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Results: 1 to 20 of 43

1.

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. 2014 Dec 4. pii: jnnp-2014-308409. doi: 10.1136/jnnp-2014-308409. [Epub ahead of print]

2.

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
3.

Intrinsic defence capacity and therapeutic potential of natriuretic peptides in pulmonary hypertension associated with lung fibrosis.

Baliga RS, Scotton CJ, Trinder SL, Chambers RC, MacAllister RJ, Hobbs AJ.

Br J Pharmacol. 2014 Jul;171(14):3463-75. doi: 10.1111/bph.12694.

4.

Biomarkers in rare diseases.

Ferlini A, Scotton C, Novelli G.

Public Health Genomics. 2013;16(6):313-21. doi: 10.1159/000355938. Epub 2014 Feb 3. Review.

PMID:
24503592
5.

Proteinase activated receptor 1 mediated fibrosis in a mouse model of liver injury: a role for bone marrow derived macrophages.

Kallis YN, Scotton CJ, Mackinnon AC, Goldin RD, Wright NA, Iredale JP, Chambers RC, Forbes SJ.

PLoS One. 2014 Jan 27;9(1):e86241. doi: 10.1371/journal.pone.0086241. eCollection 2014.

6.

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
7.

Evidence for a functional thymic stromal lymphopoietin signaling axis in fibrotic lung disease.

Datta A, Alexander R, Sulikowski MG, Nicholson AG, Maher TM, Scotton CJ, Chambers RC.

J Immunol. 2013 Nov 1;191(9):4867-79. doi: 10.4049/jimmunol.1300588. Epub 2013 Sep 30.

8.

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
9.

Proteinase-activated receptor-1, CCL2, and CCL7 regulate acute neutrophilic lung inflammation.

Mercer PF, Williams AE, Scotton CJ, José RJ, Sulikowski M, Moffatt JD, Murray LA, Chambers RC.

Am J Respir Cell Mol Biol. 2014 Jan;50(1):144-57. doi: 10.1165/rcmb.2013-0142OC.

10.

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
11.

Ratings can improve standards.

Scotton C.

Nurs Older People. 2013 Mar;25(2):8. No abstract available.

PMID:
23581216
12.

A patient with limb girdle muscular dystrophy carries a TRIM32 deletion, detected by a novel CGH array, in compound heterozygosis with a nonsense mutation.

Neri M, Selvatici R, Scotton C, Trabanelli C, Armaroli A, De Grandis D, Levy N, Gualandi F, Ferlini A.

Neuromuscul Disord. 2013 Jun;23(6):478-82. doi: 10.1016/j.nmd.2013.02.003. Epub 2013 Mar 28.

PMID:
23541687
13.

Ex vivo micro-computed tomography analysis of bleomycin-induced lung fibrosis for preclinical drug evaluation.

Scotton CJ, Hayes B, Alexander R, Datta A, Forty EJ, Mercer PF, Blanchard A, Chambers RC.

Eur Respir J. 2013 Dec;42(6):1633-45. doi: 10.1183/09031936.00182412. Epub 2013 Mar 21.

14.

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.

15.

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.

16.

Coagulation cascade proteinases in lung injury and fibrosis.

Chambers RC, Scotton CJ.

Proc Am Thorac Soc. 2012 Jul;9(3):96-101. doi: 10.1513/pats.201201-006AW. Review.

PMID:
22802281
17.

Brody syndrome: a clinically heterogeneous entity distinct from Brody disease: a review of literature and a cross-sectional clinical study in 17 patients.

Voermans NC, Laan AE, Oosterhof A, van Kuppevelt TH, Drost G, Lammens M, Kamsteeg EJ, Scotton C, Gualandi F, Guglielmi V, van den Heuvel L, Vattemi G, van Engelen BG.

Neuromuscul Disord. 2012 Nov;22(11):944-54. doi: 10.1016/j.nmd.2012.03.012. Epub 2012 Jun 15.

PMID:
22704959
18.

Innate immunity in lung fibrosis: a therapeutic role for surfactant protein D?

Scotton CJ, Chambers RC.

Am J Respir Crit Care Med. 2012 Mar 1;185(5):471-3. doi: 10.1164/rccm.201112-2193ED. No abstract available.

PMID:
22383565
19.

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
20.

Progressive severe lung injury by zinc oxide nanoparticles; the role of Zn2+ dissolution inside lysosomes.

Cho WS, Duffin R, Howie SE, Scotton CJ, Wallace WA, Macnee W, Bradley M, Megson IL, Donaldson K.

Part Fibre Toxicol. 2011 Sep 6;8:27. doi: 10.1186/1743-8977-8-27.

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