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Items: 1 to 50 of 289

1.

P5CS expression study in a new family with ALDH18A1-associated hereditary spastic paraplegia SPG9.

Magini P, Marco-Marin C, Escamilla-Honrubia JM, Martinelli D, Dionisi-Vici C, Faravelli F, Forzano F, Seri M, Rubio V, Panza E.

Ann Clin Transl Neurol. 2019 Aug;6(8):1533-1540. doi: 10.1002/acn3.50821. Epub 2019 Jul 19.

2.

Limitations in daily activities and general perception of quality of life: long term follow-up in patients with anti-myelin-glycoprotein (MAG) antibody polyneuropathy.

Campagnolo M, Ruiz M, Falzone YM, Ermani M, Bianco M, Martinelli D, Cerri F, Quattrini A, Salvalaggio A, Castellani F, Comi G, Giannini F, Nobile-Orazio E, Fazio R, Riva N, Briani C.

J Peripher Nerv Syst. 2019 Aug 9. doi: 10.1111/jns.12342. [Epub ahead of print]

PMID:
31397934
3.

Immunization Campaigns and Strategies against Human Papillomavirus in Italy: The Results of a Survey to Regional and Local Health Units Representatives.

Trucchi C, Costantino C, Restivo V, Bertoncello C, Fortunato F, Tafuri S, Amicizia D, Martinelli D, Paganino C, Piazza MF, Tassinari F, Tisa V, Stefanizzi P, Baldo V, Casuccio A, Prato R, Ansaldi F, Icardi G.

Biomed Res Int. 2019 Jul 4;2019:6764154. doi: 10.1155/2019/6764154. eCollection 2019.

4.

Chronic Liver Involvement in Urea Cycle Disorders.

Ranucci G, Rigoldi M, Cotugno G, Bernabei S, Liguori A, Gasperini S, Goffredo B, Martinelli D, Monti L, Francalanci P, Candusso M, Parini R, Dionisi-Vici C.

J Inherit Metab Dis. 2019 Jul 1. doi: 10.1002/jimd.12144. [Epub ahead of print]

PMID:
31260111
5.

Hyperkinetic movement disorders in congenital disorders of glycosylation.

Mostile G, Barone R, Nicoletti A, Rizzo R, Martinelli D, Sturiale L, Fiumara A, Jankovic J, Zappia M.

Eur J Neurol. 2019 Sep;26(9):1226-1234. doi: 10.1111/ene.14007. Epub 2019 Jun 21.

PMID:
31132195
6.

[ESCULAPIO: A project to elaborate strategies and actions of multi-purpose health communication on vaccine preventable infectious diseases in order to increase vaccination coverage in the population].

Bechini A, Bonanni P, Moscadelli A, Lauri S, Tiscione E, Levi M, Prato R, Fortunato F, Martinelli D, Gasparini R, Panatto D, Amicizia D, Coppola RC, Pellizzari B, Tabacchi G, Costantino C, Casuccio A, Vitale F, Iannazzo S, Boccalini S.

Epidemiol Prev. 2019 Jan-Feb;43(1):71-75. doi: 10.19191/EP19.1.P71.023. Italian.

7.

Adherence to the 2008 IHS guidelines for controlled trials of drugs for the preventive treatment of chronic migraine in adults.

Deen M, Martinelli D, Pijpers J, Diener HC, Silberstein S, Ferrari MD, Ashina M, Tassorelli C, Yuan H.

Cephalalgia. 2019 Jul;39(8):1058-1066. doi: 10.1177/0333102419847751. Epub 2019 May 1.

PMID:
31042062
8.

Local deprivation status and seasonal influenza vaccination coverage in adults ≥ 65 years residing in the Foggia municipality, Italy, 2009-2016.

Fortunato F, Iannelli G, Cozza A, Del Prete M, Pollidoro FV, Cocciardi S, DI Trani M, Martinelli D, Prato R.

J Prev Med Hyg. 2019 Feb 28;59(4 Suppl 2):E51-E64. doi: 10.15167/2421-4248/jpmh2018.59.4s2.1167. eCollection 2018 Dec.

9.

First Description of Macrolide-Resistant Mycoplasma pneumoniae in Adults with Community-Acquired Pneumonia in Italy.

Loconsole D, De Robertis AL, Mallamaci R, Sallustio A, Morea A, Prato R, Quarto M, Martinelli D, Chironna M.

Biomed Res Int. 2019 Mar 17;2019:7168949. doi: 10.1155/2019/7168949. eCollection 2019.

10.

Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision.

Häberle J, Burlina A, Chakrapani A, Dixon M, Karall D, Lindner M, Mandel H, Martinelli D, Pintos-Morell G, Santer R, Skouma A, Servais A, Tal G, Rubio V, Huemer M, Dionisi-Vici C.

J Inherit Metab Dis. 2019 Apr 14. doi: 10.1002/jimd.12100. [Epub ahead of print] Review.

PMID:
30982989
11.

Pathogenic Variants in GPC4 Cause Keipert Syndrome.

Amor DJ, Stephenson SEM, Mustapha M, Mensah MA, Ockeloen CW, Lee WS, Tankard RM, Phelan DG, Shinawi M, de Brouwer APM, Pfundt R, Dowling C, Toler TL, Sutton VR, Agolini E, Rinelli M, Capolino R, Martinelli D, Zampino G, Dumić M, Reardon W, Shaw-Smith C, Leventer RJ, Delatycki MB, Kleefstra T, Mundlos S, Mortier G, Bahlo M, Allen NJ, Lockhart PJ.

Am J Hum Genet. 2019 May 2;104(5):914-924. doi: 10.1016/j.ajhg.2019.02.026. Epub 2019 Apr 11.

PMID:
30982611
12.

Comprehensive analysis of how experimental parameters affect H2S measurements by the monobromobimane method.

Ditrói T, Nagy A, Martinelli D, Rosta A, Kožich V, Nagy P.

Free Radic Biol Med. 2019 May 20;136:146-158. doi: 10.1016/j.freeradbiomed.2019.04.006. Epub 2019 Apr 7.

PMID:
30970274
13.

Delayed tooth replantation and inflammatory root resorption in childhood and adolescence.

Spinas E, Generali L, Mameli A, Demontis C, Martinelli D, Giannetti L.

J Biol Regul Homeost Agents. 2019 Mar-Apr,;33(2):623-627.

PMID:
30945526
14.

Targeting ferroptosis: A novel therapeutic strategy for the treatment of mitochondrial disease-related epilepsy.

Kahn-Kirby AH, Amagata A, Maeder CI, Mei JJ, Sideris S, Kosaka Y, Hinman A, Malone SA, Bruegger JJ, Wang L, Kim V, Shrader WD, Hoff KG, Latham JC, Ashley EA, Wheeler MT, Bertini E, Carrozzo R, Martinelli D, Dionisi-Vici C, Chapman KA, Enns GM, Gahl W, Wolfe L, Saneto RP, Johnson SC, Trimmer JK, Klein MB, Holst CR.

PLoS One. 2019 Mar 28;14(3):e0214250. doi: 10.1371/journal.pone.0214250. eCollection 2019.

15.

Does Intraoperative Platelet-rich Plasma Improve Clinical and Structural Outcomes after Arthroscopic Repair of Isolated Tears of the Supraspinatus Tendon?

Martinelli D, Fornara P, Stecco A, Grassi FA.

Indian J Orthop. 2019 Jan-Feb;53(1):77-81. doi: 10.4103/ortho.IJOrtho_35_17.

16.
17.

Analysis of LPI-causing mutations on y+LAT1 function and localization.

Rotoli BM, Barilli A, Ingoglia F, Visigalli R, Bianchi MG, Ferrari F, Martinelli D, Dionisi-Vici C, Dall'Asta V.

Orphanet J Rare Dis. 2019 Mar 4;14(1):63. doi: 10.1186/s13023-019-1028-2.

18.

Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathy.

Verrigni D, Di Nottia M, Ardissone A, Baruffini E, Nasca A, Legati A, Bellacchio E, Fagiolari G, Martinelli D, Fusco L, Battaglia D, Trani G, Versienti G, Marchet S, Torraco A, Rizza T, Verardo M, D'Amico A, Diodato D, Moroni I, Lamperti C, Petrini S, Moggio M, Goffrini P, Ghezzi D, Carrozzo R, Bertini E.

Hum Mutat. 2019 May;40(5):601-618. doi: 10.1002/humu.23729. Epub 2019 Mar 9.

PMID:
30801875
19.

Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry.

Huemer M, Diodato D, Martinelli D, Olivieri G, Blom H, Gleich F, Kölker S, Kožich V, Morris AA, Seifert B, Froese DS, Baumgartner MR, Dionisi-Vici C; EHOD consortium, Martin CA, Baethmann M, Ballhausen D, Blasco-Alonso J, Boy N, Bueno M, Burgos Peláez R, Cerone R, Chabrol B, Chapman KA, Couce ML, Crushell E, Dalmau Serra J, Diogo L, Ficicioglu C, García Jimenez MC, García Silva MT, Gaspar AM, Gautschi M, González-Lamuño D, Gouveia S, Grünewald S, Hendriksz C, Janssen MCH, Jesina P, Koch J, Konstantopoulou V, Lavigne C, Lund AM, Martins EG, Meavilla Olivas S, Mention K, Mochel F, Mundy H, Murphy E, Paquay S, Pedrón-Giner C, Ruiz Gómez MA, Santra S, Schiff M, Schwartz IV, Scholl-Bürgi S, Servais A, Skouma A, Tran C, Vives Piñera I, Walter J, Weisfeld-Adams J.

J Inherit Metab Dis. 2019 Mar;42(2):333-352. doi: 10.1002/jimd.12041. Epub 2019 Feb 17.

PMID:
30773687
20.

Clinical, biochemical, and molecular spectrum of short/branched-chain acyl-CoA dehydrogenase deficiency: two new cases and review of literature.

Porta F, Chiesa N, Martinelli D, Spada M.

J Pediatr Endocrinol Metab. 2019 Feb 25;32(2):101-108. doi: 10.1515/jpem-2018-0311. Review.

PMID:
30730842
21.

Food-borne botulism in Apulia region, Italy: an expert witness testimony.

Fortunato F, Martinelli D, Cappelli MG, Taurisano P, Barbuti G, Quarto M, Prato R.

Ann Ig. 2019 Mar-Apr;31(2):181-185. doi: 10.7416/ai.2019.2270.

22.

Epidemiology and cost of cervical cancer care and prevention in Apulia (Italy), 2007/2016.

Bianchi FP, Gallone MS, Fortunato F, Boccalini S, Martinelli D, Prato R, Tafuri S.

Ann Ig. 2018 Nov-Dec;30(6):490-501. doi: 10.7416/ai.2018.2260.

23.

Subtrochanteric fractures: two case reports of non-union treatment.

De Biase P, Biancalani E, Martinelli D, Cambiganu A, Bianco S, Buzzi R.

Injury. 2018 Dec;49 Suppl 4:S9-S15. doi: 10.1016/j.injury.2018.11.038. Epub 2018 Dec 3.

PMID:
30526952
24.

Acute hyperammonemia in children under deferasirox treatment: cutting the Gordian knot.

Martinelli D, Goffredo BM, Falvella FS, Marano M.

Clin Toxicol (Phila). 2019 May;57(5):375-377. doi: 10.1080/15563650.2018.1523425. Epub 2018 Nov 16. No abstract available.

PMID:
30442064
25.

Functioning and quality of life in patients with neuropathy associated with anti-MAG antibodies.

Falzone YM, Campagnolo M, Bianco M, Dacci P, Martinelli D, Ruiz M, Bocci S, Cerri F, Quattrini A, Comi G, Benedetti L, Giannini F, Lauria G, Nobile-Orazio E, Briani C, Fazio R, Riva N.

J Neurol. 2018 Dec;265(12):2927-2933. doi: 10.1007/s00415-018-9081-7. Epub 2018 Oct 10.

26.

[Integrating cervical cancer screening and HPV vaccination: a pilot experience in the Apulia region of Italy].

Fortunato F, Cappelli MG, Prato R, Martinelli D; Local gatekeepers and contact points for vaccinations and screening.

Ig Sanita Pubbl. 2018 May-Jun;74(3):265-277. Italian.

PMID:
30235467
27.

Cervical cancer prevention: An Italian scenario between organised screening and human papillomaviruses vaccination.

Cappelli MG, Fortunato F, Tafuri S, Boccalini S, Bonanni P, Prato R, Martinelli D.

Eur J Cancer Care (Engl). 2018 Sep;27(5):e12905. doi: 10.1111/ecc.12905. Epub 2018 Sep 4.

28.

Axonal peripheral neuropathy in propionic acidemia: A severe side effect of long-term metronidazole therapy.

Diodato D, Olivieri G, Pro S, Maiorani D, Martinelli D, Deodato F, Taurisano R, Di Capua M, Dionisi-Vici C.

Neurology. 2018 Sep 18;91(12):565-567. doi: 10.1212/WNL.0000000000006209. Epub 2018 Aug 17. No abstract available.

PMID:
30120134
29.

ISCA1 mutation in a patient with infantile-onset leukodystrophy causes defects in mitochondrial [4Fe-4S] proteins.

Torraco A, Stehling O, Stümpfig C, Rösser R, De Rasmo D, Fiermonte G, Verrigni D, Rizza T, Vozza A, Di Nottia M, Diodato D, Martinelli D, Piemonte F, Dionisi-Vici C, Bertini E, Lill R, Carrozzo R.

Hum Mol Genet. 2018 Oct 15;27(20):3650. doi: 10.1093/hmg/ddy273. No abstract available.

PMID:
30113620
30.

Cerebrospinal Fluid-Directed rAAV9-rsATP7A Plus Subcutaneous Copper Histidinate Advance Survival and Outcomes in a Menkes Disease Mouse Model.

Haddad MR, Choi EY, Zerfas PM, Yi L, Martinelli D, Sullivan P, Goldstein DS, Centeno JA, Brinster LR, Ralle M, Kaler SG.

Mol Ther Methods Clin Dev. 2018 Jul 9;10:165-178. doi: 10.1016/j.omtm.2018.07.002. eCollection 2018 Sep 21.

31.

The use of casein in sport mouthguards: microbiological and ecological variations in oral cavity.

Tripodi D, Martinelli D, Ciaravino C, Fulco D, Tieri M, D'Ercole S.

J Biol Regul Homeost Agents. 2018 Jul-Aug;32(4):1045-1049.

PMID:
30043592
32.

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

Repp BM, Mastantuono E, Alston CL, Schiff M, Haack TB, Rötig A, Ardissone A, Lombès A, Catarino CB, Diodato D, Schottmann G, Poulton J, Burlina A, Jonckheere A, Munnich A, Rolinski B, Ghezzi D, Rokicki D, Wellesley D, Martinelli D, Wenhong D, Lamantea E, Ostergaard E, Pronicka E, Pierre G, Smeets HJM, Wittig I, Scurr I, de Coo IFM, Moroni I, Smet J, Mayr JA, Dai L, de Meirleir L, Schuelke M, Zeviani M, Morscher RJ, McFarland R, Seneca S, Klopstock T, Meitinger T, Wieland T, Strom TM, Herberg U, Ahting U, Sperl W, Nassogne MC, Ling H, Fang F, Freisinger P, Van Coster R, Strecker V, Taylor RW, Häberle J, Vockley J, Prokisch H, Wortmann S.

Orphanet J Rare Dis. 2018 Jul 19;13(1):120. doi: 10.1186/s13023-018-0784-8.

33.

Socio-emotional ability, temperament and coping strategies associated with different use of Internet in Internet addiction.

Tonioni F, Mazza M, Autullo G, Pellicano GR, Aceto P, Catalano V, Marano G, Corvino S, Martinelli D, Fiumana V, Janiri L, Lai C.

Eur Rev Med Pharmacol Sci. 2018 Jun;22(11):3461-3466. doi: 10.26355/eurrev_201806_15171.

34.

ISCA1 Mutation In A Patient With Infantile-Onset Leukodystrophy Causes Defects In Mitochondrial [4Fe-4S] Proteins.

Torraco A, Stehling O, Stümpfig C, Rösser R, De Rasmo D, Fiermonte G, Verrigni D, Rizza T, Vozza A, Di Nottia M, Diodato D, Martinelli D, Piemonte F, Dionisi-Vici C, Bertini E, Lill R, Carrozzo R.

Hum Mol Genet. 2018 May 14. doi: 10.1093/hmg/ddy183. [Epub ahead of print]

PMID:
29767723
35.

Eltrombopag-Induced Acute Liver Failure in a Pediatric Patient: A Pharmacokinetic and Pharmacogenetic Analysis.

Marano M, Serafinelli J, Cairoli S, Martinelli D, Pisani M, Palumbo G, Cefalo MG, Cecchetti C, Di Nardo M, Falvella FS, Goffredo BM.

Ther Drug Monit. 2018 Aug;40(4):386-388. doi: 10.1097/FTD.0000000000000522.

PMID:
29683873
36.

Effectiveness of the 13-valent pneumococcal conjugate vaccine against adult pneumonia in Italy: a case-control study in a 2-year prospective cohort.

Prato R, Fortunato F, Cappelli MG, Chironna M, Martinelli D.

BMJ Open. 2018 Mar 25;8(3):e019034. doi: 10.1136/bmjopen-2017-019034.

37.

Preliminary Data From the Study of Coagulative Profile of HIV Infected Individuals Suggest a Role For Point Mutations in the Gene in Protein S Deficiency in Individuals Undergoing Highly Antiretroviral Therapy.

Di Stefano M, D'Andrea G, Zoboli F, Faleo G, Fasano M, Martinelli D, Margaglione M, Santantonio TA, Fiore JR.

Open AIDS J. 2018 Feb 28;12:6-10. doi: 10.2174/1874613601812010006. eCollection 2018.

38.

The urinary organic acids profile in single large-scale mitochondrial DNA deletion disorders.

Semeraro M, Boenzi S, Carrozzo R, Diodato D, Martinelli D, Olivieri G, Antonetti G, Sacchetti E, Catesini G, Rizzo C, Dionisi-Vici C.

Clin Chim Acta. 2018 Jun;481:156-160. doi: 10.1016/j.cca.2018.03.002. Epub 2018 Mar 10.

PMID:
29534959
39.

Evaluation of measles and rubella integrated surveillance system in Apulia region, Italy, 3 years after its introduction.

Turiac IA, Fortunato F, Cappelli MG, Morea A, Chironna M, Prato R, Martinelli D.

Epidemiol Infect. 2018 Apr;146(5):594-599. doi: 10.1017/S0950268818000407. Epub 2018 Mar 13.

PMID:
29532766
40.

Using Routine Data Sources to Feed an Immunization Information System for High-Risk Patients-A Pilot Study.

Martinelli D, Fortunato F, Iannazzo S, Cappelli MG, Prato R.

Front Public Health. 2018 Feb 16;6:37. doi: 10.3389/fpubh.2018.00037. eCollection 2018.

41.

Systematic causality assessment of adverse events following HPV vaccines: Analysis of current data from Apulia region (Italy).

Tafuri S, Fortunato F, Gallone MS, Stefanizzi P, Calabrese G, Boccalini S, Martinelli D, Prato R.

Vaccine. 2018 Feb 14;36(8):1072-1077. doi: 10.1016/j.vaccine.2018.01.018. Epub 2018 Jan 19.

PMID:
29358055
42.

Parental vaccine hesitancy in Italy - Results from a national survey.

Giambi C, Fabiani M, D'Ancona F, Ferrara L, Fiacchini D, Gallo T, Martinelli D, Pascucci MG, Prato R, Filia A, Bella A, Del Manso M, Rizzo C, Rota MC.

Vaccine. 2018 Feb 1;36(6):779-787. doi: 10.1016/j.vaccine.2017.12.074. Epub 2018 Jan 8.

PMID:
29325822
43.

Cardiorespiratory events in infants with gastroesophageal reflux symptoms: Is there any association?

Cresi F, Martinelli D, Maggiora E, Locatelli E, Liguori SA, Baldassarre ME, Cocchi E, Bertino E, Coscia A.

Neurogastroenterol Motil. 2018 May;30(5):e13278. doi: 10.1111/nmo.13278. Epub 2017 Dec 21.

PMID:
29266638
44.

Peripheral vagal nerve stimulation modulates the nociceptive withdrawal reflex in healthy subjects: A randomized, cross-over, sham-controlled study.

De Icco R, Martinelli D, Bitetto V, Fresia M, Liebler E, Sandrini G, Tassorelli C.

Cephalalgia. 2018 Sep;38(10):1658-1664. doi: 10.1177/0333102417742347. Epub 2017 Nov 20.

PMID:
29154689
45.

The Vici syndrome protein EPG5 regulates intracellular nucleic acid trafficking linking autophagy to innate and adaptive immunity.

Piano Mortari E, Folgiero V, Marcellini V, Romania P, Bellacchio E, D'Alicandro V, Bocci C, Carrozzo R, Martinelli D, Petrini S, Axiotis E, Farroni C, Locatelli F, Schara U, Pilz DT, Jungbluth H, Dionisi-Vici C, Carsetti R.

Autophagy. 2018;14(1):22-37. doi: 10.1080/15548627.2017.1389356. Epub 2018 Jan 2.

46.

Impact of Haemophilus influenzae type b conjugate vaccination on hospitalization for invasive disease in children fifteen years after its introduction in Italy.

Martinelli D, Azzari C, Bonanni P, Esposito S, Franco E, Icardi G, Zuccotti G, Prato R.

Vaccine. 2017 Nov 1;35(46):6297-6301. doi: 10.1016/j.vaccine.2017.09.077. Epub 2017 Oct 5.

47.

Botulinum toxin for chronic migraine: Clinical trials and technical aspects.

Tassorelli C, Sances G, Avenali M, De Icco R, Martinelli D, Bitetto V, Nappi G, Sandrini G.

Toxicon. 2018 Jun 1;147:111-115. doi: 10.1016/j.toxicon.2017.08.026. Epub 2017 Sep 4. Review.

PMID:
28877509
48.

The use of chlorhexidine in mouthguards.

D'Ercole S, Tieri M, Fulco D, Martinelli D, Tripodi D.

J Biol Regul Homeost Agents. 2017 Apr-Jun;31(2):487-493.

PMID:
28685557
49.

Correlation between knowledge on transmission and prevention of HIV/STI and proficiency in condom use among male migrants from Africa and Middle East evaluated by a Condom Use Skills score using a wooden penile model.

Zoboli F, Martinelli D, Di Stefano M, Fasano M, Prato R, Santantonio TA, Fiore JR.

BMC Res Notes. 2017 Jun 19;10(1):216. doi: 10.1186/s13104-017-2520-1.

50.

Temporal trends in herpes zoster-related hospitalizations in Italy, 2001-2013: differences between regions that have or have not implemented varicella vaccination.

Valente N, Cocchio S, Stefanati A, Baldovin T, Martinelli D, Prato R, Baldo V, Gabutti G.

Aging Clin Exp Res. 2017 Aug;29(4):771-779. doi: 10.1007/s40520-017-0782-z. Epub 2017 Jun 12.

PMID:
28608255

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