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Semplice – (U.O.S.) Diagnostica delle Malattie Neuromuscolari » Publications
Original papers (2000-2007)
Prelle A., Sciacco M., Comi G.P., Messina M., Carpo M., Ciscato P., Nobile-Orazio E., Fortunato F., Mora G:, Bignotti V., Fagiolari G., Moggio M., Scarlato G. A sporadic, atypical case of desminopathy: morphological and immunological characterization. Clinical Neuropathology, 19 (4):208-212; 2000.
Musumeci O, Andreu AL, Shanske S, Bresolin N, Comi GP, Rothstein R, Schon EA, DiMauro S. Intragenic Inversion of mtDNA: A New Type of Pathogenic Mutation in a Patient with Mitochondrial Myopathy. Am J Hum Genet, 66:1900-1904, 2000
Torrente Y, D'Angelo M.G., Li Z., Del Bo R, Corti S., Mericskay M., DeLiso A., Fassati A, Paulin D., Comi G.P., Scarlato G., Bresolin N., Transplacental injection of somite-derived cells in mdx mouse embryos for the correction of dystrophin deficiency. Human Molecular Genetics, 9: 1843-1852; 2000.
Kaukonen J, Juselius JK, Tiranti V, Kyttala A, Zeviani M, Comi GP, Keranen S, Peltonen L, Suomalainen A. Role of adenine nucleotide translocator 1 in mtDNA maintenance. Science, 289: 782-785, 2000.
Synergistic effect of beta-amyloid protein and interferon gamma on nitric ixide production by C2C12 muscle cells. P Baron. D Galimberti, L Meda, E Prat, E Scarpini, G Conti, M Moggio, A Prelle, G Scarlato. Brain 2000, 123: 374-9
Severe polyneuropathy in a patient with Churg-Strauss syndrome. Bazzi P, Tancredi L, Messina S, Sciacco m, Livraghi S, Vanoli M, Scrapini E, Prelle A, Scarlato G, Moggio M. Journal of the Peripheral nervous System, 5:1-5 2000
A sporadic, atypical case of desminopathy: Morphological and Immunological characterization. Prelle A, Sciacco M, Comi GP, Messina S, Carpo M, Ciscato P, Nobile Orazio E, Fortunato F, Mora G, Bignotti V, Fagiolari G, Moggio M, Scarlato G. Clin Neuropathol 2000, 19:208-12.
Sciacco M. Fagiolari G., Bazzi P., Messina M., Lamperti C., Napoli L., Prelle A., Comi G.P., Bresolin N., Chiveri L., Scarlato G. Lack of apoptosis in mitochondrial encephalomyopathies. Neurology, 56:1070-1074, 2001.
Sciacco M., Prelle A., Comi G.P., Napoli L., Battistel A., Bresolin N., Tancredi L., Lamperti C., Bordoni A., Fagiolari G., Chiveri L., Perini M.P., Forunato F., Adobbati L., Messina S., Toscano A., Martinelli-Boneschi F., Papadimitriuou A., Scarlato G., Moggio M. Retrospective study of a large population of patients affected with mitochondrial disorders: clinical, morphological and molecular genetic evaluation.Journal of Neurology, 248: 778-788, 2001.
Del Bo R, Torrente Y; Corti S, D'Angelo M.G, G.P. Comi, G. Fagiolari, S. Salani, A. Cova, F. Pisati, M.Moggio, C Ausenda, G. Scarlato, N. Bresolin. In vitro and in vivo tetracycline-controlled myogenic conversion of NIH-3T3 cells: evidence of programmed cell death after muscle cell transplantation Cell Transplantation, in press.
R. Cagliani, G.P. Comi, L. Tancredi, M. Sironi, F. Fortunato, R. Giorda, A. Bardoni, M. Moggio, A. Prelle, N. Bresolin, G. Scarlato Primary Beta-Sarcoglycanopathy manifesting as recurrent exercise-induced myoglobinuria. Neuromuscular Disorders, 11:389-394, 2001.
Sironi M., Bardoni A., Felisari G., Cagliani R., Robotti M., Comi G.P., Moggio M., Bresolin N.Transcriptional activation of the non muscle full-length dystrophin isoforms in Duchenne Muscular Dystrophy skeletal muscle. Journal of the Neurological Sciences, 186: 51-57, 2001.
Rango M, Bozzali M, Prelle A, Scarlato G, Bresolin N. Brain activation in normal subjects and in patients affected by mitochondrial disease without clinical central nervous system involvement: a phosphorus magnetic resonance spectroscopy study. Journal of Cerebral Blood Flow and Metabolism, Jan;21(1):85-91, 2001.
Comi G.P, Fortunato F., Lucchiari S., Bordoni A.,. Prelle A., Jann S., Keller A., Ciscato P., Galbiati S., Chiveri L., Torrente Y., Scarlato G., Bresolin N. Beta-enolase deficiency, a new metabolic myopathy of distal glycolysis. Annals of Neurology, 50:202-207, 2001.
Napoli L. , Bordoni A., Zeviani M., Hadjigeorgiou G.M., Sciacco M., Tiranti V., Terentiou A, Moggio M., Papadimitriou A., Scarlato G., Comi G.P. A novel missense Adenine Nucleotide Translocator-1 gene mutation in a Greek adPEO family. Neurology, Dec. 2001, Vol. 57: 2295-2298.
Priori A, Cinnante C, Pesenti A, Gallanti A, Cappellari A, Scarlato G, Barbieri S. Decreased EMG inhibition following electrical stimulation over muscle tendons in myopathies. Clinical Neurophysiology 2001 Oct;112(10): 1931-5.
Prelle A, Tancredi L, Sciacco M, Chiveri L, Comi GP, Martinelli-Boneschi FM, Bagnardi V, Battistel A, Ciscato P, Bordoni A, Fortunato F, Bazzi P, Strazzer S, Bresolin N, Scarlato G and Moggio M. Retrospective study of a large population of patients effeceted with asymptomatic or paucisymptomatic hyperCKemia. Journal of Neurology 2002,249:305-311.
Lucchiari S, Fogh I, Prelle A, Parini R, Bresolin N, Melis D, Fiori L, Scarlato G, Comi GP. Clinical and genetic variability of glycogen storage disease type IIIa: seven novel AGL gene mutations in the Mediterranean area. Am J Med Genet 2002, 109:183-190.
Messina S, Fagiolari G, Lamperti C, Cavaletti G, Prelle A, Scarlato G, Moggio M, Sciacco M. Women with pregnancy-related polymiositis and high serum CK levels in the newborn. Neurology 2002, 58:482-484.
Fagiolari G, Sciacco M, Chiveri L, Lamperti C, Comi GP, Scarlato G, Moggio M, Prelle A. Lack of apoptosis in muscle tissue of PEO patients with mutations in the Adenine Nucleotide Transocator 1 gene. Muscle & Nerve 2002, 26:265-269.
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. Neurology 2002 58:1773-1778.
Crimi M, Sciacco M, Galbiati S, Bordoni A, Malferrari G, Del Bo R, Biunno I, Bresolin N and Comi GP. A collection of 33 Novel Human mtDNA Homoplasmic Variants. Human Mutation 2002, 1-5.
Del Bo R, Bordoni A, Martinelli Boneschi F, Crimi M, Sciacco M, Bresolin N, Scarlato G and Comi GP. Evidence and age-related distribution of mtDNA D-loop mutations in skeletal muscle from healty subjects and mitochondrial patients. Journal of the Neurological Sciences 2002 202:85-98.
Corti S, Strazzer S, Del Bo R, Salani S, Bossolasco P, Fortunato F, Locatelli F, Soligo D, Moggio M, Ciscato P, Prelle A, Borsotti C, Bresolin N, Scarlato G, Comi GP. A subpopulation of murine bone marrow cells fully differentiates along the myogenic pathway and participates in muscle repair in the mdx dystrophic mouse. Exp Cell Res 2002: 277: 74-85.
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), 2003, 105(6): 537-42. Epub 2003 Mar 04.
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, 2003, 250: 1498-500.
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, 2003,60:1206-8.
Chiveri L, Sciacco M, Prelle A. Schizophreniform disorder with cerebrospinal fluid PCR positivity for herpes simplex virus type 1. Eur Neurol, 2003, 50:182-3.
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, 2003, 12:399-413.
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, 2003, 13:13-6.
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, 2003,13:788-95.
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, 2003, 61:1513-1519.
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, 2003, 60:1857-61.
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, 2003,60:1200-3.
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, 2003, 11: 896-898.
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, 2003, 24: 829-38.
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, 2003, 28: 113-7.
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, 2003,61: 903-908.
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, 2003,60: 1445-7.
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 2003; 40:e132.
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, 2004 [Mar. 9];62(5):818-20
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. 2004 Jun;115(1):13-8. Epub 2004 Apr 30.
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 (2004), 279-283.
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 Sep.
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. 2005 Aug 10.
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. 2005 Nov;62(11):1709-1712
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. 2005 Dec 11 - On-line.
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. 2005 Nov;128 (Pt 11): 2546-55
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. 2005 Dec 15;239 (1): 21-4
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 2005;25:114-119
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 2006 Apr 15;243(1-2):47-51. Epub 2006 Jan 4
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. 2006 Mar 14;66(5):752-4.
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. Nov 11 11,253;1399-1403.
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. 2006 Jul;27(7):718.
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. 2006 May;63(5):750-5.
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. 2006 Mar;34(3):177-85.
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. 2006 Nov;27(5):303-11.
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. 2006 Feb 23;439(7079):973-7.
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. 2007 Dec; 28(12):1430-8
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. 2007 Jul;1767(7):913-9.
Beghi E, Millul A, Micheli A, Vitelli E, Logroscino G; SLALOM Group (Prelle A). Incidence of ALS in Lombardy, Italy. Neurology. 2007 Jan 9;68(2):141-5
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. 2007 Sep 22; [Epub ahead of print]
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. 2007 Feb 15; 16(4):431-44
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. 2007 Oct 23;104(43):17016-21
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. 2007 Sep 19; [Epub ahead of print]
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. 2007 Nov 9; [Epub ahead of print]
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. 2007 Nov;78(11):1263-6.
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. 2007 Mar;55(4):425-38
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. 2007 Feb;17(2):148-56
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. 2007;16(6):563-77
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. 2007 May;78(5):480-4
Congress communications (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.
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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