Zobrazeno 1 - 10
of 11 311
pro vyhledávání: '"SPASTIC PARAPLEGIA"'
Autor:
Siow SF; Sydney Medical School, University of Sydney, Camperdown, NSW, Australia. sue-faye.siow@sydney.edu.au.; Department of Clinical Genetics, Royal North Shore Hospital, St Leonards, NSW, Australia. sue-faye.siow@sydney.edu.au., Fleming J; Department of Clinical Genetics, Royal North Shore Hospital, St Leonards, NSW, Australia., Barlow-Stewart K; Sydney Medical School, University of Sydney, Camperdown, NSW, Australia., Wali G; Neuroscience Research Australia and University of New South Wales, UNSW, Randwick, NSW, Australia., Kumar KR; Sydney Medical School, University of Sydney, Camperdown, NSW, Australia.; Translational Neurogenomics Group, Genomics and Inherited Disease Program, Garvan Institute of Medical Research, Darlinghurst, 2010, Australia.; Molecular Medicine Laboratory and Department of Neurology, Concord Hospital, Concord, 2139, Australia.; School of Clinical Medicine, UNSW Medicine & Health, University of New South Wales, Kensington 2052, Sydney, Australia., Sue CM; Neuroscience Research Australia and University of New South Wales, UNSW, Randwick, NSW, Australia.; School of Clinical Medicine, UNSW Medicine & Health, University of New South Wales, Kensington 2052, Sydney, Australia.; Department of Neurology, Prince of Wales Hospital, Randwick, NSW, Australia.
Publikováno v:
Cerebellum (London, England) [Cerebellum] 2024 Dec 17; Vol. 24 (1), pp. 14. Date of Electronic Publication: 2024 Dec 17.
Autor:
Qi Q; Department of Reproductive Medicine, Jinling Clinical Medical College, Nanjing University of Chinese Medicine, Nanjng 210002, China., Zhou Z; Department of Reproductive Medicine, Jinling Hospital, Affiliated Hospital of Medical School of Nanjing University, Nanjing, 210002, China., Ma J; Department of Reproductive Medicine, Jinling Clinical Medical College, Nanjing University of Chinese Medicine, Nanjng 210002, China., Yao B; Department of Reproductive Medicine, Jinling Clinical Medical College, Nanjing University of Chinese Medicine, Nanjng 210002, China., Chen L; Department of Reproductive Medicine, Jinling Clinical Medical College, Nanjing University of Chinese Medicine, Nanjng 210002, China.
Publikováno v:
Nan fang yi ke da xue xue bao = Journal of Southern Medical University [Nan Fang Yi Ke Da Xue Xue Bao] 2024 Nov 20; Vol. 44 (11), pp. 2184-2191.
Axon demyelination and degeneration in a zebrafish spastizin model of hereditary spastic paraplegia.
Autor:
Garg V; Department of Cellular Neurobiology, Georg-August-University Göttingen, Göttingen, Germany., André S; Department of Cellular Neurobiology, Georg-August-University Göttingen, Göttingen, Germany., Heyer L; Department of Cellular Neurobiology, Georg-August-University Göttingen, Göttingen, Germany., Kracht G; Department of Developmental Biochemistry, Georg-August-University Göttingen, Göttingen, Germany., Ruhwedel T; Department of Neurogenetics, Max Planck Institute for Multidisciplinary Sciences, Göttingen, Germany., Scholz P; Department of Plant Biochemistry, Georg-August-University Göttingen, Göttingen, Germany., Ischebeck T; Department of Plant Biochemistry, Georg-August-University Göttingen, Göttingen, Germany.; Institute of Plant Biology and Biotechnology, University of Münster, Münster, Germany., Werner HB; Department of Neurogenetics, Max Planck Institute for Multidisciplinary Sciences, Göttingen, Germany., Dullin C; Institute for Diagnostic and Interventional Radiology, University Medical Center, Göttingen, Germany., Engelmann J; Faculty of Biology, Bielefeld University, Bielefeld, Germany., Möbius W; Department of Neurogenetics, Max Planck Institute for Multidisciplinary Sciences, Göttingen, Germany., Göpfert MC; Department of Cellular Neurobiology, Georg-August-University Göttingen, Göttingen, Germany., Dosch R; Institute for Humangenetics, University Medical Center, Göttingen, Germany., Geurten BRH; Department of Cellular Neurobiology, Georg-August-University Göttingen, Göttingen, Germany.; Department of Zoology, University of Otago Dunedin, Dunedin, New Zealand.
Publikováno v:
Open biology [Open Biol] 2024 Nov; Vol. 14 (11), pp. 240100. Date of Electronic Publication: 2024 Nov 06.
Autor:
Sadr Z; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran., Rohani M; Department of Neurology, Hazrat Rasool Hospital, School of Medicines, Iran University of Medical Sciences, Tehran, Iran., Jamali P; Genetic Counseling Center, Shahroud, Iran., Alavi A; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.; Neuromuscular Research Center, Tehran University of Medical Sciences, Tehran, Iran.
Publikováno v:
The International journal of neuroscience [Int J Neurosci] 2024 Nov; Vol. 134 (11), pp. 1282-1287. Date of Electronic Publication: 2023 Sep 21.
Cul-4 inhibition rescues spastin levels and reduces defects in hereditary spastic paraplegia models.
Autor:
Sardina F; National Research Council (CNR), Institute of Molecular Biology and Pathology (IBPM), c/o University of Rome Sapienza, 00185 Rome, Italy., Carsetti C; National Research Council (CNR), Institute of Molecular Biology and Pathology (IBPM), c/o University of Rome Sapienza, 00185 Rome, Italy.; Department of Biology and Biotechnology, University of Rome Sapienza, 00185, Rome, Italy., Giorgini L; National Research Council (CNR), Institute of Molecular Biology and Pathology (IBPM), c/o University of Rome Sapienza, 00185 Rome, Italy., Fattorini G; National Research Council (CNR), Institute of Molecular Biology and Pathology (IBPM), c/o University of Rome Sapienza, 00185 Rome, Italy.; Department of Biology and Biotechnology, University of Rome Sapienza, 00185, Rome, Italy., Cestra G; National Research Council (CNR), Institute of Molecular Biology and Pathology (IBPM), c/o University of Rome Sapienza, 00185 Rome, Italy.; Department of Biology and Biotechnology, University of Rome Sapienza, 00185, Rome, Italy.; Fondazione Santa Lucia IRCCS, c/o CERC, 00179, Rome, Italy., Rinaldo C; National Research Council (CNR), Institute of Molecular Biology and Pathology (IBPM), c/o University of Rome Sapienza, 00185 Rome, Italy.
Publikováno v:
Brain : a journal of neurology [Brain] 2024 Oct 03; Vol. 147 (10), pp. 3534-3546.
Autor:
van de Venis L; Radboud University Medical Center; Donders Institute for Brain, Cognition and Behavior; Department of Rehabilitation; Nijmegen, the Netherlands; Department of Rehabilitation, Sint Maartenskliniek, Nijmegen, The Netherlands. Electronic address: lotte.vandevenis@radboudumc.nl., Ormiston J; Department of Research, Sint Maartenskliniek, Nijmegen, The Netherlands., Bruijn S; Department of Human Movement Sciences, Faculty of Behavioural and Movement Sciences, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands., Geurts ACH; Radboud University Medical Center; Donders Institute for Brain, Cognition and Behavior; Department of Rehabilitation; Nijmegen, the Netherlands; Department of Rehabilitation, Sint Maartenskliniek, Nijmegen, The Netherlands., van de Warrenburg BPC; Radboud University Medical Center; Donders Institute for Brain, Cognition and Behavior; Department of Neurology; Nijmegen, the Netherlands., Weerdesteyn V; Radboud University Medical Center; Donders Institute for Brain, Cognition and Behavior; Department of Rehabilitation; Nijmegen, the Netherlands; Department of Research, Sint Maartenskliniek, Nijmegen, The Netherlands., Keijsers N; Department of Research, Sint Maartenskliniek, Nijmegen, The Netherlands., Nonnekes J; Radboud University Medical Center; Donders Institute for Brain, Cognition and Behavior; Department of Rehabilitation; Nijmegen, the Netherlands; Department of Rehabilitation, Sint Maartenskliniek, Nijmegen, The Netherlands.
Publikováno v:
Gait & posture [Gait Posture] 2024 Oct; Vol. 114, pp. 270-276. Date of Electronic Publication: 2024 Oct 16.
Autor:
Sebastiano MR; University of Torino, Molecular Biotechnology and Health Sciences Department, CASSMedChem, Piazza Nizza, 10138 Torino, Italy., Hadano S; Molecular Neuropathobiology Laboratory, Department of Physiology, Tokai University School of Medicine, Isehara, Japan., Cesca F; Department of Life Sciences, University of Trieste, 34127 Trieste, Italy., Ermondi G; University of Torino, Molecular Biotechnology and Health Sciences Department, CASSMedChem, Piazza Nizza, 10138 Torino, Italy. Electronic address: giuseppe.ermondi@unito.it.
Publikováno v:
Drug discovery today [Drug Discov Today] 2024 Oct; Vol. 29 (10), pp. 104138. Date of Electronic Publication: 2024 Aug 19.
Autor:
Beichert L; Division Translational Genomics of Neurodegenerative Diseases (L.B., A.T., D.M., M.S.), Hertie-Institute for Clinical Brain Research and Center for Neurology, and German Center for Neurodegenerative Diseases (DZNE) (L.B., A.T., D.M., K.D.-J., M.S., R.S.), University of Tübingen; Section Computational Sensomotorics (J.S., W.I.), Hertie Institute for Clinical Brain Research; Centre for Integrative Neuroscience (CIN) (J.S., W.I.); Department of Neurodegenerative Diseases (C.K.), Hertie-Institute for Clinical Brain Research and Center for Neurology, University of Tübingen; Center for Neurology and Hertie Institute for Clinical Brain Research (K.D.-J., R.S.), University Hospital Tübingen, Germany; Molecular Medicine (I.R., S.S.), IRCCS Fondazione Stella Maris, Pisa, Italy; Koç University (N.A.B.), Translational Medicine Research Center, KUTTAM-NDAL, Istanbul, Turkey; Sorbonne Université (G.C.), Paris Brain Institute, INSERM, CNRS, APHP, France; Department of Neurology and Center for Translational Neuro- and Behavioral Sciences (D.T.), University Hospital Essen, University of Duisburg-Essen, Germany; Groupe de recherche interdisciplinaire sur les maladies neuromusculaires (GRIMN) (C.G.), Centre intégré universitaire de santé et de services sociaux du Saguenay-Lac-St-Jean; Centre de recherche du Centre intégré universitaire de santé et de services sociaux du Saguenay-Lac-St-Jean (C.G.); Faculté de médecine et des sciences de la santé (C.G.), Université de Sherbrooke, Québec, Canada; Department of Neurology (B.P.C.v.d.W.), Radboud University Medical Center, Nijmegen, the Netherlands; and Division of Neurodegenerative Diseases (R.S.), Department of Neurology, Heidelberg University Hospital, Germany., Seemann J; Division Translational Genomics of Neurodegenerative Diseases (L.B., A.T., D.M., M.S.), Hertie-Institute for Clinical Brain Research and Center for Neurology, and German Center for Neurodegenerative Diseases (DZNE) (L.B., A.T., D.M., K.D.-J., M.S., R.S.), University of Tübingen; Section Computational Sensomotorics (J.S., W.I.), Hertie Institute for Clinical Brain Research; Centre for Integrative Neuroscience (CIN) (J.S., W.I.); Department of Neurodegenerative Diseases (C.K.), Hertie-Institute for Clinical Brain Research and Center for Neurology, University of Tübingen; Center for Neurology and Hertie Institute for Clinical Brain Research (K.D.-J., R.S.), University Hospital Tübingen, Germany; Molecular Medicine (I.R., S.S.), IRCCS Fondazione Stella Maris, Pisa, Italy; Koç University (N.A.B.), Translational Medicine Research Center, KUTTAM-NDAL, Istanbul, Turkey; Sorbonne Université (G.C.), Paris Brain Institute, INSERM, CNRS, APHP, France; Department of Neurology and Center for Translational Neuro- and Behavioral Sciences (D.T.), University Hospital Essen, University of Duisburg-Essen, Germany; Groupe de recherche interdisciplinaire sur les maladies neuromusculaires (GRIMN) (C.G.), Centre intégré universitaire de santé et de services sociaux du Saguenay-Lac-St-Jean; Centre de recherche du Centre intégré universitaire de santé et de services sociaux du Saguenay-Lac-St-Jean (C.G.); Faculté de médecine et des sciences de la santé (C.G.), Université de Sherbrooke, Québec, Canada; Department of Neurology (B.P.C.v.d.W.), Radboud University Medical Center, Nijmegen, the Netherlands; and Division of Neurodegenerative Diseases (R.S.), Department of Neurology, Heidelberg University Hospital, Germany., Kessler C; Division Translational Genomics of Neurodegenerative Diseases (L.B., A.T., D.M., M.S.), Hertie-Institute for Clinical Brain Research and Center for Neurology, and German Center for Neurodegenerative Diseases (DZNE) (L.B., A.T., D.M., K.D.-J., M.S., R.S.), University of Tübingen; Section Computational Sensomotorics (J.S., W.I.), Hertie Institute for Clinical Brain Research; Centre for Integrative Neuroscience (CIN) (J.S., W.I.); Department of Neurodegenerative Diseases (C.K.), Hertie-Institute for Clinical Brain Research and Center for Neurology, University of Tübingen; Center for Neurology and Hertie Institute for Clinical Brain Research (K.D.-J., R.S.), University Hospital Tübingen, Germany; Molecular Medicine (I.R., S.S.), IRCCS Fondazione Stella Maris, Pisa, Italy; Koç University (N.A.B.), Translational Medicine Research Center, KUTTAM-NDAL, Istanbul, Turkey; Sorbonne Université (G.C.), Paris Brain Institute, INSERM, CNRS, APHP, France; Department of Neurology and Center for Translational Neuro- and Behavioral Sciences (D.T.), University Hospital Essen, University of Duisburg-Essen, Germany; Groupe de recherche interdisciplinaire sur les maladies neuromusculaires (GRIMN) (C.G.), Centre intégré universitaire de santé et de services sociaux du Saguenay-Lac-St-Jean; Centre de recherche du Centre intégré universitaire de santé et de services sociaux du Saguenay-Lac-St-Jean (C.G.); Faculté de médecine et des sciences de la santé (C.G.), Université de Sherbrooke, Québec, Canada; Department of Neurology (B.P.C.v.d.W.), Radboud University Medical Center, Nijmegen, the Netherlands; and Division of Neurodegenerative Diseases (R.S.), Department of Neurology, Heidelberg University Hospital, Germany., Traschütz A; Division Translational Genomics of Neurodegenerative Diseases (L.B., A.T., D.M., M.S.), Hertie-Institute for Clinical Brain Research and Center for Neurology, and German Center for Neurodegenerative Diseases (DZNE) (L.B., A.T., D.M., K.D.-J., M.S., R.S.), University of Tübingen; Section Computational Sensomotorics (J.S., W.I.), Hertie Institute for Clinical Brain Research; Centre for Integrative Neuroscience (CIN) (J.S., W.I.); Department of Neurodegenerative Diseases (C.K.), Hertie-Institute for Clinical Brain Research and Center for Neurology, University of Tübingen; Center for Neurology and Hertie Institute for Clinical Brain Research (K.D.-J., R.S.), University Hospital Tübingen, Germany; Molecular Medicine (I.R., S.S.), IRCCS Fondazione Stella Maris, Pisa, Italy; Koç University (N.A.B.), Translational Medicine Research Center, KUTTAM-NDAL, Istanbul, Turkey; Sorbonne Université (G.C.), Paris Brain Institute, INSERM, CNRS, APHP, France; Department of Neurology and Center for Translational Neuro- and Behavioral Sciences (D.T.), University Hospital Essen, University of Duisburg-Essen, Germany; Groupe de recherche interdisciplinaire sur les maladies neuromusculaires (GRIMN) (C.G.), Centre intégré universitaire de santé et de services sociaux du Saguenay-Lac-St-Jean; Centre de recherche du Centre intégré universitaire de santé et de services sociaux du Saguenay-Lac-St-Jean (C.G.); Faculté de médecine et des sciences de la santé (C.G.), Université de Sherbrooke, Québec, Canada; Department of Neurology (B.P.C.v.d.W.), Radboud University Medical Center, Nijmegen, the Netherlands; and Division of Neurodegenerative Diseases (R.S.), Department of Neurology, Heidelberg University Hospital, Germany., Müller D; Division Translational Genomics of Neurodegenerative Diseases (L.B., A.T., D.M., M.S.), Hertie-Institute for Clinical Brain Research and Center for Neurology, and German Center for Neurodegenerative Diseases (DZNE) (L.B., A.T., D.M., K.D.-J., M.S., R.S.), University of Tübingen; Section Computational Sensomotorics (J.S., W.I.), Hertie Institute for Clinical Brain Research; Centre for Integrative Neuroscience (CIN) (J.S., W.I.); Department of Neurodegenerative Diseases (C.K.), Hertie-Institute for Clinical Brain Research and Center for Neurology, University of Tübingen; Center for Neurology and Hertie Institute for Clinical Brain Research (K.D.-J., R.S.), University Hospital Tübingen, Germany; Molecular Medicine (I.R., S.S.), IRCCS Fondazione Stella Maris, Pisa, Italy; Koç University (N.A.B.), Translational Medicine Research Center, KUTTAM-NDAL, Istanbul, Turkey; Sorbonne Université (G.C.), Paris Brain Institute, INSERM, CNRS, APHP, France; Department of Neurology and Center for Translational Neuro- and Behavioral Sciences (D.T.), University Hospital Essen, University of Duisburg-Essen, Germany; Groupe de recherche interdisciplinaire sur les maladies neuromusculaires (GRIMN) (C.G.), Centre intégré universitaire de santé et de services sociaux du Saguenay-Lac-St-Jean; Centre de recherche du Centre intégré universitaire de santé et de services sociaux du Saguenay-Lac-St-Jean (C.G.); Faculté de médecine et des sciences de la santé (C.G.), Université de Sherbrooke, Québec, Canada; Department of Neurology (B.P.C.v.d.W.), Radboud University Medical Center, Nijmegen, the Netherlands; and Division of Neurodegenerative Diseases (R.S.), Department of Neurology, Heidelberg University Hospital, Germany., Dillmann-Jehn K; Division Translational Genomics of Neurodegenerative Diseases (L.B., A.T., D.M., M.S.), Hertie-Institute for Clinical Brain Research and Center for Neurology, and German Center for Neurodegenerative Diseases (DZNE) (L.B., A.T., D.M., K.D.-J., M.S., R.S.), University of Tübingen; Section Computational Sensomotorics (J.S., W.I.), Hertie Institute for Clinical Brain Research; Centre for Integrative Neuroscience (CIN) (J.S., W.I.); Department of Neurodegenerative Diseases (C.K.), Hertie-Institute for Clinical Brain Research and Center for Neurology, University of Tübingen; Center for Neurology and Hertie Institute for Clinical Brain Research (K.D.-J., R.S.), University Hospital Tübingen, Germany; Molecular Medicine (I.R., S.S.), IRCCS Fondazione Stella Maris, Pisa, Italy; Koç University (N.A.B.), Translational Medicine Research Center, KUTTAM-NDAL, Istanbul, Turkey; Sorbonne Université (G.C.), Paris Brain Institute, INSERM, CNRS, APHP, France; Department of Neurology and Center for Translational Neuro- and Behavioral Sciences (D.T.), University Hospital Essen, University of Duisburg-Essen, Germany; Groupe de recherche interdisciplinaire sur les maladies neuromusculaires (GRIMN) (C.G.), Centre intégré universitaire de santé et de services sociaux du Saguenay-Lac-St-Jean; Centre de recherche du Centre intégré universitaire de santé et de services sociaux du Saguenay-Lac-St-Jean (C.G.); Faculté de médecine et des sciences de la santé (C.G.), Université de Sherbrooke, Québec, Canada; Department of Neurology (B.P.C.v.d.W.), Radboud University Medical Center, Nijmegen, the Netherlands; and Division of Neurodegenerative Diseases (R.S.), Department of Neurology, Heidelberg University Hospital, Germany., Ricca I; Division Translational Genomics of Neurodegenerative Diseases (L.B., A.T., D.M., M.S.), Hertie-Institute for Clinical Brain Research and Center for Neurology, and German Center for Neurodegenerative Diseases (DZNE) (L.B., A.T., D.M., K.D.-J., M.S., R.S.), University of Tübingen; Section Computational Sensomotorics (J.S., W.I.), Hertie Institute for Clinical Brain Research; Centre for Integrative Neuroscience (CIN) (J.S., W.I.); Department of Neurodegenerative Diseases (C.K.), Hertie-Institute for Clinical Brain Research and Center for Neurology, University of Tübingen; Center for Neurology and Hertie Institute for Clinical Brain Research (K.D.-J., R.S.), University Hospital Tübingen, Germany; Molecular Medicine (I.R., S.S.), IRCCS Fondazione Stella Maris, Pisa, Italy; Koç University (N.A.B.), Translational Medicine Research Center, KUTTAM-NDAL, Istanbul, Turkey; Sorbonne Université (G.C.), Paris Brain Institute, INSERM, CNRS, APHP, France; Department of Neurology and Center for Translational Neuro- and Behavioral Sciences (D.T.), University Hospital Essen, University of Duisburg-Essen, Germany; Groupe de recherche interdisciplinaire sur les maladies neuromusculaires (GRIMN) (C.G.), Centre intégré universitaire de santé et de services sociaux du Saguenay-Lac-St-Jean; Centre de recherche du Centre intégré universitaire de santé et de services sociaux du Saguenay-Lac-St-Jean (C.G.); Faculté de médecine et des sciences de la santé (C.G.), Université de Sherbrooke, Québec, Canada; Department of Neurology (B.P.C.v.d.W.), Radboud University Medical Center, Nijmegen, the Netherlands; and Division of Neurodegenerative Diseases (R.S.), Department of Neurology, Heidelberg University Hospital, Germany., Satolli S; Division Translational Genomics of Neurodegenerative Diseases (L.B., A.T., D.M., M.S.), Hertie-Institute for Clinical Brain Research and Center for Neurology, and German Center for Neurodegenerative Diseases (DZNE) (L.B., A.T., D.M., K.D.-J., M.S., R.S.), University of Tübingen; Section Computational Sensomotorics (J.S., W.I.), Hertie Institute for Clinical Brain Research; Centre for Integrative Neuroscience (CIN) (J.S., W.I.); Department of Neurodegenerative Diseases (C.K.), Hertie-Institute for Clinical Brain Research and Center for Neurology, University of Tübingen; Center for Neurology and Hertie Institute for Clinical Brain Research (K.D.-J., R.S.), University Hospital Tübingen, Germany; Molecular Medicine (I.R., S.S.), IRCCS Fondazione Stella Maris, Pisa, Italy; Koç University (N.A.B.), Translational Medicine Research Center, KUTTAM-NDAL, Istanbul, Turkey; Sorbonne Université (G.C.), Paris Brain Institute, INSERM, CNRS, APHP, France; Department of Neurology and Center for Translational Neuro- and Behavioral Sciences (D.T.), University Hospital Essen, University of Duisburg-Essen, Germany; Groupe de recherche interdisciplinaire sur les maladies neuromusculaires (GRIMN) (C.G.), Centre intégré universitaire de santé et de services sociaux du Saguenay-Lac-St-Jean; Centre de recherche du Centre intégré universitaire de santé et de services sociaux du Saguenay-Lac-St-Jean (C.G.); Faculté de médecine et des sciences de la santé (C.G.), Université de Sherbrooke, Québec, Canada; Department of Neurology (B.P.C.v.d.W.), Radboud University Medical Center, Nijmegen, the Netherlands; and Division of Neurodegenerative Diseases (R.S.), Department of Neurology, Heidelberg University Hospital, Germany., Basak NA; Division Translational Genomics of Neurodegenerative Diseases (L.B., A.T., D.M., M.S.), Hertie-Institute for Clinical Brain Research and Center for Neurology, and German Center for Neurodegenerative Diseases (DZNE) (L.B., A.T., D.M., K.D.-J., M.S., R.S.), University of Tübingen; Section Computational Sensomotorics (J.S., W.I.), Hertie Institute for Clinical Brain Research; Centre for Integrative Neuroscience (CIN) (J.S., W.I.); Department of Neurodegenerative Diseases (C.K.), Hertie-Institute for Clinical Brain Research and Center for Neurology, University of Tübingen; Center for Neurology and Hertie Institute for Clinical Brain Research (K.D.-J., R.S.), University Hospital Tübingen, Germany; Molecular Medicine (I.R., S.S.), IRCCS Fondazione Stella Maris, Pisa, Italy; Koç University (N.A.B.), Translational Medicine Research Center, KUTTAM-NDAL, Istanbul, Turkey; Sorbonne Université (G.C.), Paris Brain Institute, INSERM, CNRS, APHP, France; Department of Neurology and Center for Translational Neuro- and Behavioral Sciences (D.T.), University Hospital Essen, University of Duisburg-Essen, Germany; Groupe de recherche interdisciplinaire sur les maladies neuromusculaires (GRIMN) (C.G.), Centre intégré universitaire de santé et de services sociaux du Saguenay-Lac-St-Jean; Centre de recherche du Centre intégré universitaire de santé et de services sociaux du Saguenay-Lac-St-Jean (C.G.); Faculté de médecine et des sciences de la santé (C.G.), Université de Sherbrooke, Québec, Canada; Department of Neurology (B.P.C.v.d.W.), Radboud University Medical Center, Nijmegen, the Netherlands; and Division of Neurodegenerative Diseases (R.S.), Department of Neurology, Heidelberg University Hospital, Germany., Coarelli G; Division Translational Genomics of Neurodegenerative Diseases (L.B., A.T., D.M., M.S.), Hertie-Institute for Clinical Brain Research and Center for Neurology, and German Center for Neurodegenerative Diseases (DZNE) (L.B., A.T., D.M., K.D.-J., M.S., R.S.), University of Tübingen; Section Computational Sensomotorics (J.S., W.I.), Hertie Institute for Clinical Brain Research; Centre for Integrative Neuroscience (CIN) (J.S., W.I.); Department of Neurodegenerative Diseases (C.K.), Hertie-Institute for Clinical Brain Research and Center for Neurology, University of Tübingen; Center for Neurology and Hertie Institute for Clinical Brain Research (K.D.-J., R.S.), University Hospital Tübingen, Germany; Molecular Medicine (I.R., S.S.), IRCCS Fondazione Stella Maris, Pisa, Italy; Koç University (N.A.B.), Translational Medicine Research Center, KUTTAM-NDAL, Istanbul, Turkey; Sorbonne Université (G.C.), Paris Brain Institute, INSERM, CNRS, APHP, France; Department of Neurology and Center for Translational Neuro- and Behavioral Sciences (D.T.), University Hospital Essen, University of Duisburg-Essen, Germany; Groupe de recherche interdisciplinaire sur les maladies neuromusculaires (GRIMN) (C.G.), Centre intégré universitaire de santé et de services sociaux du Saguenay-Lac-St-Jean; Centre de recherche du Centre intégré universitaire de santé et de services sociaux du Saguenay-Lac-St-Jean (C.G.); Faculté de médecine et des sciences de la santé (C.G.), Université de Sherbrooke, Québec, Canada; Department of Neurology (B.P.C.v.d.W.), Radboud University Medical Center, Nijmegen, the Netherlands; and Division of Neurodegenerative Diseases (R.S.), Department of Neurology, Heidelberg University Hospital, Germany., Timmann D; Division Translational Genomics of Neurodegenerative Diseases (L.B., A.T., D.M., M.S.), Hertie-Institute for Clinical Brain Research and Center for Neurology, and German Center for Neurodegenerative Diseases (DZNE) (L.B., A.T., D.M., K.D.-J., M.S., R.S.), University of Tübingen; Section Computational Sensomotorics (J.S., W.I.), Hertie Institute for Clinical Brain Research; Centre for Integrative Neuroscience (CIN) (J.S., W.I.); Department of Neurodegenerative Diseases (C.K.), Hertie-Institute for Clinical Brain Research and Center for Neurology, University of Tübingen; Center for Neurology and Hertie Institute for Clinical Brain Research (K.D.-J., R.S.), University Hospital Tübingen, Germany; Molecular Medicine (I.R., S.S.), IRCCS Fondazione Stella Maris, Pisa, Italy; Koç University (N.A.B.), Translational Medicine Research Center, KUTTAM-NDAL, Istanbul, Turkey; Sorbonne Université (G.C.), Paris Brain Institute, INSERM, CNRS, APHP, France; Department of Neurology and Center for Translational Neuro- and Behavioral Sciences (D.T.), University Hospital Essen, University of Duisburg-Essen, Germany; Groupe de recherche interdisciplinaire sur les maladies neuromusculaires (GRIMN) (C.G.), Centre intégré universitaire de santé et de services sociaux du Saguenay-Lac-St-Jean; Centre de recherche du Centre intégré universitaire de santé et de services sociaux du Saguenay-Lac-St-Jean (C.G.); Faculté de médecine et des sciences de la santé (C.G.), Université de Sherbrooke, Québec, Canada; Department of Neurology (B.P.C.v.d.W.), Radboud University Medical Center, Nijmegen, the Netherlands; and Division of Neurodegenerative Diseases (R.S.), Department of Neurology, Heidelberg University Hospital, Germany., Gagnon C; Division Translational Genomics of Neurodegenerative Diseases (L.B., A.T., D.M., M.S.), Hertie-Institute for Clinical Brain Research and Center for Neurology, and German Center for Neurodegenerative Diseases (DZNE) (L.B., A.T., D.M., K.D.-J., M.S., R.S.), University of Tübingen; Section Computational Sensomotorics (J.S., W.I.), Hertie Institute for Clinical Brain Research; Centre for Integrative Neuroscience (CIN) (J.S., W.I.); Department of Neurodegenerative Diseases (C.K.), Hertie-Institute for Clinical Brain Research and Center for Neurology, University of Tübingen; Center for Neurology and Hertie Institute for Clinical Brain Research (K.D.-J., R.S.), University Hospital Tübingen, Germany; Molecular Medicine (I.R., S.S.), IRCCS Fondazione Stella Maris, Pisa, Italy; Koç University (N.A.B.), Translational Medicine Research Center, KUTTAM-NDAL, Istanbul, Turkey; Sorbonne Université (G.C.), Paris Brain Institute, INSERM, CNRS, APHP, France; Department of Neurology and Center for Translational Neuro- and Behavioral Sciences (D.T.), University Hospital Essen, University of Duisburg-Essen, Germany; Groupe de recherche interdisciplinaire sur les maladies neuromusculaires (GRIMN) (C.G.), Centre intégré universitaire de santé et de services sociaux du Saguenay-Lac-St-Jean; Centre de recherche du Centre intégré universitaire de santé et de services sociaux du Saguenay-Lac-St-Jean (C.G.); Faculté de médecine et des sciences de la santé (C.G.), Université de Sherbrooke, Québec, Canada; Department of Neurology (B.P.C.v.d.W.), Radboud University Medical Center, Nijmegen, the Netherlands; and Division of Neurodegenerative Diseases (R.S.), Department of Neurology, Heidelberg University Hospital, Germany., van de Warrenburg BPC; Division Translational Genomics of Neurodegenerative Diseases (L.B., A.T., D.M., M.S.), Hertie-Institute for Clinical Brain Research and Center for Neurology, and German Center for Neurodegenerative Diseases (DZNE) (L.B., A.T., D.M., K.D.-J., M.S., R.S.), University of Tübingen; Section Computational Sensomotorics (J.S., W.I.), Hertie Institute for Clinical Brain Research; Centre for Integrative Neuroscience (CIN) (J.S., W.I.); Department of Neurodegenerative Diseases (C.K.), Hertie-Institute for Clinical Brain Research and Center for Neurology, University of Tübingen; Center for Neurology and Hertie Institute for Clinical Brain Research (K.D.-J., R.S.), University Hospital Tübingen, Germany; Molecular Medicine (I.R., S.S.), IRCCS Fondazione Stella Maris, Pisa, Italy; Koç University (N.A.B.), Translational Medicine Research Center, KUTTAM-NDAL, Istanbul, Turkey; Sorbonne Université (G.C.), Paris Brain Institute, INSERM, CNRS, APHP, France; Department of Neurology and Center for Translational Neuro- and Behavioral Sciences (D.T.), University Hospital Essen, University of Duisburg-Essen, Germany; Groupe de recherche interdisciplinaire sur les maladies neuromusculaires (GRIMN) (C.G.), Centre intégré universitaire de santé et de services sociaux du Saguenay-Lac-St-Jean; Centre de recherche du Centre intégré universitaire de santé et de services sociaux du Saguenay-Lac-St-Jean (C.G.); Faculté de médecine et des sciences de la santé (C.G.), Université de Sherbrooke, Québec, Canada; Department of Neurology (B.P.C.v.d.W.), Radboud University Medical Center, Nijmegen, the Netherlands; and Division of Neurodegenerative Diseases (R.S.), Department of Neurology, Heidelberg University Hospital, Germany., Ilg W; Division Translational Genomics of Neurodegenerative Diseases (L.B., A.T., D.M., M.S.), Hertie-Institute for Clinical Brain Research and Center for Neurology, and German Center for Neurodegenerative Diseases (DZNE) (L.B., A.T., D.M., K.D.-J., M.S., R.S.), University of Tübingen; Section Computational Sensomotorics (J.S., W.I.), Hertie Institute for Clinical Brain Research; Centre for Integrative Neuroscience (CIN) (J.S., W.I.); Department of Neurodegenerative Diseases (C.K.), Hertie-Institute for Clinical Brain Research and Center for Neurology, University of Tübingen; Center for Neurology and Hertie Institute for Clinical Brain Research (K.D.-J., R.S.), University Hospital Tübingen, Germany; Molecular Medicine (I.R., S.S.), IRCCS Fondazione Stella Maris, Pisa, Italy; Koç University (N.A.B.), Translational Medicine Research Center, KUTTAM-NDAL, Istanbul, Turkey; Sorbonne Université (G.C.), Paris Brain Institute, INSERM, CNRS, APHP, France; Department of Neurology and Center for Translational Neuro- and Behavioral Sciences (D.T.), University Hospital Essen, University of Duisburg-Essen, Germany; Groupe de recherche interdisciplinaire sur les maladies neuromusculaires (GRIMN) (C.G.), Centre intégré universitaire de santé et de services sociaux du Saguenay-Lac-St-Jean; Centre de recherche du Centre intégré universitaire de santé et de services sociaux du Saguenay-Lac-St-Jean (C.G.); Faculté de médecine et des sciences de la santé (C.G.), Université de Sherbrooke, Québec, Canada; Department of Neurology (B.P.C.v.d.W.), Radboud University Medical Center, Nijmegen, the Netherlands; and Division of Neurodegenerative Diseases (R.S.), Department of Neurology, Heidelberg University Hospital, Germany., Synofzik M; Division Translational Genomics of Neurodegenerative Diseases (L.B., A.T., D.M., M.S.), Hertie-Institute for Clinical Brain Research and Center for Neurology, and German Center for Neurodegenerative Diseases (DZNE) (L.B., A.T., D.M., K.D.-J., M.S., R.S.), University of Tübingen; Section Computational Sensomotorics (J.S., W.I.), Hertie Institute for Clinical Brain Research; Centre for Integrative Neuroscience (CIN) (J.S., W.I.); Department of Neurodegenerative Diseases (C.K.), Hertie-Institute for Clinical Brain Research and Center for Neurology, University of Tübingen; Center for Neurology and Hertie Institute for Clinical Brain Research (K.D.-J., R.S.), University Hospital Tübingen, Germany; Molecular Medicine (I.R., S.S.), IRCCS Fondazione Stella Maris, Pisa, Italy; Koç University (N.A.B.), Translational Medicine Research Center, KUTTAM-NDAL, Istanbul, Turkey; Sorbonne Université (G.C.), Paris Brain Institute, INSERM, CNRS, APHP, France; Department of Neurology and Center for Translational Neuro- and Behavioral Sciences (D.T.), University Hospital Essen, University of Duisburg-Essen, Germany; Groupe de recherche interdisciplinaire sur les maladies neuromusculaires (GRIMN) (C.G.), Centre intégré universitaire de santé et de services sociaux du Saguenay-Lac-St-Jean; Centre de recherche du Centre intégré universitaire de santé et de services sociaux du Saguenay-Lac-St-Jean (C.G.); Faculté de médecine et des sciences de la santé (C.G.), Université de Sherbrooke, Québec, Canada; Department of Neurology (B.P.C.v.d.W.), Radboud University Medical Center, Nijmegen, the Netherlands; and Division of Neurodegenerative Diseases (R.S.), Department of Neurology, Heidelberg University Hospital, Germany., Schüle R; Division Translational Genomics of Neurodegenerative Diseases (L.B., A.T., D.M., M.S.), Hertie-Institute for Clinical Brain Research and Center for Neurology, and German Center for Neurodegenerative Diseases (DZNE) (L.B., A.T., D.M., K.D.-J., M.S., R.S.), University of Tübingen; Section Computational Sensomotorics (J.S., W.I.), Hertie Institute for Clinical Brain Research; Centre for Integrative Neuroscience (CIN) (J.S., W.I.); Department of Neurodegenerative Diseases (C.K.), Hertie-Institute for Clinical Brain Research and Center for Neurology, University of Tübingen; Center for Neurology and Hertie Institute for Clinical Brain Research (K.D.-J., R.S.), University Hospital Tübingen, Germany; Molecular Medicine (I.R., S.S.), IRCCS Fondazione Stella Maris, Pisa, Italy; Koç University (N.A.B.), Translational Medicine Research Center, KUTTAM-NDAL, Istanbul, Turkey; Sorbonne Université (G.C.), Paris Brain Institute, INSERM, CNRS, APHP, France; Department of Neurology and Center for Translational Neuro- and Behavioral Sciences (D.T.), University Hospital Essen, University of Duisburg-Essen, Germany; Groupe de recherche interdisciplinaire sur les maladies neuromusculaires (GRIMN) (C.G.), Centre intégré universitaire de santé et de services sociaux du Saguenay-Lac-St-Jean; Centre de recherche du Centre intégré universitaire de santé et de services sociaux du Saguenay-Lac-St-Jean (C.G.); Faculté de médecine et des sciences de la santé (C.G.), Université de Sherbrooke, Québec, Canada; Department of Neurology (B.P.C.v.d.W.), Radboud University Medical Center, Nijmegen, the Netherlands; and Division of Neurodegenerative Diseases (R.S.), Department of Neurology, Heidelberg University Hospital, Germany.
Publikováno v:
Neurology [Neurology] 2024 Dec 24; Vol. 103 (12), pp. e209887. Date of Electronic Publication: 2024 Dec 02.
Autor:
Kavishwar M; Paediatrics, Topiwala National Medical College & B. Y. L. Nair Charitable Hospital, Mumbai, Maharashtra, India., Bisen P; Paediatrics, Topiwala National Medical College & B. Y. L. Nair Charitable Hospital, Mumbai, Maharashtra, India., Baheti S; Paediatrics, Topiwala National Medical College & B. Y. L. Nair Charitable Hospital, Mumbai, Maharashtra, India., Wade P; Paediatrics, Topiwala National Medical College & B. Y. L. Nair Charitable Hospital, Mumbai, Maharashtra, India poonamwade@gmail.com.
Publikováno v:
BMJ case reports [BMJ Case Rep] 2024 Dec 16; Vol. 17 (12). Date of Electronic Publication: 2024 Dec 16.
Autor:
Sun T; Neurobiology & Mitochondrial Key Laboratory, Effective & Toxicity Monitoring Innovative Practice Center for Food Pharmaceutical Specialty, School of Pharmacy, Jiangsu University, Zhenjiang 212013, China., Chen B; Neurobiology & Mitochondrial Key Laboratory, Effective & Toxicity Monitoring Innovative Practice Center for Food Pharmaceutical Specialty, School of Pharmacy, Jiangsu University, Zhenjiang 212013, China., Zhang D; Neurobiology & Mitochondrial Key Laboratory, Effective & Toxicity Monitoring Innovative Practice Center for Food Pharmaceutical Specialty, School of Pharmacy, Jiangsu University, Zhenjiang 212013, China., Xu X; Neurobiology & Mitochondrial Key Laboratory, Effective & Toxicity Monitoring Innovative Practice Center for Food Pharmaceutical Specialty, School of Pharmacy, Jiangsu University, Zhenjiang 212013, China., Gao J; Neurobiology & Mitochondrial Key Laboratory, Effective & Toxicity Monitoring Innovative Practice Center for Food Pharmaceutical Specialty, School of Pharmacy, Jiangsu University, Zhenjiang 212013, China., Sun J; Neurobiology & Mitochondrial Key Laboratory, Effective & Toxicity Monitoring Innovative Practice Center for Food Pharmaceutical Specialty, School of Pharmacy, Jiangsu University, Zhenjiang 212013, China. Electronic address: sjyancheng@aliyun.com., Wei M; Department of Laboratory Medicine, Ren Ji Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China. Electronic address: wmy2940@163.com.
Publikováno v:
Stem cell research [Stem Cell Res] 2024 Dec; Vol. 81, pp. 103535. Date of Electronic Publication: 2024 Aug 13.