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pro vyhledávání: '"Eichinger, K."'
Autor:
de Valle, K., Dobson, F., Woodcock, I., Carroll, K., Ryan, M.M., Heatwole, C., Eichinger, K., McGinley, J.L.
Publikováno v:
In Neuromuscular Disorders August 2021 31(8):706-715
Autor:
Dinesh K; Department of Electrical and Computer Engineering, University of Rochester, Rochester, New York, USA., White N; Department of Neurology, University of Rochester Medical Center, Rochester, New York, USA., Baker L; Department of Neurology, University of Rochester Medical Center, Rochester, New York, USA., Sowden JE; Department of Neurology, University of Rochester Medical Center, Rochester, New York, USA., Behrens-Spraggins S; Department of Neurology, University of Rochester Medical Center, Rochester, New York, USA., Wood E; Department of Neurology, University of Rochester Medical Center, Rochester, New York, USA., Charles J; Department of Neurology, University of Rochester Medical Center, Rochester, New York, USA., Herrmann DN; Department of Neurology, University of Rochester Medical Center, Rochester, New York, USA., Sharma G; Department of Electrical and Computer Engineering, University of Rochester, Rochester, New York, USA., Eichinger K; Department of Neurology, University of Rochester Medical Center, Rochester, New York, USA.
Publikováno v:
Journal of the peripheral nervous system : JPNS [J Peripher Nerv Syst] 2023 Sep; Vol. 28 (3), pp. 368-381. Date of Electronic Publication: 2023 Jun 13.
Autor:
Varma A; Center for Health + Technology, University of Rochester, Rochester, New York, USA., Todinca MS; Department of Neurology, University of Rochester Medical Center, Rochester, New York, USA., Eichinger K; Department of Neurology, University of Rochester Medical Center, Rochester, New York, USA., Heininger S; Department of Neurology, University of Rochester Medical Center, Rochester, New York, USA., Dilek N; Center for Health + Technology, University of Rochester, Rochester, New York, USA., Martens W; Department of Neurology, University of Rochester Medical Center, Rochester, New York, USA., Tawil R; Department of Neurology, University of Rochester Medical Center, Rochester, New York, USA., Statland J; Department of Neurology, University of Kansas Medical Center, Kansas City, Kansas, USA., Kissel JT; Department of Neurology, Ohio State University Wexner Medical Center, Columbus, Ohio, USA., McDermott MP; Center for Health + Technology, University of Rochester, Rochester, New York, USA.; Department of Neurology, University of Rochester Medical Center, Rochester, New York, USA.; Department of Biostatistics and Computational Biology, University of Rochester Medical Center, Rochester, New York, USA., Heatwole C; Center for Health + Technology, University of Rochester, Rochester, New York, USA.; Department of Neurology, University of Rochester Medical Center, Rochester, New York, USA.
Publikováno v:
Muscle & nerve [Muscle Nerve] 2024 Mar; Vol. 69 (3), pp. 362-367. Date of Electronic Publication: 2024 Jan 08.
Autor:
Eichinger K; Department of Neurology, University of Rochester, Rochester, New York, USA., Behrens-Spraggins S; Department of Neurology, University of Rochester, Rochester, New York, USA., Sowden JE; Department of Neurology, University of Rochester, Rochester, New York, USA., Pareyson D; Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Reilly MM; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK., Scherer SS; Department of Neurology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA., Shy ME; Department of Neurology, Carver College of Medicine, University of Iowa, Iowa City, Iowa, USA., Herrmann DN; Department of Neurology, University of Rochester, Rochester, New York, USA.
Publikováno v:
Journal of the peripheral nervous system : JPNS [J Peripher Nerv Syst] 2023 Sep; Vol. 28 (3), pp. 528-529. Date of Electronic Publication: 2023 Jun 04.
Autor:
Albamonte, E., Coratti, G., Salmin, F., Zanolini, A., Pane, M., Pera, MC., Leone, D., Antonaci, L., D’Amico, A., Catteruccia, M., Bertini, E., Bruno, C., Brolatti, N., Messina, S., Sframeli, M., Piras, R., Mercuri, E., Sansone, V.A., Bonanno, S., Giossi, R., Zanin, R., Porcelli, V., Ingenito, G., Stevic, Z., Peric, S., Maggi, L., Darras, B.T., Masson, R., Mazurkiewicz-Bełdzińska, M., Rose, K., Xiong, H., Zanoteli, E., Baranello, G., Vlodavets, D., Dodman, A., El-Khairi, M., Gerber, M., Gorni, K., Kletzl, H., Scalco, R.S., Servais, L., Bello, L., Govoni, A., Caponnetto, C., Grisanti, S.G., Passamano, L., Grandis, M., Nicocia, G., Trojsi, F., Cerri, F., Gardani, A., Risi, B., Gadaleta, G., Ferraro, M., Bozzoni, V., Caumo, L., Tanel, R., Saccani, E., Meneri, M., Vacchiano, V., Ricci, G., Sorarù, G., D’Errico, E., Maioli, M.A., Tramacere, I., Bortolani, S., Pavesi, G., Silvestrini, M., Politano, L., Schenone, A., Previtali, S.C., Berardinelli, A., Turri, M., Verriello, L., Coccia, M., Mantegazza, R., Liguori, R., Filosto, M., Marrosu, G., Siciliano, G., Simone, I.L., Mongini, T., Comi, G.P., Pegoraro, E., Mercante, A., Perilongo, G., Salamon, E., Santini, A., Benini, F., Agosto, C., Cotti Piccinelli, S., Pilotto, A., Cristillo, V., Schiano di Cola, F., Bonzi, G., Mazzola, M., Padovani, A., Nuredini, A., Taiana, M., Nizzardo, M., Mari, F., Cesaroni, E., Porfiri, L., Tiziano, D., Vita, G.L., Merico, E., Schirinzi, E., Ramos, J.A.F., Ostrowska, I., Piontek, M., Corti, S., Miller, W., Shieh, P.B., Kuntz, N., Dowling, J.J., Müller-Felber, W., Blaschek, A., Bönnemann, C.G., Foley, A.R., Saade, D.N., Seferian, A.M., Lawlor, M.W., Noursalehi, M., Prasad, S., Rico, S., Rodino-Klapac, L.R., Pozsgai, E.R., Lewis, S., Griffin, D.A., Meadows, A.S., Lehman, K.J., Church, K., Reash, N.F., Iammarino, M.A., Powers, B., Alfano, L.N., Lowes, L.P., Koenig, E., Neuhaus, S., Li, X., Picaro, L., Mendell, J.R., Tonacci, A., Torri, F., Aringhieri, G., Sansone, F., Rubegni, A., Santorelli, F.M., Conte, R., Riguzzi, P., Zangaro, V., Villa, F.M., Cestarollo, M., Savarese, M., Johari, M., Vihola, A., Luque, H., Hackman, P., Udd, B., Bianchi, F., Fortunato, F., Giannini, F., Malandrini, A., Silani, V., Ticozzi, N., Fenu, S., Peduto, C., D’Ambrosio, P., Primiano, G., Sancricca, C., Sciacco, M., Brusa, R., Solero, L., Brusa, C., Cateruccia, M., Diodado, D., Pugliese, A., Ferlini, A., Monastra, F.M., Blasevich, F., Bragato, C., Marinella, G., Buchignani, B., Astrea, G., Cassandrini, D., Donati, M.A., Gallone, S., Lopergolo, D., Maioli, MA., Magri, F., Mandich, P., Massa, R., Matà, S., Moggio, M., Mongini, T.E., Ricci, F., Rodolico, C., Sperti, M., Ticci, C., Tonin, P., Battini, R., Panicucci, C., Pedemonte, M., Casalini, E., Minetti, C., Maghnie, M., Di Iorgi, N., Sabbatini, D., Vianello, S., Fusto, A., Merlo, B., Parravicini, S., Travaglioni, L., D’Angelo, G., Di Bari, A., Canioni, E., Gallone, A., Picillo, E., Nigro, V., Trucco, F., Ridout, D., Maresh, K., Chesshyre, M., Munot, P., Sarkozy, A., Robb, S., Quinlivan, R., Riley, M., Wallis, C., Chan, E., Abel, F., De Lucia, S., Hogrel, J.-Y., Niks, E.H., de Groot, H., Straub, V., Ricotti, V., Manzur, A., Muntoni, F., Frosini, S., LoMauro, A., Diella, E., Russo, A., Delle Fave, M., Pistininzi, C., Marchi, E., Pascuzzo, R., Vantini, S., Aliverti, A., D’Angelo, M.G., Garibaldi, M., Iacono, S., Di Stefano, V., Lupica, A., Gagliardo, A., Lanza, P., Rispoli, M.G., Ferri, L., Brighina, F., Di Muzio, A., Frangiamore, R., Antozzi, C., Baggi, F., Onore, M.E., Torella, A., Musacchia, F., Del Vecchio Blanco, F., Zanobio, M., Piluso, G., Poggetti, F., Ripolone, M., Zanotti, S., Caputo, V., Megalizzi, D., Bax, C., Ranieri, M., Colantoni, L., Tasca, G., Ricci, E., Caltagirone, C., Cascella, R., Giardina, E., Strafella, C., Lai, E., Marcello, M., Morotti, I., Caremani, M., Conte, I., Linari, M., Raffaghello, L., Principi, E., Baratto, S., Pintus, S., Antonini, F., Del Zotto, G., Bruzzone, S., Scudieri, P., Gazzerro, E., Ronchi, D., Lucchiari, S., Garbellini, M., Salani, S., Ciscato, P., Bresolin, N., Zeuli, R., Varavallo, A., Angelini, C., Brunetti-Pierri, N., Wischmeijer, A., Labella, B., Pezzini, D., Costa, A., Poli, L., Magoni, M., Manini, A., Velardo, D., Cinnante, C.M., Marija, M., Janez, Z., Traverso, M., Pini, A., Giannotta, M., Valentino, M.L., Scala, M., Zara, F., Fiorillo, C., Antognozzi, S., Napoli, L., Scuvera, G., Giacobbe, A., Milani, D., Rolle, E., Rossi, F., Cavallina, I., D’Alessandro, R., Urbano, G., Ricci, F, Peruzzo, D., Ciceri, T., Mascheretti, S., Lampis, V., Arrigoni, F., Giubergia, A., Crippa, A., Nobile, M., Mani, E., Falzarano, M.S., Mietto, M., Rossi, R., Selvatici, R., Gessi, M., Montanaro, F., Morgan, J., Muntoni, F, Lanzi, G., Galvagni, A., Romani, C., Gerevini, S., Selicorni, A., Ajdinaj, P., Montrasio, S., Cazzaniga, S., Bettica, P.U., Mastellaro, S., Romano, F., Napoli, M.M., Barbone, F., De Rosa, M.A., Angelucci, D., Andreassi, G., Amatetti, M., Amerio, P., Altamura, C., Farinato, A., Campanale, C., Carratù, M.R., Desaphy, J.-F., Brugnoni, R., Rossi, T., Canavese, C., Eoli, M., Lauria, G., Toscano, A., DiDuca, M., Campana, C., Cataldi, M., Greco, G., Frezza, E., Goglia, M., Boffa, L., Pignolo, A., Quartana, M., Fierro, B., Musumeci, S.A., Scarsi, E., Cella, A., Narciso, E., Cabona, C., Beronio, A., Assini, A., Del Sette, M., Bandini, F., Benedetti, L., Prada, V., Torre, E., Missaglia, S., Tavian, D., Baldelli, E., Caria, F., Ferrari Aggradi, C.R., Falcier, E., Lizio, A., Pirola, A., Casiraghi, J., Carraro, E., Mauro, L., Rao, F., Roma, E., Iannello, A., De Mattia, E., Barp, A., Lupone, S., Gatti, V., Italiano, C., Frisoni, M.C., Ferrari-Aggradi, C.R., Refran, J., Becchiati, S., Iossa, F., Eichinger, K., Dekdebrun, J., St Romain, J., Johnson, N., Thornton, C., Leali, M., Aimo, A., Todiere, G., Vergaro, G., Grigoratos, C., Giannoni, A., Baldinotti, F., Aquaro, G.D., Emdin, M., Passino, C., Barison, A., Gibertini, S., Iannibelli, E., Mora, M., Ruggieri, A., Scutifero, M., Palladino, A., Spiro Santovito, L., Pasanisi, B., Nesti, C., Bartolini, M., Tarabelloni, A., Tizzoni, F., Colombo, P., Tesei, A., Molteni, M., Falzone, Y., Chico, L., Caligo, M.A., D’Apice, M.R., Mantegazza, R.E., Pegolo, E., Cibin, F., Sawacha, Z., Giagnorio, E., Malacarne, C., Salvi, E., Bossolasco, P., Bardelli, D., Ratti, A., Marcuzzo, S., Melzi, V., Rizzuti, M., Gagliardi, D., Masrori, P., Biella, F., Van Damme, P., Musso, G., Cosma, C., Plebani, M., Neri, M., Sette, E., Trabanelli, C., Margutti, A., Rimessi, P., Fabris, M., Tugnoli, V., Gualandi, F., Paoletti, M., Diamanti, L., Muzic, S.I., Ballante, E., Solazzo, F., Foppoli, L., Deligianni, X., Santini, S., Figini, S., Bergsland, N., Pichiecchio, A., Pilla, F., Ianes, P.G., Casagrande, S., Gasperini, B., Zuccarino, R., Bersani, M., Pagliari, E., Saccomanno, D., Cattaneo, C., Lops, J., Pera, M.C., Palazzo, G., Scarpini, G., Not, R., Capelli, P., Testoni, C., Pisani, F., Piccolo, B., Fusco, C., Frattini, D., Vergine, G., Farina, M., Sarajlia, J., Marchetti, F., Piccinini, G.
Publikováno v:
Acta Myologica
Background Risdiplam has been approved for Compassionate Use (CUP) since 2019, for SMA type 1 and type 2 who could not receive the approved treatment for the disease. It’s an orally administered drug targeting SMN2 gene. More than 200 patients have
Autor:
Wang LH; University of Washington, Department of Neurology, WA, USA. Electronic address: leowang@uw.edu., Leung DG; Kennedy Krieger Institute, The Johns Hopkins School of Medicine, MD, USA., Wagner KR; Kennedy Krieger Institute, The Johns Hopkins School of Medicine, MD, USA., Lowry SJ; Seattle Children's Research Institute, WA, USA., McDermott MP; University of Rochester Medical Center, Department of Biostatistics and Computational Biology, NY, USA; University of Rochester Medical Center, Department of Neurology, NY, USA., Eichinger K; University of Rochester Medical Center, Department of Neurology, NY, USA., Higgs K; University of Kansas Medical Center, Department of Neurology, KS, USA., Walker M; University of Kansas Medical Center, Department of Neurology, KS, USA., Lewis L; University of Rochester Medical Center, Department of Biostatistics and Computational Biology, NY, USA., Martens WB; University of Rochester Medical Center, Department of Biostatistics and Computational Biology, NY, USA., Mul K; Radboud University, Nijmegen, Netherlands., Sansone VA; The NEMO Clinical Center, Neurorehabilitation Unit, University of Milan, Department of Neurology, Milan, Italy., Shieh P; University of California, Los Angeles, CA, USA., Elsheikh B; The Ohio State University, OH, USA., LoRusso S; The Ohio State University, OH, USA., Butterfield RJ; University of Utah, UT, USA., Johnson N; Virginia Commonwealth University, VA, USA., Preston MR; University of Washington, Department of Neurology, WA, USA., Messina C; Galeazzi Institute, Radiology Department, University of Milan, Italy., Carraro E; The NEMO Clinical Center, Neurorehabilitation Unit, University of Milan, Department of Neurology, Milan, Italy., Tawil R; University of Rochester Medical Center, Department of Neurology, NY, USA., Statland J; University of Kansas Medical Center, Department of Neurology, KS, USA.
Publikováno v:
Neuromuscular disorders : NMD [Neuromuscul Disord] 2023 Sep; Vol. 33 (9), pp. 63-68. Date of Electronic Publication: 2023 Jun 21.
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:
Thornton CA; Neurology, University of Rochester, Rochester, NY, USA., Moxley RT 3rd; Neurology, University of Rochester, Rochester, NY, USA., Eichinger K; Neurology, University of Rochester, Rochester, NY, USA., Heatwole C; Center for Health and Technology, University of Rochester, Rochester, NY, USA., Mignon L; Translational Medicine, Ionis Pharmaceuticals, Carlsbad, CA, USA., Arnold WD; Neurology, The Ohio State University Wexner Medical Center, Columbus, OH, USA., Ashizawa T; Neuroscience Research Program, Houston Methodist Research Institute, Houston, TX, USA., Day JW; Neuromuscular Medicine, Stanford University, Palo Alto, CA, USA., Dent G; Neurodegeneration Development Unit, Biogen, Cambridge, MA, USA., Tanner MK; Neurology, University of Rochester, Rochester, NY, USA., Duong T; Neuromuscular Medicine, Stanford University, Palo Alto, CA, USA., Greene EP; Neuromuscular Clinic, Houston Methodist Research Institute, Houston, TX, USA., Herbelin L; Neurology, University of Kansas Medical Center, Kansas City, KS, USA., Johnson NE; Neurology, University of Utah, Salt Lake City, UT, USA., King W; Neurology, The Ohio State University Wexner Medical Center, Columbus, OH, USA., Kissel JT; Neurology, The Ohio State University Wexner Medical Center, Columbus, OH, USA., Leung DG; Center for Genetic Muscle Disorders, Kennedy Krieger Institute, Baltimore, MD, USA., Lott DJ; Physical Therapy, University of Florida, Gainesville, FL, USA., Norris DA; Pharmacokinetics and Clinical Pharmacology, Ionis Pharmaceuticals, Carlsbad, CA, USA., Pucillo EM; Neurology, University of Utah, Salt Lake City, UT, USA., Schell W; Neuromuscular Clinic, Houston Methodist Research Institute, Houston, TX, USA., Statland JM; Neurology, University of Kansas Medical Center, Kansas City, KS, USA., Stinson N; Center for Genetic Muscle Disorders, Kennedy Krieger Institute, Baltimore, MD, USA., Subramony SH; Fixel Institute for Neurological Diseases, University of Florida, Gainesville, FL, USA., Xia S; Biometrics, Ionis Pharmaceuticals, Carlsbad, CA, USA., Bishop KM; Clinical Development, Ionis Pharmaceuticals, Carlsbad, CA, USA., Bennett CF; Ionis Pharmaceuticals, Carlsbad, CA, USA. Electronic address: fbennett@ionisph.com.
Publikováno v:
The Lancet. Neurology [Lancet Neurol] 2023 Mar; Vol. 22 (3), pp. 218-228.
Akademický článek
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Publikováno v:
In Neuromuscular Disorders October 2023 33 Supplement 1:S122-S122