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Results: 1 to 20 of 195

1.

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.

Kölker S, Valayannopoulos V, Burlina AB, Sykut-Cegielska J, Wijburg FA, Teles EL, Zeman J, Dionisi-Vici C, Barić I, Karall D, Arnoux JB, Avram P, Baumgartner MR, Blasco-Alonso J, Boy SP, Rasmussen MB, Burgard P, Chabrol B, Chakrapani A, Chapman K, Cortès I Saladelafont E, Couce ML, de Meirleir L, Dobbelaere D, Furlan F, Gleich F, González MJ, Gradowska W, Grünewald S, Honzik T, Hörster F, Ioannou H, Jalan A, Häberle J, Haege G, Langereis E, de Lonlay P, Martinelli D, Matsumoto S, Mühlhausen C, Murphy E, de Baulny HO, Ortez C, Pedrón CC, Pintos-Morell G, Pena-Quintana L, Ramadža DP, Rodrigues E, Scholl-Bürgi S, Sokal E, Summar ML, Thompson N, Vara R, Pinera IV, Walter JH, Williams M, Lund AM, Cazorla AG.

J Inherit Metab Dis. 2015 Apr 15. [Epub ahead of print]

PMID:
25875216
2.

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation.

Kölker S, Cazorla AG, Valayannopoulos V, Lund AM, Burlina AB, Sykut-Cegielska J, Wijburg FA, Teles EL, Zeman J, Dionisi-Vici C, Barić I, Karall D, Augoustides-Savvopoulou P, Aksglaede L, Arnoux JB, Avram P, Baumgartner MR, Blasco-Alonso J, Chabrol B, Chakrapani A, Chapman K, I Saladelafont EC, Couce ML, de Meirleir L, Dobbelaere D, Dvorakova V, Furlan F, Gleich F, Gradowska W, Grünewald S, Jalan A, Häberle J, Haege G, Lachmann R, Laemmle A, Langereis E, de Lonlay P, Martinelli D, Matsumoto S, Mühlhausen C, de Baulny HO, Ortez C, Peña-Quintana L, Ramadža DP, Rodrigues E, Scholl-Bürgi S, Sokal E, Staufner C, Summar ML, Thompson N, Vara R, Pinera IV, Walter JH, Williams M, Burgard P.

J Inherit Metab Dis. 2015 Apr 15. [Epub ahead of print]

PMID:
25875215
3.

The hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.

Martinelli D, Diodato D, Ponzi E, Monné M, Boenzi S, Bertini E, Fiermonte G, Dionisi-Vici C.

Orphanet J Rare Dis. 2015 Mar 11;10(1):29. doi: 10.1186/s13023-015-0242-9.

4.

Comparison of salivary antioxidant enzyme activity between ex-smokers and subjects who had never smoked.

Giuca MR, Pasini M, D'Ercole S, Martinelli D, Tripodi D, Spinas E.

J Biol Regul Homeost Agents. 2015 Jan-Mar;29(1):239-43.

PMID:
25864765
5.

MRI signatures of the frontotemporal lobar degeneration continuum.

Agosta F, Galantucci S, Magnani G, Marcone A, Martinelli D, Antonietta Volontè M, Riva N, Iannaccone S, Ferraro PM, Caso F, Chiò A, Comi G, Falini A, Filippi M.

Hum Brain Mapp. 2015 Mar 28. doi: 10.1002/hbm.22794. [Epub ahead of print]

PMID:
25821176
6.

A/H1N1 pandemic influenza vaccination: A retrospective evaluation of adverse maternal, fetal and neonatal outcomes in a cohort of pregnant women in Italy.

Fabiani M, Bella A, Rota MC, Clagnan E, Gallo T, D'Amato M, Pezzotti P, Ferrara L, Demicheli V, Martinelli D, Prato R, Rizzo C.

Vaccine. 2015 May 5;33(19):2240-7. doi: 10.1016/j.vaccine.2015.03.041. Epub 2015 Mar 26.

PMID:
25820060
7.

Hepatitis E in hemodialysis and kidney transplant patients in south-east Italy.

Scotto G, Aucella F, Grandaliano G, Martinelli D, Querques M, Gesuete A, Infante B, Carri PD, Massa S, Salatino G, Bulla F, Fazio V.

World J Gastroenterol. 2015 Mar 21;21(11):3266-73. doi: 10.3748/wjg.v21.i11.3266.

8.

Erratum to: TMEM70 deficiency: long-term outcome of 48 patients.

Magner M, Dvorakova V, Tesarova M, Mazurova S, Hansikova H, Zahorec M, Brennerova K, Bzduch V, Spiegel R, Horovitz Y, Mandel H, Eminoğlu FT, Mayr JA, Koch J, Martinelli D, Bertini E, Konstantopoulou V, Smet J, Rahman S, Broomfield A, Stojanović V, Dionisi-Vici C, van Coster R, Morava E, Sperl W, Zeman J, Honzik T.

J Inherit Metab Dis. 2015 Mar 17. [Epub ahead of print] No abstract available.

PMID:
25778942
9.

Structures of C1q-like Proteins Reveal Unique Features among the C1q/TNF Superfamily.

Ressl S, Vu BK, Vivona S, Martinelli DC, Südhof TC, Brunger AT.

Structure. 2015 Apr 7;23(4):688-99. doi: 10.1016/j.str.2015.01.019. Epub 2015 Mar 5.

PMID:
25752542
10.

International Union of Basic and Clinical Pharmacology. XCIV. Adhesion G protein-coupled receptors.

Hamann J, Aust G, Araç D, Engel FB, Formstone C, Fredriksson R, Hall RA, Harty BL, Kirchhoff C, Knapp B, Krishnan A, Liebscher I, Lin HH, Martinelli DC, Monk KR, Peeters MC, Piao X, Prömel S, Schöneberg T, Schwartz TW, Singer K, Stacey M, Ushkaryov YA, Vallon M, Wolfrum U, Wright MW, Xu L, Langenhan T, Schiöth HB.

Pharmacol Rev. 2015 Apr;67(2):338-67. doi: 10.1124/pr.114.009647.

PMID:
25713288
11.

COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency.

Brea-Calvo G, Haack TB, Karall D, Ohtake A, Invernizzi F, Carrozzo R, Kremer L, Dusi S, Fauth C, Scholl-Bürgi S, Graf E, Ahting U, Resta N, Laforgia N, Verrigni D, Okazaki Y, Kohda M, Martinelli D, Freisinger P, Strom TM, Meitinger T, Lamperti C, Lacson A, Navas P, Mayr JA, Bertini E, Murayama K, Zeviani M, Prokisch H, Ghezzi D.

Am J Hum Genet. 2015 Feb 5;96(2):309-17. doi: 10.1016/j.ajhg.2014.12.023.

PMID:
25658047
12.

The proteome of cblC defect: in vivo elucidation of altered cellular pathways in humans.

Caterino M, Pastore A, Strozziero MG, Di Giovamberardino G, Imperlini E, Scolamiero E, Ingenito L, Boenzi S, Ceravolo F, Martinelli D, Dionisi-Vici C, Ruoppolo M.

J Inherit Metab Dis. 2015 Jan 14. [Epub ahead of print]

PMID:
25585586
13.

Gas1 is a receptor for sonic hedgehog to repel enteric axons.

Jin S, Martinelli DC, Zheng X, Tessier-Lavigne M, Fan CM.

Proc Natl Acad Sci U S A. 2015 Jan 6;112(1):E73-80. doi: 10.1073/pnas.1418629112. Epub 2014 Dec 22.

14.

Further efforts in the achievement of congenital rubella syndrome/rubella elimination.

Cozza V, Martinelli D, Cappelli MG, Tafuri S, Fortunato F, Prato R.

Hum Vaccin Immunother. 2015;11(1):220-4. doi: 10.4161/hv.36154. Epub 2014 Nov 1.

PMID:
25483539
15.

Effectiveness of vaccination against varicella in children under 5 years in Puglia, Italy 2006-2012.

Tafuri S, Fortunato F, Cappelli MG, Cozza V, Bechini A, Bonanni P, Martinelli D, Prato R.

Hum Vaccin Immunother. 2015;11(1):214-9. doi: 10.4161/hv.36153. Epub 2014 Nov 1.

PMID:
25483538
16.

Are we ready to abrogate compulsory vaccinations for children?

Martinelli D, Tafuri S, Fortunato F, Cozza V, Germinario CA, Prato R.

Hum Vaccin Immunother. 2015;11(1):146-9. doi: 10.4161/hv.34417. Epub 2014 Nov 1.

PMID:
25483528
17.

Low vaccination coverage among italian healthcare workers in 2013.

Fortunato F, Tafuri S, Cozza V, Martinelli D, Prato R.

Hum Vaccin Immunother. 2015;11(1):133-9. doi: 10.4161/hv.34415. Epub 2014 Nov 1.

PMID:
25483526
18.

Impact of universal vaccination against varicella in Italy.

Bechini A, Boccalini S, Baldo V, Cocchio S, Castiglia P, Gallo T, Giuffrida S, Locuratolo F, Tafuri S, Martinelli D, Prato R, Amodio E, Vitale F, Bonanni P.

Hum Vaccin Immunother. 2015;11(1):63-71. doi: 10.4161/hv.34311. Epub 2014 Nov 1.

PMID:
25483517
19.

Thompson calf squeezing test: clinical and ultrasound correlations in the follow up of Achille's tenorraphy.

Leigheb M, Conte P, Neri P, Zorzolo I, Martinelli D, Martino F, Carriero A, Grassi F.

Acta Biomed. 2014 Sep 24;85(2):102-6.

PMID:
25409728
20.

A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation.

Barone R, Carrozzi M, Parini R, Battini R, Martinelli D, Elia M, Spada M, Lilliu F, Ciana G, Burlina A, Leuzzi V, Leoni M, Sturiale L, Matthijs G, Jaeken J, Di Rocco M, Garozzo D, Fiumara A.

J Neurol. 2015 Jan;262(1):154-64. doi: 10.1007/s00415-014-7549-7. Epub 2014 Oct 30.

PMID:
25355454
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