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Anna Chiara Nascimbeni

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Anna Chiara Nascimbeni; Corrado Angelini; Marina Fanin; Eva Masiero; Marco Sandri
Impaired autophagy contributes to muscle atrophy in glycogen storage disease type II patients.
Anna Chiara Nascimbeni; Corrado Angelini; Marina Fanin; E Masiero; Marco Sandri
The role of autophagy in the pathogenesis of glycogen storage disease type II (GSDII).
Anna Chiara Nascimbeni; Marina Fanin; Elisabetta Tasca; Corrado Angelini
Transcriptional and translational effects of intronic CAPN3 gene mutations.

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All Publications

2012: Anna Chiara Nascimbeni; Corrado Angelini; Marina Fanin; Eva Masiero; Marco Sandri
Impaired autophagy contributes to muscle atrophy in glycogen storage disease type II patients.
Autophagy 2012;8(11):1697-700.
2012: Anna Chiara Nascimbeni; Corrado Angelini; Marina Fanin; E Masiero; Marco Sandri
The role of autophagy in the pathogenesis of glycogen storage disease type II (GSDII).
Cell death and differentiation 2012;19(10):1698-708.
2010: Anna Chiara Nascimbeni; Marina Fanin; Elisabetta Tasca; Corrado Angelini
Transcriptional and translational effects of intronic CAPN3 gene mutations.
Human mutation 2010;31(9):E1658-69.
2010: Corrado Angelini; L Nardetto; C Borsato; R Padoan; Marina Fanin; Anna Chiara Nascimbeni; E Tasca
The clinical course of calpainopathy (LGMD2A) and dysferlinopathy (LGMD2B).
Neurological research 2010;32(1):41-6.
2009: Marina Fanin; Anna Chiara Nascimbeni; Elisabetta Tasca; Corrado Angelini
How to tackle the diagnosis of limb-girdle muscular dystrophy 2A.
European journal of human genetics : EJHG 2009;17(5):598-603.
2009: Marina Fanin; Anna Chiara Nascimbeni; S Aurino; E Tasca; Elena Pegoraro; Vincenzo Nigro; Corrado Angelini
Frequency of LGMD gene mutations in Italian patients with distinct clinical phenotypes.
Neurology 2009;72(16):1432-5.
2009: Marina Fanin; Elisabetta Tasca; Anna Chiara Nascimbeni; Corrado Angelini
Sarcolemmal neuronal nitric oxide synthase defect in limb-girdle muscular dystrophy: an adverse modulating factor in the disease course?
Journal of neuropathology and experimental neurology 2009;68(4):383-90.
2008: Anna Chiara Nascimbeni; Marina Fanin; Elisabetta Tasca; Corrado Angelini
Molecular pathology and enzyme processing in various phenotypes of acid maltase deficiency.
Neurology 2008;70(8):617-26.
2007: Marina Fanin; L Nardetto; Anna Chiara Nascimbeni; E Tasca; Marco Spinazzi; R Padoan; Corrado Angelini
Correlations between clinical severity, genotype and muscle pathology in limb girdle muscular dystrophy type 2A.
Journal of medical genetics 2007;44(10):609-14.
2007: Marina Fanin; Anna Chiara Nascimbeni; Corrado Angelini
Screening of calpain-3 autolytic activity in LGMD muscle: a functional map of CAPN3 gene mutations.
Journal of medical genetics 2007;44(1):38-43.
2006: Marina Fanin; Anna Chiara Nascimbeni; Corrado Angelini
Muscle protein analysis in the detection of heterozygotes for recessive limb girdle muscular dystrophy type 2B and 2E.
Neuromuscular disorders : NMD 2006;16(11):792-9.
2006: Chiara Pizzanelli; Michelangelo Mancuso; Renato Galli; Anna Choub; Marina Fanin; Anna Chiara Nascimbeni; Gabriele Siciliano; Luigi Murri
Epilepsy and limb girdle muscular dystrophy type 2A: double trouble, serendipitous finding or new phenotype?
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2006;27(2):134-6.
2006: Marina Fanin; Anna Chiara Nascimbeni; Luigi Fulizio; Marco Spinazzi; Paola Melacini; Corrado Angelini
Generalized lysosome-associated membrane protein-2 defect explains multisystem clinical involvement and allows leukocyte diagnostic screening in Danon disease.
The American journal of pathology 2006;168(4):1309-20.
2005: Giulio Piluso; Luisa Politano; Stefania Aurino; Marina Fanin; Enzo Ricci; V M Ventriglia; A Belsito; A Totaro; V Saccone; Haluk Topaloglu; Anna Chiara Nascimbeni; Luigi Fulizio; A Broccolini; Nina Canki-Klain; Lucia I Comi; Ge Nigro; Corrado Angelini; Vincenzo Nigro
Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes.
Journal of medical genetics 2005;42(9):686-93.
2005: Pierluigi Mauri; Aldo Scarpa; Anna Chiara Nascimbeni; Louise Benazzi; Emanuela Parmagnani; Andrea Mafficini; marco della peruta; Claudio Bassi; Kaoru Miyazaki; Claudio Sorio
Identification of proteins released by pancreatic cancer cells by multidimensional protein identification technology: a strategy for identification of novel cancer markers.
FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2005;19(9):1125-7.
2005: Marina Fanin; Anna Chiara Nascimbeni; Luigi Fulizio; Corrado Angelini
The frequency of limb girdle muscular dystrophy 2A in northeastern Italy.
Neuromuscular disorders : NMD 2005;15(3):218-24.
2005: Eugenio Mercuri; Kate Bushby; Enzo Ricci; Daniel Birchall; Marika Pane; Maria Kinali; Joanna M Allsop; Vincenzo Nigro; Amets Sáenz; Anna Chiara Nascimbeni; Luigi Fulizio; Corrado Angelini; Francesco Muntoni
Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures.
Neuromuscular disorders : NMD 2005;15(2):164-71.
2005: Luigi Fulizio; Anna Chiara Nascimbeni; Marina Fanin; Giulio Piluso; Luisa Politano; Vincenzo Nigro; Corrado Angelini
Molecular and muscle pathology in a series of caveolinopathy patients.
Human mutation 2005;25(1):82-9.
2004: Marina Fanin; Luigi Fulizio; Anna Chiara Nascimbeni; Marco Spinazzi; Giulio Piluso; V M Ventriglia; G Ruzza; Gabriele Siciliano; Carlo Pietro Trevisan; Luisa Politano; Vincenzo Nigro; Corrado Angelini
Molecular diagnosis in LGMD2A: mutation analysis or protein testing?
Human mutation 2004;24(1):52-62.
2003: Corrado Angelini; Giovanna Cenacchi; Anna Chiara Nascimbeni; Luigi Fulizio
Morphological changes in late onset acid Maltase deficient patients with splicing gene mutation.
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology / edited by the Gaetano Conte Academy for the study of striated muscle diseases 2003;22(3):90-6.
2003: Marina Fanin; Anna Chiara Nascimbeni; Luigi Fulizio; Carlo Pietro Trevisan; Marija Meznaric-Petrusa; Corrado Angelini
Loss of calpain-3 autocatalytic activity in LGMD2A patients with normal protein expression.
The American journal of pathology 2003;163(5):1929-36.
2003: Andrea Martinuzzi; Elena Sartori; Marina Fanin; Anna Chiara Nascimbeni; Lucia Valente; Corrado Angelini; Gabriele Siciliano; Tiziana Mongini; Paola Tonin; Giuliano Tomelleri; Antonio Toscano; Luciano Merlini; Laurence A Bindoff; Stefano Bertelli
Phenotype modulators in myophosphorylase deficiency.
Annals of neurology 2003;53(4):497-502.
1999: Andrea Martinuzzi; G Schievano; Anna Chiara Nascimbeni; Marina Fanin
McArdle's disease. The unsolved mystery of the reappearing enzyme.
The American journal of pathology 1999;154(6):1893-7.