Zobrazeno 1 - 10 of 8 817 pro vyhledávání: '"Engel, Ag"'
1
Akademický článek
Advancing the Understanding of Vesicle-Associated Membrane Protein 1-Related Congenital Myasthenic Syndrome: Phenotypic Insights, Favorable Response to 3,4-Diaminopyridine, and Clinical Characterization of Five New Cases.
Autor: Natera-de Benito D; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain; Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain. Electronic address: daniel.natera@sjd.es., Pugliese A; IRCCS Centro Neurolesi 'Bonino-Pulejo', Neurology Unit, Messina, Italy., Polavarapu K; Children' s Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada., Guergueltcheva V; Clinic of Neurology, University Hospital Sofiamed, Sofia University St. Kliment Ohridski, Sofia, Bulgaria., Tournev I; Department of Neurology, University Hospital 'Alexandrovska', Medical University, Sofia, Bulgaria; Department of Cognitive Science and Psychology, New Bulgarian University, Sofia, Bulgaria., Todorova A; Genetic Medico-Diagnostic Laboratory 'Genica', Sofia, Bulgaria; Department of Medical Chemistry and Biochemistry, Sofia Medical University, Sofia, Bulgaria., Afonso Ribeiro J; Neurology Department, Coimbra University Hospital Centre, Coimbra, Portugal., Fernández-Mayoralas DM; Department of Pediatric Neurology, Hospital Universitario Quirónsalud, Madrid, Spain., Ortez C; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain; Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain., Martorell L; Department of Genetic and Molecular Medicine-IPER, Hospital Sant Joan de Déu and Institut de Recerca Sant Joan de Déu, Barcelona, Spain., Estévez-Arias B; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain; Laboratory of Neurogenetics and Molecular Medicine-IPER, Sant Joan de Deu Research Institute, Barcelona, Spain., Matalonga L; Centro Nacional de Análisis Genómico, Barcelona, Spain., Laurie S; Centro Nacional de Análisis Genómico, Barcelona, Spain., Jou C; Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain; Department of Pathology, Hospital Sant Joan de Déu, Barcelona, Spain., Lau J; Children' s Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada., Thompson R; Children' s Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada., Shen X; Department of Neurology and Neuromuscular Research Laboratory, Mayo Clinic, Rochester, Minnesota., Engel AG; Department of Neurology and Neuromuscular Research Laboratory, Mayo Clinic, Rochester, Minnesota., Nascimento A; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain; Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain., Lochmüller H; Children' s Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada; Laboratory of Neurogenetics and Molecular Medicine-IPER, Sant Joan de Deu Research Institute, Barcelona, Spain; Brain and Mind Research Institute, University of Ottawa, Ottawa, Canada; Department of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Faculty of Medicine, Freiburg, Germany., Selcen D; Department of Neurology and Neuromuscular Research Laboratory, Mayo Clinic, Rochester, Minnesota. Electronic address: selcen.duygu@mayo.edu.
Publikováno v: Pediatric neurology [Pediatr Neurol] 2024 Aug; Vol. 157, pp. 5-13. Date of Electronic Publication: 2024 May 09.
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2
Akademický článek
Impaired gating of γ- and ε-AChR respectively causes Escobar syndrome and fast-channel myasthenia.
Autor: Shen XM; Department of Neurology and Neuromuscular Research Laboratory, Mayo Clinic, Rochester, Minnesota, USA., Nakata T; Division of Neurogenetics, Center for Neurological Diseases and Cancer, Nagoya University Graduate School of Medicine, Nagoya, Japan.; Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan., Mizuno S; Department of Pediatrics, Central Hospital, Aichi Human Service Center, Kasugai, Japan., Imoto I; Aichi Cancer Center Research Institute, Nagoya, Japan., Selcen D; Department of Neurology and Neuromuscular Research Laboratory, Mayo Clinic, Rochester, Minnesota, USA., Ohno K; Division of Neurogenetics, Center for Neurological Diseases and Cancer, Nagoya University Graduate School of Medicine, Nagoya, Japan., Engel AG; Department of Neurology and Neuromuscular Research Laboratory, Mayo Clinic, Rochester, Minnesota, USA.
Publikováno v: Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2023 May; Vol. 10 (5), pp. 732-743. Date of Electronic Publication: 2023 Mar 09.
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3
Akademický článek
Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes-A Comprehensive Review.
Autor: Ohno K; Division of Neurogenetics, Center for Neurological Diseases and Cancer, Nagoya University Graduate School of Medicine, Nagoya 466-8550, Japan., Ohkawara B; Division of Neurogenetics, Center for Neurological Diseases and Cancer, Nagoya University Graduate School of Medicine, Nagoya 466-8550, Japan., Shen XM; Department of Neurology and Neuromuscular Research Laboratory, Mayo Clinic, Rochester, MN 55905, USA., Selcen D; Department of Neurology and Neuromuscular Research Laboratory, Mayo Clinic, Rochester, MN 55905, USA., Engel AG; Department of Neurology and Neuromuscular Research Laboratory, Mayo Clinic, Rochester, MN 55905, USA.
Publikováno v: International journal of molecular sciences [Int J Mol Sci] 2023 Feb 13; Vol. 24 (4). Date of Electronic Publication: 2023 Feb 13.
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5
Akademický článek
Treatment of slow-channel congenital myasthenic syndrome in a Thai family with fluoxetine.
Autor: Dejthevaporn C; Division of Neurology, Department of Medicine, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand., Wetchaphanphesat S; Division of Medicine, Burirum Hospital, Burirum, Thailand., Pulkes T; Division of Neurology, Department of Medicine, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand., Rattanasiri S; Clinical Epidemiology Unit, Research Center, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand., Engel AG; Department of Neurology and Muscle Research Laboratory, Mayo Clinic College of Medicine, Rochester, MN, USA., Witoonpanich R; Division of Neurology, Department of Medicine, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand. Electronic address: rawiphanw@gmail.com.
Publikováno v: Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia [J Clin Neurosci] 2022 Feb; Vol. 96, pp. 85-89. Date of Electronic Publication: 2022 Jan 06.
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6
Akademický článek
Duchenne dystrophy: electron microscopic findings pointing to a basic or early abnormality in the plasma membrane of the muscle fiber. 1975.
Autor: Mokri B, Engel AG
Publikováno v: Neurology [Neurology] 1998 Jul; Vol. 51 (1), pp. 1 and 10 pages following.
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8
Akademický článek
Expanding Spectrum of Desmin-Related Myopathy, Long-term Follow-up, and Cardiac Transplantation.
Autor: Shelly S; From the Departments of Neurology (S.S., A.G.E., D.S.), Pediatric and Adolescent Medicine (N.T., J.N.J.), and Cardiovascular Medicine (N.L.P.), Mayo Clinic, Rochester, MN., Talha N; From the Departments of Neurology (S.S., A.G.E., D.S.), Pediatric and Adolescent Medicine (N.T., J.N.J.), and Cardiovascular Medicine (N.L.P.), Mayo Clinic, Rochester, MN., Pereira NL; From the Departments of Neurology (S.S., A.G.E., D.S.), Pediatric and Adolescent Medicine (N.T., J.N.J.), and Cardiovascular Medicine (N.L.P.), Mayo Clinic, Rochester, MN., Engel AG; From the Departments of Neurology (S.S., A.G.E., D.S.), Pediatric and Adolescent Medicine (N.T., J.N.J.), and Cardiovascular Medicine (N.L.P.), Mayo Clinic, Rochester, MN., Johnson JN; From the Departments of Neurology (S.S., A.G.E., D.S.), Pediatric and Adolescent Medicine (N.T., J.N.J.), and Cardiovascular Medicine (N.L.P.), Mayo Clinic, Rochester, MN., Selcen D; From the Departments of Neurology (S.S., A.G.E., D.S.), Pediatric and Adolescent Medicine (N.T., J.N.J.), and Cardiovascular Medicine (N.L.P.), Mayo Clinic, Rochester, MN. selcen.duygu@mayo.edu.
Publikováno v: Neurology [Neurology] 2021 Sep 14; Vol. 97 (11), pp. e1150-e1158. Date of Electronic Publication: 2021 Jul 27.
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9
Akademický článek
Essential neuromuscular advice for pathologists (first of two parts).
Autor: Cotta, Ana1,2 (AUTHOR) ana_cotta@yahoo.com.br, Carvalho, Elmano3 (AUTHOR) 9230@sarah.br, da-Cunha-Júnior, Antonio Lopes4 (AUTHOR) 400564@sarah.br, Antunes, Julio Salgado5 (AUTHOR) antiunes@gmail.com, de Souza, Francineide Sadala5 (AUTHOR) sadalafrancineide@gmail.com, de Moura, Heveline Becker5 (AUTHOR) 10795@sarah.br, de Brito Pinto, Andreia Portilho5 (AUTHOR) 10794@sarah.br, Valicek, Jaquelin3 (AUTHOR) 400585@sarah.br, Navarro, Monica Machado6 (AUTHOR) monicamnavarro@gmail.com, Godinho, Frederico6 (AUTHOR) 11559@sarah.br, da Silveira, Eni Braga7 (AUTHOR) 7341@sarah.br, Lima, Maria Isabel7 (AUTHOR) isabelima62@gmail.com, Cordeiro, Bruno Arrivabene7 (AUTHOR) 12133@sarah.br, Cauhi, Alexandre Faleiros8 (AUTHOR) 9501@sarah.br, Menezes, Miriam Melo9 (AUTHOR) 204794@sarah.br, Nunes-Neves, Simone Vilela9 (AUTHOR) 7713@sarah.br, Vargas, Antonio Pedro9 (AUTHOR) vargas@sarah.br, da-Silva-Neto, Rafael Xavier9 (AUTHOR) 9679@sarah.br, Giron, Renata Lobo5 (AUTHOR) 11132@sarah.br, Costa-e-Silva, Cynthia10 (AUTHOR) 8107@sarah.br
Publikováno v: Surgical & Experimental Pathology. 12/4/2024, Vol. 7 Issue 1, p1-23. 23p.
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10
Akademický článek
Rethinking antisense oligonucleotide therapeutics for amyotrophic lateral sclerosis.
Autor: Ito, Daisuke1,2 (AUTHOR) d-ito@jk9.so-net.ne.jp, Okada, Kensuke2 (AUTHOR)
Publikováno v: Annals of Clinical & Translational Neurology. Dec2024, Vol. 11 Issue 12, p3054-3063. 10p.
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