Zobrazeno 1 - 10
of 11 261
pro vyhledávání: '"spastic paraplegia"'
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.
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:
Akram R; Neurochemicalbiology and Genetics Laboratory (NGL), Department of Physiology, Faculty of Life Sciences, Government College University, Faisalabad 38000, Pakistan.; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Anwar H; Neurochemicalbiology and Genetics Laboratory (NGL), Department of Physiology, Faculty of Life Sciences, Government College University, Faisalabad 38000, Pakistan., Muzaffar H; Neurochemicalbiology and Genetics Laboratory (NGL), Department of Physiology, Faculty of Life Sciences, Government College University, Faisalabad 38000, Pakistan., Turchetti V; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Lau T; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Vona B; Institute of Human Genetics, University Medical Center Göttingen, 37073 Göttingen, Germany.; Institute for Auditory Neuroscience and InnerEarLab, University Medical Center Göttingen, 37075 Göttingen, Germany., Makhdoom EUH; Neurochemicalbiology and Genetics Laboratory (NGL), Department of Physiology, Faculty of Life Sciences, Government College University, Faisalabad 38000, Pakistan.; Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, Faisalabad 38000, Pakistan., Iqbal J; Department of Neurology, Allied Hospital, Faisalabad Medical University, Faisalabad 38000, Pakistan., Mahmood Baig S; Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, Faisalabad 38000, Pakistan.; Department of Biological and Biomedical Sciences, Aga Khan University, Stadium Road, Karachi 74000, Pakistan., Hussain G; Neurochemicalbiology and Genetics Laboratory (NGL), Department of Physiology, Faculty of Life Sciences, Government College University, Faisalabad 38000, Pakistan., Efthymiou S; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Houlden H; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.
Publikováno v:
Genes [Genes (Basel)] 2024 Sep 13; Vol. 15 (9). Date of Electronic Publication: 2024 Sep 13.
Autor:
Saibaba J; Neurology, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, Tamil Nadu, India., Narayan SK; Neurology, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, Tamil Nadu, India., Sugumaran R; Neurology, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, Tamil Nadu, India ramkumar.sugumaran@gmail.com.
Publikováno v:
Practical neurology [Pract Neurol] 2024 Sep 13; Vol. 24 (5), pp. 434-435. Date of Electronic Publication: 2024 Sep 13.
Autor:
Nakamura H; Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-Ku, Yokohama, 236-0004, Japan., Doi H; Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-Ku, Yokohama, 236-0004, Japan. hdoi@yokohama-cu.ac.jp., Miyaji Y; Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-Ku, Yokohama, 236-0004, Japan., Wada T; Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-Ku, Yokohama, 236-0004, Japan., Takahashi E; Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-Ku, Yokohama, 236-0004, Japan., Tada M; Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-Ku, Yokohama, 236-0004, Japan., Fukuda H; Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-Ku, Yokohama, 236-0004, Japan., Fujita A; Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-Ku, Yokohama, 236-0004, Japan., Higashiyama Y; Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-Ku, Yokohama, 236-0004, Japan., Nagao Y; Segawa Memorial Neurological Clinic for Children, 2-8 Kandasurugadai, Chiyoda-Ku, Tokyo, 101-0062, Japan., Kimura K; Segawa Memorial Neurological Clinic for Children, 2-8 Kandasurugadai, Chiyoda-Ku, Tokyo, 101-0062, Japan., Hayashi M; Segawa Memorial Neurological Clinic for Children, 2-8 Kandasurugadai, Chiyoda-Ku, Tokyo, 101-0062, Japan., Hoshino K; Segawa Memorial Neurological Clinic for Children, 2-8 Kandasurugadai, Chiyoda-Ku, Tokyo, 101-0062, Japan., Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-Ku, Yokohama, 236-0004, Japan., Tanaka F; Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-Ku, Yokohama, 236-0004, Japan. ftanaka@yokohama-cu.ac.jp.
Publikováno v:
BMC neurology [BMC Neurol] 2024 Sep 04; Vol. 24 (1), pp. 310. Date of Electronic Publication: 2024 Sep 04.
Autor:
Jin YH; Department of Cell Biology, The School of Life Sciences, Central South University, Changsha, 410013, China., Xiang YZ; Department of Cell Biology, The School of Life Sciences, Central South University, Changsha, 410013, China., Zhao MF; Department of Cell Biology, The School of Life Sciences, Central South University, Changsha, 410013, China., Liu YH; Department of Neurology, Affiliated Hospital of Yangzhou University, Yangzhou, 225001, China., Fan LL; Department of Cell Biology, The School of Life Sciences, Central South University, Changsha, 410013, China. swfanliangliang@csu.edu.cn., Li XC; Department of Neurology, Affiliated Hospital of Yangzhou University, Yangzhou, 225001, China. leeshawnc@outlook.com.
Publikováno v:
Molecular biology reports [Mol Biol Rep] 2024 Sep 04; Vol. 51 (1), pp. 951. Date of Electronic Publication: 2024 Sep 04.
Autor:
Hamamie-Chaar A; Department of Clinical Genetics, Dijon University Hospital, Dijon, France., Renaud M; Department of Clinical Genetics, CHRU Nancy, Nancy, France.; INSERM-U1256 NGERE, Université de Lorraine, Nancy, France., Gençpinar P; Department of Pediatric Neurology, İzmir Katip Çelebi University, Izmir, Turkey., Bruel AL; Inserm UMR1231 Team GAD, University of Burgundy and Franche-Comté, Dijon, France., Philippe C; Inserm UMR1231 Team GAD, University of Burgundy and Franche-Comté, Dijon, France., Maraval J; Department of Clinical Genetics, Dijon University Hospital, Dijon, France., Racine C; Department of Clinical Genetics, Dijon University Hospital, Dijon, France., Hadouiri N; Department of Clinical Genetics, Dijon University Hospital, Dijon, France.; Inserm UMR1231 Team GAD, University of Burgundy and Franche-Comté, Dijon, France., Lambert L; Department of Clinical Genetics, CHRU Nancy, Nancy, France.; INSERM-U1256 NGERE, Université de Lorraine, Nancy, France., Schmitt E; INSERM-U1256 NGERE, Université de Lorraine, Nancy, France., Banneau G; Department of Clinical Genetics, CHU Toulouse, Toulouse, France.; Pitié-Salpêtrière, Department of Genetics, Sorbonne Université, AP-HP, Paris, France., Hocquel A; Department of Clinical Genetics, CHRU Nancy, Nancy, France., Thauvin-Robinet C; Department of Clinical Genetics, Dijon University Hospital, Dijon, France.; Inserm UMR1231 Team GAD, University of Burgundy and Franche-Comté, Dijon, France., Faivre L; Department of Clinical Genetics, Dijon University Hospital, Dijon, France.; Inserm UMR1231 Team GAD, University of Burgundy and Franche-Comté, Dijon, France., Thomas Q; Department of Clinical Genetics, Dijon University Hospital, Dijon, France. quentin.thomas@chu-dijon.fr.; Inserm UMR1231 Team GAD, University of Burgundy and Franche-Comté, Dijon, France. quentin.thomas@chu-dijon.fr.
Publikováno v:
Journal of neurology [J Neurol] 2024 Sep; Vol. 271 (9), pp. 6343-6348. Date of Electronic Publication: 2024 Jul 13.
Autor:
Fortier M; Sorbonne Université, Paris Brain Institute (ICM Institut du Cerveau), INSERM U1127, CNRS UMR 7225, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France., Cauhapé M; Sorbonne Université, Paris Brain Institute (ICM Institut du Cerveau), INSERM U1127, CNRS UMR 7225, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France., Buono S; Dynacure SA (now Flamingo Therapeutics NV), Illkirch, France., Becker J; Dynacure SA (now Flamingo Therapeutics NV), Illkirch, France., Menuet A; Dynacure SA (now Flamingo Therapeutics NV), Illkirch, France., Branchu J; Sorbonne Université, Paris Brain Institute (ICM Institut du Cerveau), INSERM U1127, CNRS UMR 7225, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France., Ricca I; Molecular Medicine, IRCCS Fondazione Stella Maris, 56128 Pisa, Italy., Mero S; Molecular Medicine, IRCCS Fondazione Stella Maris, 56128 Pisa, Italy., Dorgham K; Sorbonne Université, INSERM, Centre d'Immunologie et des Maladies Infectieuses-Paris (CIMI-Paris), Paris, France., El Hachimi KH; Sorbonne Université, Paris Brain Institute (ICM Institut du Cerveau), INSERM U1127, CNRS UMR 7225, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France; EPHE, PSL Research University, Paris, France., Dobrenis K; Dominick P. Purpura Department of Neuroscience, Albert Einstein College of Medicine, Bronx, NY 10461, USA., Colsch B; Université Paris-Saclay, CEA, INRAE, Département Médicaments et Technologies pour la Santé, MetaboHUB, Gif sur Yvette, France., Samaroo D; Sorbonne Université, Paris Brain Institute (ICM Institut du Cerveau), INSERM U1127, CNRS UMR 7225, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France., Devaux M; Sorbonne Université, Paris Brain Institute (ICM Institut du Cerveau), INSERM U1127, CNRS UMR 7225, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France., Durr A; Sorbonne Université, Paris Brain Institute (ICM Institut du Cerveau), INSERM U1127, CNRS UMR 7225, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France., Stevanin G; Sorbonne Université, Paris Brain Institute (ICM Institut du Cerveau), INSERM U1127, CNRS UMR 7225, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France; EPHE, PSL Research University, Paris, France; University of Bordeaux, CNRS, INCIA, UMR 5287, NRGen Team, Bordeaux, France., Santorelli FM; Molecular Medicine, IRCCS Fondazione Stella Maris, 56128 Pisa, Italy., Colombo S; Dynacure SA (now Flamingo Therapeutics NV), Illkirch, France., Cowling B; Dynacure SA (now Flamingo Therapeutics NV), Illkirch, France., Darios F; Sorbonne Université, Paris Brain Institute (ICM Institut du Cerveau), INSERM U1127, CNRS UMR 7225, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France. Electronic address: frederic.darios@icm-institute.org.
Publikováno v:
Neurobiology of disease [Neurobiol Dis] 2024 Sep; Vol. 199, pp. 106564. Date of Electronic Publication: 2024 Jun 12.