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Auteur Vattemi G |
Documents disponibles écrits par cet auteur



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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
Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Multiple acyl-COA dehydrogenase deficiency in elderly carriers
Macchione F, Salviati L, Bordugo A, et al.
Journal of neurology, 2020
Revue : Journal of neurology Titre : Multiple acyl-COA dehydrogenase deficiency in elderly carriers Type de document : Article Auteurs : Macchione F ; Salviati L ; Bordugo A ; Vincenzi M ; Camilot M ; Teofoli F ; Pancheri E ; Zordan R ; Bertolin C ; Rossi S ; Vattemi G ; Tonin P Editeur : Germany Année de publication : 01/2020 Langues : Anglais (eng) Mots-clés : acyl-CoA déshydrogénase (maladie neuromusculaire liée à) ; diagnostic différentiel ; étude de cas ; gène ETFDH ; lipidose musculaire ; maladie neuromusculaire ; myopathie métabolique héréditaire ; personne âgée ; prise en charge thérapeutique Pubmed / DOI : Pubmed : 31997039 / DOI : 10.1007/s00415-020-09729-z
N° Profil MNM : 2020013 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/31997039 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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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
Revue : Neuropathology and applied neurobiology, 44, 5 Titre : Evidence of ER stress and UPR activation in patients with Brody disease and Brody syndrome Type de document : Article Auteurs : Guglielmi V, Auteur ; Voermans NC ; Oosterhof A ; Nowis D ; van Engelen BG ; Tomelleri G ; Vattemi G Année de publication : 2018 Pages : p 533 Langues : Anglais (eng) Mots-clés : ATPase ; calcium intracellulaire ; contraction-relaxation ; équilibre calcique ; gène SERCA1 ; maladie de Brody ; muscle squelettique ; physiopathologie ; pompe à calcium ; réticulum endoplasmique ; réticulum sarcoplasmique ; structure protéique ; unfolded protein response Pubmed / DOI : DOI : 10.1111/nan.12431 / Pubmed : 28801956
En ligne : http://www.ncbi.nlm.nih.gov/pubmed/28801956 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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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
Revue : Human mutation, 38, 12 Titre : Identification and characterization of three novel mutations in the CASQ1 gene in four patients with tubular aggregate myopathy Type de document : Article Auteurs : Barone V, Auteur ; Del Re V ; Gamberucci A ; Polverino V ; Galli L ; Rossi D ; Costanzi E ; Toniolo L ; Berti G ; Malandrini A ; Ricci G ; Siciliano G ; Vattemi G ; Tomelleri G ; Pierantozzi E ; Spinozzi S ; Volpi N ; Fulceri R ; Battistutta R ; Reggiani C ; Sorrentino V Année de publication : 2017 Pages : p 1761 Langues : Anglais (eng) Mots-clés : calcium intracellulaire ; calséquestrine ; calséquestrine (maladie neuromusculaire liée à) ; diagnostic génétique ; équilibre calcique ; étude de cas ; fibre musculaire ; gène CASQ1 ; histopathologie musculaire ; métabolisme calcique ; muscle squelettique ; mutation génétique ; myopathie à agrégats tubulaires ; physiopathologie Pubmed / DOI : Pubmed : 28895244 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/28895244 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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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
Revue : Human mutation, 35, 10 Titre : A Mutation in the CASQ1 Gene Causes a Vacuolar Myopathy with Accumulation of Sarcoplasmic Reticulum Protein Aggregates Type de document : Article Auteurs : Rossi D ; Vezzani B ; Galli L ; Paolini C ; Toniolo L ; Pierantozzi E ; Spinozzi S ; Barone V ; Pegoraro E ; Bello L ; Cenacchi G ; Vattemi G ; Tomelleri G ; Ricci G ; Siciliano G ; Protasi F ; Reggiani C ; Sorrentino V Année de publication : 2014 Pages : p 1163 Langues : Anglais (eng) Mots-clés : calcium intracellulaire ; calséquestrine ; calséquestrine (maladie neuromusculaire liée à) ; étude de cas ; étude transversale ; examen clinique ; fibre musculaire striée ; muscle squelettique ; mutation faux-sens ; phénotype ; réticulum sarcoplasmique ; vacuole Pubmed / DOI : DOI : 10.1002/humu.22631 / Pubmed : 25116801
En ligne : http://www.ncbi.nlm.nih.gov/pubmed/25116801 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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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
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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.
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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