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Results: 1 to 20 of 181

1.

Genetic heterogeneity and human disease.

Ferlini A, Fini S.

Eur J Hum Genet. 2015 Apr;23(4):559. doi: 10.1038/ejhg.2015.2. No abstract available.

PMID:
25762029
Free Article
2.

Prevalence of congenital muscular dystrophy in Italy: A population study.

Graziano A, Bianco F, D'Amico A, Moroni I, Messina S, Bruno C, Pegoraro E, Mora M, Astrea G, Magri F, Comi GP, Berardinelli A, Moggio M, Morandi L, Pini A, Petillo R, Tasca G, Monforte M, Minetti C, Mongini T, Ricci E, Gorni K, Battini R, Villanova M, Politano L, Gualandi F, Ferlini A, Muntoni F, Santorelli FM, Bertini E, Pane M, Mercuri E.

Neurology. 2015 Mar 3;84(9):904-11. doi: 10.1212/WNL.0000000000001303. Epub 2015 Feb 4.

PMID:
25653289
3.

Thyroid function in rett syndrome.

Stagi S, Cavalli L, Congiu L, Scusa MF, Ferlini A, Bigoni S, Benincasa A, Rossi B, Pini G.

Horm Res Paediatr. 2015;83(2):118-25. doi: 10.1159/000370066. Epub 2015 Jan 21.

PMID:
25614013
4.

204th ENMC International Workshop on Biomarkers in Duchenne Muscular Dystrophy 24-26 January 2014, Naarden, The Netherlands.

Ferlini A, Flanigan KM, Lochmuller H, Muntoni F, 't Hoen PA, McNally E.

Neuromuscul Disord. 2015 Feb;25(2):184-98. doi: 10.1016/j.nmd.2014.09.004. Epub 2014 Sep 11. No abstract available.

PMID:
25529833
5.

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]

6.

A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield.

Ankala A, da Silva C, Gualandi F, Ferlini A, Bean LJ, Collins C, Tanner AK, Hegde MR.

Ann Neurol. 2015 Feb;77(2):206-14. doi: 10.1002/ana.24303. Epub 2014 Dec 17.

PMID:
25380242
7.

Genetic counseling for women referred for advanced maternal age: a telegenetic approach.

Gualandi F, Bigoni S, Melchiorri L, Buldrini B, Balboni A, Neri M, Armaroli A, Parmeggiani G, Italyankina E, Mauro A, Ravani A, Fini S, Caracciolo S, Ferlini A.

Genet Med. 2014 Oct;16(10):795. doi: 10.1038/gim.2014.103. No abstract available.

8.

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.

PMID:
25244215
9.

Characterization of Hb Calvino (HBB: c.406G > A): a new silent β-globin gene variant found in coexistence with α-thalassemia in a family of African origin.

Marsella M, Salvagno G, Dolcini B, Ferlini A, Ravani A, Harteveld CL, Giordano PC, Borgna-Pignatti C.

Hemoglobin. 2014;38(5):369-72. doi: 10.3109/03630269.2014.948186. Epub 2014 Sep 15.

PMID:
25222042
10.

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
11.

Translational and regulatory challenges for exon skipping therapies.

Aartsma-Rus A, Ferlini A, Goemans N, Pasmooij AM, Wells DJ, Bushby K, Vroom E, Balabanov P.

Hum Gene Ther. 2014 Oct;25(10):885-92. doi: 10.1089/hum.2014.086.

PMID:
25184444
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, 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.

13.

Patterns of late gadolinium enhancement in Duchenne muscular dystrophy carriers.

Giglio V, Puddu PE, Camastra G, Sbarbati S, Della Sala SW, Ferlini A, Gualandi F, Ricci E, Sciarra F, Ansalone G, Di Gennaro M.

J Cardiovasc Magn Reson. 2014 Jul 9;16:45. doi: 10.1186/1532-429X-16-45.

14.

Biomarkers and surrogate endpoints in Duchenne: meeting report.

Aartsma-Rus A, Ferlini A, Vroom E.

Neuromuscul Disord. 2014 Aug;24(8):743-5. doi: 10.1016/j.nmd.2014.03.006. Epub 2014 May 28. No abstract available.

PMID:
24951452
15.

Affinity proteomics within rare diseases: a BIO-NMD study for blood biomarkers of muscular dystrophies.

Ayoglu B, Chaouch A, Lochmüller H, Politano L, Bertini E, Spitali P, Hiller M, Niks EH, Gualandi F, Pontén F, Bushby K, Aartsma-Rus A, Schwartz E, Le Priol Y, Straub V, Uhlén M, Cirak S, 't Hoen PA, Muntoni F, Ferlini A, Schwenk JM, Nilsson P, Al-Khalili Szigyarto C.

EMBO Mol Med. 2014 Jun 11;6(7):918-36. doi: 10.15252/emmm.201303724.

16.

Defective collagen VI α6 chain expression in the skeletal muscle of patients with collagen VI-related myopathies.

Tagliavini F, Pellegrini C, Sardone F, Squarzoni S, Paulsson M, Wagener R, Gualandi F, Trabanelli C, Ferlini A, Merlini L, Santi S, Maraldi NM, Faldini C, Sabatelli P.

Biochim Biophys Acta. 2014 Sep;1842(9):1604-12. doi: 10.1016/j.bbadis.2014.05.033. Epub 2014 Jun 5.

17.

Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients.

Micale L, Augello B, Maffeo C, Selicorni A, Zucchetti F, Fusco C, De Nittis P, Pellico MT, Mandriani B, Fischetto R, Boccone L, Silengo M, Biamino E, Perria C, Sotgiu S, Serra G, Lapi E, Neri M, Ferlini A, Cavaliere ML, Chiurazzi P, Monica MD, Scarano G, Faravelli F, Ferrari P, Mazzanti L, Pilotta A, Patricelli MG, Bedeschi MF, Benedicenti F, Prontera P, Toschi B, Salviati L, Melis D, Di Battista E, Vancini A, Garavelli L, Zelante L, Merla G.

Hum Mutat. 2014 Jul;35(7):841-50. doi: 10.1002/humu.22547. Epub 2014 Apr 9.

18.

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.

19.

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
20.

6 Minute walk test in Duchenne MD patients with different mutations: 12 month changes.

Pane M, Mazzone ES, Sormani MP, Messina S, Vita GL, Fanelli L, Berardinelli A, Torrente Y, D'Amico A, Lanzillotta V, Viggiano E, D'Ambrosio P, Cavallaro F, Frosini S, Bello L, Bonfiglio S, Scalise R, De Sanctis R, Rolle E, Bianco F, Van der Haawue M, Magri F, Palermo C, Rossi F, Donati MA, Alfonsi C, Sacchini M, Arnoldi MT, Baranello G, Mongini T, Pini A, Battini R, Pegoraro E, Previtali SC, Napolitano S, Bruno C, Politano L, Comi GP, Bertini E, Morandi L, Gualandi F, Ferlini A, Goemans N, Mercuri E.

PLoS One. 2014 Jan 8;9(1):e83400. doi: 10.1371/journal.pone.0083400. eCollection 2014.

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