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Items: 1 to 20 of 25

1.

Congenital heart defects in molecularly proven Kabuki syndrome patients.

Digilio MC, Gnazzo M, Lepri F, Dentici ML, Pisaneschi E, Baban A, Passarelli C, Capolino R, Angioni A, Novelli A, Marino B, Dallapiccola B.

Am J Med Genet A. 2017 Nov;173(11):2912-2922. doi: 10.1002/ajmg.a.38417. Epub 2017 Sep 8.

PMID:
28884922
2.

Transcriptional and epigenetic analyses of the DMD locus reveal novel cis‑acting DNA elements that govern muscle dystrophin expression.

Gherardi S, Bovolenta M, Passarelli C, Falzarano MS, Pigini P, Scotton C, Neri M, Armaroli A, Osman H, Selvatici R, Gualandi F, Recchia A, Mora M, Bernasconi P, Maggi L, Morandi L, Ferlini A, Perini G.

Biochim Biophys Acta Gene Regul Mech. 2017 Nov;1860(11):1138-1147. doi: 10.1016/j.bbagrm.2017.08.010. Epub 2017 Sep 1.

PMID:
28867298
3.

Haematological involvement associated with a mild autoinflammatory phenotype, in two patients carrying the E250K mutation of PSTPIP1.

Belelli E, Passarelli C, Pardeo M, Holzinger D, De Benedetti F, Insalaco A.

Clin Exp Rheumatol. 2017 Nov-Dec;35 Suppl 108(6):113-115. Epub 2017 Jun 19.

PMID:
28628471
4.

ADA2 deficiency (DADA2) as an unrecognised cause of early onset polyarteritis nodosa and stroke: a multicentre national study.

Caorsi R, Penco F, Grossi A, Insalaco A, Omenetti A, Alessio M, Conti G, Marchetti F, Picco P, Tommasini A, Martino S, Malattia C, Gallizi R, Podda RA, Salis A, Falcini F, Schena F, Garbarino F, Morreale A, Pardeo M, Ventrici C, Passarelli C, Zhou Q, Severino M, Gandolfo C, Damonte G, Martini A, Ravelli A, Aksentijevich I, Ceccherini I, Gattorno M.

Ann Rheum Dis. 2017 Oct;76(10):1648-1656. doi: 10.1136/annrheumdis-2016-210802. Epub 2017 May 18.

PMID:
28522451
5.

Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy.

Scotton C, Bovolenta M, Schwartz E, Falzarano MS, Martoni E, Passarelli C, Armaroli A, Osman H, Rodolico C, Messina S, Pegoraro E, D'Amico A, Bertini E, Gualandi F, Neri M, Selvatici R, Boffi P, Maioli MA, Lochmüller H, Straub V, Bushby K, Castrignanò T, Pesole G, Sabatelli P, Merlini L, Braghetta P, Bonaldo P, Bernardi P, Foley R, Cirak S, Zaharieva I, Muntoni F, Capitanio D, Gelfi C, Kotelnikova E, Yuryev A, Lebowitz M, Zhang X, Hodge BA, Esser KA, Ferlini A.

J Cell Sci. 2016 Apr 15;129(8):1671-84. doi: 10.1242/jcs.175927. Epub 2016 Mar 4.

6.

POPDC1(S201F) causes muscular dystrophy and arrhythmia by affecting protein trafficking.

Schindler RF, Scotton C, Zhang J, Passarelli C, Ortiz-Bonnin B, Simrick S, Schwerte T, Poon KL, Fang M, Rinné S, Froese A, Nikolaev VO, Grunert C, Müller T, Tasca G, Sarathchandra P, Drago F, Dallapiccola B, Rapezzi C, Arbustini E, Di Raimo FR, Neri M, Selvatici R, Gualandi F, Fattori F, Pietrangelo A, Li W, Jiang H, Xu X, Bertini E, Decher N, Wang J, Brand T, Ferlini A.

J Clin Invest. 2016 Jan;126(1):239-53. doi: 10.1172/JCI79562. Epub 2015 Dec 7.

7.

Duchenne Muscular Dystrophy: From Diagnosis to Therapy.

Falzarano MS, Scotton C, Passarelli C, Ferlini A.

Molecules. 2015 Oct 7;20(10):18168-84. doi: 10.3390/molecules201018168. Review.

8.

Corrigendum: Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice.

Wein N, Vulin A, Falzarano MS, Szigyarto CA, Maiti B, Findlay A, Heller KN, Uhlén M, Bakthavachalu B, Messina S, Vita G, Passarelli C, Brioschi S, Bovolenta M, Neri M, Gualandi F, Wilton SD, Rodino-Klapac LR, Yang L, Dunn DM, Schoenberg DR, Weiss RB, Howard MT, Ferlini A, Flanigan KM.

Nat Med. 2015 May;21(5):537. doi: 10.1038/nm0515-537c. No abstract available.

PMID:
25951531
9.

Corrigendum: Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice.

Wein N, Vulin A, Falzarano MS, Szigyarto CA, Maiti B, Findlay A, Heller KN, Uhlén M, Bakthavachalu B, Messina S, Vita G, Passarelli C, Gualandi F, Wilton SD, Rodino-Klapac LR, Yang L, Dunn DM, Schoenberg DR, Weiss RB, Howard MT, Ferlini A, Flanigan KM.

Nat Med. 2015 Apr;21(4):414. doi: 10.1038/nm0415-414b. No abstract available.

PMID:
25849273
10.

Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variants.

van den Bergen JC, Hiller M, Böhringer S, Vijfhuizen L, Ginjaar HB, Chaouch A, Bushby K, Straub V, Scoto M, Cirak S, Humbertclaude V, Claustres M, Scotton C, Passarelli C, Lochmüller H, Muntoni F, Tuffery-Giraud S, Ferlini A, Aartsma-Rus AM, Verschuuren JJ, 't Hoen PA, Spitali P.

J Neurol Neurosurg Psychiatry. 2015 Oct;86(10):1060-5. doi: 10.1136/jnnp-2014-308409. Epub 2014 Dec 4.

11.

Biodistribution studies of polymeric nanoparticles for drug delivery in mice.

Falzarano MS, Bassi E, Passarelli C, Braghetta P, Ferlini A.

Hum Gene Ther. 2014 Nov;25(11):927-8. doi: 10.1089/hum.2014.073. Epub 2014 Sep 22.

12.

Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice.

Wein N, Vulin A, Falzarano MS, Szigyarto CA, Maiti B, Findlay A, Heller KN, Uhlén M, Bakthavachalu B, Messina S, Vita G, Passarelli C, Brioschi S, Bovolenta M, Neri M, Gualandi F, Wilton SD, Rodino-Klapac LR, Yang L, Dunn DM, Schoenberg DR, Weiss RB, Howard MT, Ferlini A, Flanigan KM.

Nat Med. 2014 Sep;20(9):992-1000. doi: 10.1038/nm.3628. Epub 2014 Aug 10. Erratum in: Nat Med. 2015 Apr;21(4):414. Erratum in: Nat Med. 2015 May;21(5):537. Brioschi, Simona [added]; Bovolenta, Matteo [added]; Neri, Marcella [added].

13.

Nanoparticle delivery of antisense oligonucleotides and their application in the exon skipping strategy for Duchenne muscular dystrophy.

Falzarano MS, Passarelli C, Ferlini A.

Nucleic Acid Ther. 2014 Feb;24(1):87-100. doi: 10.1089/nat.2013.0450. Review.

14.

Biodistribution and molecular studies on orally administered nanoparticle-AON complexes encapsulated with alginate aiming at inducing dystrophin rescue in mdx mice.

Falzarano MS, Passarelli C, Bassi E, Fabris M, Perrone D, Sabatelli P, Maraldi NM, Donà S, Selvatici R, Bonaldo P, Sparnacci K, Laus M, Braghetta P, Rimessi P, Ferlini A.

Biomed Res Int. 2013;2013:527418. doi: 10.1155/2013/527418. Epub 2013 Dec 12.

15.

Biomarkers in rare neuromuscular diseases.

Scotton C, Passarelli C, Neri M, Ferlini A.

Exp Cell Res. 2014 Jul 1;325(1):44-9. doi: 10.1016/j.yexcr.2013.12.020. Epub 2013 Dec 31. Review.

PMID:
24389168
16.

Exome sequencing in a family with intellectual disability, early onset spasticity, and cerebellar atrophy detects a novel mutation in EXOSC3.

Zanni G, Scotton C, Passarelli C, Fang M, Barresi S, Dallapiccola B, Wu B, Gualandi F, Ferlini A, Bertini E, Wei W.

Neurogenetics. 2013 Nov;14(3-4):247-50. doi: 10.1007/s10048-013-0371-z. Epub 2013 Aug 24.

PMID:
23975261
17.

DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy.

Barone R, Aiello C, Race V, Morava E, Foulquier F, Riemersma M, Passarelli C, Concolino D, Carella M, Santorelli F, Vleugels W, Mercuri E, Garozzo D, Sturiale L, Messina S, Jaeken J, Fiumara A, Wevers RA, Bertini E, Matthijs G, Lefeber DJ.

Ann Neurol. 2012 Oct;72(4):550-8. doi: 10.1002/ana.23632.

PMID:
23109149
18.

Antisense-induced messenger depletion corrects a COL6A2 dominant mutation in Ullrich myopathy.

Gualandi F, Manzati E, Sabatelli P, Passarelli C, Bovolenta M, Pellegrini C, Perrone D, Squarzoni S, Pegoraro E, Bonaldo P, Ferlini A.

Hum Gene Ther. 2012 Dec;23(12):1313-8. doi: 10.1089/hum.2012.109. Epub 2012 Nov 6.

19.

Protein glutathionylation in cellular compartments: a constitutive redox signal.

Petrini S, Passarelli C, Pastore A, Tozzi G, Coccetti M, Colucci M, Bianchi M, Carrozzo R, Bertini E, Piemonte F.

Redox Rep. 2012;17(2):63-71. doi: 10.1179/1351000212Y.0000000009.

PMID:
22564349
20.

All glutathione forms are depleted in blood of obese and type 1 diabetic children.

Pastore A, Ciampalini P, Tozzi G, Pecorelli L, Passarelli C, Bertini E, Piemonte F.

Pediatr Diabetes. 2012 May;13(3):272-7. doi: 10.1111/j.1399-5448.2011.00806.x. Epub 2011 Sep 13.

PMID:
21910809

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