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Clinical, morphological and genetic characterization of Brody disease: an international study of 40 patients
Molenaar JP, Verhoeven JI, Rodenburg RJ, et al.
Brain : a journal of neurology, 2020, 143, 2, p 452
Multiple acyl-COA dehydrogenase deficiency in elderly carriers
Macchione F, Salviati L, Bordugo A, et al.
Journal of neurology, 2020
Evidence of ER stress and UPR activation in patients with Brody disease and Brody syndrome
Guglielmi V, Voermans NC, Oosterhof A, et al.
Neuropathology and applied neurobiology, 2018, 44, 5, p 533
Identification and characterization of three novel mutations in the CASQ1 gene in four patients with tubular aggregate myopathy
Barone V, Del Re V, Gamberucci A, et al.
Human mutation, 2017, 38, 12, p 1761
A Mutation in the CASQ1 Gene Causes a Vacuolar Myopathy with Accumulation of Sarcoplasmic Reticulum Protein Aggregates
Rossi D, Vezzani B, Galli L, et al.
Human mutation, 2014, 35, 10, p 1163
Fourty-four yearrs of Brody disease : It is time to review
Guglielmi V, Voermans NC, Gualandi F, et al.
Journal of genetic syndrome and gene therapy, 2013, 4, 9, p. 1-8
Persistent dystrophin protein restoration 90 days after a course of intraperitoneally administered naked 2'OMePS AON and ZM2 NP-AON complexes in mdx mice
Bassi E, Falzarano S, Fabris M, et al.
Journal of biomedicine and biotechnology, 2012, 2012, 897076, 8 p.
Adult-onset muscular dystrophy in a cat associated with a presumptive alteration in trafficking of caveolin-3
Salvadori C, Vattemi G, Marini M, et al.
Journal of comparative pathology, 2012, 147, 2-3, p. 253-258
Brody syndrome: A clinically heterogeneous entity distinct from Brody disease : A review of literature and a cross-sectional clinical study in 17 patients
Voermans NC, Laan AE, Oosterhof A, et al.
Neuromuscular disorders : NMD, 2012, 22, 11, p. 944-954
Brody syndrome: a clinically heterogeneous entity distinct from Brody disease: a review of literature and a cross-sectional clinical study in 17 patients
Voermans NC, Laan AE, Oosterhof A, et al.
Neuromuscular disorders : NMD, 2012, 22, 11, p 944
Clinical, morphological and genetic studies in a cohort of 21 patients with myofibrillar myopathy
Vattemi G, Neri M, Piffer S, et al.
Acta myologica, 2011, 30, 2, p. 121-126
Dystrophin restoration in skeletal, heart and skin arrector pili smooth muscle of mdx mice by ZM2 NP-AON complexes
Ferlini A, Sabatelli P, Fabris M, et al.
Gene therapy, 2010, 17, 3, p. 432-438
Brody disease : insights into biochemical features of SERCA1 and identification of a novel mutation
Vattemi G, Gualandi F, Oostherhof A, et al.
Journal of neuropathology and experimental neurology, 2010, 69, 3, p. 246-252
Cationic PMMA nanoparticles bind and deliver antisense oligoribonucleotides allowing restoration of dystrophin expression in the mdx mouse
Rimessi P, Sabatelli P, Fabris M, et al.
Molecular therapy, 2009, 17, 5, p. 820-827
Chronic ophthalmoplegia in limb-girdle muscular dystrophy 1C
Filosto M, Tonin P, Vattemi G, et al.
Congrès : Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France)
2008, p. 200
Evidence for increased protein nitration in vessel wall of mitochondrial disease patients
Vattemi G, Marini M, Mechref Y, et al.
Congrès : Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France)
2008, p. 344
Novel mitochondrial tRNA Leu (CUN) transition and D4Z4 partial deletion in a patient with a facioscapulohumeral phenotype
Filosto M, Tonin P, Scarpelli M, et al.
Neuromuscular disorders : NMD, 2008, 18, 3, p. 204-209
The systemic administration of a low dose of 2OMePS-AON combined with novel cationic polymethylmethacrylate nanoparticles induces the rescue of dystrophin expression in the mdx murine model (Poster)
Collectif, Rimessi P, Sabatelli P, et al.
Neuromuscular disorders : NMD, 2008, 18, 9-10, p. 758
The systemic administration of a low dose of 2OMePS-AON combined with novel cationic polymethyl methacrylate nanoparticles induces the rescue of dystrophin expression in both cardiac and skeletal muscles in the mdx murine model
Rimessi P, Sabatelli P, Braghetta P, et al.
Congrès : Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France)
2008, p. 35
The role of muscle biopsy in investigating isolated muscle pain
Filosto M, Tonin P, Vattemi G, et al.
Neurology, 2007, 68, 3, p. 181-186
SERCA1 and calsequestrin storage myopathy : a new surplus protein myopathy
Tomelleri G, Palmucci L, Tonin P, et al.
Brain, 2006, 129, 8, p. 2085-2092
Expression of protein kinase C isoforms and interleukin-1beta in myofibrillar myopathy
Vattemi G, Tonin P, Mora M, et al.
Neurology, 2004, 62, 10, p. 1778-1782
Amyloid-beta42 is preferentially deposited in muscle biopsies of patients with sporadic inclusion-body myositis (s-IBM)
Vattemi G, Checler F, Engel WK, et al.
Congrès : 55th Annual Meeting program (American Academy of Neurology; March 29 - April 5, 2003; Honolulu, Hawaii)
Neurology, 2003, 60, 5, Suppl 1, p. A333-A334
The Val122IIe mutation in the transthyretin gene predisposes to accumulation of amyloid-beta (ABeta) and development of the inclusion-body myositis (IBM) phenotype in cultured human muscle fibers
McFerrin J, Engel WK, Vattemi G, et al.
Congrès : 55th Annual Meeting program (American Academy of Neurology; March 29 - April 5, 2003; Honolulu, Hawaii)
Neurology, 2003, 60, 5, Suppl 1, p. A-333
Transthyretin Val122Ile, accumulated A-beta, and inclusion-body myositis aspects in cultured muscle
Askanas V, Engel WK, McFerrin J, et al.
Neurology, 2003, 61, 2, p. 257-60
