.R.), University of Göttingen; Institute of Medical Genetics and Applied Genomics (S.B.-W.), University of Tübingen; Institute of Diagnostic and Interventional Radiology and Neuroradiology (S. Göricke), Essen University Hospital, University of Duisburg-Essen; and Research Division Translational Genomics of Neurodegenerative Diseases (M.S.), Center for Neurology & Hertie-Institute for Clinical Brain Research, University of Tübingen; German Center for Neurodegenerative Diseases, Germany., Synofzik M; From the Department of Neuropediatrics (J.K., J.B., V.S., S. Groeschel, I.K.-M.), Developmental Neurology and Social Pediatrics, University of Tübingen; Department of Neurology and Center for Translational Neuro- and Behavioral Sciences (C-TNBS) (D.T.), University Hospital Essen, University of Duisburg-Essen; Department of Neuropediatrics (R.T.), Friedrich-Alexander University of Erlangen-Nürnberg; Department of Neurology (C.S.), Friedrich-Baur-Institute, University Hospital LMU, Munich; Department of Neurology (C.K.), University of Rostock; Department of Pediatrics (M.R.), University of Göttingen; Institute of Medical Genetics and Applied Genomics (S.B.-W.), University of Tübingen; Institute of Diagnostic and Interventional Radiology and Neuroradiology (S. Göricke), Essen University Hospital, University of Duisburg-Essen; and Research Division Translational Genomics of Neurodegenerative Diseases (M.S.), Center for Neurology & Hertie-Institute for Clinical Brain Research, University of Tübingen; German Center for Neurodegenerative Diseases, Germany.
Publikováno v:
Neurology [Neurology] 2024 Jan 09; Vol. 102 (1), pp. e207898. Date of Electronic Publication: 2023 Dec 12.
Autor:
Johnson AK; Department of Clinical Sciences, College of Veterinary Medicine, Auburn University, Auburn, Alabama, USA., McCurdy VJ; Scott-Ritchey Research Center, College of Veterinary Medicine, Auburn University, Auburn, Alabama, USA.; Department of Anatomy, Physiology & Pharmacology, College of Veterinary Medicine, Auburn University, Auburn, Alabama, USA., Gray-Edwards HL; Scott-Ritchey Research Center, College of Veterinary Medicine, Auburn University, Auburn, Alabama, USA., Maguire AS; Scott-Ritchey Research Center, College of Veterinary Medicine, Auburn University, Auburn, Alabama, USA.; Department of Anatomy, Physiology & Pharmacology, College of Veterinary Medicine, Auburn University, Auburn, Alabama, USA., Cochran JN; Scott-Ritchey Research Center, College of Veterinary Medicine, Auburn University, Auburn, Alabama, USA., Gross AL; Scott-Ritchey Research Center, College of Veterinary Medicine, Auburn University, Auburn, Alabama, USA.; Department of Anatomy, Physiology & Pharmacology, College of Veterinary Medicine, Auburn University, Auburn, Alabama, USA., Skinner HE; Scott-Ritchey Research Center, College of Veterinary Medicine, Auburn University, Auburn, Alabama, USA., Randle AN; Scott-Ritchey Research Center, College of Veterinary Medicine, Auburn University, Auburn, Alabama, USA., Shirley JL; Scott-Ritchey Research Center, College of Veterinary Medicine, Auburn University, Auburn, Alabama, USA., Brunson BL; Department of Anatomy, Physiology & Pharmacology, College of Veterinary Medicine, Auburn University, Auburn, Alabama, USA., Bradbury AM; Scott-Ritchey Research Center, College of Veterinary Medicine, Auburn University, Auburn, Alabama, USA.; Department of Anatomy, Physiology & Pharmacology, College of Veterinary Medicine, Auburn University, Auburn, Alabama, USA., Leroy SG; Department of Neurology and Gene Therapy Center, University of Massachusetts Medical School, Worcester, Massachusetts, USA., Hwang M; Scott-Ritchey Research Center, College of Veterinary Medicine, Auburn University, Auburn, Alabama, USA., Rockwell HE; Biology Department, Boston College, Chestnut Hill, Massachusetts, USA., Cox NR; Scott-Ritchey Research Center, College of Veterinary Medicine, Auburn University, Auburn, Alabama, USA.; Department of Pathobiology, College of Veterinary Medicine, Auburn University, Auburn, Alabama, USA., Baker HJ; Scott-Ritchey Research Center, College of Veterinary Medicine, Auburn University, Auburn, Alabama, USA.; Department of Pathobiology, College of Veterinary Medicine, Auburn University, Auburn, Alabama, USA., Seyfried TN; Biology Department, Boston College, Chestnut Hill, Massachusetts, USA., Sena-Esteves M; Department of Neurology and Gene Therapy Center, University of Massachusetts Medical School, Worcester, Massachusetts, USA., Martin DR; Scott-Ritchey Research Center, College of Veterinary Medicine, Auburn University, Auburn, Alabama, USA.; Department of Anatomy, Physiology & Pharmacology, College of Veterinary Medicine, Auburn University, Auburn, Alabama, USA.
Publikováno v:
Annals of neurology [Ann Neurol] 2023 Nov; Vol. 94 (5), pp. 969-986. Date of Electronic Publication: 2023 Aug 16.
Autor:
Yin JH; Beijing Tiantan Hospital, China National Clinical Research Center for Neurological Diseases, Capital Medical University, Beijing, 100070, PR China.; Department of Neurology, Beijing Tiantan Hospital, Capital Medical University, Beijing, 100070, PR China., Hu WZ; Beijing Tiantan Hospital, China National Clinical Research Center for Neurological Diseases, Capital Medical University, Beijing, 100070, PR China.; Department of Neurology, Beijing Tiantan Hospital, Capital Medical University, Beijing, 100070, PR China., Huang Y; Beijing Tiantan Hospital, China National Clinical Research Center for Neurological Diseases, Capital Medical University, Beijing, 100070, PR China. yue.huang@ncrcnd.org.cn.; Department of Neurology, Beijing Tiantan Hospital, Capital Medical University, Beijing, 100070, PR China. yue.huang@ncrcnd.org.cn.; Pharmacology Department, School of Biomedical Sciences, Faculty of Medicine and Health, UNSW Sydney, Sydney, 2032, Australia. yue.huang@ncrcnd.org.cn.
Publikováno v:
BMC neurology [BMC Neurol] 2023 Jun 21; Vol. 23 (1), pp. 240. Date of Electronic Publication: 2023 Jun 21.
Autor:
Kissell J; Sanofi, Cambridge, MA, USA. Electronic address: julie.kissell@sanofi.com., Rochmann C; Sanofi, Gentilly, France., Minini P; Sanofi, Gentilly, France., Eichler F; NTSAD Association, Brookline, MA, USA., Stephen CD; NTSAD Association, Brookline, MA, USA., Lau H; New York University Medical Center, New York, NY, USA., Toro C; National Institutes of Health, Bethesda, MD, USA., Johnston JM; National Institutes of Health, Bethesda, MD, USA., Krupnick R; IQVIA, Boston, MA, USA., Hamed A; Sanofi, Cambridge, MA, USA., Cox GF; NTSAD Association, Brookline, MA, USA; Gerald Cox Rare Care Consulting, LLC, Needham, MA, USA.
Publikováno v:
Molecular genetics and metabolism [Mol Genet Metab] 2024 Jul; Vol. 142 (3), pp. 108512. Date of Electronic Publication: 2024 Jun 06.
Autor:
Xie H; Diagnosis and Treatment Center for Children, Affiliated Hospital of Changchun University of Chinese Medicine, Changchun, China., Lin S; Diagnosis and Treatment Center for Children, Affiliated Hospital of Changchun University of Chinese Medicine, Changchun, China., Chen Y; Diagnosis and Treatment Center for Children, Affiliated Hospital of Changchun University of Chinese Medicine, Changchun, China., Wang W; Changchun University of Chinese Medicine, Changchun, China., Qi Y; Changchun University of Chinese Medicine, Changchun, China., Li J; Changchun University of Chinese Medicine, Changchun, China., Chen Q; Changchun University of Chinese Medicine, Changchun, China., Feng X; Diagnosis and Treatment Center for Children, Affiliated Hospital of Changchun University of Chinese Medicine, Changchun, China.
Publikováno v:
Medicine [Medicine (Baltimore)] 2023 Jun 16; Vol. 102 (24), pp. e33890.
Autor:
Martakis K; From the Department of Pediatric Neurology (K.M., Andreas Hahn), University Children's Hospital (UKGM) and Medical Faculty, Justus Liebig University of Giessen, Giessen, Germany; Department of Pediatrics (K.M.), Medical Faculty and University Hospital, University of Cologne, Cologne, Germa; Department of Neurology (J.C.), Essen University Hospital, University of Duisburg-Essen, Germany; Department of Neurocritical Care, Neurological and Neurosurgical First Stage Rehabilitation and Weaning, MediClin Klinik Reichshof, Germany; Department of Neurologic Diseases and Neurogenetics (J.G.-B.), Institut D'Investigació Biomèdica de Bellvitge, Barcelona, Spain; Department of Neurology (N.G., Anita Hennig, S.S.), Ludwig Maximilian University of Munich, Germany; Department of Neurology (Anhar Hassan), Mayo Clinic, Rochester, MN, United States; Willink Unit (S.J.), Manchester Centre for Genomic Medicine, Royal Manchester Children's Hospital, University of Manchester, United Kingdom; RK Statistics, Brook House, Mesne Lane, Bakewell DE45 1AL, United Kingdom 9. Division of Neurogenetics, New York University Langone, NY, United States; Department of Neurology (H.L.), New York University Langone School of Medicine, NY, United States; Department of Neurology (S.P.), University of California Los Angeles, CA, United States; Department of Adult Metabolic Medicine (R.S.), Salford Royal Foundation NHS Trust, United Kingdom; and Department of Neurology (T.B.-E.), University Hospital Bern (Inselspital), Switzerland. kyriakos.martakis@paediat.med.uni-giessen.de., Claassen J; From the Department of Pediatric Neurology (K.M., Andreas Hahn), University Children's Hospital (UKGM) and Medical Faculty, Justus Liebig University of Giessen, Giessen, Germany; Department of Pediatrics (K.M.), Medical Faculty and University Hospital, University of Cologne, Cologne, Germa; Department of Neurology (J.C.), Essen University Hospital, University of Duisburg-Essen, Germany; Department of Neurocritical Care, Neurological and Neurosurgical First Stage Rehabilitation and Weaning, MediClin Klinik Reichshof, Germany; Department of Neurologic Diseases and Neurogenetics (J.G.-B.), Institut D'Investigació Biomèdica de Bellvitge, Barcelona, Spain; Department of Neurology (N.G., Anita Hennig, S.S.), Ludwig Maximilian University of Munich, Germany; Department of Neurology (Anhar Hassan), Mayo Clinic, Rochester, MN, United States; Willink Unit (S.J.), Manchester Centre for Genomic Medicine, Royal Manchester Children's Hospital, University of Manchester, United Kingdom; RK Statistics, Brook House, Mesne Lane, Bakewell DE45 1AL, United Kingdom 9. Division of Neurogenetics, New York University Langone, NY, United States; Department of Neurology (H.L.), New York University Langone School of Medicine, NY, United States; Department of Neurology (S.P.), University of California Los Angeles, CA, United States; Department of Adult Metabolic Medicine (R.S.), Salford Royal Foundation NHS Trust, United Kingdom; and Department of Neurology (T.B.-E.), University Hospital Bern (Inselspital), Switzerland., Gascon-Bayari J; From the Department of Pediatric Neurology (K.M., Andreas Hahn), University Children's Hospital (UKGM) and Medical Faculty, Justus Liebig University of Giessen, Giessen, Germany; Department of Pediatrics (K.M.), Medical Faculty and University Hospital, University of Cologne, Cologne, Germa; Department of Neurology (J.C.), Essen University Hospital, University of Duisburg-Essen, Germany; Department of Neurocritical Care, Neurological and Neurosurgical First Stage Rehabilitation and Weaning, MediClin Klinik Reichshof, Germany; Department of Neurologic Diseases and Neurogenetics (J.G.-B.), Institut D'Investigació Biomèdica de Bellvitge, Barcelona, Spain; Department of Neurology (N.G., Anita Hennig, S.S.), Ludwig Maximilian University of Munich, Germany; Department of Neurology (Anhar Hassan), Mayo Clinic, Rochester, MN, United States; Willink Unit (S.J.), Manchester Centre for Genomic Medicine, Royal Manchester Children's Hospital, University of Manchester, United Kingdom; RK Statistics, Brook House, Mesne Lane, Bakewell DE45 1AL, United Kingdom 9. Division of Neurogenetics, New York University Langone, NY, United States; Department of Neurology (H.L.), New York University Langone School of Medicine, NY, United States; Department of Neurology (S.P.), University of California Los Angeles, CA, United States; Department of Adult Metabolic Medicine (R.S.), Salford Royal Foundation NHS Trust, United Kingdom; and Department of Neurology (T.B.-E.), University Hospital Bern (Inselspital), Switzerland., Goldschagg N; From the Department of Pediatric Neurology (K.M., Andreas Hahn), University Children's Hospital (UKGM) and Medical Faculty, Justus Liebig University of Giessen, Giessen, Germany; Department of Pediatrics (K.M.), Medical Faculty and University Hospital, University of Cologne, Cologne, Germa; Department of Neurology (J.C.), Essen University Hospital, University of Duisburg-Essen, Germany; Department of Neurocritical Care, Neurological and Neurosurgical First Stage Rehabilitation and Weaning, MediClin Klinik Reichshof, Germany; Department of Neurologic Diseases and Neurogenetics (J.G.-B.), Institut D'Investigació Biomèdica de Bellvitge, Barcelona, Spain; Department of Neurology (N.G., Anita Hennig, S.S.), Ludwig Maximilian University of Munich, Germany; Department of Neurology (Anhar Hassan), Mayo Clinic, Rochester, MN, United States; Willink Unit (S.J.), Manchester Centre for Genomic Medicine, Royal Manchester Children's Hospital, University of Manchester, United Kingdom; RK Statistics, Brook House, Mesne Lane, Bakewell DE45 1AL, United Kingdom 9. Division of Neurogenetics, New York University Langone, NY, United States; Department of Neurology (H.L.), New York University Langone School of Medicine, NY, United States; Department of Neurology (S.P.), University of California Los Angeles, CA, United States; Department of Adult Metabolic Medicine (R.S.), Salford Royal Foundation NHS Trust, United Kingdom; and Department of Neurology (T.B.-E.), University Hospital Bern (Inselspital), Switzerland., Hahn A; From the Department of Pediatric Neurology (K.M., Andreas Hahn), University Children's Hospital (UKGM) and Medical Faculty, Justus Liebig University of Giessen, Giessen, Germany; Department of Pediatrics (K.M.), Medical Faculty and University Hospital, University of Cologne, Cologne, Germa; Department of Neurology (J.C.), Essen University Hospital, University of Duisburg-Essen, Germany; Department of Neurocritical Care, Neurological and Neurosurgical First Stage Rehabilitation and Weaning, MediClin Klinik Reichshof, Germany; Department of Neurologic Diseases and Neurogenetics (J.G.-B.), Institut D'Investigació Biomèdica de Bellvitge, Barcelona, Spain; Department of Neurology (N.G., Anita Hennig, S.S.), Ludwig Maximilian University of Munich, Germany; Department of Neurology (Anhar Hassan), Mayo Clinic, Rochester, MN, United States; Willink Unit (S.J.), Manchester Centre for Genomic Medicine, Royal Manchester Children's Hospital, University of Manchester, United Kingdom; RK Statistics, Brook House, Mesne Lane, Bakewell DE45 1AL, United Kingdom 9. Division of Neurogenetics, New York University Langone, NY, United States; Department of Neurology (H.L.), New York University Langone School of Medicine, NY, United States; Department of Neurology (S.P.), University of California Los Angeles, CA, United States; Department of Adult Metabolic Medicine (R.S.), Salford Royal Foundation NHS Trust, United Kingdom; and Department of Neurology (T.B.-E.), University Hospital Bern (Inselspital), Switzerland., Hassan A; From the Department of Pediatric Neurology (K.M., Andreas Hahn), University Children's Hospital (UKGM) and Medical Faculty, Justus Liebig University of Giessen, Giessen, Germany; Department of Pediatrics (K.M.), Medical Faculty and University Hospital, University of Cologne, Cologne, Germa; Department of Neurology (J.C.), Essen University Hospital, University of Duisburg-Essen, Germany; Department of Neurocritical Care, Neurological and Neurosurgical First Stage Rehabilitation and Weaning, MediClin Klinik Reichshof, Germany; Department of Neurologic Diseases and Neurogenetics (J.G.-B.), Institut D'Investigació Biomèdica de Bellvitge, Barcelona, Spain; Department of Neurology (N.G., Anita Hennig, S.S.), Ludwig Maximilian University of Munich, Germany; Department of Neurology (Anhar Hassan), Mayo Clinic, Rochester, MN, United States; Willink Unit (S.J.), Manchester Centre for Genomic Medicine, Royal Manchester Children's Hospital, University of Manchester, United Kingdom; RK Statistics, Brook House, Mesne Lane, Bakewell DE45 1AL, United Kingdom 9. Division of Neurogenetics, New York University Langone, NY, United States; Department of Neurology (H.L.), New York University Langone School of Medicine, NY, United States; Department of Neurology (S.P.), University of California Los Angeles, CA, United States; Department of Adult Metabolic Medicine (R.S.), Salford Royal Foundation NHS Trust, United Kingdom; and Department of Neurology (T.B.-E.), University Hospital Bern (Inselspital), Switzerland., Hennig A; From the Department of Pediatric Neurology (K.M., Andreas Hahn), University Children's Hospital (UKGM) and Medical Faculty, Justus Liebig University of Giessen, Giessen, Germany; Department of Pediatrics (K.M.), Medical Faculty and University Hospital, University of Cologne, Cologne, Germa; Department of Neurology (J.C.), Essen University Hospital, University of Duisburg-Essen, Germany; Department of Neurocritical Care, Neurological and Neurosurgical First Stage Rehabilitation and Weaning, MediClin Klinik Reichshof, Germany; Department of Neurologic Diseases and Neurogenetics (J.G.-B.), Institut D'Investigació Biomèdica de Bellvitge, Barcelona, Spain; Department of Neurology (N.G., Anita Hennig, S.S.), Ludwig Maximilian University of Munich, Germany; Department of Neurology (Anhar Hassan), Mayo Clinic, Rochester, MN, United States; Willink Unit (S.J.), Manchester Centre for Genomic Medicine, Royal Manchester Children's Hospital, University of Manchester, United Kingdom; RK Statistics, Brook House, Mesne Lane, Bakewell DE45 1AL, United Kingdom 9. Division of Neurogenetics, New York University Langone, NY, United States; Department of Neurology (H.L.), New York University Langone School of Medicine, NY, United States; Department of Neurology (S.P.), University of California Los Angeles, CA, United States; Department of Adult Metabolic Medicine (R.S.), Salford Royal Foundation NHS Trust, United Kingdom; and Department of Neurology (T.B.-E.), University Hospital Bern (Inselspital), Switzerland., Jones S; From the Department of Pediatric Neurology (K.M., Andreas Hahn), University Children's Hospital (UKGM) and Medical Faculty, Justus Liebig University of Giessen, Giessen, Germany; Department of Pediatrics (K.M.), Medical Faculty and University Hospital, University of Cologne, Cologne, Germa; Department of Neurology (J.C.), Essen University Hospital, University of Duisburg-Essen, Germany; Department of Neurocritical Care, Neurological and Neurosurgical First Stage Rehabilitation and Weaning, MediClin Klinik Reichshof, Germany; Department of Neurologic Diseases and Neurogenetics (J.G.-B.), Institut D'Investigació Biomèdica de Bellvitge, Barcelona, Spain; Department of Neurology (N.G., Anita Hennig, S.S.), Ludwig Maximilian University of Munich, Germany; Department of Neurology (Anhar Hassan), Mayo Clinic, Rochester, MN, United States; Willink Unit (S.J.), Manchester Centre for Genomic Medicine, Royal Manchester Children's Hospital, University of Manchester, United Kingdom; RK Statistics, Brook House, Mesne Lane, Bakewell DE45 1AL, United Kingdom 9. Division of Neurogenetics, New York University Langone, NY, United States; Department of Neurology (H.L.), New York University Langone School of Medicine, NY, United States; Department of Neurology (S.P.), University of California Los Angeles, CA, United States; Department of Adult Metabolic Medicine (R.S.), Salford Royal Foundation NHS Trust, United Kingdom; and Department of Neurology (T.B.-E.), University Hospital Bern (Inselspital), Switzerland., Kay R; From the Department of Pediatric Neurology (K.M., Andreas Hahn), University Children's Hospital (UKGM) and Medical Faculty, Justus Liebig University of Giessen, Giessen, Germany; Department of Pediatrics (K.M.), Medical Faculty and University Hospital, University of Cologne, Cologne, Germa; Department of Neurology (J.C.), Essen University Hospital, University of Duisburg-Essen, Germany; Department of Neurocritical Care, Neurological and Neurosurgical First Stage Rehabilitation and Weaning, MediClin Klinik Reichshof, Germany; Department of Neurologic Diseases and Neurogenetics (J.G.-B.), Institut D'Investigació Biomèdica de Bellvitge, Barcelona, Spain; Department of Neurology (N.G., Anita Hennig, S.S.), Ludwig Maximilian University of Munich, Germany; Department of Neurology (Anhar Hassan), Mayo Clinic, Rochester, MN, United States; Willink Unit (S.J.), Manchester Centre for Genomic Medicine, Royal Manchester Children's Hospital, University of Manchester, United Kingdom; RK Statistics, Brook House, Mesne Lane, Bakewell DE45 1AL, United Kingdom 9. Division of Neurogenetics, New York University Langone, NY, United States; Department of Neurology (H.L.), New York University Langone School of Medicine, NY, United States; Department of Neurology (S.P.), University of California Los Angeles, CA, United States; Department of Adult Metabolic Medicine (R.S.), Salford Royal Foundation NHS Trust, United Kingdom; and Department of Neurology (T.B.-E.), University Hospital Bern (Inselspital), Switzerland., Lau H; From the Department of Pediatric Neurology (K.M., Andreas Hahn), University Children's Hospital (UKGM) and Medical Faculty, Justus Liebig University of Giessen, Giessen, Germany; Department of Pediatrics (K.M.), Medical Faculty and University Hospital, University of Cologne, Cologne, Germa; Department of Neurology (J.C.), Essen University Hospital, University of Duisburg-Essen, Germany; Department of Neurocritical Care, Neurological and Neurosurgical First Stage Rehabilitation and Weaning, MediClin Klinik Reichshof, Germany; Department of Neurologic Diseases and Neurogenetics (J.G.-B.), Institut D'Investigació Biomèdica de Bellvitge, Barcelona, Spain; Department of Neurology (N.G., Anita Hennig, S.S.), Ludwig Maximilian University of Munich, Germany; Department of Neurology (Anhar Hassan), Mayo Clinic, Rochester, MN, United States; Willink Unit (S.J.), Manchester Centre for Genomic Medicine, Royal Manchester Children's Hospital, University of Manchester, United Kingdom; RK Statistics, Brook House, Mesne Lane, Bakewell DE45 1AL, United Kingdom 9. Division of Neurogenetics, New York University Langone, NY, United States; Department of Neurology (H.L.), New York University Langone School of Medicine, NY, United States; Department of Neurology (S.P.), University of California Los Angeles, CA, United States; Department of Adult Metabolic Medicine (R.S.), Salford Royal Foundation NHS Trust, United Kingdom; and Department of Neurology (T.B.-E.), University Hospital Bern (Inselspital), Switzerland., Perlman S; From the Department of Pediatric Neurology (K.M., Andreas Hahn), University Children's Hospital (UKGM) and Medical Faculty, Justus Liebig University of Giessen, Giessen, Germany; Department of Pediatrics (K.M.), Medical Faculty and University Hospital, University of Cologne, Cologne, Germa; Department of Neurology (J.C.), Essen University Hospital, University of Duisburg-Essen, Germany; Department of Neurocritical Care, Neurological and Neurosurgical First Stage Rehabilitation and Weaning, MediClin Klinik Reichshof, Germany; Department of Neurologic Diseases and Neurogenetics (J.G.-B.), Institut D'Investigació Biomèdica de Bellvitge, Barcelona, Spain; Department of Neurology (N.G., Anita Hennig, S.S.), Ludwig Maximilian University of Munich, Germany; Department of Neurology (Anhar Hassan), Mayo Clinic, Rochester, MN, United States; Willink Unit (S.J.), Manchester Centre for Genomic Medicine, Royal Manchester Children's Hospital, University of Manchester, United Kingdom; RK Statistics, Brook House, Mesne Lane, Bakewell DE45 1AL, United Kingdom 9. Division of Neurogenetics, New York University Langone, NY, United States; Department of Neurology (H.L.), New York University Langone School of Medicine, NY, United States; Department of Neurology (S.P.), University of California Los Angeles, CA, United States; Department of Adult Metabolic Medicine (R.S.), Salford Royal Foundation NHS Trust, United Kingdom; and Department of Neurology (T.B.-E.), University Hospital Bern (Inselspital), Switzerland., Sharma R; From the Department of Pediatric Neurology (K.M., Andreas Hahn), University Children's Hospital (UKGM) and Medical Faculty, Justus Liebig University of Giessen, Giessen, Germany; Department of Pediatrics (K.M.), Medical Faculty and University Hospital, University of Cologne, Cologne, Germa; Department of Neurology (J.C.), Essen University Hospital, University of Duisburg-Essen, Germany; Department of Neurocritical Care, Neurological and Neurosurgical First Stage Rehabilitation and Weaning, MediClin Klinik Reichshof, Germany; Department of Neurologic Diseases and Neurogenetics (J.G.-B.), Institut D'Investigació Biomèdica de Bellvitge, Barcelona, Spain; Department of Neurology (N.G., Anita Hennig, S.S.), Ludwig Maximilian University of Munich, Germany; Department of Neurology (Anhar Hassan), Mayo Clinic, Rochester, MN, United States; Willink Unit (S.J.), Manchester Centre for Genomic Medicine, Royal Manchester Children's Hospital, University of Manchester, United Kingdom; RK Statistics, Brook House, Mesne Lane, Bakewell DE45 1AL, United Kingdom 9. Division of Neurogenetics, New York University Langone, NY, United States; Department of Neurology (H.L.), New York University Langone School of Medicine, NY, United States; Department of Neurology (S.P.), University of California Los Angeles, CA, United States; Department of Adult Metabolic Medicine (R.S.), Salford Royal Foundation NHS Trust, United Kingdom; and Department of Neurology (T.B.-E.), University Hospital Bern (Inselspital), Switzerland., Schneider S; From the Department of Pediatric Neurology (K.M., Andreas Hahn), University Children's Hospital (UKGM) and Medical Faculty, Justus Liebig University of Giessen, Giessen, Germany; Department of Pediatrics (K.M.), Medical Faculty and University Hospital, University of Cologne, Cologne, Germa; Department of Neurology (J.C.), Essen University Hospital, University of Duisburg-Essen, Germany; Department of Neurocritical Care, Neurological and Neurosurgical First Stage Rehabilitation and Weaning, MediClin Klinik Reichshof, Germany; Department of Neurologic Diseases and Neurogenetics (J.G.-B.), Institut D'Investigació Biomèdica de Bellvitge, Barcelona, Spain; Department of Neurology (N.G., Anita Hennig, S.S.), Ludwig Maximilian University of Munich, Germany; Department of Neurology (Anhar Hassan), Mayo Clinic, Rochester, MN, United States; Willink Unit (S.J.), Manchester Centre for Genomic Medicine, Royal Manchester Children's Hospital, University of Manchester, United Kingdom; RK Statistics, Brook House, Mesne Lane, Bakewell DE45 1AL, United Kingdom 9. Division of Neurogenetics, New York University Langone, NY, United States; Department of Neurology (H.L.), New York University Langone School of Medicine, NY, United States; Department of Neurology (S.P.), University of California Los Angeles, CA, United States; Department of Adult Metabolic Medicine (R.S.), Salford Royal Foundation NHS Trust, United Kingdom; and Department of Neurology (T.B.-E.), University Hospital Bern (Inselspital), Switzerland., Bremova-Ertl T; From the Department of Pediatric Neurology (K.M., Andreas Hahn), University Children's Hospital (UKGM) and Medical Faculty, Justus Liebig University of Giessen, Giessen, Germany; Department of Pediatrics (K.M.), Medical Faculty and University Hospital, University of Cologne, Cologne, Germa; Department of Neurology (J.C.), Essen University Hospital, University of Duisburg-Essen, Germany; Department of Neurocritical Care, Neurological and Neurosurgical First Stage Rehabilitation and Weaning, MediClin Klinik Reichshof, Germany; Department of Neurologic Diseases and Neurogenetics (J.G.-B.), Institut D'Investigació Biomèdica de Bellvitge, Barcelona, Spain; Department of Neurology (N.G., Anita Hennig, S.S.), Ludwig Maximilian University of Munich, Germany; Department of Neurology (Anhar Hassan), Mayo Clinic, Rochester, MN, United States; Willink Unit (S.J.), Manchester Centre for Genomic Medicine, Royal Manchester Children's Hospital, University of Manchester, United Kingdom; RK Statistics, Brook House, Mesne Lane, Bakewell DE45 1AL, United Kingdom 9. Division of Neurogenetics, New York University Langone, NY, United States; Department of Neurology (H.L.), New York University Langone School of Medicine, NY, United States; Department of Neurology (S.P.), University of California Los Angeles, CA, United States; Department of Adult Metabolic Medicine (R.S.), Salford Royal Foundation NHS Trust, United Kingdom; and Department of Neurology (T.B.-E.), University Hospital Bern (Inselspital), Switzerland.
Publikováno v:
Neurology [Neurology] 2023 Mar 07; Vol. 100 (10), pp. e1072-e1083. Date of Electronic Publication: 2022 Dec 01.
Autor:
Oishi K; Department of Pharmacology, Meiji Pharmaceutical University.
Publikováno v:
Yakugaku zasshi : Journal of the Pharmaceutical Society of Japan [Yakugaku Zasshi] 2023; Vol. 143 (1), pp. 65-75.
Autor:
Rahmani Z; Department of Medical Genetics, Golestan University of Medical Sciences, Gorgan, Iran., Banisadr A; Department of Medical Biotechnology and Nanotechnology, Mashhad University of Medical Sciences, Mashhad, Iran., Ghodsinezhad V; Molecular Medicine Department, Faculty of Medicine, Zanjan University of Medical Sciences, Zanjan, Iran. vadieh95@gmail.com., Dibaj M; Department of Biological Sciences, School of Natural Sciences, University of Tabriz, Tabriz, Iran., Aryani O; Neuroscience Department, Iran University of Medical sciences, Tehran, Iran.
Publikováno v:
Metabolic brain disease [Metab Brain Dis] 2022 Dec; Vol. 37 (8), pp. 2669-2675. Date of Electronic Publication: 2022 Oct 03.
Autor:
Morales C; Instituto de Investigación Médica M y M Ferreyra, INIMEC-CONICET, Universidad Nacional de Córdoba, Córdoba 5016, Argentina., Fernandez M; Instituto de Investigación Médica M y M Ferreyra, INIMEC-CONICET, Universidad Nacional de Córdoba, Córdoba 5016, Argentina., Ferrer R; Instituto de Investigación Médica M y M Ferreyra, INIMEC-CONICET, Universidad Nacional de Córdoba, Córdoba 5016, Argentina., Raimunda D; Instituto de Investigación Médica M y M Ferreyra, INIMEC-CONICET, Universidad Nacional de Córdoba, Córdoba 5016, Argentina., Carrer DC; Instituto de Investigación Médica M y M Ferreyra, INIMEC-CONICET, Universidad Nacional de Córdoba, Córdoba 5016, Argentina., Bollo M; Instituto de Investigación Médica M y M Ferreyra, INIMEC-CONICET, Universidad Nacional de Córdoba, Córdoba 5016, Argentina.
Publikováno v:
International journal of molecular sciences [Int J Mol Sci] 2023 Apr 13; Vol. 24 (8). Date of Electronic Publication: 2023 Apr 13.