Zobrazeno 1 - 10
of 23
pro vyhledávání: '"Cassetta A (2)"'
Autor:
Signorino G (1), Covaceuszach S (2), Bozzi M (1), (3), Hübner W (4), Mönkemöller V (4), Konarev PV (5), Cassetta A (2), Brancaccio A (3), (6), Sciandra F (3).
Publikováno v:
Human mutation 39 (2018): 266–280.
info:cnr-pdr/source/autori:Signorino G (1), Covaceuszach S (2), Bozzi M (1),(3), Hübner W (4), Mönkemöller V (4), Konarev PV (5), Cassetta A (2), Brancaccio A (3),(6), Sciandra F (3)./titolo:A dystroglycan mutation (p.Cys66uPhe) associated to muscle-eye-brain disease with multicystic leukodystrophy results in ER-retention of the mutant protein/doi:/rivista:Human mutation/anno:2018/pagina_da:266/pagina_a:280/intervallo_pagine:266–280/volume:39
info:cnr-pdr/source/autori:Signorino G (1), Covaceuszach S (2), Bozzi M (1),(3), Hübner W (4), Mönkemöller V (4), Konarev PV (5), Cassetta A (2), Brancaccio A (3),(6), Sciandra F (3)./titolo:A dystroglycan mutation (p.Cys66uPhe) associated to muscle-eye-brain disease with multicystic leukodystrophy results in ER-retention of the mutant protein/doi:/rivista:Human mutation/anno:2018/pagina_da:266/pagina_a:280/intervallo_pagine:266–280/volume:39
Dystroglycan (DG) is a cell adhesion complex composed by two subunits, the highly glycosylated ?-DG and the transmembrane ?-DG. In skeletal muscle, DG is involved in dystroglycanopathies, a group of heterogeneous muscular dystrophies characterized by
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=cnr_________::adbed9846b9650783ff2d45322dc2d02
http://www.cnr.it/prodotto/i/390142
http://www.cnr.it/prodotto/i/390142
Publikováno v:
Italica (1950-2206); 2018, p117-163, 47p
Autor:
Viola Mönkemöller, Manuela Bozzi, Andrea Brancaccio, Petr V. Konarev, Giulia Signorino, Francesca Sciandra, Sonia Covaceuszach, Wolfgang Hübner, Alberto Cassetta
Publikováno v:
Signorino, G, Covaceuszach, S, Bozzi, M, Hubner, W, Mönkemöller, V, Konarev, P V, Cassetta, A, Brancaccio, A & Sciandra, F 2018, ' A dystroglycan mutation (p.Cys667Phe) associated to muscle-eye-brain disease with multicystic leucodystrophy results in ER-retention of the mutant protein ', Human Mutation, vol. 39, no. 2, pp. 266-280 . https://doi.org/10.1002/humu.23370
Human mutation 39 (2018): 266–280. doi:10.1002/humu.23370
info:cnr-pdr/source/autori:Signorino, Giulia (1); Covaceuszach, Sonia (2); Bozzi, Manuela (1,3); Hubner, Wolfgang (4); Monkemoller, Viola (4); Konarev, Petr V (5,6); Cassetta, Alberto (2); Brancaccio, Andrea (3); Sciandra, Francesca (3)/titolo:A dystroglycan mutation (p.Cys667Phe) associated to muscle-eye-brain disease with multicystic leucodystrophy results in ER-retention of the mutant protein./doi:10.1002%2Fhumu.23370/rivista:Human mutation/anno:2018/pagina_da:266/pagina_a:280/intervallo_pagine:266–280/volume:39
Human mutation 39 (2018): 266–280. doi:10.1002/humu.23370
info:cnr-pdr/source/autori:Signorino, Giulia (1); Covaceuszach, Sonia (2); Bozzi, Manuela (1,3); Hubner, Wolfgang (4); Monkemoller, Viola (4); Konarev, Petr V (5,6); Cassetta, Alberto (2); Brancaccio, Andrea (3); Sciandra, Francesca (3)/titolo:A dystroglycan mutation (p.Cys667Phe) associated to muscle-eye-brain disease with multicystic leucodystrophy results in ER-retention of the mutant protein./doi:10.1002%2Fhumu.23370/rivista:Human mutation/anno:2018/pagina_da:266/pagina_a:280/intervallo_pagine:266–280/volume:39
Dystroglycan (DG) is a cell adhesion complex composed by two subunits, the highly glycosylated alpha-DG and the transmembrane beta-DG. In skeletal muscle, DG is involved in dystroglycanopathies, a group of heterogeneous muscular dystrophies character
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec5182f590f7d5d011af95d8d987014e
https://doi.org/10.1002/humu.23370
https://doi.org/10.1002/humu.23370
Autor:
Luisa Benussi, Cristina Testa, Davide Anchisi, Daniela Perani, Simona Signorini, Emanuele Cassetta, Francesca Nicosia, Giuliano Binetti, Giovanni B. Frisoni, Enrica Feudatari, Antonella Alberici, Paolo Maria Rossini, Orazio Zanetti, Massimo Gennarelli, Roberta Ghidoni, Rosanna Squitti, Laura Barbiero
Publikováno v:
Annals of neurology 54(6) (2003): 832–836.
info:cnr-pdr/source/autori:Binetti G. 1, Signorini S. 1, Squitti R. 2, Alberici A. 1, Benussi L. 1, Cassetta E. 2, Frisoni G.B. 3, Barbiero L. 1, Feudatari E. 1, Nicosia F. 1, Testa C. 3, Zanetti O. 1, Gennarelli M. 4, Perani D. 5, Anchisi 6, Ghidoni R. 1, Rossini P.M. 2 7/titolo:Atypical dementia associated with a novel presenilin-2 mutation./doi:/rivista:Annals of neurology/anno:2003/pagina_da:832/pagina_a:836/intervallo_pagine:832–836/volume:54(6)
info:cnr-pdr/source/autori:Binetti G. 1, Signorini S. 1, Squitti R. 2, Alberici A. 1, Benussi L. 1, Cassetta E. 2, Frisoni G.B. 3, Barbiero L. 1, Feudatari E. 1, Nicosia F. 1, Testa C. 3, Zanetti O. 1, Gennarelli M. 4, Perani D. 5, Anchisi 6, Ghidoni R. 1, Rossini P.M. 2 7/titolo:Atypical dementia associated with a novel presenilin-2 mutation./doi:/rivista:Annals of neurology/anno:2003/pagina_da:832/pagina_a:836/intervallo_pagine:832–836/volume:54(6)
We describe an Italian pedigree with hereditary dementia associated with a novel T122R mutation in the presenilin-2 gene (PSEN2). The clinical history, symptom presentation, and structural neuroimaging were consistent with an atypical form of dementi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f8745ddb91ee1cca21b60179a8e9b16
http://hdl.handle.net/11390/669459
http://hdl.handle.net/11390/669459
Il volume contiene le lettere scritte da Scipio Slataper (1888–1915) alle «tre amiche» triestine, Anna Pulitzer, Elody Oblath e Gigetta (Luisa) Carniel, tra l'estate del 1909 e il 3 dicembre 1915, quando egli cadde in combattimento sul Podgora, i
Temples are the most prestigious buildings in the urban landscape of ancient Italy, emerging within a network of centres of the then-known Mediterranean world. Notwithstanding the fragmentary condition of the buildings'remains, these monuments – an
Autor:
Antonino Crisà
When Archaeology Meets Communities examines the history of nineteenth-century Sicilian archaeology through the archival documentation for the excavations – official and casual – at Tindari, Lipari and nearby minor sites in the Messina province fr
Autor:
Antonio Sorge
The inhabitants of highland Sardinia proudly declare a long history of resistance to outside authority. Many even celebrate the belief that “not even the Roman Empire reached this far.” Yet, since the late nineteenth century, the Italian governme
This edited collection disrupts dominant narratives about space, states, and borders, bringing comparative ethnographic and geographic scholarship in conversation with one another to illuminate the varied ways in which space becomes socialized via po