Zobrazeno 1 - 10
of 1 449
pro vyhledávání: '"Kosofsky, B."'
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America, 1992 May . 89(10), 4270-4274.
Externí odkaz:
https://www.jstor.org/stable/2359309
Autor:
Walhovd, K.B., Moe, V., Slinning, K., Due-Tønnessen, P., Bjørnerud, A., Dale, A.M., van der Kouwe, A., Quinn, B.T., Kosofsky, B., Greve, D., Fischl, B.
Publikováno v:
In Neuroimage 2007 36(4):1331-1344
Publikováno v:
In Neuroscience 2004 125(1):163-170
Autor:
Mullagulova, Aysilu I.1 (AUTHOR) ayimullagulova@kpfu.ru, Timechko, Elena E.2 (AUTHOR) e.e.timechko@yandex.ru, Solovyeva, Valeriya V.1 (AUTHOR) vavsoloveva@kpfu.ru, Yakimov, Alexey M.2 (AUTHOR) cilvana20010z@gmail.com, Ibrahim, Ahmad1 (AUTHOR) akhmibrakhim@kpfu.ru, Dmitrenko, Diana D.2 (AUTHOR) mart2802@yandex.ru, Sufianov, Albert A.3,4 (AUTHOR) sufianov_a_a@staff.sechenov.ru, Sufianova, Galina Z.5 (AUTHOR) sufarm@mail.ru, Rizvanov, Albert A.1,6 (AUTHOR) rizvanov@gmail.com
Publikováno v:
International Journal of Molecular Sciences. Nov2024, Vol. 25 Issue 22, p12081. 31p.
Autor:
Westerhuis, Judith A. W.1 (AUTHOR) judithwesterhuis@hotmail.com, Dudink, Jeroen2 (AUTHOR) j.dudink@umcutrecht.nl, Wijnands, Bente E. C. A.2 (AUTHOR) b.e.c.a.wijnands-2@umcutrecht.nl, De Zeeuw, Chris I.1,3 (AUTHOR) c.dezeeuw@erasmusmc.nl, Canto, Cathrin B.1,3 (AUTHOR) c.canto@nin.knaw.nl
Publikováno v:
Cells (2073-4409). Nov2024, Vol. 13 Issue 22, p1911. 38p.
Autor:
Ammendolia, Ilaria1,2 (AUTHOR) emanuela.esposito@unime.it, Sframeli, Maria1 (AUTHOR) maria.sframeli@polime.it, Esposito, Emanuela2 (AUTHOR) gioacchino.calapai@unime.it, Cardia, Luigi3 (AUTHOR) alberto.noto@unime.it, Noto, Alberto3 (AUTHOR) maria.depasquale@unime.it, Currò, Mariaconcetta1 (AUTHOR) mariaconcetta.curro@unime.it, Calapai, Gioacchino2 (AUTHOR) carmen.mannucci@unime.it, De Pasquale, Maria3 (AUTHOR), Mannucci, Carmen2 (AUTHOR), Calapai, Fabrizio1,4 (AUTHOR) fabrizio.calapai@unime.it
Publikováno v:
Pharmaceuticals (14248247). Nov2024, Vol. 17 Issue 11, p1513. 11p.
Autor:
Sondhi D; Department of Genetic Medicine, Weill Cornell Medical College, New York, NY 10065, USA., Kaminsky SM; Department of Genetic Medicine, Weill Cornell Medical College, New York, NY 10065, USA., Hackett NR; Department of Genetic Medicine, Weill Cornell Medical College, New York, NY 10065, USA., Pagovich OE; Department of Genetic Medicine, Weill Cornell Medical College, New York, NY 10065, USA., Rosenberg JB; Department of Genetic Medicine, Weill Cornell Medical College, New York, NY 10065, USA., De BP; Department of Genetic Medicine, Weill Cornell Medical College, New York, NY 10065, USA., Chen A; Department of Genetic Medicine, Weill Cornell Medical College, New York, NY 10065, USA., Van de Graaf B; Department of Genetic Medicine, Weill Cornell Medical College, New York, NY 10065, USA., Mezey JG; Department of Genetic Medicine, Weill Cornell Medical College, New York, NY 10065, USA.; Department of Biological Statistics and Computational Biology, Cornell University, Ithaca, NY 14853, USA., Mammen GW; Department of Genetic Medicine, Weill Cornell Medical College, New York, NY 10065, USA., Mancenido D; Department of Genetic Medicine, Weill Cornell Medical College, New York, NY 10065, USA., Xu F; Department of Genetic Medicine, Weill Cornell Medical College, New York, NY 10065, USA., Kosofsky B; Department of Pediatrics, Weill Cornell Medical College, New York, NY 10065, USA., Yohay K; Department of Pediatrics, Weill Cornell Medical College, New York, NY 10065, USA., Worgall S; Department of Genetic Medicine, Weill Cornell Medical College, New York, NY 10065, USA.; Department of Pediatrics, Weill Cornell Medical College, New York, NY 10065, USA., Kaner RJ; Department of Genetic Medicine, Weill Cornell Medical College, New York, NY 10065, USA.; Department of Medicine, Weill Cornell Medical College, New York, NY 10065, USA., Souwedaine M; Department of Neurological Surgery, Weill Cornell Medical College, New York, NY 10065, USA., Greenwald BM; Department of Pediatrics, Weill Cornell Medical College, New York, NY 10065, USA., Kaplitt M; Department of Neurological Surgery, Weill Cornell Medical College, New York, NY 10065, USA., Dyke JP; Department of Radiology, Weill Cornell Medical College, New York, NY 10065, USA., Ballon DJ; Department of Genetic Medicine, Weill Cornell Medical College, New York, NY 10065, USA.; Department of Radiology, Weill Cornell Medical College, New York, NY 10065, USA., Heier LA; Department of Radiology, Weill Cornell Medical College, New York, NY 10065, USA., Kiss S; Department of Ophthalmology, Retina Service, Weill Cornell Medical College, New York, NY 10065, USA., Crystal RG; Department of Genetic Medicine, Weill Cornell Medical College, New York, NY 10065, USA. geneticmedicine@med.cornell.edu.; Department of Medicine, Weill Cornell Medical College, New York, NY 10065, USA.
Publikováno v:
Science translational medicine [Sci Transl Med] 2020 Dec 02; Vol. 12 (572).
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Dyke, J. P., Sondhi, D., Voss, H. U., Shungu, D. C., Mao, X., Yohay, K., Worgall, S., Hackett, N. R., Hollmann, C., Yeotsas, M. E., Jeong, A.L., Van de Graaf, B., Cao, I., Kaminsky, S. M., Heier, L. A., Rudser, K.D., Souweidane, M. M., Kaplitt, M.G., Kosofsky, B., Crystal, R. G., Ballon, D.
LINCL is a uniformly fatal lysosomal storage disease resulting from mutations in the CLN2 gene that encodes for tripeptidyl peptidase 1, a lysosomal enzyme necessary for the degradation of products of cellular metabolism. With the goal of developing
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c0f821a0c9369ebe95e221e63b73f0ea
https://europepmc.org/articles/PMC3644851/
https://europepmc.org/articles/PMC3644851/