NASCIMBENI, ANNA CHIARA
NASCIMBENI, ANNA CHIARA
Dipartimento di Neuroscienze - DNS
Adult acid maltase deficiency: an open trial with albuterol and branched- chain aminoacids
2004 Angelini, Corrado; Pegoraro, Elena; ZAMBITO MARSALA, S.; Vergani, Lodovica; Nascimbeni, ANNA CHIARA; Fulizio, L.; Fanin, Marina
Autophagy dysregulation in Danon disease
2017 Nascimbeni, ANNA CHIARA; Fanin, Marina; Angelini, Corrado; Sandri, Marco
Cardioembolic stroke in Danon disease.
2008 Spinazzi, Marco; Fanin, Marina; Melacini, Paola; Nascimbeni, ANNA CHIARA; Angelini, Corrado
Dominant muscular dystrophy with a novel SYNE1 gene mutation
2015 Fanin, M.; Savarese, M.; Nascimbeni, A. C.; Di Fruscio, G.; Pastorello, E.; Tasca, E.; Trevisan, C. P.; Nigro, V.; Angelini, C.
Effects of short-to-long term enzyme replacement therapy (ERT) on skeletal muscle tissue in late onset Pompe disease (LOPD).
2018 Ripolone, M; Violano, R; Ronchi, D; Mondello, S; Nascimbeni, A; Colombo, I; Fagiolari, G; Bordoni, A; Fortunato, F; Lucchini, V; Saredi, S; Filosto, M; Musumeci, O; Tonin, P; Mongini, T; Previtali, S; Morandi, L; Angelini, C; Mora, M; Sandri, M; Sciacco, M; Toscano, A; Comi, Gp; Moggio, M.
Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes
2005 Piluso, G; Politano, L; Aurino, S; Fanin, M; Ricci, E; Ventriglia, Vm; Belsito, A; Totaro, A; Saccone, V; Topaloglu, H; Nascimbeni, ANNA CHIARA; Fulizio, L; Broccolini, A; CANKI KLAIN, N; Comi, Li; Nigro, G; Angelini, Corrado; Nigro, V.
Generalized lysosome-associated membrane protein-2 defect explains multisystem clinical involvement and allows leukocyte diagnostic screening in Danon disease
2006 Fanin, Marina; Nascimbeni, ANNA CHIARA; Fulizio, L; Spinazzi, Marco; Melacini, Paola; Angelini, Corrado
Glycogenosys type II and Danon Disease: molecular study and muscle pathology
2009 Nascimbeni, Anna Chiara
Loss of calpain-3 autocatalytic activity in LGMD2A patients with normal protein expression
2003 Fanin, Marina; Nascimbeni, ANNA CHIARA; Fulizio, Luigi; Trevisan, CARLO PIETRO; MEZNARIC PETRUSA, M; Angelini, Corrado
Molecular pathology and enzyme processing in various phenotypes of acid maltase deficiency.
2008 Nascimbeni, ANNA CHIARA; Fanin, M; Tasca, E; Angelini, Corrado
Morphological changes in late onset acid Maltase deficient patients with splicing gene mutation
2003 Angelini, Corrado; Cenacchi, G; Nascimbeni, ANNA CHIARA; Fulizio, L.
Multisystemic LAMP-2 defect in Danon disease.
2007 Fanin, Marina; Nascimbeni, ANNA CHIARA; Tasca, Elisabetta; Nardetto, Lucia; Spinazzi, Marco; Melacini, Paola; Angelini, Corrado
Muscle atrophy in Limb Girdle Muscular Dystrophy 2A: A morphometric and molecular study
2013 Fanin, M.; Nascimbeni, A. C.; Angelini, C.
Muscle atrophy, ubiquitin-proteasome, and autophagic pathways in dysferlinopathy
2014 Fanin, M.; Nascimbeni, A. C.; Angelini, C.
Muscle fatigue, nNOS and muscle fiber atrophy in limb girdle muscular dystrophy
2014 Angelini, C; Tasca, E; Nascimbeni, Ac; Fanin, M; Angelini, C; Tasca, E; Nascimbeni, Ac; Fanin, M; Angelini, C; Tasca, E; Nascimbeni, Ac; Fanin, M; Angelini, C; Tasca, E; Nascimbeni, Ac; Fanin, M; Angelini, C; Tasca, E; Nascimbeni, Ac; Fanin, M; Angelini, C; Tasca, E; Nascimbeni, Ac; Fanin, M; Angelini, C; Tasca, E; Nascimbeni, Ac; Fanin, M
Muscle fatigue, nNOS and muscle fiber atrophy in limb girdle muscular dystrophy
2014 Angelini, C.; Tasca, E.; Nascimbeni, A. C.; Fanin, M.; Angelini, C.; Tasca, E.; Nascimbeni, A. C.; Fanin, M.; Angelini, C.; Tasca, E.; Nascimbeni, A. C.; Fanin, M.; Angelini, C.; Tasca, E.; Nascimbeni, A. C.; Fanin, M.; Angelini, C.; Tasca, E.; Nascimbeni, A. C.; Fanin, M.; Angelini, C.; Tasca, E.; Nascimbeni, A. C.; Fanin, M.; Angelini, C.; Tasca, E.; Nascimbeni, A. C.; Fanin, M.
Muscle protein analysis in the detection of heterozygotes for recessive limb girdle muscular dystrophy type 2B and 2E.
2006 Fanin, M; Nascimbeni, ANNA CHIARA; Angelini, Corrado
Phenotype modulators in myophosphorylase deficiency
2003 Martinuzzi, A; Sartori, Elena; Fanin, Marina; Nascimbeni, ANNA CHIARA; Valente, L; Angelini, Corrado; Siciliano, G.; Mongini, T.; Tonin, P; Tomelleri, G; Toscano, A; Merlini, L.; Bindoff, La; Bertelli, S.
Screening of calpain-3 autolytic activity in LGMD muscle: a functional map of CAPN3 gene mutations
2007 Fanin, M; Nascimbeni, ANNA CHIARA; Angelini, Corrado
Study of Muscle Autophagy and Atrophy Markers in Different Phenotypes of Pompe Disease
2011 Nascimbeni, ANNA CHIARA; Fanin, Marina; E., Masiero; Semplicini, Claudio; Tasca, Elisabetta; Sandri, Marco; Angelini, Corrado