Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 173

1.

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 Sep 15:1-4. [Epub ahead of print]

PMID:
25222042
[PubMed - as supplied by publisher]
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 Sep 11. [Epub ahead of print]

PMID:
25211533
[PubMed - as supplied by publisher]
3.

Translational and regulatory challenges for exon skipping therapies Statement paper based on a BM1207 COST Action meeting involving patient representatives, clinicians, preclinical scientists and regulators.

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

Hum Gene Ther. 2014 Sep 3. [Epub ahead of print]

PMID:
25184444
[PubMed - as supplied by publisher]
4.

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.

PMID:
25108525
[PubMed - in process]
5.

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.

PMID:
25008475
[PubMed - in process]
Free PMC Article
6.

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
[PubMed - in process]
7.

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.

PMID:
24920607
[PubMed - in process]
Free PMC Article
8.

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.

PMID:
24907562
[PubMed - in process]
Free Article
9.

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.

PMID:
24633898
[PubMed - in process]
10.

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.

PMID:
24506782
[PubMed - in process]
11.

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
[PubMed - indexed for MEDLINE]
12.

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.

PMID:
24421885
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

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.

PMID:
24392452
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

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
[PubMed - indexed for MEDLINE]
15.

Dystromirs as serum biomarkers for monitoring the disease severity in Duchenne muscular Dystrophy.

Zaharieva IT, Calissano M, Scoto M, Preston M, Cirak S, Feng L, Collins J, Kole R, Guglieri M, Straub V, Bushby K, Ferlini A, Morgan JE, Muntoni F.

PLoS One. 2013 Nov 25;8(11):e80263. doi: 10.1371/journal.pone.0080263. eCollection 2013.

PMID:
24282529
[PubMed - in process]
Free PMC Article
16.

A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis.

Fogh I, Ratti A, Gellera C, Lin K, Tiloca C, Moskvina V, Corrado L, Sorarù G, Cereda C, Corti S, Gentilini D, Calini D, Castellotti B, Mazzini L, Querin G, Gagliardi S, Del Bo R, Conforti FL, Siciliano G, Inghilleri M, Saccà F, Bongioanni P, Penco S, Corbo M, Sorbi S, Filosto M, Ferlini A, Di Blasio AM, Signorini S, Shatunov A, Jones A, Shaw PJ, Morrison KE, Farmer AE, Van Damme P, Robberecht W, Chiò A, Traynor BJ, Sendtner M, Melki J, Meininger V, Hardiman O, Andersen PM, Leigh NP, Glass JD, Overste D, Diekstra FP, Veldink JH, van Es MA, Shaw CE, Weale ME, Lewis CM, Williams J, Brown RH, Landers JE, Ticozzi N, Ceroni M, Pegoraro E, Comi GP, D'Alfonso S, van den Berg LH, Taroni F, Al-Chalabi A, Powell J, Silani V; SLAGEN Consortium and Collaborators.

Hum Mol Genet. 2014 Apr 15;23(8):2220-31. doi: 10.1093/hmg/ddt587. Epub 2013 Nov 20.

PMID:
24256812
[PubMed - in process]
17.

Biochemical characterization of patients with in-frame or out-of-frame DMD deletions pertinent to exon 44 or 45 skipping.

Anthony K, Arechavala-Gomeza V, Ricotti V, Torelli S, Feng L, Janghra N, Tasca G, Guglieri M, Barresi R, Armaroli A, Ferlini A, Bushby K, Straub V, Ricci E, Sewry C, Morgan J, Muntoni F.

JAMA Neurol. 2014 Jan;71(1):32-40. doi: 10.1001/jamaneurol.2013.4908.

PMID:
24217213
[PubMed - indexed for MEDLINE]
18.

Prenatal genetic counseling referrals for advanced maternal age: still room for improvement.

Pompilii E, Astolfi G, Calabrese O, Calzolari E, Ferlini A, Lucci M, Parmeggiani G, Seri M, Baroncini A.

Prenat Diagn. 2014 Jan;34(1):71-4.

PMID:
24166136
[PubMed - indexed for MEDLINE]
19.

Non-coding RNAs in muscle dystrophies.

Erriquez D, Perini G, Ferlini A.

Int J Mol Sci. 2013 Sep 30;14(10):19681-704. doi: 10.3390/ijms141019681. Review.

PMID:
24084719
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

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
[PubMed - indexed for MEDLINE]

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Loading ...
Write to the Help Desk