FERLINI, Alessandra

FERLINI, Alessandra  

Dipartimento di Scienze mediche  

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204th ENMC International Workshop on Biomarkers in Duchenne Muscular Dystrophy 24-26 January 2014, Naarden, The Netherlands. 2014 Ferlini, Alessandra; Flanigan, Km; Lochmuller, H; Muntoni, F; 't Hoen, Pa; Mcnally, file con accesso da definire
226th ENMC International Workshop: towards validated and qualified biomarkers for therapy development for Duchenne muscular dystrophy 20–22 January 2017, Heemskerk, The Netherlands 2018 Aartsma-Rus, A.; Ferlini, A.; Mcnally, E. M.; Spitali, P.; Sweeney, H. L.; Aartsma-Rus, A. M.; Sz...igyarto, C. A. -K.; Bello, L.; Bronson, A.; Brown, K.; Buccella, F.; Chadwick, J.; Ferlini, A.; Frank, D.; Hoffman, E.; Larkindale, J.; Mcclorey, G.; Mcnally, E.; Munschauer, R.; Muntoni, F.; Owens, J.; Schara, U.; Straub, V.; Sweeney, L.; Tinsley, J.; Versnel, J.; Vroom, E.; Welch, E.
31P-NMR spectroscopy of skeletal muscle in Becker dystrophy and DMD/BMD carriers. Altered rate of phosphate transport 1992 Barbiroli, B; Funicello, R; Iotti, S; Montagna, P; Ferlini, Alessandra; Zaniol, P. file con accesso da definire
6 minute walk test in Duchenne MD patients with different mutations: 12 month changes 2014 M., Pane; Es, Mazzone; Mp, Sormani; S., Messina; Gl, Vita; L., Fanelli; A., Berardinelli; Y., Tor...rente; A., D'Amico; V., Lanzillotta; E., Viggiano; P., D'Ambrosio; F., Cavallaro; S., Frosini; L., Bello; S., Bonfiglio; R., Scalise; R., De Sanctis; E., Rolle; F., Bianco; M., Van der Haawue; F., Magri; C., Palermo; F., Rossi; Ma, Donati; C., Alfonsi; M., Sacchini; Mt, Arnoldi; G., Baranello; T., Mongini; A., Pini; R., Battini; E., Pegoraro; Sc, Previtali; S., Napolitano; C., Bruno; L., Politano; Gp, Comi; E., Bertini; L., Morandi; Gualandi, Francesca; Ferlini, Alessandra; N., Goemans; E., Mercuri file con accesso da definire
A new mutation (TTR Ala‐47) in the transthyretin gene associated with hereditary amyloidosis 1994 Ferlini, Alessandra; Patrosso, Mc; Repetto, M; Frattini, A; Villa, A; Fini, S; Salvi, F; Vezzoni,... P; Forabosco, A. file con accesso da definire
A novel Alu-like element rearranged in the dystrophin gene causes a splicing mutation in a family with X-linked dilated cardiomyopathy 1998 Ferlini, Alessandra; Galie, N; Merlini, L; Sewry, C; Branzi, A; Muntoni, F. file con accesso da definire
A novel KCNA1 mutation identified in an Italian family affected by episodic ataxia type 1 2008 Imbrici, P; Gualandi, Francesca; D'Adamo, Mc; Masieri, Mt; Cudia, P; De Grandis, D; Mannucci, R; ...Nicoletti, I; Tucker, Sj; Ferlini, Alessandra; Pessia, M. file con accesso da definire
A patient with limb girdle muscular dystrophy carries a TRIM32 deletion, detected by a novel CGH array, in compound heterozygosis with a nonsense mutation 2013 Neri, Marcella; Selvatici, Rita; Scotton, Chiara; Trabanelli, Cecilia; Armaroli, Annarita; De Gra...ndis, D.; Levy, N.; Gualandi, Francesca; Ferlini, Alessandra file con accesso da definire
A strategy to identify and modulate sequences-motifs relevant for the pathogenesis of dystrophinopathies by functional characterisation of non-coding regions involved in dystrophin gene expression regulation (Telethon GGPO2112) 2002 Ferlini, Alessandra file con accesso da definire
The absence of dystrophin brain isoform expression in healthy human heart ventricles explains the pathogenesis of 5 ' X-linked dilated cardiomyopathy 2012 Neri, Marcella; Valli, E; Alfano, G; Bovolenta, Matteo; Spitali, Pietro; Rapezzi, C; Muntoni, F; ...Banfi, S; Perini, G; Gualandi, Francesca; Ferlini, Alessandra
Accurate quantification of dystrophin mRNA and exon skipping levels in Duchenne Muscular Dystrophy 2010 Spitali, Pietro; Heemskerk, H; Vossen, Rh; Ferlini, Alessandra; den Dunnen, Jt; 't Hoen, Pa; Aart...sma Rus, A. file con accesso da definire
Affinity proteomics within rare diseases: a BIO-NMD study for blood biomarkers of muscular dystrophies 2014 B., Ayoglu; A., Chaouch; H., Lochmüller; L., Politano; E., Bertini; Spitali, Pietro; M., Hiller; ...E., Niks; Gualandi, Francesca; F., Pontén; K., Bushby; A., Aartsma Rus; E., Schwartz; Y., Le Priol; V., Straub; M., Uhlén; S., Cirak; F., 't Hoen PA5; Muntoni, ; Ferlini, Alessandra; Jm, Schwenk; P., Nilsson; C., Al Khalili Szigyarto file con accesso da definire
An Italian kindred with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). 1995 Ragno, M; Tournier Lasserve, E; Fiori, Mg; Manca, A; Patrosso, Mc; Ferlini, Alessandra; Sirocchi,... G; Trojano, L; Chabriat, H; Salvi, F. file con accesso da definire
Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy 1986 Kunkel, Lm; Hejtmancik, Jf; Caskey, Ct; Speer, A; Monaco, Ap; Middlesworth, W; Colletti, Ca; Bert...elson, C; Müller, U; Bresnan, M; Shapiro, F; Tantravahi, U; Speer, J; Latt, Sa; Bartlett, R; Pericak Vance, Ma; Roses, Ad; Thompson, Mw; Ray, Pn; Worton, Rg; Fischbeck, Kh; Gallano, P; Coulon, M; Duros, C; Boue, J; Junien, C; Chelly, J; Hamard, G; Jeanpierre, M; Lambert, M; Kaplan, Jc; Emery, A; Dorkins, H; Mcglade, S; Davies, Ke; Boehm, C; Arveiler, B; Lemaire, C; Morgan, Gj; Denton, Mj; Amos, J; Bobrow, M; Benham, F; Boswinkel, E; Cole, C; Dubowitz, V; Hart, K; Hodgson, S; Johnson, L; Walker, A; Roncuzzi, L; Ferlini, Alessandra; Nobile, C; Romeo, G; Wilcox, De; Affara, Na; Ferguson Smith, Ma; Lindolf, M; Kaariainen, H; de la Chapelle, A; Ionasescu, V; Searby, C; Ionasescu, R; Bakker, E; van Ommen, Gj; Pearson, Pl; Greenberg, Cr; Hamerton, Jl; Wrogemann, K; Doherty, Ra; Polakowska, R; Hyser, C; Quirk, S; Thomas, N; Harper, Jf; Darras, Bt; Francke, U. file con accesso da definire
Androgen receptor gene (CAG)n repeat analysis in the differential diagnosis between Kennedy disease and other motoneuron disorders. 1995 Ferlini, Alessandra; Patrosso, Mc; Guidetti, D; Merlini, Luciano; Uncini, A; Ragno, M; Plasmati, ...R; Fini, Sergio; Repetto, M; Vezzoni, P. file con accesso da definire
Antisense modulation and characterisation of myogenic cells from 14 boys with Duchenne muscular dystrophy as pre-trial study aimed at patients’ recruitment for an European multicentric clinical trial (Telethon UILDM-GGPO7011) 2008 Ferlini, Alessandra file con accesso da definire
Antisense modulation of both exonic and intronic splicing motifs induces skipping of a DMD pseudo-exon responsible for X-linked dilated cardiomyopathy 2010 Rimessi, Paola; Fabris, Marina; Bovolenta, Matteo; Bassi, Elena; Falzarano, Maria Sofia; Gualandi..., Francesca; Rapezzi, C; Coccolo, F; Perrone, Daniela; Medici, Alessandro; Ferlini, Alessandra
Antisense Oligonucleotide-Based Therapy for Neuromuscular Disease 2017 Sardone, Valentina; Zhou, Haiyan; Muntoni, Francesco; Ferlini, Alessandra; Falzarano, Maria Sofia
Antisense oligonucleotides capable of inducing exon skipping in dystrophin gene and their use in treatment of duchenne muscular dystrophy 2010 Ferlini, Alessandra; Medici, Alessandro; Perrone, Daniela; Rimessi, Paola; Spitali, Pietro file con accesso da definire
Antisense-Induced Messenger Depletion Corrects a COL6A2 Dominant Mutation in Ullrich Myopathy 2012 Gualandi, Francesca; Manzati, Elisa; Sabatelli, Patrizia; Passarelli, Chiara; Bovolenta, Matteo; ...Pellegrini, Camilla; Perrone, Daniela; Squarzoni, S; Pegoraro, E; Bonaldo, P; Ferlini, Alessandra