Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 18

1.

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
2.

Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains.

Harris E, Burki U, Marini-Bettolo C, Neri M, Scotton C, Hudson J, Bertoli M, Evangelista T, Vroling B, Polvikoski T, Roberts M, Töpf A, Bushby K, McArthur D, Lochmüller H, Ferlini A, Straub V, Barresi R.

Neuromuscul Disord. 2017 Sep;27(9):861-872. doi: 10.1016/j.nmd.2017.05.002. Epub 2017 May 4.

PMID:
28624464
3.

Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia.

Nasca A, Scotton C, Zaharieva I, Neri M, Selvatici R, Magnusson OT, Gal A, Weaver D, Rossi R, Armaroli A, Pane M, Phadke R, Sarkozy A, Muntoni F, Hughes I, Cecconi A, Hajnóczky G, Donati A, Mercuri E, Zeviani M, Ferlini A, Ghezzi D.

Hum Mutat. 2017 Aug;38(8):970-977. doi: 10.1002/humu.23262. Epub 2017 Jun 6.

4.

Duchenne Muscular Dystrophy Myogenic Cells from Urine-Derived Stem Cells Recapitulate the Dystrophin Genotype and Phenotype.

Falzarano MS, D'Amario D, Siracusano A, Massetti M, Amodeo A, La Neve F, Maroni CR, Mercuri E, Osman H, Scotton C, Armaroli A, Rossi R, Selvatici R, Crea F, Ferlini A.

Hum Gene Ther. 2016 Oct;27(10):772-783. doi: 10.1089/hum.2016.079.

PMID:
27530229
5.

The Popeye Domain Containing Genes and their Function in Striated Muscle.

Schindler RF, Scotton C, French V, Ferlini A, Brand T.

J Cardiovasc Dev Dis. 2016 Jun 15;3(2):22.

6.

The Popeye Domain Containing Genes and Their Function in Striated Muscle.

Schindler RFR, Scotton C, French V, Ferlini A, Brand T.

J Cardiovasc Dev Dis. 2016 Jun 15;3(2). pii: E22. doi: 10.3390/jcdd3020022. Review.

7.

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.

8.

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.

9.

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.

10.

Paternal germline mosaicism in collagen VI related myopathies.

Armaroli A, Trabanelli C, Scotton C, Venturoli A, Selvatici R, Brisca G, Merlini L, Bruno C, Ferlini A, Gualandi F.

Eur J Paediatr Neurol. 2015 Sep;19(5):533-6. doi: 10.1016/j.ejpn.2015.04.002. Epub 2015 Apr 30.

PMID:
25978941
11.

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.

12.

Muscle proteomics reveals novel insights into the pathophysiological mechanisms of collagen VI myopathies.

De Palma S, Capitanio D, Vasso M, Braghetta P, Scotton C, Bonaldo P, Lochmüller H, Muntoni F, Ferlini A, Gelfi C.

J Proteome Res. 2014 Nov 7;13(11):5022-30. doi: 10.1021/pr500675e. Epub 2014 Sep 24.

PMID:
25211533
13.

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
14.

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
15.

SERCA1 protein expression in muscle of patients with Brody disease and Brody syndrome and in cultured human muscle fibers.

Guglielmi V, Vattemi G, Gualandi F, Voermans NC, Marini M, Scotton C, Pegoraro E, Oosterhof A, Kósa M, Zádor E, Valente EM, De Grandis D, Neri M, Codemo V, Novelli A, van Kuppevelt TH, Dallapiccola B, van Engelen BG, Ferlini A, Tomelleri G.

Mol Genet Metab. 2013 Sep-Oct;110(1-2):162-9. doi: 10.1016/j.ymgme.2013.07.015. Epub 2013 Jul 20.

PMID:
23911890
16.

The DMD locus harbours multiple long non-coding RNAs which orchestrate and control transcription of muscle dystrophin mRNA isoforms.

Bovolenta M, Erriquez D, Valli E, Brioschi S, Scotton C, Neri M, Falzarano MS, Gherardi S, Fabris M, Rimessi P, Gualandi F, Perini G, Ferlini A.

PLoS One. 2012;7(9):e45328. doi: 10.1371/journal.pone.0045328. Epub 2012 Sep 21.

17.

Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype.

Brioschi S, Gualandi F, Scotton C, Armaroli A, Bovolenta M, Falzarano MS, Sabatelli P, Selvatici R, D'Amico A, Pane M, Ricci G, Siciliano G, Tedeschi S, Pini A, Vercelli L, De Grandis D, Mercuri E, Bertini E, Merlini L, Mongini T, Ferlini A.

BMC Med Genet. 2012 Aug 16;13:73.

18.

Rapid, comprehensive analysis of the dystrophin transcript by a custom micro-fluidic exome array.

Bovolenta M, Scotton C, Falzarano MS, Gualandi F, Ferlini A.

Hum Mutat. 2012 Mar;33(3):572-81. doi: 10.1002/humu.22017. Epub 2012 Jan 25.

PMID:
22223181

Supplemental Content

Loading ...
Support Center