Zobrazeno 1 - 10
of 3 515
pro vyhledávání: '"Acsadi, G"'
Autor:
Chiou CA; Department of Ophthalmology (CC, EDG), Massachusetts Eye and Ear, Boston, Massachusetts; Harvard Medical School (CC, FR, ABF, EDG), Boston, Massachusetts; Department of Genetics (FR), Boston Children's Hospital, Boston, Massachusetts; Department of Ophthalmology (ABF, EDG), Boston Children's Hospital, Boston, Massachusetts; Department of Neurology (GA), Connecticut Children's Medical Center, Hartford, Connecticut; Departments of Neurology and Ophthalmology (DW), University of Connecticut Health Center, Farmington, Connecticut; and Picower Institute for Learning and Memory (EDG), Massachusetts Institute of Technology, Cambridge, Massachusetts., Rajabi F, Fulton AB, Acsadi G, Waitzman DM, Gaier ED
Publikováno v:
Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society [J Neuroophthalmol] 2024 Mar 01; Vol. 44 (1), pp. e26-e28. Date of Electronic Publication: 2022 Oct 18.
Autor:
Record CJ; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK., Skorupinska M; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK., Laura M; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK., Rossor AM; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK., Pareyson D; Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy., Pisciotta C; Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy., Feely SME; Department of Neurology, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA., Lloyd TE; Departments of Neurology and Neuroscience, John Hopkins University School of Medicine, Baltimore, MD 21205, USA., Horvath R; Department of Clinical Neurosciences, University of Cambridge, Cambridge, CB2 0PY, UK., Sadjadi R; Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA., Herrmann DN; Department of Neurology, University of Rochester, Rochester, NY 14618, USA., Li J; Department of Neurology, Houston Methodist Hospital, Houston, TX 77030, USA., Walk D; Department of Neurology, University of Minnesota, Minneapolis, MN 55455, USA., Yum SW; Department of Neurology, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA.; Department of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Lewis RA; Department of Neurology, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA., Day J; Department of Neurology, Stanford University, Stanford, CA 94304, USA., Burns J; University of Sydney School of Health Sciences, Faculty of Medicine and Health; Paediatric Gait Analysis Service of New South Wales, Sydney Children's Hospitals Network, Sydney, 2145Australia., Finkel RS; Department of Neurology, Nemours Children's Hospital, Orlando, FL 32827, USA., Saporta MA; Department of Neurology, University of Miami Miller School of Medicine, Miami, FL 33136, USA., Ramchandren S; Department of Neurology, Wayne State University, Detroit, MI 48201, USA.; The Janssen Pharmaceutical Companies of Johnson & Johnson, Titusville, NJ 08560, USA., Weiss MD; Department of Neurology, University of Washington, Seattle, WA, 98195USA., Acsadi G; Connecticut Children's Medical Center, Hartford, CT 06106, USA., Fridman V; Department of Neurology, University of Colorado Denver School of Medicine, Aurora, CO 80045, USA., Muntoni F; The Dubowitz Neuromuscular Centre, NIHR Great Ormond Street Hospital Biomedical Research Centre, Great Ormond Street Institute of Child Health University College London, and Great Ormond Street Hospital Trust, London, WC1N 1EH, UK., Poh R; Neurogenetics Laboratory, National Hospital for Neurology and Neurosurgery, London, WC1N 3BG, UK., Polke JM; Neurogenetics Laboratory, National Hospital for Neurology and Neurosurgery, London, WC1N 3BG, UK., Zuchner S; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA., Shy ME; Department of Neurology, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA., Scherer SS; Department of Neurology, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA., Reilly MM; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
Publikováno v:
Brain : a journal of neurology [Brain] 2023 Oct 03; Vol. 146 (10), pp. 4336-4349.
Autor:
Õunpuu S; Center for Motion Analysis, Connecticut Children's Medical Center, Farmington, CT, USA. Electronic address: sounpuu@connecticutchildrens.org., Pierz K; Center for Motion Analysis, Connecticut Children's Medical Center, Farmington, CT, USA; Division of Orthopedics, Connecticut Children's Medical Center, Hartford, CT, USA., Mack WJ; Department of Population and Public Health Sciences, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA., Rodriguez-MacClintic J; Center for Motion Analysis, Connecticut Children's Medical Center, Farmington, CT, USA., Acsadi G; Division of Neurology, Connecticut Children's Medical Center, Farmington, CT, USA; Department of Pediatrics, Department of Neurology, University of Connecticut School of Medicine, Farmington, CT, USA., Wren TAL; Jackie and Gene Autry Orthopedic Center, Children's Hospital Los Angeles, Los Angeles, CA, USA; Departments of Orthopedic Surgery and Radiology, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
Publikováno v:
Gait & posture [Gait Posture] 2023 Jun; Vol. 103, pp. 146-152. Date of Electronic Publication: 2023 May 05.
Publikováno v:
Neuromuscular Disorders. 2024 Supplement 1, Vol. 43, pN.PAG-N.PAG. 1p.
Autor:
Cortese A., Zhu Y., Rebelo A. P., Negri S., Courel S., Abreu L., Bacon C. J., Bai Y., Bis-Brewer D. M., Bugiardini E., Buglo E., Danzi M. C., Feely S. M. E., Athanasiou-Fragkouli A., Haridy N. A., Rodriguez A., Bacha A., Kosikowski A., Wood B., McCray B., Blume B., Siskind C., Sumner C., Calabrese D., Walk D., Vujovic D., Park E., Muntoni F., Donlevy G., Acsadi G., Day J., Burns J., Li J., Krajewski K., Eichinger K., Cornett K., Mullen K., Laura P. Q., Gutmann L., Barrett M., Saporta M., Skorupinska M., Grant N., Bray P., Seyedsadjadi R., Zuccarino R., Finkel R., Lewis R., Yum S., Hilbert S., Thomas S., Behrens-Spraggins S., Jones T., Lloyd T., Grider T., Estilow T., Fridman V., Isasi R., Khan A., Laura M., Magri S., Pipis M., Pisciotta C., Powell E., Rossor A. M., Saveri P., Sowden J. E., Tozza S., Vandrovcova J., Dallman J., Grignani E., Marchioni E., Scherer S. S., Tang B., Lin Z., Al-Ajmi A., Schule R., Synofzik M., Maisonobe T., Stojkovic T., Auer-Grumbach M., Abdelhamed M. A., Hamed S. A., Zhang R., Manganelli F., Santoro L., Taroni F., Pareyson D., Houlden H., Herrmann D. N., Reilly M. M., Shy M. E., Zhai R. G., Zuchner S.
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3730::fa2f2639bada99e106229ff5b044a7c0
http://hdl.handle.net/11588/808647
http://hdl.handle.net/11588/808647
Autor:
Õunpuu S; Center for Motion Analysis, Connecticut Children's Medical Center, Farmington, CT, USA. Electronic address: sounpuu@connecticutchildrens.org., Pierz K; Center for Motion Analysis, Connecticut Children's Medical Center, Farmington, CT, USA; Division of Orthopedics, Connecticut Children's Medical Center, Hartford, CT, USA., Garibay E; Center for Motion Analysis, Connecticut Children's Medical Center, Farmington, CT, USA., Acsadi G; Division of Neurology, Connecticut Children's Medical Center, Farmington, CT, USA., Wren TAL; Children's Orthopaedic Center, Children's Hospital Los Angeles, Los Angeles, CA, USA.
Publikováno v:
Gait & posture [Gait Posture] 2022 Oct; Vol. 98, pp. 216-225. Date of Electronic Publication: 2022 Sep 21.
Autor:
Tao, F.F., Beecham, G.W., Rebelo, A.P., Svaren, J., Blanton, S.H., Moran, J.J., Lopez-Anido, C., Morrow, J.M., Abreu, L., Rizzo, D., Kirk, C.A., Wu, X.Y., Feely, S., Verhamme, C., Saporta, M.A., Herrmann, D.N., Day, J.W., Sumner, C.J., Lloyd, T.E., Li, J., Yum, S.W., Taroni, F., Baas, F., Choi, B.O., Pareyson, D., Scherer, S.S., Reilly, M.M., Shy, M.E., Zuchner, S., Lewis, R., Acsadi, G., Finkel, R., Fridman, V., Ramchandren, S., Walk, D., Logigian, E., Stanton, M., Eichinger, K., Guntrum, D., Gibson, C., Burns, J., Moroni, I., Pisciotta, C., Laura, M., Muntoni, F., Sowden, J.E., Mountain, J., Bai, Y.H., Bacon, C., Gutmann, L., Grider, T., Phetteplace, J., Seyedsadjadi, R., Houlden, H., Cortese, A., Pandraud, A., Calabrese, D., Saveri, P., Richardson, J., Dankwa, L., Lee, D., Siskind, C., Maciel, R., Bis, D., Inherited Neuropathy Consortium
Publikováno v:
Annals of Neurology, 85(3), 316-330. WILEY
Objective Genetic modifiers in rare disease have long been suspected to contribute to the considerable variance in disease expression, including Charcot-Marie-Tooth disease type 1A (CMT1A). To address this question, the Inherited Neuropathy Consortiu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::a7eed701d8be127d74bc936c55c4a687
https://hdl.handle.net/1887/122225
https://hdl.handle.net/1887/122225
Autor:
Acsadi G; Division of Pediatric Neurology, Connecticut Children's Medical Center, University of Connecticut School of Medicine, Farmington, Connecticut, USA., Crawford TO; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., Müller-Felber W; Department of Neuropediatrics, Developmental Neurology and Social Pediatrics, LMU Campus Innenstadt, University of Munich, Munich, Germany., Shieh PB; Department of Neurology, UCLA Clinical and Translational Research Center, Los Angeles, California, USA., Richardson R; Pediatric Neurology, Gillette Children's Specialty Healthcare, St Paul, Minnesota, USA., Natarajan N; Department of Neurology, Seattle Children's Research Institute, Seattle, Washington, USA., Castro D; Department of Pediatrics, Neurology and Neurotherapeutics, UT Southwestern Medical Center, Dallas, Texas, USA., Ramirez-Schrempp D; Biogen, Cambridge, Massachusetts, USA., Gambino G; Biogen, Maidenhead, UK., Sun P; Biogen, Cambridge, Massachusetts, USA., Farwell W; Biogen, Cambridge, Massachusetts, USA.
Publikováno v:
Muscle & nerve [Muscle Nerve] 2021 May; Vol. 63 (5), pp. 668-677. Date of Electronic Publication: 2021 Feb 16.
Autor:
Õunpuu S; Center for Motion Analysis, Connecticut Children's Medical Center, Farmington, CT, USA. Electronic address: sounpuu@connecticutchildrens.org., Garibay E; Center for Motion Analysis, Connecticut Children's Medical Center, Farmington, CT, USA., Acsadi G; Division of Neurology, Connecticut Children's Medical Center, Farmington, CT, USA., Brimacombe M; Research Department, Connecticut Children's Medical Center, USA., Pierz K; Center for Motion Analysis, Connecticut Children's Medical Center, Farmington, CT, USA; Division of Orthopedics, Connecticut Children's Medical Center, Farmington, CT, USA.
Publikováno v:
Gait & posture [Gait Posture] 2021 Mar; Vol. 85, pp. 198-204. Date of Electronic Publication: 2021 Feb 12.
Autor:
Hagenacker, Tim1 (AUTHOR) tim.hagenacker@uk-essen.de, Maggi, Lorenzo2 (AUTHOR), Coratti, Giorgia3 (AUTHOR), Youn, Bora4 (AUTHOR), Raynaud, Stephanie4 (AUTHOR), Paradis, Angela D.4,5 (AUTHOR) angela.paradis@biogen.com, Mercuri, Eugenio3 (AUTHOR)
Publikováno v:
Neurology & Therapy. Oct2024, Vol. 13 Issue 5, p1483-1504. 22p.