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Results: 1 to 20 of 410

1.

Gluconic acid produced by Gluconacetobacter diazotrophicus Pal5 possesses antimicrobial properties.

Nieto-Peñalver CG, Savino MJ, Bertini EV, Sánchez LA, Castellanos de Figueroa LI.

Res Microbiol. 2014 Jul 15. pii: S0923-2508(14)00102-8. doi: 10.1016/j.resmic.2014.06.003. [Epub ahead of print]

PMID:
25049167
[PubMed - as supplied by publisher]
2.

A new simple and rapid LC-ESI-MS/MS method for quantification of plasma oxysterols as dimethylaminobutyrate esters. Its successful use for the diagnosis of Niemann-Pick type C disease.

Boenzi S, Deodato F, Taurisano R, Martinelli D, Verrigni D, Carrozzo R, Bertini E, Pastore A, Dionisi-Vici C, Johnson DW.

Clin Chim Acta. 2014 Jul 16. pii: S0009-8981(14)00297-6. doi: 10.1016/j.cca.2014.07.010. [Epub ahead of print]

PMID:
25038260
[PubMed - as supplied by publisher]
3.

A Case of Cleidocranial Dysplasia with Peculiar Dental Features: Pathogenetic Role of the RUNX2 Mutation and Long Term Follow-Up.

Callea M, Bellacchio E, Di Stazio M, Fattori F, Bertini E, Yavuz I, Clarich G, Gunay A.

Oral Health Dent Manag. 2014 Jun;13(2):548-51.

PMID:
24984680
[PubMed - in process]
4.

Activating PIK3CA somatic mutation in congenital unilateral isolated muscle overgrowth of the upper extremity.

Castiglioni C, Bertini E, Orellana P, Villarroel C, Las Heras F, Hinzpeter D, Paolinelli P, Bevilacqua JA, Alvarez K.

Am J Med Genet A. 2014 Jun 26. doi: 10.1002/ajmg.a.36651. [Epub ahead of print]

PMID:
24975390
[PubMed - as supplied by publisher]
5.

Gluconacetobacter diazotrophicus PAL5 possesses an active quorum sensing regulatory system.

Bertini EV, Nieto Peñalver CG, Leguina AC, Irazusta VP, de Figueroa LI.

Antonie Van Leeuwenhoek. 2014 Jun 29. [Epub ahead of print]

PMID:
24974195
[PubMed - as supplied by publisher]
6.

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
7.

Hypomyelinating leukodystrophies: Translational research progress and prospects.

Pouwels PJ, Vanderver A, Bernard G, Wolf NI, Dreha-Kulczewksi SF, Deoni SC, Bertini E, Kohlschütter A, Richardson W, Ffrench-Constant C, Köhler W, Rowitch D, Barkovich AJ.

Ann Neurol. 2014 Jul;76(1):5-19. doi: 10.1002/ana.24194. Epub 2014 Jun 24.

PMID:
24916848
[PubMed - in process]
8.

Mitochondrial dysfunction in central nervous system white matter disorders.

Morató L, Bertini E, Verrigni D, Ardissone A, Ruiz M, Ferrer I, Uziel G, Pujol A.

Glia. 2014 May 28. doi: 10.1002/glia.22670. [Epub ahead of print]

PMID:
24865954
[PubMed - as supplied by publisher]
9.

Frataxin silencing inactivates mitochondrial Complex I in NSC34 motoneuronal cells and alters glutathione homeostasis.

Carletti B, Piermarini E, Tozzi G, Travaglini L, Torraco A, Pastore A, Sparaco M, Petrillo S, Carrozzo R, Bertini E, Piemonte F.

Int J Mol Sci. 2014 Apr 4;15(4):5789-806. doi: 10.3390/ijms15045789.

PMID:
24714088
[PubMed - in process]
Free PMC Article
10.

Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies.

Marttila M, Lehtokari VL, Marston S, Nyman TA, Barnerias C, Beggs AH, Bertini E, Ceyhan-Birsoy O, Cintas P, Gerard M, Gilbert-Dussardier B, Hogue JS, Longman C, Eymard B, Frydman M, Kang PB, Klinge L, Kolski H, Lochmüller H, Magy L, Manel V, Mayer M, Mercuri E, North KN, Peudenier-Robert S, Pihko H, Probst FJ, Reisin R, Stewart W, Taratuto AL, de Visser M, Wilichowski E, Winer J, Nowak K, Laing NG, Winder TL, Monnier N, Clarke NF, Pelin K, Grönholm M, Wallgren-Pettersson C.

Hum Mutat. 2014 Jul;35(7):779-90. doi: 10.1002/humu.22554. Epub 2014 May 1.

PMID:
24692096
[PubMed - in process]
11.

Effects of levosimendan on mitochondrial function in patients with septic shock: a randomized trial.

Torraco A, Carrozzo R, Piemonte F, Pastore A, Tozzi G, Verrigni D, Assenza M, Orecchioni A, D'Egidio A, Marraffa E, Landoni G, Bertini E, Morelli A.

Biochimie. 2014 Jul;102:166-73. doi: 10.1016/j.biochi.2014.03.006. Epub 2014 Mar 19.

PMID:
24657218
[PubMed - in process]
12.

Defects of RNA metabolism in the pathogenesis of spinal muscular atrophy.

Bertini E, Houlden H.

Neurology. 2014 Apr 15;82(15):1298-9. doi: 10.1212/WNL.0000000000000321. Epub 2014 Mar 19. No abstract available.

PMID:
24647031
[PubMed - indexed for MEDLINE]
13.

Oligophrenin-1 (OPHN1), a gene involved in X-linked intellectual disability, undergoes RNA editing and alternative splicing during human brain development.

Barresi S, Tomaselli S, Athanasiadis A, Galeano F, Locatelli F, Bertini E, Zanni G, Gallo A.

PLoS One. 2014 Mar 17;9(3):e91351. doi: 10.1371/journal.pone.0091351. eCollection 2014.

PMID:
24637888
[PubMed - in process]
Free PMC Article
14.

A novel mutation in the endosomal Na+/H+ exchanger NHE6 (SLC9A6) causes Christianson syndrome with electrical status epilepticus during slow-wave sleep (ESES).

Zanni G, Barresi S, Cohen R, Specchio N, Basel-Vanagaite L, Valente EM, Shuper A, Vigevano F, Bertini E.

Epilepsy Res. 2014 May;108(4):811-5. doi: 10.1016/j.eplepsyres.2014.02.009. Epub 2014 Feb 19.

PMID:
24630051
[PubMed - in process]
15.

Diagnostic approach to the congenital muscular dystrophies.

Bönnemann CG, Wang CH, Quijano-Roy S, Deconinck N, Bertini E, Ferreiro A, Muntoni F, Sewry C, Béroud C, Mathews KD, Moore SA, Bellini J, Rutkowski A, North KN; Members of International Standard of Care Committee for Congenital Muscular Dystrophies.

Neuromuscul Disord. 2014 Apr;24(4):289-311. doi: 10.1016/j.nmd.2013.12.011. Epub 2014 Jan 9.

PMID:
24581957
[PubMed - in process]
Free Article
16.

Childhood onset tubular aggregate myopathy associated with de novo STIM1 mutations.

Hedberg C, Niceta M, Fattori F, Lindvall B, Ciolfi A, D'Amico A, Tasca G, Petrini S, Tulinius M, Tartaglia M, Oldfors A, Bertini E.

J Neurol. 2014 May;261(5):870-6. doi: 10.1007/s00415-014-7287-x. Epub 2014 Feb 26.

PMID:
24570283
[PubMed - in process]
17.

Megalencephalic leukoencephalopathy with subcortical cysts protein-1 modulates endosomal pH and protein trafficking in astrocytes: relevance to MLC disease pathogenesis.

Brignone MS, Lanciotti A, Visentin S, De Nuccio C, Molinari P, Camerini S, Diociaiuti M, Petrini S, Minnone G, Crescenzi M, Laudiero LB, Bertini E, Petrucci TC, Ambrosini E.

Neurobiol Dis. 2014 Jun;66:1-18. doi: 10.1016/j.nbd.2014.02.003. Epub 2014 Feb 19.

PMID:
24561067
[PubMed - in process]
Free PMC Article
18.

Myoclonus in mitochondrial disorders.

Mancuso M, Orsucci D, Angelini C, Bertini E, Catteruccia M, Pegoraro E, Carelli V, Valentino ML, Comi GP, Minetti C, Bruno C, Moggio M, Ienco EC, Mongini T, Vercelli L, Primiano G, Servidei S, Tonin P, Scarpelli M, Toscano A, Musumeci O, Moroni I, Uziel G, Santorelli FM, Nesti C, Filosto M, Lamperti C, Zeviani M, Siciliano G.

Mov Disord. 2014 May;29(6):722-8. doi: 10.1002/mds.25839. Epub 2014 Feb 7.

PMID:
24510442
[PubMed - in process]
19.

Hammersmith Functional Motor Scale and Motor Function Measure-20 in non ambulant SMA patients.

Mazzone E, De Sanctis R, Fanelli L, Bianco F, Main M, van den Hauwe M, Ash M, de Vries R, Fagoaga Mata J, Schaefer K, D'Amico A, Colia G, Palermo C, Scoto M, Mayhew A, Eagle M, Servais L, Vigo M, Febrer A, Korinthenberg R, Jeukens M, de Viesser M, Totoescu A, Voit T, Bushby K, Muntoni F, Goemans N, Bertini E, Pane M, Mercuri E.

Neuromuscul Disord. 2014 Apr;24(4):347-52. doi: 10.1016/j.nmd.2014.01.003. Epub 2014 Jan 16.

PMID:
24491485
[PubMed - in process]
20.

Persistent pulmonary arterial hypertension in the newborn (PPHN): a frequent manifestation of TMEM70 defective patients.

Catteruccia M, Verrigni D, Martinelli D, Torraco A, Agovino T, Bonafé L, D'Amico A, Donati MA, Adorisio R, Santorelli FM, Carrozzo R, Bertini E, Dionisi-Vici C.

Mol Genet Metab. 2014 Mar;111(3):353-9. doi: 10.1016/j.ymgme.2014.01.001. Epub 2014 Jan 8.

PMID:
24485043
[PubMed - in process]

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