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Items: 1 to 20 of 80

1.

Neuroprotective effects of topiramate and memantine in combination with hypothermia in hypoxic-ischemic brain injury in vitro and in vivo.

Landucci E, Filippi L, Gerace E, Catarzi S, Guerrini R, Pellegrini-Giampietro DE.

Neurosci Lett. 2018 Mar 6;668:103-107. doi: 10.1016/j.neulet.2018.01.023. Epub 2018 Jan 12.

PMID:
29339173
2.

Safety and efficacy of topiramate in neonates with hypoxic ischemic encephalopathy treated with hypothermia (NeoNATI): a feasibility study.

Filippi L, Fiorini P, Catarzi S, Berti E, Padrini L, Landucci E, Donzelli G, Bartalena L, Fiorentini E, Boldrini A, Giampietri M, Scaramuzzo RT, la Marca G, Della Bona ML, Fiori S, Tinelli F, Bancale A, Guzzetta A, Cioni G, Pisano T, Falchi M, Guerrini R.

J Matern Fetal Neonatal Med. 2018 Apr;31(8):973-980. doi: 10.1080/14767058.2017.1304536. Epub 2017 Mar 28.

PMID:
28274169
3.

8-Oxo-7,8-dihydro-2'-deoxyguanosine and other lesions along the coding strand of the exon 5 of the tumour suppressor gene P53 in a breast cancer case-control study.

Brancato B, Munnia A, Cellai F, Ceni E, Mello T, Bianchi S, Catarzi S, Risso GG, Galli A, Peluso ME.

DNA Res. 2016 Aug;23(4):395-402. doi: 10.1093/dnares/dsw018. Epub 2016 Jun 2.

4.

Human Acid β-Glucosidase Inhibition by Carbohydrate Derived Iminosugars: Towards New Pharmacological Chaperones for Gaucher Disease.

Parmeggiani C, Catarzi S, Matassini C, D'Adamio G, Morrone A, Goti A, Paoli P, Cardona F.

Chembiochem. 2015 Sep 21;16(14):2054-64. doi: 10.1002/cbic.201500292.

PMID:
26376302
5.

5A.01: CORONARY ATHEROSCLEROSIS AND ADVERSE OUTCOME IN HYPERTENSIVE PATIENTS WITH RECENT-ONSET ATRIAL FIBRILLATION AND TROPONIN RISE.

Conti A, Angeli E, Trausi F, Grifoni C, Lazzeretti D, Bianchi S, Catarzi S, Covelli A, Perrotta ME, Lencioni AM, Pisani N, Bertolini L.

J Hypertens. 2015 Jun;33 Suppl 1:e64. doi: 10.1097/01.hjh.0000467517.51757.a7.

PMID:
26102883
6.

2D.06: IN HYPERTENSIVE PATIENTS WITH CHEST PAIN AND NORMAL RESTING ECG THE LOW-COST EXERCISE HIGH-FREQUENCY QRS-ANALYSIS IS COMPARABLE TO THE EXERCISE ECHO.

Conti A, Bianchi S, Trausi F, Grifoni C, Angeli E, Paolini D, Catarzi S, Perrotta ME, Covelli A, Renzi N, Bertolini P, Mazzucchelli M.

J Hypertens. 2015 Jun;33 Suppl 1:e29. doi: 10.1097/01.hjh.0000467427.41935.3d.

PMID:
26102781
7.

2D.03: IMPROVING DIAGNOSTIC STRATEGY IN PATIENTS WITH LONG-STANDING HYPERTENSION, CHEST PAIN AND NORMAL RESTING ECG: VALUE OF THE EXERCISE HIGH-FREQUENCY QRS VERSUS ST-SEGMENT ANALYSIS.

Conti A, Bianchi S, Grifoni C, Trausi F, Angeli E, Paolini D, Catarzi S, Perrotta ME, Covelli A, Renzi N, Bertolini P, Mazzucchelli M.

J Hypertens. 2015 Jun;33 Suppl 1:e28-9. doi: 10.1097/01.hjh.0000467424.57183.e7.

PMID:
26102778
8.

Familial periventricular nodular heterotopia, epilepsy and Melnick-Needles Syndrome caused by a single FLNA mutation with combined gain-of-function and loss-of-function effects.

Parrini E, Mei D, Pisanti MA, Catarzi S, Pucatti D, Bianchini C, Mascalchi M, Bertini E, Morrone A, Cavaliere ML, Guerrini R.

J Med Genet. 2015 Jun;52(6):405-12. doi: 10.1136/jmedgenet-2014-102959. Epub 2015 Mar 9.

PMID:
25755106
9.

Alpha Glucosidase Assay on Dried Blood Spot in the Early Diagnosis of Infantile Pompe Disease.

Sacchini M, Procopio E, Pasquini E, Pochiero F, Ombrone D, LaMarca G, Catarzi S, Morrone A, Donati MA.

J Neuromuscul Dis. 2015;2(s1):S53. No abstract available.

PMID:
27858645
10.

Optimizing the molecular diagnosis of GALNS: novel methods to define and characterize Morquio-A syndrome-associated mutations.

Caciotti A, Tonin R, Rigoldi M, Ferri L, Catarzi S, Cavicchi C, Procopio E, Donati MA, Ficcadenti A, Fiumara A, Barone R, Garavelli L, Rocco MD, Filocamo M, Antuzzi D, Scarpa M, Mooney SD, Li B, Skouma A, Bianca S, Concolino D, Casalone R, Monti E, Pantaleo M, Giglio S, Guerrini R, Parini R, Morrone A.

Hum Mutat. 2015 Mar;36(3):357-68. doi: 10.1002/humu.22751.

PMID:
25545067
11.

Sudden unexpected fatal encephalopathy in adults with OTC gene mutations-Clues for early diagnosis and timely treatment.

Cavicchi C, Donati M, Parini R, Rigoldi M, Bernardi M, Orfei F, Gentiloni Silveri N, Colasante A, Funghini S, Catarzi S, Pasquini E, la Marca G, Mooney S, Guerrini R, Morrone A.

Orphanet J Rare Dis. 2014 Jul 16;9:105. doi: 10.1186/s13023-014-0105-9.

12.

Medium-chain acyl-CoA deficiency: outlines from newborn screening, in silico predictions, and molecular studies.

Catarzi S, Caciotti A, Thusberg J, Tonin R, Malvagia S, la Marca G, Pasquini E, Cavicchi C, Ferri L, Donati MA, Baronio F, Guerrini R, Mooney SD, Morrone A.

ScientificWorldJournal. 2013 Oct 31;2013:625824. doi: 10.1155/2013/625824. eCollection 2013.

13.

Galactosialidosis: review and analysis of CTSA gene mutations.

Caciotti A, Catarzi S, Tonin R, Lugli L, Perez CR, Michelakakis H, Mavridou I, Donati MA, Guerrini R, d'Azzo A, Morrone A.

Orphanet J Rare Dis. 2013 Aug 2;8:114. doi: 10.1186/1750-1172-8-114. Review.

14.

New clinical and molecular insights on Barth syndrome.

Ferri L, Donati MA, Funghini S, Malvagia S, Catarzi S, Lugli L, Ragni L, Bertini E, Vaz FM, Cooper DN, Guerrini R, Morrone A.

Orphanet J Rare Dis. 2013 Feb 14;8:27. doi: 10.1186/1750-1172-8-27.

15.

Sudden unexpected infant death (SUDI) in a newborn due to medium chain acyl CoA dehydrogenase (MCAD) deficiency with an unusual severe genotype.

Lovera C, Porta F, Caciotti A, Catarzi S, Cassanello M, Caruso U, Gallina MR, Morrone A, Spada M.

Ital J Pediatr. 2012 Oct 24;38:59. doi: 10.1186/1824-7288-38-59.

16.

Safety and efficacy of topiramate in neonates with hypoxic ischemic encephalopathy treated with hypothermia (NeoNATI).

Filippi L, Fiorini P, Daniotti M, Catarzi S, Savelli S, Fonda C, Bartalena L, Boldrini A, Giampietri M, Scaramuzzo R, Papoff P, Del Balzo F, Spalice A, la Marca G, Malvagia S, Della Bona ML, Donzelli G, Tinelli F, Cioni G, Pisano T, Falchi M, Guerrini R.

BMC Pediatr. 2012 Sep 5;12:144. doi: 10.1186/1471-2431-12-144.

17.

Strategies for reducing the incidence of skin complications in newborns treated with whole-body hypothermia.

Filippi L, Catarzi S, Padrini L, Fiorini P, la Marca G, Guerrini R, Donzelli GP.

J Matern Fetal Neonatal Med. 2012 Oct;25(10):2115-21. doi: 10.3109/14767058.2012.683898. Epub 2012 May 14.

PMID:
22524246
18.

Hypothermia for neonatal hypoxic-ischemic encephalopathy: may an early amplitude-integrated EEG improve the selection of candidates for cooling?

Filippi L, Catarzi S, Gozzini E, Fiorini P, Falchi M, Pisano T, la Marca G, Donzelli G, Guerrini R.

J Matern Fetal Neonatal Med. 2012 Nov;25(11):2171-6. doi: 10.3109/14767058.2012.683896. Epub 2012 May 4.

PMID:
22506547
19.

Morquio A syndrome due to maternal uniparental isodisomy of the telomeric end of chromosome 16.

Catarzi S, Giunti L, Papadia F, Gabrielli O, Guerrini R, Donati MA, Genuardi M, Morrone A.

Mol Genet Metab. 2012 Mar;105(3):438-42. doi: 10.1016/j.ymgme.2011.11.196. Epub 2011 Dec 2.

PMID:
22178352
20.

Accuracy of needle biopsy of breast lesions visible on ultrasound: audit of fine needle versus core needle biopsy in 3233 consecutive samplings with ascertained outcomes.

Brancato B, Crocetti E, Bianchi S, Catarzi S, Risso GG, Bulgaresi P, Piscioli F, Scialpi M, Ciatto S, Houssami N.

Breast. 2012 Aug;21(4):449-54. doi: 10.1016/j.breast.2011.10.008. Epub 2011 Nov 15.

PMID:
22088803

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