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Results: 1 to 20 of 189

1.

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 Jul 10. pii: S0891-5849(14)00320-7. doi: 10.1016/j.freeradbiomed.2014.07.006. [Epub ahead of print]

PMID:
25017965
[PubMed - as supplied by publisher]
2.

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(1):45. doi: 10.1186/1532-429X-16-45.

PMID:
25008475
[PubMed - in process]
Free PMC Article
3.

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 Article
4.

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 Jun 5. pii: S1083-8791(14)00329-2. doi: 10.1016/j.bbmt.2014.05.029. [Epub ahead of print]

PMID:
24910379
[PubMed - as supplied by publisher]
5.

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 Jun 5;1842(9):1604-1612. doi: 10.1016/j.bbadis.2014.05.033. [Epub ahead of print]

PMID:
24907562
[PubMed - as supplied by publisher]
Free Article
6.

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 May 24. pii: S1083-8791(14)00314-0. doi: 10.1016/j.bbmt.2014.05.016. [Epub ahead of print]

PMID:
24862637
[PubMed - as supplied by publisher]
7.

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
[PubMed - in process]
8.

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 - in process]
Free PMC Article
9.

Natural history of pulmonary function in collagen VI-related myopathies.

Foley AR, Quijano-Roy S, Collins J, Straub V, McCallum M, Deconinck N, Mercuri E, Pane M, D'Amico A, Bertini E, North K, Ryan MM, Richard P, Allamand V, Hicks D, Lamandé S, Hu Y, Gualandi F, Auh S, Muntoni F, Bönnemann CG.

Brain. 2013 Dec;136(Pt 12):3625-33. doi: 10.1093/brain/awt284. Epub 2013 Nov 22.

PMID:
24271325
[PubMed - indexed for MEDLINE]
10.

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. 2013 Oct 11;8(10):e77430. doi: 10.1371/journal.pone.0077430. eCollection 2013.

PMID:
24223098
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

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]
12.

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
[PubMed - indexed for MEDLINE]
13.

Characterization of a rare case of Ullrich congenital muscular dystrophy due to truncating mutations within the COL6A1 gene C-terminal domain: a case report.

Martoni E, Petrini S, Trabanelli C, Sabatelli P, Urciuolo A, Selvatici R, D'Amico A, Falzarano S, Bertini E, Bonaldo P, Ferlini A, Gualandi F.

BMC Med Genet. 2013 Jun 5;14:59. doi: 10.1186/1471-2350-14-59.

PMID:
23738969
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

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
[PubMed - indexed for MEDLINE]
15.

Early neurodevelopmental assessment in Duchenne muscular dystrophy.

Pane M, Scalise R, Berardinelli A, D'Angelo G, Ricotti V, Alfieri P, Moroni I, Hartley L, Pera MC, Baranello G, Catteruccia M, Casalino T, Romeo DM, Graziano A, Gandioli C, Bianco F, Mazzone ES, Lombardo ME, Scoto M, Sivo S, Palermo C, Gualandi F, Sormani MP, Ferlini A, Bertini E, Muntoni F, Mercuri E.

Neuromuscul Disord. 2013 Jun;23(6):451-5. doi: 10.1016/j.nmd.2013.02.012. Epub 2013 Mar 25.

PMID:
23535446
[PubMed - indexed for MEDLINE]
16.

Sjögren's syndrome associated chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) treated with autologous and subsequently allogeneic haematopoietic SCT (HSCT).

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

Bone Marrow Transplant. 2013 Aug;48(8):1139-40. doi: 10.1038/bmt.2013.18. Epub 2013 Mar 18. No abstract available.

PMID:
23503533
[PubMed - indexed for MEDLINE]
17.

Duchenne muscular dystrophy and epilepsy.

Pane M, Messina S, Bruno C, D'Amico A, Villanova M, Brancalion B, Sivo S, Bianco F, Striano P, Battaglia D, Lettori D, Vita GL, Bertini E, Gualandi F, Ricotti V, Ferlini A, Mercuri E.

Neuromuscul Disord. 2013 Apr;23(4):313-5. doi: 10.1016/j.nmd.2013.01.011. Epub 2013 Mar 7.

PMID:
23465656
[PubMed - indexed for MEDLINE]
18.

Leukaemia relapse after allogeneic transplants for acute myeloid leukaemia: predictive role of WT1 expression.

Pozzi S, Geroldi S, Tedone E, Luchetti S, Grasso R, Colombo N, Di Grazia C, Lamparelli T, Gualandi F, Ibatici A, Bregante S, Van Lint MT, Raiola AM, Dominietto A, Varaldo R, Signori A, Bacigalupo A.

Br J Haematol. 2013 Feb;160(4):503-9. doi: 10.1111/bjh.12181. Epub 2013 Jan 7.

PMID:
23294252
[PubMed - indexed for MEDLINE]
19.

Autologous haematopoietic stem cell transplantation for systemic lupus erythematosus: data from the European Group for Blood and Marrow Transplantation registry.

Alchi B, Jayne D, Labopin M, Demin A, Sergeevicheva V, Alexander T, Gualandi F, Gruhn B, Ouyang J, Rzepecki P, Held G, Sampol A, Voswinkel J, Ljungman P, Fassas A, Badoglio M, Saccardi R, Farge D; EBMT Autoimmune Disease Working Party members.

Lupus. 2013 Mar;22(3):245-53. doi: 10.1177/0961203312470729. Epub 2012 Dec 20. Erratum in: Lupus. 2013 May;22(6):653. Demin, Alexander [added]; Kotova, O [removed].

PMID:
23257404
[PubMed - indexed for MEDLINE]
20.

Melanocytes--a novel tool to study mitochondrial dysfunction in Duchenne muscular dystrophy.

Pellegrini C, Zulian A, Gualandi F, Manzati E, Merlini L, Michelini ME, Benassi L, Marmiroli S, Ferlini A, Sabatelli P, Bernardi P, Maraldi NM.

J Cell Physiol. 2013 Jun;228(6):1323-31. doi: 10.1002/jcp.24290.

PMID:
23169061
[PubMed - indexed for MEDLINE]
Free PMC Article

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