Heteroplasmy of mouse mtDNA is genetically unstable and results in altered behavior and cognition MS Sharpley, C Marciniak, K Eckel-Mahan, M McManus, M Crimi, ... Cell 151 (2), 333-343, 2012 | 394 | 2012 |
Genetic variation in the interleukin‐28B gene is not associated with fibrosis progression in patients with chronic hepatitis C and known date of infection F Marabita, A Aghemo, S De Nicola, MG Rumi, C Cheroni, R Scavelli, ... Hepatology 54 (4), 1127-1134, 2011 | 181 | 2011 |
Vascular endothelial growth factor gene variability is associated with increased risk for AD R Del Bo, M Scarlato, S Ghezzi, F Martinelli Boneschi, C Fenoglio, ... Annals of neurology 57 (3), 373-380, 2005 | 153 | 2005 |
Retinoic acid‐induced neuritogenesis of human neuroblastoma SH‐SY5Y cells is ERK independent and PKC dependent M Miloso, D Villa, M Crimi, S Galbiati, E Donzelli, G Nicolini, G Tredici Journal of neuroscience research 75 (2), 241-252, 2004 | 125 | 2004 |
Transplanted ALDHhiSSClo neural stem cells generate motor neurons and delay disease progression of nmd mice, an animal model of SMARD1 S Corti, F Locatelli, D Papadimitriou, C Donadoni, R Del Bo, M Crimi, ... Human molecular genetics 15 (2), 167-187, 2006 | 120 | 2006 |
POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions AD Fonzo, A Bordoni, M Crimi, G Sara, RD Bo, N Bresolin, GP Comi Human mutation 22 (6), 498-499, 2003 | 117 | 2003 |
A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome M Crimi, S Galbiati, I Moroni, A Bordoni, MP Perini, E Lamantea, ... Neurology 60 (11), 1857-1861, 2003 | 94 | 2003 |
Remarkable infidelity of polymerase γA associated with mutations in POLG1 exonuclease domain R Del Bo, A Bordoni, M Sciacco, A Di Fonzo, S Galbiati, M Crimi, ... Neurology 61 (7), 903-908, 2003 | 86 | 2003 |
New mutations in TK2 gene associated with mitochondrial DNA depletion S Galbiati, A Bordoni, D Papadimitriou, A Toscano, C Rodolico, ... Pediatric neurology 34 (3), 177-185, 2006 | 83 | 2006 |
A new mitochondrial DNA mutation in ND3 gene causing severe Leigh syndrome with early lethality M Crimi, A Papadimitriou, S Galbiati, P Palamidou, F Fortunato, A Bordoni, ... Pediatric research 55 (5), 842-846, 2004 | 80 | 2004 |
The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseases Eur J Hum Genet, 2014 | 79* | 2014 |
Skeletal muscle gene expression profiling in mitochondrial disorders M Crimi, A Bordoni, G Menozzi, L Riva, F Fortunate, S Galbiati, R Del Bo, ... The FASEB journal 19 (7), 1-30, 2005 | 63 | 2005 |
Evidence and age-related distribution of mtDNA D-loop point mutations in skeletal muscle from healthy subjects and mitochondrial patients R Del Bo, A Bordoni, FM Boneschi, M Crimi, M Sciacco, N Bresolin, ... Journal of the neurological sciences 202 (1-2), 85-91, 2002 | 61 | 2002 |
The mitochondrial genome, a growing interest inside an organelle M Crimi, R Rigolio International journal of nanomedicine 3 (1), 51-57, 2008 | 60 | 2008 |
High mutational burden in the mtDNA control region from aged muscles: a single-fiber study R Del Bo, M Crimi, M Sciacco, G Malferrari, A Bordoni, L Napoli, A Prelle, ... Neurobiology of aging 24 (6), 829-838, 2003 | 48 | 2003 |
Dual role of anti-TNF therapy: enhancement of TCR-mediated T cell activation in peripheral blood and inhibition of inflammation in target tissues F Bosè, L Raeli, C Garutti, E Frigerio, A Cozzi, M Crimi, F Caprioli, ... Clinical immunology 139 (2), 164-176, 2011 | 46 | 2011 |
The 129 codon polymorphism of the prion protein gene influences earlier cognitive performance in Down syndrome subjects R Del Bo, GP Comi, R Giorda, M Crimi, F Locatelli, F Martinelli-Boneschi, ... Journal of neurology 250, 688-692, 2003 | 41 | 2003 |
Familial mtDNA T8993C transition causing both the NARP and the MILS phenotype in the same generation: A morphological, genetic and spectroscopic study M Sciacco, A Prelle, E D’Adda, C Lamperti, A Bordoni, M Rango, M Crimi, ... Journal of neurology 250, 1498-1500, 2003 | 37 | 2003 |
A mitochondrial tRNAHis gene mutation causing pigmentary retinopathy and neurosensorial deafness M Crimi, S Galbiati, MP Perini, A Bordoni, G Malferrari, M Sciacco, ... Neurology 60 (7), 1200-1203, 2003 | 34 | 2003 |
The challenge for a European network of biobanks for rare diseases taken up by RD-Connect L Monaco, M Crimi, CM Wang Pathobiology 81 (5-6), 231-236, 2015 | 32 | 2015 |