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Results: 1 to 20 of 201

1.

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 Apr 30. pii: S1090-3798(15)00076-8. doi: 10.1016/j.ejpn.2015.04.002. [Epub ahead of print]

PMID:
25978941
2.

Correction: Gene Expression Profiling Identifies Molecular Pathways Associated with Collagen VI Deficiency and Provides Novel Therapeutic Targets.

Paco S, Kalko SG, Jou C, Rodríguez MA, Corbera J, Muntoni F, Feng L, Rivas E, Torner F, Gualandi F, Gomez-Foix AM, Ferrer A, Ortez C, Nascimento A, Colomer J, Jimenez-Mallebrera C.

PLoS One. 2015 May 14;10(5):e0128614. doi: 10.1371/journal.pone.0128614. eCollection 2015.

3.

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 7;21(5):537. doi: 10.1038/nm0515-537c. No abstract available.

PMID:
25951531
4.

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 7;21(4):414. doi: 10.1038/nm0415-414b. No abstract available.

PMID:
25849273
5.

Detecting collagen VI in Bethlem myopathy.

Sabatelli P, Gualandi F, Bonaldo P, Merlini L.

J Biol Chem. 2015 Mar 20;290(12):8011. doi: 10.1074/jbc.L115.639088. No abstract available.

PMID:
25795730
6.

Autologous hematopoietic stem cell transplantation in multiple sclerosis: a phase II trial.

Mancardi GL, Sormani MP, Gualandi F, Saiz A, Carreras E, Merelli E, Donelli A, Lugaresi A, Di Bartolomeo P, Rottoli MR, Rambaldi A, Amato MP, Massacesi L, Di Gioia M, Vuolo L, Currò D, Roccatagliata L, Filippi M, Aguglia U, Iacopino P, Farge D, Saccardi R; ASTIMS Haemato-Neurological Collaborative Group, On behalf of the Autoimmune Disease Working Party (ADWP) of the European Group for Blood and Marrow Transplantation (EBMT); ASTIMS Haemato-Neurological Collaborative Group On behalf of the Autoimmune Disease Working Party ADWP of the European Group for Blood and Marrow Transplantation EBMT.

Neurology. 2015 Mar 10;84(10):981-8. doi: 10.1212/WNL.0000000000001329. Epub 2015 Feb 11.

PMID:
25672923
7.

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
8.

Low intensity lympho-ablative regimen followed by autologous hematopoietic stem cell transplantation in severe forms of multiple sclerosis: A MRI-based clinical study.

Curro' D, Vuolo L, Gualandi F, Bacigalupo A, Roccatagliata L, Capello E, Uccelli A, Saccardi R, Sormani MP, Mancardi G.

Mult Scler. 2015 Jan 12. pii: 1352458514564484. [Epub ahead of print]

PMID:
25583838
9.

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
10.

DLI after haploidentical BMT with post-transplant CY.

Ghiso A, Raiola AM, Gualandi F, Dominietto A, Varaldo R, Van Lint MT, Bregante S, Di Grazia C, Lamparelli T, Galaverna F, Stasia A, Luchetti S, Geroldi S, Grasso R, Colombo N, Bacigalupo A.

Bone Marrow Transplant. 2015 Jan;50(1):56-61. doi: 10.1038/bmt.2014.217. Epub 2014 Oct 13.

PMID:
25310304
11.

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.

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.

Monoamine oxidase inhibition prevents mitochondrial dysfunction and apoptosis in myoblasts from patients with collagen VI myopathies.

Sorato E, Menazza S, Zulian A, Sabatelli P, Gualandi F, Merlini L, Bonaldo P, Canton M, Bernardi P, Di Lisa F.

Free Radic Biol Med. 2014 Oct;75:40-7. doi: 10.1016/j.freeradbiomed.2014.07.006. Epub 2014 Jul 10.

14.

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.

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.

Unmanipulated haploidentical transplants compared with other alternative donors and matched sibling grafts.

Raiola AM, Dominietto A, di Grazia C, Lamparelli T, Gualandi F, Ibatici A, Bregante S, Van Lint MT, Varaldo R, Ghiso A, Gobbi M, Carella AM, Signori A, Galaverna F, Bacigalupo A.

Biol Blood Marrow Transplant. 2014 Oct;20(10):1573-9. doi: 10.1016/j.bbmt.2014.05.029. Epub 2014 Jun 5.

PMID:
24910379
17.

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.

18.

CD34 selected cells for the treatment of poor graft function after allogeneic stem cell transplantation.

Stasia A, Ghiso A, Galaverna F, Raiola AM, Gualandi F, Luchetti S, Pozzi S, Varaldo R, Lamparelli T, Bregante S, Van Lint MT, di Grazia C, Bacigalupo A.

Biol Blood Marrow Transplant. 2014 Sep;20(9):1440-3. doi: 10.1016/j.bbmt.2014.05.016. Epub 2014 May 24.

PMID:
24862637
19.

Systemic lupus erythematosus complicated with thymoma and pure red cell aplasia (PCRA). CR of both complications following thymectomy and allogeneic haematopoietic SCT (HSCT), but persistence of antinuclear antibodies (ANA).

Marmont AM, Bacigalupo A, Gualandi F, Bregante S, van Lint MT, Geroldi S.

Bone Marrow Transplant. 2014 Jul;49(7):982-3. doi: 10.1038/bmt.2014.68. Epub 2014 May 12. No abstract available.

PMID:
24820215
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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