Servizi e Laboratori » Unità Operativa
Semplice – (U.O.S.) Diagnostica
delle Malattie Neuromuscolari » Pubblicazioni
Lavori originali (2009-2003)
Lamperti, C., Moggio M. Muscular Dystrophies: Histology, Immunohistochemistry, Molecular Genetics and Management. Curr Pharm Des. 2009.
Fagiolari G, Cappellini A, Cagliani R, Prelle A, Lucchini V, Fortunato F, Locatelli F, Crugnola V, Comi GP, Bresolin N, Moggio M, Lamperti C. Muscular Dystrophy: Central Nervous System {alpha}-Dystroglycan Glycosylation Defects and Brain Malformation. J Child Neurol. 2009.
Di Fonzo A, Ronchi D, Lodi T, Fassone E, Tigano M, Lamperti C, Corti S, Bordoni A, Fortunato F, Nizzardo M, Napoli L, Donadoni C, Salani S, Saladino F, Moggio M, Bresolin N, Ferrero I, Comi GP. The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiency. Am J Hum Genet, 84:594-604; 2009.
Lamperti C, Salani S, Lucchiari S, Bordoni A, Ripolone M, Fagiolari G, Fruguglietti ME, Crugnola V, Colombo C, Cappellini A, Prelle A, Bresolin N, Comi GP, Moggio M. Neuropathological study of skeletal muscle, heart, liver, and brain in a neonatal form of glycogen storage disease type IV associated with a new mutation in GBE1 gene. J Inherit Metab Dis. 2009.
Fruguglietti ME, Napoli L, Sciacco M, Ripolone M, Serafini M, Grimoldi N, Bresolin N, Moggio M, Prelle A. Severe acute multineuropathy in Churg-Strauss syndrome in a patient with a history of melanoma. Clin Neuropathol, 28:125-8; 2009.
Mercuri E, Messina S, Bruno C, Mora M, Pegoraro E, Comi GP, D'Amico A, Aiello C, Biancheri R, Berardinelli A, Boffi P, Cassandrini D, Laverda A, Moggio M, Morandi L, Moroni I, Pane M, Pezzani R, Pichiecchio A, Pini A, Minetti C, Mongini T, Mottarelli E, Ricci E, Ruggieri A, Saredi S, Scuderi C, Tessa A, Toscano A, Tortorella G, Trevisan CP, Uggetti C, Vasco G, Santorelli FM, Bertini E. Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. Neurology, 72:1802-9; 2009.
Virgilio R, Ronchi D, Bordoni A, Fassone E, Bonato S, Donadoni C, Torgano G, Moggio M, Corti S, Bresolin N, Comi GP. Mitochondrial DNA G8363A mutation in the tRNA Lys gene: clinical, biochemical and pathological study. J Neurol Sci., 281:85-92. 2009 Review.
Colussi C, Gurtner A, Rosati J, Illi B, Ragone G, Piaggio G, Moggio M, Lamperti C, D'Angelo G, Clementi E, Minetti G, Mozzetta C, Antonini A, Capogrossi MC, Puri PL, Gaetano C. Nitric oxide deficiency determines global chromatin changes in Duchenne muscular dystrophy. FASEB J., 23:2131- 41. 2009.
Corti S, Donadoni C, Ronchi D, Bordoni A, Fortunato F, Santoro D, Del Bo R, Lucchini V, Crugnola V, Papadimitriou D, Salani S, Moggio M, Bresolin N, Comi GP. Amyotrophic lateral sclerosis linked to a novel SOD1 mutation with muscle mitochondrial dysfunction. J Neurol Sci., 276:170-4. 2009.
Lanfranconi S, Corti S, Bersano A, Costa A, Prelle A, Sciacco M, Bresolin N, Ghione I. Aphasic and visual aura with increased vasogenic leakage: an atypical migrainosus status. J Neurol Sci.; 285:227-9. 2009
Del Bo R, Ghezzi S, Corti S, Pandolfo M, Ranieri M, Santoro D, Ghione I, Prelle A, Orsetti V, Mancuso M, Sorarù G, Briani C, Angelini C, Siciliano G, Bresolin N, Comi GP. TARDBP (TDP-43) sequence analysis in patients with familial and sporadic ALS: identification of two novel mutations. Eur J Neurol.;16:727-32. 2009.
Tiranti V, Viscomi C, Hildebrandt T, Di Meo I, Mineri R, Tiveron C, Levitt MD, Prelle A, Fagiolari G, Rimoldi M, Zeviani M. Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy. Nat Med.; 15:200-5. 2009.
Agosta F, Rocca MA, Valsasina P, Sala S, Caputo D, Perini M, Salvi F, Prelle A, Filippi M. A longitudinal diffusion tensor MRI study of the cervical cord and brain in amyotrophic lateral sclerosis patients. J Neurol Neurosurg Psychiatry.;80:53-5. 2009.
Salvaterra E, Lecchi L, Giovanelli S, Butti B, Bardella MT, Bertazzi PA, Bosari S, Coggi G, Coviello DA, Lalatta F, Moggio M, Nosotti M, Zanella A, Rebulla P. Banking together. A unified model of informed consent for biobanking. EMBO Rep.9:307-13; 2008.
Virgilio R, Ronchi D, Hadjigeorgiou GM, Bordoni A, Saladino F, Moggio M, Adobbati L, Kafetsouli D, Tsironi E, Previtali S, Papadimitriou A, Bresolin N, Comi GP. Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia. J Neurol. 255:1384-91; 2008.
Bo RD, Ghezzi S, Corti S, Santoro D, Prelle A, Mancuso M, Siciliano G, Briani C, Murri L, Bresolin N, Comi GP. DPP6 gene variability confers increased risk of developing sporadic amyotrophic lateral sclerosis in Italian patients. J Neurol Neurosurg Psychiatry. 79:1085; 2008.
S. Lucchiari, S. Pagliarani, S. Corti, E. Mancinelli, M. Servida, E. Fruguglietti, V. Sansone, M. Moggio, N. Bresolin, G.P. Comi and G. Meola. Colocalization of ribonuclear inclusions with muscle blind like-proteins in a family with myotonic dystrophy type 2 associated with a short CCTG expansion. J Neurol Sci. 275:159-63; 2008.
Guglieri M, Magri F, D'Angelo MG, Prelle A, Morandi L, Rodolico C, Cagliani R, Mora M, Fortunato F, Bordoni A, Del Bo R, Ghezzi S, Pagliarani S, Lucchiari S, Salani S, Zecca C, Lamperti C, Ronchi D, Aguennouz M, Ciscato P, Di Blasi C, Ruggieri A, Moroni I, Turconi A, Toscano A, Moggio M, Bresolin N, Comi GP. Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients. Hum Mutat. 29:258-66; 2008.
Del Bo R, Moggio M, Rango M, Bonato S, D'Angelo MG, Ghezzi S, Airoldi G, Bassi MT, Guglieri M, Napoli L, Lamperti C, Corti S, Federico A, Bresolin N, Comi GP. Mutated mitofusin 2 presents with intrafamilial variability and brain mitochondrial dysfunction. Neurology. 71:1959-66; 2008.
Corti S, Bordoni A, Ronchi D, Musumeci O, Aguennouz M, Toscano A, Lamperti C, Bresolin N, Comi GP. Clinical features and new molecular findings in Carnitine Palmitoyltransferase II (CPT II) deficiency. J Neurol SciMar 266: 97-103; 2008.
Agosta F, Pagani E, Rocca MA, Caputo D, Perini M, Salvi F, Prelle A, Filippi M. Voxel-based morphometry study of brain volumetry and diffusivity in amyotrophic lateral sclerosis patients with mild disability. Hum Brain Mapp. 28: 1430-8; 2007.
Baracca A, Sgarbi G, Mattiazzi M, Casalena G, Pagnotta E, Valentino ML, Moggio M, Lenaz G, Carelli V, Solaini G. Biochemical phenotypes associated with the mitochondrial ATP6 gene mutations at nt8993. Biochim Biophys Acta. 1767:913-9; 2007.
Beghi E, Millul A, Micheli A, Vitelli E, Logroscino G; SLALOM Group (Prelle A). Incidence of ALS in Lombardy, Italy. Neurology 68:141-5; 2007.
Bersano A, Del Bo R, Lamperti C, Ghezzi S, Fagiolari G, Fortunato F, Ballabio E, Moggio M, Candelise L, Galimberti D, Virgilio R, Lanfranconi S, Torrente Y, Carpo M, Bresolin N, Comi GP, Corti S. Inclusion body myopathy and frontotemporal dementia caused by a novel VCP mutation. Neurobiol Aging. 284:113-5. 2007.
Dell'agnello C, Leo S, Agostino A, Szabadkai G, Tiveron C, Zulian A, Prelle A, Roubertoux P, Rizzuto R, Zeviani M. Increased longevity and refractoriness to Ca2+-dependent neurodegeneration in Surf1 knockout mice. Hum Mol Genet. 16:431-44; 2007.
Eisenberg I, Eran A, Nishino I, Moggio M, Lamperti C, Amato AA, Lidov HG, Kang PB, North KN, Mitrani-Rosenbaum S, Flanigan KM, Neely LA, Whitney D, Beggs AH, Kohane IS, Kunkel LM. Distinctive patterns of microRNA expression in primary muscular disorders. Proc Natl Acad Sci U S A 104:17016-21; 2007.
Ghezzi S, Del Bo R, Scarlato M, Nardini M, Carlesi C, Prelle A, Corti S, Mancuso M, Briani C, Siciliano G, Murri L, Bresolin N, Comi GP. Is erythropoietin gene a modifier factor in amyotrophic lateral sclerosis? Neurobiol Aging. 30:842-4.2007.
Guglieri M, Magri F, D'Angelo MG, Prelle A, Morandi L, Rodolico C, Cagliani R, Mora M, Fortunato F, Bordoni A, Bo RD, Ghezzi S, Pagliarani S, Lucchiari S, Salani S, Zecca C, Lamperti C, Ronchi D, Aguennouz M, Ciscato P, Blasi CD, Ruggieri A, Moroni I, Turconi A, Toscano A, Moggio M, Bresolin N, Comi GP. Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients. Hum Mutat. 29:258-66.2007.
Laurà M, Milani M, Morbin M, Moggio M, Ripolone M, Jann S, Scaioli V, Taroni F, Pareyson D. Rapid progression of late onset axonal Charcot-Marie-Tooth disease associated with a novel MPZ mutation in the extracellular domain. J Neurol Neurosurg Psychiatry. 78:1263-6; 2007.
Marchesi C, Pluderi M, Colleoni F, Belicchi M, Meregalli M, Farini A, Parolini D, Draghi L, Fruguglietti ME, Gavina M, Porretti L, Cattaneo A, Battistelli M, Prelle A, Moggio M, Borsa S, Bello L, Spagnoli D, Gaini SM, Tanzi MC, Bresolin N, Grimoldi N, Torrente Y. Skin-derived stem cells transplanted into resorbable guides provide functional nerve regeneration after sciatic nerve resection. Glia. 55:425-38; 2007.
Milic A, Daniele N, Lochmuller H, Mora M, Comi GP, Moggio M, Noulet F, Walter MC, Morandi L, Poupiot J, Roudaut C, Bittner RE, Bartoli M, Richard I. A third of LGMD2A biopsies have normal calpain 3 proteolytic activity as determined by an in vitro assay. Neuromuscul Disord. 17:148-56; 2007.
Torrente Y, Belicchi M, Marchesi C, Dantona G, Cogiamanian F, Pisati F, Gavina M, Giordano R, Tonlorenzi R, Fagiolari G, Lamperti C, Porretti L, Lopa R, Sampaolesi M, Vicentini L, Grimoldi N, Tiberio F, Songa V, Baratta P, Prelle A, Forzenigo L, Guglieri M, Pansarasa O, Rinaldi C, Mouly V, Butler-Browne GS, Comi GP, Biondetti P, Moggio M, Gaini SM, Stocchetti N, Priori A, D'Angelo MG, Turconi A, Bottinelli R, Cossu G, Rebulla P, Bresolin N. Autologous transplantation of muscle-derived CD133+ stem cells in Duchenne muscle patients. Cell Transplant.;16:563-77; 2007.
Valsasina P, Agosta F, Benedetti B, Caputo D, Perini M, Salvi F, Prelle A, Filippi M. Diffusion anisotropy of the cervical cord is strictly associated with disability in amyotrophic lateral sclerosis. J Neurol Neurosurg Psychiatry. 78: 480-4; 2007.
Lamperti C, Cagliani R, Ciscato P, Moroni I, Viri M, Romeo A, Fagiolari G, Oprelle A, Comi GP, Bresolin N, Moggio M. Congenital muscular dystrophy with muscle inflammation alpha dystroglycan glycosylation defect and no mutation in FKRP gene. J. Neurol Sci 243:47-51; 2006.
Del Bo R, Locatelli F, Corti S, Scarlato M, Ghezzi S, Prelle A, Fagiolari G, Moggio M, Carpo M, Bresolin N, Comi GP. Coexistence of CMT-2D and distal SMA-V phenotypes in an Italian family with a GARS gene mutation. Neurology. 66:752-4; 2006.
D'Adda E, Sciacco M, Fruguglietti ME, Crugnola V, Lucchini V, Martinelli-Boneschi F, Zecca C, Lamperti C, Comi GP, Bresolin N, Moggio M, Prelle A. Follow-up of a large population of asymptomatic/oligosymptomatic hyperckemic subjects. Journal of Neurology 253;1399-1403; 2006.
Bruno C, Cassandrini D, Martinuzzi A, Toscano A, Moggio M, Morandi L, Servidei S, Mongini T, Angelini C, Musumeci O, Comi GP, Lamperti C, Filosto M, Zara F, Minetti C. McArdle disease: the mutation spectrum of PYGM in a large Italian cohort. Hum Mutat. 27:718. 2006.
Crippa F, Panzeri C, Martinuzzi A, Arnoldi A, Redaelli F, Tonelli A, Baschirotto C, Vazza G,Mostacciuolo ML, Daga A, Orso G, Profice P, Trabacca A, D'Angelo MG, Comi GP, Galbiati S, Lamperti C, Bonato S,Pandolfo M,Meola G, Musumeci O, Toscano A, Trevisan CP, Bresolin N, Bassi MT. Eight novel mutations in SPG4 in a large sample of patients with hereditary spastic paraplegia. Arch Neurol. 63:750-5; 2006.
Galbiati S, Bordoni A, Papadimitriou D,Toscano A,Rodolico C, Katsarou E, Sciacco M Garufi A, Prelle A, Aguennouz M, Bonsignore M, Crimi M, Martinuzzi A, Bresolin N, Papadimitriou A, Comi GP. New mutations in TK2 gene associated with mitochondrial DNA depletion. Pediatr Neurol. 34:177-85. 2006.
Morandi L, Angelini C, Prelle A, Pini A, Grassi B, Bernardi G, Politano L, Bruno C, De Grandis D, Cudia P, Citterio A. High plasma creatine kinase: review of the literature and proposal for a diagnostic algorithm. Neurol Sci. 27:303-11. 2006.
Del Bo R, Scarlato M, Ghezzi S, Martinelli-Boneschi F, Corti S, Locatelli F, Santoro D, Prelle A, Briani C, Nardini M, Siciliano G, Mancuso M, Murri L, Bresolin N, Comi GP. Absence of angiogenic genes modification in Italian ALS patients. Neurobiol Aging. 2006 Nov 16.
Valsasina P, Agosta F, Benedetti B, Caputo D, Perini M, Salvi F, Prelle A, Filippi M. Diffusion anisotropy of the cervical cord is strictly associated with disability in ALS. J Neurol Neurosurg Psychiatry. 2006 Oct 27.
Gabellini D, D'Antona G, Moggio M, Prelle A, Zecca C, Adami R, Angeletti B, Ciscato P, Pellegrino MA, Bottinelli R, Green MR, Tupler R. Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1. Nature. 439.973-7. 2006.
Cagliani R. Magri F. Toscano A. Merlini L. Fortunato F. Lamperti C. Rodolico C. Prelle A. Sironi M. Aguennouz M. Ciscato P. Uncini A. Moggio M. Bresolin N. Comi GP.
Mutation finding in patients with dysferlin deficiency and role of the dysferlin interacting proteins annexin A1 and A2 in muscular dystrophies. [Journal Article] Human Mutation. 26(3):283, 2005.
Beffy P, Barsanti C, Del Carratore R, Simi S, Benedetti PA, Benzi L, Prelle A, Ciscato P, Simili M.
Expression and localization of myotonic dystrophy protein kinase in human skeletal muscle cells determined with a novel antibody: possible role of the protein in cytoskeleton rearrangements during differentiation. Cell Biol Int. 29:742-53; 2005.
Lamperti C, Naini AB, Lucchini V, Prelle A, Bresolin N, Moggio M, Sciacco M, Kaufmann P, Dimauro S. Muscle Coenzyme Q10 Level in Statin-Related Myopathy.
Arch Neurol. 62:1709-1712; 2005.
Gabellini D, D'Antona G, Moggio M, Prelle A, Zecca C, Adami R, Angeletti B, Ciscato P, Pellegrino MA, Bottinelli R, Green MR, Tupler R.
Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1. Nature. 439: 973-7; 2005.
Zanotti S, Negri T, Cappelletti C, Bernasconi P, Canioni E, Di Blasi C, Pegoraro E, Angelini C, Ciscato P, Prelle A, Mantegazza R, Morandi L, Mora M.
Decorin and biglycan expression is differentially altered in several muscular dystrophies.
Brain. 128 (Pt 11): 2546-55; 2005.
Sciacco M, Prelle A, Fagiolari G, Bordoni A, Crimi M, Di Fonzo A, Ciscato P, Lamperti C, D'Adda E, Jann S, Bresolin N, Comi GP, Moggio M.
A case of CPT deficiency, homoplasmic mtDNA mutation and ragged red fibers at muscle biopsy. J Neurol Sci. 239: 21-4; 2005.
Millul A., Beghi E., Logroscino G., Micheli A., Vitelli E., Zardi A., for the ‘Registro Lombardo SLA’.Survival of patients with Amniotrophic Lateral Sclerosis in a population-based registry. Neuroepidemiology 25:114-119; 2005.
Giromi M, Lamperti C, Nemni R, Moggio M, Comi G, Guerini FR, Ferrante P, Canal N, Naini A, Bresolin N, Di Mauro S. Late-onset cerebellar ataxia with hypogonadism and muscle coenzyme Q10 deficiency. Neurology, 62:818-20; 2004.
Cagliani R, Sironi M, Ciafaloni E, Bardoni A, Fortunato F, Prelle A, Serafini M, Bresolin N, Comi GP. An intragenic deletion/inversion event in the DMD gene determines a novel exon creation and results in a BMD phenotype. Hum Genet. 115:13-8. 2004.
Crimi M, Galbiati S, Sciacco M, Bordoni A, Natali MG, Raimondi M, Bresolin N, Comi GP. Mitochondrial –DNA nucleotides G4298A and T10010C as pathogenic mutations : the confirmation in two new cases. Mitochondrion, 3: 279-283; 2004.
Prelle A, Sciacco M, Tancredi L, Fagiolari G, Comi GP, Ciscato P, Serafini M, Fortunato F, Zecca C, Gallanti A, Chiveri L, Bresolin N, Scarlato G, Moggio M. Clinical, morphological and immunological evaluation of six patients with dysferlin deficiency. Acta Neuropathol (Berl) 105: 537-42; 2003.
Sciacco M, Prelle A, D’Adda E, Lamperti C, Bordoni A, Rango M, Crimi M, Comi GP, Bresolin N and Moggio M. Familial mtDNA T8993C transition causing both the NARP and the MILS phenotype in the same generation. A morphological, genetic and spectroscopic study. J Neurol, 250:1498-500; 2003.
Lamperti C, Naini A, Hirano M, De Vivo DC, Bertini E, Servidei S, Valeriani M, Lynch D, Banwell B, Berg M, Dubrovsky T, Chiriboga C, Angelini C, Pegoraro E, DiMauro S. Cerebellar ataxia and coenzyme Q10 deficiency. Neurology 60:1206-8; 2003.
Chiveri L, Sciacco M, Prelle A. Schizophreniform disorder with cerebrospinal fluid PCR positivity for herpes simplex virus type 1. Eur Neurol, 50:182-3. 2003.
Agostino A, Invernizzi F, Tiveron C, Fagiolari G, Prelle A, Lamantea E, Giavazzi A, Battaglia G, Tatangelo L, Tiranti V, Zeviani M. Constitutive knockout of Surf1 is associated with high embryonic lethality, mitochondrial disease and cytochrome c oxidase deficiency in mice. Hum Mol Genet, 12:399-413. 2003.
Cagliani R, Bardoni A, Sironi M, Fortunato F, Prelle A, Felisari G, Bonaglia MC, D'Angelo MG, Moggio M, Bresolin N, Comi GP. Two dystrophin proteins and transcripts in a mild dystrophinopathic patient. Neuromuscul Disord, 13:13-6. 2003.
Cagliani R, Fortunato F, Giorda R, Rodolico C, Bonaglia MC, Sironi M, D'Angelo MG, Prelle A, Locatelli F, Toscano A, Bresolin N, Comi GP. Molecular analysis of LGMD-2B and MM patients: identification of novel DYSF mutations and possible founder effect in the Italian population. Neuromuscul Disord, 13:788-95. 2003.
Cagliani R, Bresolin N, Prelle A, Gallanti A, Fortunato F, Sironi M, Ciscato P, Fagiolari G, Bonato S, Galbiati S, Corti S, Lamperti C, Moggio M, Comi GP. A CAV3 microdeletion differentially affects skeletal muscle and myocardium. Neurology, 61:1513-1519. 2003.
Crimi M, Galbiati S, Moroni I, Bordoni A, Perini MP, Lamantea E, Sciacco M, Zeviani M, Biunno I, Moggio M, Scarlato G, Comi GP. A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome. Neurology, 60:1857-61; 2003.
Crimi M, Galbiati S, Perini MP, Bordoni A, Malferrari G, Sciacco M, Biunno I, Strazzer S, Moggio M, Bresolin N, Comi GP. A mitochondrial tRNA(His) gene mutation causing pigmentary retinopathy and neurosensorial deafness. Neurology 60:1200-3. 2003.
Crimi M, Del Bo R, Galbiati S, Sciacco M, Bordoni A, Bresolin N, Comi GP. Mitochondrial A12308G polymorphism affects clinical features in patients with single mtDNA macrodeletion. Eur J Hum Gen 11: 896-898. 2003.
Del Bo R, Crimi M, Sciacco M, Malferrari G, Bordoni A, Napoli L, Prelle A, Biunno I, Moggio M, Bresolin N, Scarlato G, Pietro Comi G. High mutational burden in the mtDNA control region from aged muscles: a single-fiber study. Neurobiol Aging 24: 829-38. 2003.
Del Bo R, Baron P, Prelle A, Serafini M, Moggio M, Di Fonzo A, Castagni M, Bresolin N, Comi GP. Novel missense mutation and large deletion of GNE gene in autosomal-recessive inclusion-body myopathy. Muscle Nerve 28: 113-7. 2003.
Del Bo R, Bordoni A, Sciacco M, Di Fonzo A, Galbiati S, Crimi M, Bresolin N, Comi GP. Remarkable infidelity of polymerase gammaA associated with mutations in POLG1 exonuclease domain. Neurology 61: 903-908. 2003.
Mancuso M, Filosto M, Tsujino S, Lamperti C, Shanske S, Coquet M, Desnuelle C, Di Mauro S. Muscle glycogenosis and mitochondrial hepatopathy in an infant with mutations in both the myophosphorylase and deoxyguanosine kinase genes. Arch Neurol 60:1445-7. 2003.
M.Vytopil, S.Benendetti, E.Ricci, G.Galluzzi, A.Dello Russo, L.Merlini, G.Booriani, M.Gallina, L.Morandi, L.Politano, M.Moggio, L.Chiveri, I.Hausmanova-Petrusewicz, R.Ricotti, S.Vohanka. J.Toman, D.Toniolo. Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes. J Med Genet; 40 (12). 2003.
Comunicazioni a congressi (2000-2005)
Apoptosis in mitochondrial encephalomyopathies. Fagiolari G, Sciacco
M, Bazzi P, Messina S, Lamperti C, Napoli L, Prelle A, Comi GP,
Bresolin N. Chiveri L, Scarlato G, Moggio M. Neurology 54, 7, suppl
3, 181,
2000.
Primary Beta-Sarcoglycanopathy manifesting as recurrent exercice-induced
myoglobinuria. Cagliani R, Comi GP, Sironi M, Fortunato F, Giorda
R, Tancredi L, Bardoni A, Moggio M, Bresolin N. XXXVI Congresso
Nazionale Associazione Italiana di Neuropatologia. Arezzo 26-27/5/2000.
Apoptosis in myoblast transplantation. Torrente Y, Fagiolari G,
Gallanti A, Lamperti C, Salani S, Pisati F, Corti S, Comi GP, Moggio
M, Bresolin
N.
XXXVI Congresso Nazionale Associazione Italiana di Neuropatologia.
Arezzo 26-27/5/2000.
Morphological aspects in denervated rat muscles after spiky administration
of large pool of aminoacids. Rapuzzi S. Bet L, Bazzi P, Marabini
L, Serafini M, Fagiolari G, Dioguardi FS, Prelle A, Moggio M, Mariani
C. XXXVI Congresso Nazionale Associazione Italiana di Neuropatologia.
Arezzo 26-27/5/2000.
Apoptosis in myoblast transplantation. Torrente Y, Fagiolari G,
Gallanti A, Lamperti C, Salani S, Pisati F, Corti S, Comi GP, Moggio
M, Bresolin
N, Scarlato G. Neurology 54, 7, suppl 3, p474, 2000.
A MND sporadic case with 113T SOD 1 mutation and pseudopolyneuritic
clinical presentation. Silani V, Cardin V, Braga M, Gallanti A,
Botturi A, Ciammola A, Gellera C, Scarlato G.
Beta-Enolase Deficiency, a New Metabolic Myopathy of Distal Glycolysis
G.P.Comi,F.Fortunato,S.Lucchiari,A.Bordoni,A.Prelle,S.Jann,A.Keller,
P.Ciscato,S.Galbiati,L.Chiveri,Y.Torrente,G.Scarlato,N.Bresolin
53rd Annual Meeting of the American Academy of Neurology. Philadelphia,
PA, USA, May 6-13, 2001 Neurology, 58: S3, A341, 2001.
Torrente Y, Fagiolari G, Gallanti A, Lamperti C, Salani S, Pisati
F, Cotri S, Comi GP, Moggio M, Bresolin N, Scarlato G. Apoptosis
in myoblast transplantation. American Academy of Neurology, Neurology,
2001, P474.
Napoli L., Bordoni A., Comi G.P., Zeviani N., Terentiou A., Sciacco
M., Tiranti V., Prelle A., Moggio M., Papadimitriou A., Scarlato
G. Novel missense mutation of ANT1 gene in autosomal dominant progressive
external ophthalmoplegia. Eleventh Meeting of the European Neurological
Society, 21-25 April 2001, Paris, France Journal of Neurology,
248: 40, 2001
Del Bo R., Comi G.P., Sciacco M., Napoli L., Bresolin N., Scarlato
G. Specific ageing-related mutations in the human mtDNA control
region from normal muscles: a single-fiber study. Eleventh Meeting
of the
European Neurological Society, 21-25 April 2001, Paris, France
Journal of Neurology, 248: 91, 2001
Cagliani R., Comi G.P., Felisari G., Sironi M., Tancredi L., Prelle
A., Fortunato F., Moggio M., D'Angelo M.G., Scarlato G. Heart involvement
in primary alpha-sarcoglycanopathy Eleventh Meeting of the European
Neurological Society, 21-25 April 2001, Paris, France Journal of
Neurology, 248: 91, 2001
Sciacco M., Fagiolari G., Lamperti C., Prelle A., Chiveri L., Comi
G.P., Bordoni A., Perini M.P., Scarlato G., Moggio M. Lack of apoptosis
in muscle tissue of patients with mutations of the Adenine Nucleotide
Translocator 1 gene. Eleventh Meeting of the European Neurological
Society, 21-25 April 2001, Paris, France Journal of Neurology,
248: 181, 2001
Perini MP, Sciacco M.,Galbiati S, Bordoni A, Lamperti C., Comi
GP, Moggio M, Messina S. Bresolin N, Scarlato G A late onset multisystem
disorder with muscle mitochondrial DNA depletion. Euromit Meeting.
Venice San Servolo, September 20-23, 2001.Mitochondrion S74.
Comi G.P., Napoli L., Bordoni A., Zeviani M., Terentiou A., Sciacco
M., Tiranti L., Prelle A., Perini M.P., Papadimitriou A., Scarlato
G. Novel missense L98P mutation of ANT1 gene in a Greek AD-PEO
family Euromit Meeting. Venice San Servolo, September 20-23, 2001.
Mitochondrion
S40.
Sciacco M., Comi G.P., Rango M., Prelle A., Lamperti C., D'Adda
E., Perini M.P., Bordoni A., Galbiati S., Scarlato G., Moggio M
Familial
mtDNA T8993C transition causing both the NARP and the MILS phenotype
in the same generation: a morphologic, genetic, and spectroscopic
study. Euromit Meeting. Venice San Servolo, September 20-23, 2001.Mitochondrion
S85.
Prelle A, Fagiolari G, Sciacco M, Lamperti C, Chiveri L, Comi GP,
Bordoni A, Perini MP, Scarlato G and Moggio M. No evidence of apoptosis
in skeletal muscle tissue of PEO patients with mutations in the
Adenine Nucleotide Translocator 1 gene Euromit Meeting. Venice
San Servolo,
September 20-23, 2001. Mitochondrion S77.
G.P. Comi, F. Fortunato, S. Lucchiari, A. Bordoni, A. Prelle, S.
Jann, A. Keller, P. Ciscato, S. Galbiati, L. Chiveri, Y. Torrente,
G. Scarlato, N. Bresolin Beta-Enolase Deficiency, a New Metabolic
Myopathy of Distal Glycolysis 47TH Annual meeting of the Italian
Association of Neuropathology, Verbania, May 24-26, 2001. Clinical
Neuropathology, 20: 117, 2001
Fagiolari G., Sciacco M., Chiveri L., Lamperti C., Prelle A., Comi
G.P., Bordoni A., Perini M.P., Scarlato G., Moggio M. Absence of
apoptosis in muscle of PEO patients with mutations in ANT 1 gene.
47TH Annual meeting of the Italian Association of Neuropathology,
Verbania, May 24-26, 2001. Clinical Neuropathology, 20: 120, 2001
D'Adda E., Sciacco M., Comi G.P., Rango M., Prelle A., Lamperti
C., Perini M.P., Bordoni A., Galbiati S., Scarlato G., Moggio M.T8993C
mitochondrial DNA mutation causing both the NARP and MILS phenotype
in the same generation: a morphologic, genetic, and spectroscopic
study.XXXII Congress of the Italian Neurological Society, Rimini
September 29-October 3, 2001.I J of Neurological Sciences, 22,
S71,
2001.
Galbiati S., Perini M.P., Sciacco M., Bordoni A., Lamperti C.,
Comi G.P., Messina S., Moggio M., Bresolin N., Scarlato G. A late
onset
multisystem disorder with muscle mitochondrial DNA depletion. XXXII
Congress of the Italian Neurological Society, Rimini September
29-October 3, 2001. I J of Neurological Sciences, 22, S75, 2001.
Tancredi L, Prelle A, Chiveri L, Comi GP, Sciacco M, Ciscato P,
Serafini M, Fagiolari M, Fortunato F, Scarlato G, Moggio M. Dysferlin
study
in a large population of Italian myopathic patients. XXXII Congress
of the Italian Neurological Society, Rimini September 29-October
3, 2001. Italian J of Neurological Sciences, 22, S120, 2001.
Chiveri L., Fagiolari G., Sciacco M., Lamperti C., Prelle A., Comi
G.P., Bordoni A., Perini M. P., Scarlato G., Moggio M. Lack of
apoptosis in skeletal muscle tissue of patients with Progressive
External Ophthalmoplegia
and mutations in the Adenine Nucleotide Translocator-1 gene. XXXII
Congress of the Italian Neurological Society, Rimini September
29-October 3, 2001. Italian J of Neurological Sciences, 22, S121,
2001.
Galeotti M, Rinaldi R, Gallanti A, De Carolis P. Atypical familial
spinal amyotrophy (muscular Hypertrophy with cramps and myalgias).
XXXII Congress of the Italian Neurological Society, Rimini Palacongressi
September 29- October 3, 2001. Italian J of Neurological Sciences,
Supplement vol.22, September 2001, S164.
Chiveri L., Tancredi L., Comi G.P., Sciacco M., Ciscato P., Serafini
M., Fagiolari G., Porta M., Cavaletti G., Fortunato F., Scarlato
G., Moggio M., Prelle A. Immunological dysferlin screening in a
large population of myopathic patients. First National Meeting
of the Italian
Association of Myology, Camogli, GE October 19-20, 2001. Basic
and Applied Myology 11(1): 55, 2001.
Fagiolari G., Sciacco M., Lamperti C., Prele A., Chiveri L., Comi
G.p:, Bordoni A., Perini M. P., Scarlato G., Moggio M. Absence
of apoptosis in skeletal muscle tissue of PEO patients with mutations
in the Adenine Nucleotide Translocator-1 gene. First National Meeting
of the Italian Association of Myology, Camogli, GE October 19-20,
2001. Basic and Applied Myology 11(1): 57, 2001.
Sciacco M., D'Adda E., Comi G.P., Rango M., Prelle A., Lamperti
C., Perini M.P., bordoni A., Galbiati S., Scarlato G., Moggio M.
Familial
T8993C mutation causing both the NARP and MILS phenotype in the
same generation: a morphologic, genetic, and spectroscopic study.
First
National Meeting of the Italian Association of Myology, Camogli,
GE October 19-20, 2001. Basic and Applied Myology 11(1): 65, 2001.
Del Bo R, Sciacco M, Crimi M, Napoli L, Bresolin N, Scarlato G,
Comi GP. Somatic aging-related mutations in the human mtDNA control
region
from normal muscles: a single-fiber study. Mithocondrion S44, Euromit
5, Venice 2001.
Perini M.P., Sciacco M., Galbiati S., Bordoni A., Lamperti C.,
Comi G.P., Moggio M., Scarpini S., Bresolin N., Scarlato G. Late
onset
multisystem disorder with muscle mitochondrial DNA depletion: a
case report. First National Meeting of the Italian Association
of Myology,
Camogli, GE October 19-20, 2001. Basic and Applied Myology 11(1):
62, 2001.
Immunocitochimica. Gallanti A, Zecca C, Moggio M. III Corso Residenziale
di Perfezionamento in Diagnostica Multidisciplinare delle Malattie
Neuromuscolari, 2001, Messina.
Moggio M, Gallanti A, Prelle A, Sciacco M, Comi GP, Bresolin N,
Fagiolari G, Ciscato P, Tancredi L, Chiveri L, Lamperti C, Zecca
C, Lombardi
F, Bordoni A, Fortunato F, Scarlato G. Bank of DNA and nerve-muscle
tissues. Telethon Convention 2001, Riva del Garda, N.TB07.
Del Bo R., Comi G.P., Crimi M., Sciacco M., Napoli L., Bresolin
N., Scarlato G. Specifc ageing-related mutations in the human mtDNA
control
region from normal muscles: a single-fiber study. 5° Riunione
Scientifica Italian Interdisciplinary Network on Alzheimer Disease.
Roma, 28-30 giugno 2001.
Second AiM National Congress, Torino, 14-15 Giugno 2002
- Cagliani R, Sironi M, Rodolico C, Toscano A, Lucchiari S, Fortunato
F, Prelle A,Tancredi L, Salani S, Sciacco M, Zecca C, Gallanti
A, Moggio M, Comi GP, Bresolin N. A novel splice-site mutation
in a
LGMD-2B family causing activation of a cryptic site and total dysferlin
absence. Basic and Applied Myology 2002, 12:122.
Cagliani R, Gallanti A, Sironi M, Ciscato P, Cardin V, Bonato
S, Galbiati S, Chiveri L, Prelle A, Moggio M, Bresolin N, Comi
GP. A
novel autosomal dominant CAV3 gene mutation results in both RMD
and LGMD in the same family. Basic and Applied Myology 2002, 12:122.
Chiveri
L, Gallanti A, Fratto P, Fortunato F, Bordoni A, Lombardi F, Comi
GP, Prelle A, Scarlato G, Vitali E, Moggio M. Concomitant
involvement of cardiac and skeletal muscle tissues in HIV seropositive
converted patient. Basic and Applied Myology 2002, 12:124.
Lucchiari
S, Fogh I, Prelle A, Parini R, Bresolin N, Melis D, Gatti R, Donati
MA, Scarlato G, Comi GP. Glycogen storage disease
type
III: genotype and phenotype study on a cohort of mediterranean
patients. Basic and Applied Myology 2002, 12:124.
Crimi M, Galbiati
S, Bordoni A, Strazzer S, Sciacco M, Perini MP, Pintucci M, Zecca
C, Biunno I, Moggio M, Bresolin N, Scarlato
G,
Comi GP. The first maternally-inherited mutation of mitochondrial
T-RNA His gene results in retinitis pigmentosa and neuro-sensorial
hypoacusia. Basic and Applied Myology 2002, 12:125.
Sciacco M, Crimi
M, Galbiati S, Bordoni A, Lombardi F, Fagiolari G, Malferrari G,
Moroni I, Lamantea E, Zeviani M, Moggio M, Bresolin
N, Scarlato G, Comi GP. A heteroplasmic A13084T mutation in ND5
mtDNA gene causes early-onset progressive mental retardation and
gait ataxia.
Basic and Applied Myology 2002, 12:137.
Twelfth ENS Meeting, Berlino, 22-26 Giugno 2002
- Chiveri L, Sciacco M, Scarlato G, Prelle A.Herpes simplex encephalopathy
presenting as schizophreniform disorder. ENS 2002, P655, p.166.
Sciacco
M, Prelle A, Tancredi L, Fagiolari G, Comi GP, Ciscato P, Serafini
M, Fortunato F, Zecca C, Gallanti A, Chiveri L, Grimoldi
N, Bresolin N, Scarlato G, Moggio M.Clinical and immunological
correlations
in patients with dysferlin deficiency. ENS 2002, P688, p.174.
Tenth International Congress on Neuromuscolar Diseases, Vancouver,
7-12 Luglio 2002 -Lamperti C, Naini A, Krishna S, Bertini E, Servidei
S, Leach D, Berg MJ, Dubrovsky T, Angelini C, Pegoraro E, De Vivo
DC, Di Mauro S. Cerebellar Ataxia and Coenzyme CoQ10 Deficiency.
Journal of the Neurological Sciences 2002, 199:512.
Sugie K, Yamamoto
A, Murayama K, Oh SJ, Takahashi M, Mora M, Riggs JE, Colomer J,
Iturriaga C, Meloni A, Lamperti C, Saitoh S, Byrne
E, Di Mauro S, Nonaka I, Hirano M, Nishino I. Clinicopathological
features of genetically confirmed Danon disease. Journal of the
Neurological Sciences 2002, 199:512.
Seventh International Congress of the World Muscle Society, Rotterdam,
2-5 Ottobre 2002
- Cagliani R, Gallanti A, Sironi M, Ciscato P, Cardin V, Bonato
S, Galbiati S, Chiveri L, Prelle A, Moggio M, Bresolin N, Comi
GP. Coexistence
of rippling muscle disease and limb girdle muscolar dystrophyin
a family with a novel autosomal dominant CAV3 gene mutation. Neuromuscular
Disorders 2002, 12:722-723.
Crimi M, Galbiati S, Bordoni A, Strazzer
S, Sciacco M, Perini MP, Pintucci M, Zecca C, Biunno I, Moggio
M, Bresolin N, Scarlato
G,
Comi GP. Retinitis pigmentosa and neuro-sensorial hypoacusia caused
by a maternally-inherited mutation of mitochondrial t-RNA His gene.
Neuromuscular Disorders 2002, 12:729.
Chiveri L, Gallanti A, Fratto
P, Fortunato F, Bordoni A, Lombardi F, Comi GP, Prelle A, Scarlato
G, Vitali E, Moggio M. Cardiac and
skeletal muscle tissues involvement in a HIV seropositive converted
patient. Neuromuscular Disorders 2002, 12:772.
XI Telethon Convention, Riva del Garda, 24-26 novembre 2002
-Gallanti A, Prelle A, Sciacco M, Fagiolari G, Ciscato P, Chiveri
, Lamperti C, D'adda E, Zecca C, Napoli L, Serafini M, Bresolin
N, Comi GP, Torrente I, Galbiati S, Locatelli F, Del Bo R, Salani
S,
Lucchiari S, Bordoni A, Fortunato F, Grimoldi N, Tiberio F. Bank
of DNA, nerve and muscle tissue. Comitato Telethon - Scientific
Convention 2002, 404.
The 3th AiM National Congress, Padova & Abano Terme, 12-15
Giugno 2003-Agostino A, Prelle A, Battaglia G, Costa R, Ferrero
I, Tiranti V, Zeviani M. In vivo models of mitochondrial disorders.
Basic and Applied Myology 2003, 13(5):222.
Cagliani R, Sironi
M, Prelle A, Moggio M, Toscano A, Locatelli F, Rodolico C, Tiberio
F, Zecca C, Fortunato F, Grimoldi N, Bresolin N, Comi GP. Molecular
analysis of LGMD-2B and MM patients: identification of novel DYSF
mutations and possible founder effect in the Italian population.
Basic and Applied Myology 2003, 13(5):227.
Lamperti C, Cagliani
R, Ciscato P, Lucchini V, Zecca C, Comi GP, Fagiolari G, Prelle
A, Bresolin N, Tiberio F, Moggio M. Congenital muscular dystrophy
presenting as inflammatory miopathy. Basic and Applied Myology
2003, 13(5):233.
Lamperti, Cappellini A, Fagiolari G, Ciscato
P, Prelle A, Grimoldi N, Fruguglietti ME, Zecca C, Bresolin N,
Moggio M. Alpha dystroglycan glycosylation defects in a case of
congenital muscular dystrophy. Histological and immunocytochemical
studies in skeletal muscle and in autoptic brain tissues. Basic
and Applied Myology 2003, 13(5):234.
Meola G, Rotondo G, Sansone
V, Moggio M, Cardani R, Mancinelli E. Clinical and genetic analyses
of patients with dysferlin deficiency. Basic and Applied Myology
2003, 13(5):236.
Negri T, Brioschi P, Di Blasi C, Prelle A, Ciscato
P, Morandi L, Mora M. Biglycan/decorin expression in muscular dystrophies.
Basic and Applied Myology 2003, 13(5):240.
Sciacco M, Prelle
A, D’Adda E, Ciscato P, Fagiolari G, Jann S, Comi GP, Crimi
M, Di Fonzo A, Bordoni A, Bresolin N, Moggio M. Homoplasmic T3394C
mtDNA mutation and genetically documented CPT deficiency in a patient
with Ragged Red fibers at muscle biopsy and myoglobinuria. Basic
and Applied Myology 2003, 13(5):247.
13th ENS Meeting, Istanbul,
14-18 Giugno 2003-Del Bo R, Baron P, Prelle A, Serafini M, Moggio
M, Di Fonzo A, Bresolin N, Comi GP. Novel missense mutation and
large deletion of GNE gene in two Italian families with autosomal
recessive IBM. Journal of Neurology 2003, 250(Suppl 2):II/41.
Gironi
M, Lamperti C, Nemni R, Moggio M, Guerini F, Ferrante P, Canal
N. Clinical improvement after coenzyme Q10 treatment in a late
onset cerebellar ataxia. Journal of Neurology 2003, 250(Suppl 2):II/107.
D’Adda
E, Lamperti C, Cagliani R, Ciscato P, Fagiolari G, Prelle A, Comi
GP, Bresolin N, Moggio M, D’Adda E. Congenital muscular dystrophy
and muscle inflammation. Journal of Neurology 2003, 250(Suppl 2):II/177-8.
Sciacco
M, Prelle A, Comi GP, Fagiolari G, Ciscato P, D’Adda E, Bordoni
A, Di Fonzo A, Jann S, Crimi M, Bresolin N, Moggio M. Homoplasmic
T3394C mtDNA mutation and genetically documented CPT deficiency
in a patient with myoglobinuria and evidence of Ragged Red fibers
at muscle biopsy. Journal of Neurology 2003, 250(Suppl 2):II/204.
8th
International Congress of the World Muscle Society, Szeged, 3-6
Settembre 2003-Sciacco M, Prelle A, D’Adda E, Fagiolari G,
Ciscato P, Comi GP, Jann S, Di Fonzo A, Crimi M, Bordoni A, Bresolin
N, Moggio M. Genetically documented CPT deficiency homoplasmic
T3394C mtDNA mutation in a patient with myoglobinuria and Ragged
Red fibers at muscle biopsy. Neuromuscular Disorders 2003, 13:641.
Lamperti C, Fagiolari G, Ciscato P, Prelle A, Bresolin N,
Grimoldi N, Moggio M. Brain study in a case of congenital muscular
dystrophy. Neuromuscular Disorders 2003, 13:646.
Lamperti C,
Cagliani R, Ciscato P, Lucchini V, Comi GP, Fagiolari G, Prelle
A, Bresolin N, Moggio M, Parini MB. Congenital muscular dystrophy
presenting as inflammatory myopathy.. Neuromuscular Disorders 2003,
13:656.
Cagliani R, Sironi M, Bardoni A, Fortunato F, Moggio
M, Bresolin N, Comi GP.A complex rearrangement in the DMD gene
determiners new exon inclusion and BMD phenotipe. Neuromuscular
Disorders 2003, 13:625.
Jaeger C, Agius-Galea D, Angelini C,
Bignami F, Cohen O, Di Donato JH, Guitard-Arneau C, Izquierdo M,
Karcagi V, Laurent JC, Lochmuller H, Meznaric M, Moggio M, Mora
M, Posada De La Paz M, Salama F, Verellen-Dumoulin C, Politano
L. Promoting the Eurobiobank network for rare diseases: the work
of the Eurobiobank project (EBB). Neuromuscular Disorders 2003,
13:643.
55th AAN Meeting, Honolulu, 29 Marzo – 5 Aprile
2003:-Gironi M, Lamperti C, Nemni R, Moggio M, Comi GP, Guerini
F, Ferrante P, Canal N. The first case of familial late onset cerebellar
ataxia with hypogonadism, associated with CoQ10 deficiency. Neurology
2003, 60(5) (Suppl 1):A182.
Crimi M, Galbiati S, Bordoni A,
Sciacco M, Bresolin N, Comi GP. Mitochondrial genome-wide screeening
in mitochondrial encephalomyiopathies without common mutation.
Neurology, 2003,60(5) (Suppl 1):A462.
Zeviani M, Agostino A,
Invernizzi F, Fagiolari G, Prelle A, Giavazzi A, Battaglia G, Tiranti
V. High embryonic lethelity and specific Cytochrome C Oxidase Deficiency
in SURF1 knockout mice. Neurology, 2003,60(5) (Suppl 1):A392.
XII
Telethon Convention, Riva del Garda, 23-25 novembre 2003-Sciacco
M, Gallanti A, Prelle A, Fagiolari G, Ciscato P, Serafini M, Livraghi
S, Napoli L, Lamperti C, D’Adda E, Zecca C, Fruguglietti
ME, Lucchini V, Comi GP, Bordoni A, Fortunato F, Torrente Y, Galbiati
S, Locatelli F, Corti S, Del Bo R, Crimi M, Lucchiari S, Salani
S, Grimoldi N, Tiberio F, Silvani E, Bresolin N, Moggio M. Bank
of DNA, cell lines and nerve-muscle-cardiac tissues. Comitato Telethon – Scientific
Convention.
Sciacco M., Del Bo R., Corti S., Donadoni C., Ghezzi S., Locatelli
F., Salani S., Crimi M., Bresolin N., Comi G. Marked mtDNA mutational
load in isolated blood CD34+ cells from healthy subjects. Biochimica
et biophysica acta 2004, 80
Dell’Agnello C., Invernizzi F.,
Tiveron C., Iellem A., Agostino A., Fagiolari G., Prelle A., Zeviani
M. Generation and characterization
of a new loxable knockout model of the Surf1 gene. Biochimica et
biophysica acta 2004, 30
Quinzii C., Kattah A., Naini A., Musumeci
O., Lamperti C., Di Mauro S., Hirano M. Hunting for a gene responsible
for coenzyme Q10 deficiency.
Biochimica et biophysica acta 2004, 75
D’Adda E, Sciacco M,
Fruguglietti E, Lucchini V, Zecca C, Lamperti C, Galbiati S., Tiberio
F, Comi GP, Bresolin N, Moggio M,
Prelle A. Idiopathic hyperckemia: follow-up of a large population
of asymptomatic/oligosymptomatic patients. Journal of Neurology 2004,
251 (Suppl 3):III/83
Del Bo R, Scarlato M, Ghezzi S, Casellato C,
D’Adda E, Prelle
A, Nobile-Orazio E, Bresolin N, Comi GP. Lack of association between
VEGF gene promoter variability and sporadic ALS. Journal of Neurology
2004, 251 (Suppl 3):III/154
Casellato C, Terenghi F, Scarlato M, Cappellari
A, Zecca C, Nobile-Orazio E. POEMS syndrome without overt osteoscleroticmyeloma
improving with
melphalan monotherapy. Journal of Neurology 2004, 251 (Suppl 3):III/166
Del
Bo R, Ghezzi S, Bordoni A, Crimi M, Galbiati S, Sciacco M, Virgilio
R, Lucchini V, Bresolin N, Comi GP. Molecular and cellular ditribution
of mtDNA control region mutations in POLG1/PEO patients. Journal
of Neurology 2004, 251 (Suppl 3):III/173
Guglieri M, Civati F, Cagliani
R, MG D’Angelo, Fortunato F,
Moggio M, Turconi AC, Comi GP, Bresolin N. Brain involvement in the
limb girdle muscular dystrophies. Journal of Neurology 2004, 251
(Suppl 3):III/174
MG D’Angelo, Tonelli A, Redaelli F, Guglieri
M, Fortunato F, Turconi AC, Sciacco M, Comi GP, Bresolin N, Bassi
MT. A novel
mutation in the paraplegin gene in a family with autosomal recessive
HSP. Journal of Neurology 2004, 251 (Suppl 3):III/188
D’Adda
E, Sciacco M, Martinelli F, Fruguglietti E, Lucchini V, Zecca C,
Lamperti C, Tiberio F, Comi GP, Bresolin N, Moggio M,
Prelle A. Idiopathic hyperckemia: follow-up of a large population
of asymptomatic/oligosymptomatic patients. Neurological Sciences
2004, 25 (Suppl):45
Lamperti C, Fagiolari G, Cappellini A, Prelle
A, Lucchini V, Grimoldi N, Bresolin N, Cagliani R, Comi GP, Moggio
M. Congenital muscular
dystrophy: CNS alpha dystroglycan glycosylation defects and brain
malformation. Neurological Sciences 2004, 25 (Suppl):164
Lamperti
C, Fagiolari G, Cappellini A, Prelle A, Lucchini V, Grimoldi N, Bresolin
N, Cagliani R, Comi GP, Moggio M. Brain malformation
in a case of congenital muscular dystrophy: role of alphadystroglycan
glycsylation. Basic and Applied Myology 2004, 14(2):104
D’Adda E, Sciacco M, Tancredi L, Fruguglietti E, Lucchini
V, Zecca C, Lamperti C, Tiberio F, Comi GP, Bresolin N, Moggio M,
Prelle A. Follow-up in a large population of asymptomatic/oligosymptomatic
hypercpkemic patients. Basic and Applied Myology 2004, 14(2):104
Ferrò MT,
Fortunato F, Bordoni A, Sciacco M, Crimi M, Riccardi T, Prelle A,
Comi GP. Abnormally increased respiratory chain enzyme
activities in a patient with recurrent rhabdomyolysis. Basic and
Applied Myology 2004, 14(2):103
Cagliani R, Magri F, Rodolico C, Merlini
L, Sironi M, Prelle A, Toscano A, Zecca C, Aguennouz M, Fortunato
F, Vita G, Bresolin N,
Comi GP. Novel dysferlin gene mutations in a clinically heterogeneous
group of Italian patients. Basic and Applied Myology 2004, 14(2):105
Sciacco M, Prelle A, Fagiolari G, Ciscato P, Serafini M, Livraghi S, Napoli L, Lamperti C, D’Adda E, Zecca C, Fruguglietti ME, Lucchini V, Comi GP, Bordoni A, Fortunato F, Torrente Y, Galbiati S, Locatelli F, Corti S, Del Bo R, Crimi M, Lucchiari S, Salani S, Grimoldi N, Tiberio F, Silvani E, Bresolin N, Moggio M. Bank of DNA, cell lines and nerve-muscle-cardiac tissues. Comitato Telethon – Scientific Convention
Tupler R, Gabellini D, Moggio M, Prelle A, Angeletti B, Zecca C, Bottinelli R, D’Antona G, Green M. A mouse model of facioscapulohumeral muscular dystrophy. Myology 2005, 20
Torrente Y, Belicchi M, Marchesi C, D’Antona G, Pisati F, Gavina M, Cojamagnan F, Tonlorenzi R, Fagiolari G, Lamperti C, Sampaolesi M, Giordano R, Porretti L, Lopa R, Vicentini L, Grimoldi N, Tiberio F, Songa V, Baratta P, Prelle A, Forsenigo L, Comi GP, Biondetti P, Moggio M, Stocchetti N, Priori A, Rebulla P, D’Angelo MG, Bottinelli R, Cossu G, Bresolin N. Autologous transplantation of AC133+ stem cells in duchenne muscular dystrophy: preclinical and clinical evidences. Myology 2005, 44
Lamperti C, Naini A, Lucchini V, Zecca C, Ciscato P, Serafini M, Prelle A, Bresolin N, Di Mauro S, Moggio M. Statin related myopathy and CoQ10 deficency. Myology 2005, 177
Lamperti C., D’Adda E., Marchesi C., Fruguglietti M.E., Zecca C., Lucchini V., Sciacco M., Moggio M., Prelle A. Idiopathic orbital Myositis responsive to IG EV. Basic and Applied Myology 2005, 15(2):106
Lamperti C., Naini A., Lucchini V, Zecca C., Prelle A., Fagiolari G., Bresolin N, Di Mauro S., Moggio M. Statin related Myopathy and CO Q 10 deficiency. Basic and Applied Myology 2005, 15(2):107
Zecca C., Ciscato P., Fagiolari G., Angeletti B., Gabellini D., Prelle A., Bresolin N, Moggio M., Tupler R. Morphological features of FSHD mouse model. Basic and Applied Myology 2005, 15(2):119
Cagliani R., Magri F., Toscano A., Merlini L., Fortunato F., Lamperti C, Rodolico A., Prelle A., Sironi M., Aguennouz M., Ciscato P., Uncini A., Moggio M., Bresolin N., Comi GP. Dysferlinopathies: muscle annexin A1 and A2 expression levels correlate with clinical phenotype in a large group of genetically diagnosed patients. Journal of Neurology 2005, 252 (Suppl 2):II/25
Guglieri M., Magri F., Cagliani R., D’Angelo M.G., Prelle A., Fortunato F., Lucchiari S., Salani S., Del Bo R., Bordoni A., Ghezzi S., Zecca C., Lamperti C, Moggio M., Bresolin N., Comi GP. Autosomal dominant and recessive limb-girdle muscular dystrophies: relative frequency in a large Italian population. Journal of Neurology 2005, 252 (Suppl 2):II/153
Guglieri M., Magri F., D’Angelo M.G., Cagliani R., Bordoni A., Ronchi D., Grezzi S., Del Bo R., Prelle A., Moggio M., Mongini T., Mora M., Turioni AC., Bresolin N., Comi GP. The limb-girdle muscular dystrophies: clinical, biochemical and genetic evaluation of a large Italian population. Neurological Sciences 2005, 26 (Suppl):S231
Ceriani F., Secchi M, Colombo L., Ripolone M., Fruguglietti E. Vasculitic neuropathy mimicking Guillain-Barrè syndrome in chronic hepatitis B infection: a case report.Neurological Sciences 2005, 26 (Suppl):S118
Zecca C., Ciscato P., Fagiolari G., Angeletti B., Gabellini D., Prelle A., Bresolin N, Moggio M., Tupler R. FSHD mouse model: morphological characterization. Neurological Sciences 2005, 26 (Suppl):S10
Lamperti C., Fruguglietti M.E., D’Adda E., Marchesi C., Zecca C., Lucchini V., Sciacco M., Tiberio F, Moggio M., Prelle A. Idiopathic orbital Myositis responsive to IG EV. . Neurological Sciences 2005, 26 (Suppl):S237
Lamperti C., Naini A., Lucchini V, Crugnola V, Prelle A., Fagiolari G., Grimoldi N, Sciacco M, Bresolin N, Di Mauro S., Moggio M. CO Q 10 deficiency in Statin related Myopathy. . Neurological Sciences 2005, 26 (Suppl):S234
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