Zobrazeno 1 - 10
of 191
pro vyhledávání: '"E. Dragone"'
Publikováno v:
Il Foro Italiano, 1997 Sep 01. 120(9), 2455/2456-2461/2462.
Externí odkaz:
https://www.jstor.org/stable/23191673
Publikováno v:
Il Foro Italiano, 1948 Jan 01. 71(3), 149/150-151/152.
Externí odkaz:
https://www.jstor.org/stable/45405575
Autor:
Enrico Grosso, Anna Gabellini, Alessandro Brussino, Caterina Tonon, Alfredo Brusco, E. Dragone, Maria Cristina Bellati, Raffaele Lodi, Sara Miccoli, Marina Ferrone, Dario Giobbe, Nicola Migone, Claudio Graziano, Laura Orsi, Carlo Arduino, Rita Rinaldi
SCA12 is an autosomal dominant cerebellar ataxia characterized by onset in the fourth decade of life with action tremor of arms and head, mild ataxia, dysmetria, and hyperreflexia. The disease is caused by an expansion of >or=51 CAGs in the 5' region
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a4953e21af1ca58279d9580c4fcb705
http://hdl.handle.net/11585/100104
http://hdl.handle.net/11585/100104
Autor:
Enrico Grosso, Davide Schiffer, M. De Marchi, Alfredo Brusco, A. Nardacchione, A. Franco, E. Dragone, Paolo Mortara, Laura Orsi
Publikováno v:
Clinical Genetics. 56:232-234
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::900493de58322431d151e3d098457dcf
https://doi.org/10.1034/j.1399-0004.1999.560309.x
https://doi.org/10.1034/j.1399-0004.1999.560309.x
Autor:
Alexandra Durr, Claudia Cagnoli, Alexis Brice, Alessandro Brussino, Michelle Viemont, Giovanni Stevanin, Chiara Michielotto, Giovanni Gerbino Promis, Cinzia Gellera, E. Dragone, Patrizia Pappi, Alfredo Brusco, Nicola Migone
Large expansions in the SCA2 and SCA7 genes (>100 CAG repeats) have been associated with juvenile and infantile forms of cerebellar ataxias that cannot be detected using standard polymerase chain reaction (PCR). Here, we describe a successful applica
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4c4c014750aa6405e96d52976a57ebb
http://hdl.handle.net/2318/43202
http://hdl.handle.net/2318/43202
Autor:
Paolo Mortara, E. Dragone, Enrico Grosso, Claudia Cagnoli, Roberto Mutani, Nicola Migone, Alfredo Brusco, Laura Orsi, Antonella Nardacchione, A. Franco
Spinocerebellar ataxias (SCA) are a heterogeneous group of neurodegenerative disorders, six of which are caused by expansion of a polyglutamine-coding CAG repeats ( SCA1- 3, 6, 7 and 17). In addition, expansions of a CAG triplet in the 5' region of a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19c462d6d02fce595438e7b94c95dca4
http://hdl.handle.net/2318/36578
http://hdl.handle.net/2318/36578
Autor:
Alessandro Brussino, E. Di Gregorio, Paola Caroppo, S. Stola, E. Dragone, Marina Ferrone, Laura Orsi, Sergio Padovan, Nicola Migone, Alfredo Brusco, Claudia Cagnoli
Publikováno v:
Journal of Neurology. 255:1079-1080
JO N 2772 accompanied by dysphagia, and variable weakness of neck and limb muscles [6]. A novel neurodegenerative disorder, named MItochondrial autosomal Recessive Ataxia Syndrome (MIRAS) associated with the W748S mutation in homozygosis or compound
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a2b4aadde17638d0cd4aa08d8b9a99c
https://doi.org/10.1007/s00415-008-0772-3
https://doi.org/10.1007/s00415-008-0772-3
Akademický článek
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Autor:
G. Restagno, Paolo Mortara, E. Dragone, L. Orsi, Enrico Grosso, G. Matullo, A. Franco, E. Pavanelli, A. Nardacchione, A.O. Carbonara
Publikováno v:
Neuromuscular Disorders. 7:469
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4ba3047fa4c41481ea1737300b3fa849
https://doi.org/10.1016/s0960-8966(97)87332-4
https://doi.org/10.1016/s0960-8966(97)87332-4
Publikováno v:
Frontiers in Molecular Neuroscience; 2024, p1-14, 14p