Zobrazeno 1 - 10
of 3 875
pro vyhledávání: '"Myoclonic Epilepsies"'
Autor:
Elena D. Belousova
Publikováno v:
Alʹmanah Kliničeskoj Mediciny, Vol 50, Iss 5, Pp 329-334 (2022)
The progressive myoclonic epilepsies syndrome (PME) is a heterogeneous group of genetic disorders characterized by myoclonus, progressive motor and cognitive abnormalities, sensory and cerebellar symptoms, abnormal slowing of the basic bioelectrical
Externí odkaz:
https://doaj.org/article/ddbb186af48b4673b6ae07b043ad5795
Autor:
Liu Y; Department of Neurology and Institute of Neurology of First Affiliated Hospital, Institute of Neuroscience, And Fujian Key Laboratory of Molecular Neurology, Fujian Medical University, Fuzhou, 350005, China., Cai N; Department of Neurology and Institute of Neurology of First Affiliated Hospital, Institute of Neuroscience, And Fujian Key Laboratory of Molecular Neurology, Fujian Medical University, Fuzhou, 350005, China., Xu F; Department of Neurology and Institute of Neurology of First Affiliated Hospital, Institute of Neuroscience, And Fujian Key Laboratory of Molecular Neurology, Fujian Medical University, Fuzhou, 350005, China., Shi Y; Department of Neurology and Institute of Neurology of First Affiliated Hospital, Institute of Neuroscience, And Fujian Key Laboratory of Molecular Neurology, Fujian Medical University, Fuzhou, 350005, China., Wang Z; Department of Neurology and Institute of Neurology of First Affiliated Hospital, Institute of Neuroscience, And Fujian Key Laboratory of Molecular Neurology, Fujian Medical University, Fuzhou, 350005, China., Wang N; Department of Neurology and Institute of Neurology of First Affiliated Hospital, Institute of Neuroscience, And Fujian Key Laboratory of Molecular Neurology, Fujian Medical University, Fuzhou, 350005, China., Chen W; Department of Neurology and Institute of Neurology of First Affiliated Hospital, Institute of Neuroscience, And Fujian Key Laboratory of Molecular Neurology, Fujian Medical University, Fuzhou, 350005, China. Electronic address: wanjinchen75@fjmu.edu.cn., Yang K; Department of Neurology and Institute of Neurology of First Affiliated Hospital, Institute of Neuroscience, And Fujian Key Laboratory of Molecular Neurology, Fujian Medical University, Fuzhou, 350005, China. Electronic address: ykang319@fjmu.edu.cn.
Publikováno v:
Parkinsonism & related disorders [Parkinsonism Relat Disord] 2024 Oct; Vol. 127, pp. 107085. Date of Electronic Publication: 2024 Aug 09.
Autor:
Chen X; The Second Affiliated Hospital, Jiangxi Medical College, Nanchang University, Nanchang, China., Xiang W; The Second Affiliated Hospital, Jiangxi Medical College, Nanchang University, Nanchang, China., Xu L; The Second Affiliated Hospital, Jiangxi Medical College, Nanchang University, Nanchang, China., Zhao J; The Second Affiliated Hospital, Jiangxi Medical College, Nanchang University, Nanchang, China., Yu Y; The Second Affiliated Hospital, Jiangxi Medical College, Nanchang University, Nanchang, China., Ke Q; The Second Affiliated Hospital, Jiangxi Medical College, Nanchang University, Nanchang, China.; The First Affiliated Hospital of Zhejiang University School of Medicine, Hangzhou, China., Liu Z; The Second Affiliated Hospital, Jiangxi Medical College, Nanchang University, Nanchang, China., Gan L; The Second Affiliated Hospital, Jiangxi Medical College, Nanchang University, Nanchang, China. ndefy12374@ncu.edu.cn.
Publikováno v:
Journal of medical case reports [J Med Case Rep] 2024 Sep 06; Vol. 18 (1), pp. 429. Date of Electronic Publication: 2024 Sep 06.
Autor:
Bavdhankar K; Department of Neurology, Seth GS Medical College and KEM Hospital, Mumbai, India., Jain N; Department of Neurology, Seth GS Medical College and KEM Hospital, Mumbai, India., Thakkar M; Department of Neurology, Seth GS Medical College and KEM Hospital, Mumbai, India., Maheshkar P; Department of Neurology, Seth GS Medical College and KEM Hospital, Mumbai, India., Joshi R; Department of Neurology, Seth GS Medical College and KEM Hospital, Mumbai, India., Gudhate A; Department of Neurology, Seth GS Medical College and KEM Hospital, Mumbai, India., Ravat SH; Department of Neurology, Seth GS Medical College and KEM Hospital, Mumbai, India., Agarwal PA; Department of Neurology, Seth GS Medical College and KEM Hospital, Mumbai, India.; Department of Neurology, Movement Disorders Clinic, Gleneagles Global Hospitals, Mumbai, India.
Publikováno v:
Movement disorders clinical practice [Mov Disord Clin Pract] 2024 Aug; Vol. 11 Suppl 2, pp. S17-S20. Date of Electronic Publication: 2024 Mar 18.
Autor:
Polet SS; Department of Neurology, University Medical Center Groningen, University of Groningen, 30.001 AB51, Groningen 9700 RB, the Netherlands; Expertise Center Movement Disorders Groningen, University Medical Center Groningen, University of Groningen, 30.001 AB51, Groningen 9700 RB, the Netherlands. Electronic address: s.s.polet@umcg.nl., de Koning TJ; Expertise Center Movement Disorders Groningen, University Medical Center Groningen, University of Groningen, 30.001 AB51, Groningen 9700 RB, the Netherlands; Department of Neurology and Medical Genetics, University Medical Center Groningen, University of Groningen, 30.001 AB51, Groningen 9700 RB, the Netherlands; Department of Clinical Sciences, Pediatrics, Lund University, Lund BMC I12, 221 84, Sweden., Lambrechts RA; Expertise Center Movement Disorders Groningen, University Medical Center Groningen, University of Groningen, 30.001 AB51, Groningen 9700 RB, the Netherlands; Department of Neurology, University Medical Center Groningen, University of Groningen, 30.001 AB51, Groningen 9700 RB, the Netherlands., Tijssen MAJ; Expertise Center Movement Disorders Groningen, University Medical Center Groningen, University of Groningen, 30.001 AB51, Groningen 9700 RB, the Netherlands; Department of Neurology, University Medical Center Groningen, University of Groningen, 30.001 AB51, Groningen 9700 RB, the Netherlands., Sibon OCM; Expertise Center Movement Disorders Groningen, University Medical Center Groningen, University of Groningen, 30.001 AB51, Groningen 9700 RB, the Netherlands; Department of Biomedical Sciences (BMS), University Medical Center Groningen, University of Groningen, 30.001 FB32, Groningen 9700 AD, the Netherlands., Gorter JA; Expertise Center Movement Disorders Groningen, University Medical Center Groningen, University of Groningen, 30.001 AB51, Groningen 9700 RB, the Netherlands; Department of Biomedical Sciences (BMS), University Medical Center Groningen, University of Groningen, 30.001 FB32, Groningen 9700 AD, the Netherlands.
Publikováno v:
Epilepsy research [Epilepsy Res] 2024 Jul; Vol. 203, pp. 107380. Date of Electronic Publication: 2024 May 14.
Autor:
Fan S; McKusick-Zhang Center for Genetic Medicine, State Key Laboratory for Complex Severe and Rare Diseases, Institute of Basic Medical Sciences Chinese Academy of Medical Sciences, School of Basic Medicine Peking Union Medical College, Beijing, China., Tang K; McKusick-Zhang Center for Genetic Medicine, State Key Laboratory for Complex Severe and Rare Diseases, Institute of Basic Medical Sciences Chinese Academy of Medical Sciences, School of Basic Medicine Peking Union Medical College, Beijing, China., Chen J; Department of Neurology, the Affiliated Hospital of Capital Institute of Pediatrics, Beijing, China., Sun M; McKusick-Zhang Center for Genetic Medicine, State Key Laboratory for Complex Severe and Rare Diseases, Institute of Basic Medical Sciences Chinese Academy of Medical Sciences, School of Basic Medicine Peking Union Medical College, Beijing, China. Electronic address: miaosun@ibms.pumc.edu.cn., Chen Q; Department of Neurology, the Affiliated Hospital of Capital Institute of Pediatrics, Beijing, China. Electronic address: chenqianxhl@163.com.
Publikováno v:
Gene [Gene] 2024 Dec 30; Vol. 931, pp. 148881. Date of Electronic Publication: 2024 Aug 23.
Akademický článek
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Autor:
G S B Lima PL; Faculty of Medicine, Federal University of Ceara, Fortaleza, Ceara, Brazil., Nobrega PR; Division of Neurology, Federal University of Ceara, Fortaleza, Ceara, Brazil.; Centro Universitário Christus, Fortaleza, Ceara, Brazil., Freua F; Neurogenetics Center, Department of Neurology, University of Sao Paulo, Sao Paulo, Brazil., Braga-Neto P; Division of Neurology, Federal University of Ceara, Fortaleza, Ceara, Brazil., Paiva ARB; Neurogenetics Center, Department of Neurology, University of Sao Paulo, Sao Paulo, Brazil., Guimarães TG; Movement Disorders Center, Department of Neurology, University of Sao Paulo, Av. Dr. Eneas de Carvalho Aguiar, 255, 5th Floor, Room 5084, Cerqueira Cesar, Sao Paulo, Sao Paulo, 05403-900, Brazil. thiagogguimaraesneurologia@gmail.com., Kok F; Neurogenetics Center, Department of Neurology, University of Sao Paulo, Sao Paulo, Brazil.
Publikováno v:
BMC neurology [BMC Neurol] 2024 May 23; Vol. 24 (1), pp. 169. Date of Electronic Publication: 2024 May 23.
Autor:
Ilyas M; University Institute of Biochemistry and Biotechnology, (PMAS) Pir Mehr Ali Shah Arid Agriculture University Rawalpindi, Pakistan; Department of Medical Laboratory Technology, Riphah International University, Malakand Campus, Khyber Pakhtunkhwa, Pakistan., Tariq F; University Institute of Biochemistry and Biotechnology, (PMAS) Pir Mehr Ali Shah Arid Agriculture University Rawalpindi, Pakistan., Ishaq R; University Institute of Biochemistry and Biotechnology, (PMAS) Pir Mehr Ali Shah Arid Agriculture University Rawalpindi, Pakistan., Habiba U; University Institute of Biochemistry and Biotechnology, (PMAS) Pir Mehr Ali Shah Arid Agriculture University Rawalpindi, Pakistan., Bibi F; University Institute of Biochemistry and Biotechnology, (PMAS) Pir Mehr Ali Shah Arid Agriculture University Rawalpindi, Pakistan., Khan SN; Department of Medical Laboratory Technology, University of Haripur, Khyber Pakhtunkhwa, Pakistan., Ali Y; Institute of Chemistry, Solvak Academy of Sciences, 84538 Bratislava, Slovakia., Haider S; Wah Medical College, Izzat Ali Shah Hospital, Maternal and Child Health Centre, Wah Cantt, Pakistan., Efthymiou S; Department of Neuromuscular disorders, UCL Institute of Neurology, London., Abdullah U; University Institute of Biochemistry and Biotechnology, (PMAS) Pir Mehr Ali Shah Arid Agriculture University Rawalpindi, Pakistan., Raja GK; University Institute of Biochemistry and Biotechnology, (PMAS) Pir Mehr Ali Shah Arid Agriculture University Rawalpindi, Pakistan., Shaiq PA; University Institute of Biochemistry and Biotechnology, (PMAS) Pir Mehr Ali Shah Arid Agriculture University Rawalpindi, Pakistan. Electronic address: pakeezaarzoo@uaar.edu.pk.
Publikováno v:
Epilepsy research [Epilepsy Res] 2024 Mar; Vol. 201, pp. 107283. Date of Electronic Publication: 2023 Dec 17.