Sfoglia per Autore
Screening of Twinkle gene in POLG1- and ANT1-negative patients with mitochondrial myopathy and multiple mitochondrial DNA deletions : four new mutations
2006 R. Virgilio, D. Ronchi, A. Bordoni, L. Adobbati, G.M. Hadjigeorgiou, D. Kafetsouli, E. Tsironi, A. Papadimitriou, M. Moggio, N. Bresolin, G.P. Comi
Transplanted ALDH(hi)SSC(lo) neural stem cells generate motor neurons and delay disease progression of nmd mice, an animal model of SMARD1
2006 S.P. Corti, F. Locatelli, D. Papadimitriou, C. Donadoni, R. DEL BO, M. Crimi, A. Bordoni, F.R. Fortunato, S. Strazzer, G. Menozzi, S. Salani, N. Bresolin, G.P. Comi
New mutations in TK2 gene associated with mitochondrial DNA depletion
2006 S. Galbiati, A. Bordoni, D. Papadimitriou, A. Toscano, C. Rodolico, E. Katsarou, M. Sciacco, A. Garufi, A. Prelle, M. Aguennouz, M. Bonsignore, M. Crimi, A. Martinuzzi, N. Bresolin, A. Papadimitriou, G.P. Comi
Neuropathological study of skeletal muscle, heart, liver, and brain in a neonatal form of Andersen Disease associated with a new mutation in GBE1 gene
2006 C. Lamperti, S. Salani, G. Fagiolari, M.E. Fruguglietti, N. Grimoldi, A. Prelle, A. Bordoni, M. Ripolone, V. Crugnola, N. Bresolin, G.P. Comi
Disease natural history in a large group of genetically diagnosed glycogen storage disease type III.
2007 D. Santoro, S. Lucchiari, S. Pagliarani, A. Bordoni, M. Filocamo, M. Di Rocco, C. Rodolico, A. Toscano, D. Melis, R. Parini, S. Paci, M. Giovannini, M. Donati, N. Bresolin, G.P. Comi
Novel SOD1 Q23R mutation associated with muscle mitochondrial dysfunction in familial ALS International Meeting “Mutant SOD1 and familial ALS: from the molecule to man
2007 S. Corti, A. Bordoni, D. Ronchi, D. Santoro, S. Salani, C. Donadoni, C. Lamperti, V. Lucchini, V. Crugnola, M. Moggio, N. Bresolin, G.P. Comi
Novel Q23R SOD1 mutation associated with muscle mitochondrial dysfunction
2007 D. Ronchi, S. Corti, A. Bordoni, D. Santoro, D. Papadimitriou, C. Lamperti, V. Lucchini, M. Magri, M. Guglieri, V. Crugnola, M. Moggio, N. Bresolin, G.P. Comi
Clinical, molecular and protein correlations in a large sample of genetically diagnosed limb girdle muscular dystrophy patients
2007 M. Guglieri, F. Magri, M.G. D’Angelo, A. Prelle, R. Cagliani, B. Parini, F. Fortunato, A. Bordoni, R. Del Bo, S. Ghezzi, S. Lucchiari, S. Salani, C. Zecca, C. Lamperti, D. Ronchi, P. Ciscato, L. Morandi, M. Mora, I. Moroni, C. Rodolico, A. Toscano, M. Moggio, N. Bresolin, G.P. Comi
A yeast system to study human sequence motifs promoting recombination: a role for the CCTCCCT heptamer
2007 R. Cagliani, S. Corti, U. Pozzoli, A. Bordoni, G.P. Comi, N. Bresolin, M. Sironi
A novel mutation in the mitochondrial tRNA LeuCUN gene associated with a mitochondrial myopathy with respiratory impairment
2007 R. Virgilio, A. Bordoni, D. Ronchi, F. Saladino, N. Bresolin, M. Sciacco, G.P. Comi
Familial amyotrophic lateral sclerosis with a novel Q23R mutation in the copper/zinc superoxide dismutase gene associated with muscle mitochondrial dysfunction
2007 S. Corti, A. Bordoni, D. Ronchi, D. Santoro, D. Papadimitriou, C. Lamperti, V. Lucchini, F. Magri, M. Guglieri, V. Crugnola, M. Moggio, N. Bresolin, G.P. Comi
Identification of the infant-type R631C mutation in patients with the benign muscular form of CPT2 deficiency.
2007 O. Musumeci, M. Aguennouz , G.P. Comi , C. Rodolico , M. Autunno , A. Bordoni , S. Baratta ,F. Taroni , G. Vita , A. Toscano
Mitochondrial DNA microarray resequencing in Leber's hereditary optic neuropathy and other mitochondrial encephalomyopathies
2007 F. Saladino, R. Virgilio, I. Cifola, A. Bordoni, S. Galbiati, C. Battaglia, N. Bresolin, G.P. Comi
Cephalalgia, myopathy and familial dementia with CADASIL-like MRI and multiple mtDNA deletions
2008 M. Servida, L. Napoli, D. Ronchi, P. Ciscato, A. Bordoni, A. Prelle, G. Comi, M. Moggio, N. Bresolin, M. Sciacco
mtDNA depletion in a case of fatal infant cytochrome c oxidase deficiency presenting with clinical feature of type 1 spinal muscular atrophy
2008 V. Lucchini, M. Berardinelli, M. Carpanelli, M. Sciacco, A. Bordoni, D. Ronchi, E. Fassone, M. Servida, M. Pluderi, G.P. Comi, M. Moggio, N. Bresolin, C. Lamperti
Cosegregation of novel mitochondrial 16S rRNA gene mutations with the age-associated T414G variant in human cybrids
2008 P. Seibel, C. Di Nunno, C. Kukat, I. Schäfer, R. Del Bo, A. Bordoni, G.P. Comi , A. Schön, F. Capuano, D. Latorre, G. Villani
Analisi molecolare del gene GAA e caratterizzazione di due nuove mutazioni di splicing in pazienti con deficit di maltasi acida.
2008 D. Ronchi, G. Remiche, A. Bordoni, E. Fassone, C. Montrasio, F. Magri, G.P. Comi, M. Nizzardo
Stop codons, duplicazioni e delezioni: caratterizzazione genetica e follow-up clinico in una coorte di 201 pazienti affetti da distrofia Muscolare di Duchenne
2008 F. Magri, R. Virgilio, R. Del Bo, S. Ghezzi, S. Tedeschi, M.G. D’Angelo, D. Coviello, A. Prelle, A. Bordoni, M. Sciacco, C. Lamperti, S. Corti, Y. Torrente, M. Moggio, N. Bresolin, G.P. Comi
Adult form type II Glycogen Storage Disease in a Northern Italy population :_phenotype, charatcerization, early diagnosis and prognostic determinants
2008 G. Remiche, D. Ronchi, C. Lamperti, M.G. D'Angelo, A. Bordoni, C. Montrasio, V. Crugnola, F. Magri, M. Moggio, N. Bresolin, G.P. Comi
Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients
2008 M. Guglieri, F. Magri, M.G. D’Angelo, A. Prelle, L. Morandi, C. Rodolico, R. Cagliani, M. Mora, F. Fortunato, A. Bordoni, R. Del Bo, S. Ghezzi, S. Pagliarani, S. Lucchiari, S. Salani, C. Zecca, C. Lamperti, D. Ronchi, M. Aguennouz, P. Ciscato, C. Di Blasi, A. Ruggieri, I. Moroni, A. Turconi, M. Moggio, A. Toscano, N. Bresolin, G.P. Comi
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