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Items: 1 to 20 of 127

1.

Management of the first episode of traumatic shoulder dislocation.

Boffano M, Mortera S, Piana R.

EFORT Open Rev. 2017 Mar 13;2(2):35-40. doi: 10.1302/2058-5241.2.160018. eCollection 2017 Feb. Review.

2.

4H Leukodystrophy: A Brain Magnetic Resonance Imaging Scoring System.

Vrij-van den Bos S, Hol JA, La Piana R, Harting I, Vanderver A, Barkhof F, Cayami F, van Wieringen WN, Pouwels PJ, van der Knaap MS, Bernard G, Wolf NI.

Neuropediatrics. 2017 Mar 1. doi: 10.1055/s-0037-1599141. [Epub ahead of print]

PMID:
28249300
3.

Identification and functional characterization of a novel MTFMT mutation associated with selective vulnerability of the visual pathway and a mild neurological phenotype.

La Piana R, Weraarpachai W, Ospina LH, Tetreault M, Majewski J; Care4Rare Canada Consortium., Bruce Pike G, Decarie JC, Tampieri D, Brais B, Shoubridge EA.

Neurogenetics. 2017 Apr;18(2):97-103. doi: 10.1007/s10048-016-0506-0. Epub 2017 Jan 5.

PMID:
28058511
4.

Adipose Derived-Mesenchymal Stem Cells Viability and Differentiating Features for Orthopaedic Reparative Applications: Banking of Adipose Tissue.

Roato I, Alotto D, Belisario DC, Casarin S, Fumagalli M, Cambieri I, Piana R, Stella M, Ferracini R, Castagnoli C.

Stem Cells Int. 2016;2016:4968724. doi: 10.1155/2016/4968724. Epub 2016 Nov 29.

5.

The Rationale for Performance of Coronary Angiography and Stenting Before Transcatheter Aortic Valve Replacement: From the Interventional Section Leadership Council of the American College of Cardiology.

Ramee S, Anwaruddin S, Kumar G, Piana RN, Babaliaros V, Rab T, Klein LW; Aortic Stenosis AUC Writing Group.; Interventional Section of the Leadership Council of the American College of Cardiology..

JACC Cardiovasc Interv. 2016 Dec 12;9(23):2371-2375. doi: 10.1016/j.jcin.2016.09.024. Review.

PMID:
27931592
6.

Diffuse hypomyelination is not obligate for POLR3-related disorders.

La Piana R, Cayami FK, Tran LT, Guerrero K, van Spaendonk R, Õunap K, Pajusalu S, Haack T, Wassmer E, Timmann D, Mierzewska H, Poll-Thé BT, Patel C, Cox H, Atik T, Onay H, Ozkınay F, Vanderver A, van der Knaap MS, Wolf NI, Bernard G.

Neurology. 2016 Apr 26;86(17):1622-6. doi: 10.1212/WNL.0000000000002612. Epub 2016 Mar 30.

7.

Mutations in GALC cause late-onset Krabbe disease with predominant cerebellar ataxia.

Shao YH, Choquet K, La Piana R, Tétreault M, Dicaire MJ; Care4Rare Canada Consortium., Boycott KM, Majewski J, Brais B.

Neurogenetics. 2016 Apr;17(2):137-41. doi: 10.1007/s10048-016-0476-2. Epub 2016 Feb 26.

PMID:
26915362
8.

Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA.

Choquet K, Zurita-Rendón O, La Piana R, Yang S, Dicaire MJ; Care4Rare Consortium., Boycott KM, Majewski J, Shoubridge EA, Brais B, Tétreault M.

Brain. 2016 Mar;139(Pt 3):e19. doi: 10.1093/brain/awv362. Epub 2015 Dec 10. No abstract available.

PMID:
26657514
9.

SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases.

Choquet K, Tétreault M, Yang S, La Piana R, Dicaire MJ, Vanstone MR, Mathieu J, Bouchard JP, Rioux MF, Rouleau GA; Care4Rare Canada Consortium., Boycott KM, Majewski J, Brais B.

Eur J Hum Genet. 2016 Jul;24(7):1016-21. doi: 10.1038/ejhg.2015.240. Epub 2015 Dec 2.

PMID:
26626314
10.

Neuroradiologic patterns and novel imaging findings in Aicardi-Goutières syndrome.

La Piana R, Uggetti C, Roncarolo F, Vanderver A, Olivieri I, Tonduti D, Helman G, Balottin U, Fazzi E, Crow YJ, Livingston J, Orcesi S.

Neurology. 2016 Jan 5;86(1):28-35. doi: 10.1212/WNL.0000000000002228. Epub 2015 Nov 18.

11.

Accuracy and role of contrast-enhanced CT in diagnosis and surgical planning in 88 soft tissue tumours of extremities.

Verga L, Brach Del Prever EM, Linari A, Robiati S, De Marchi A, Martorano D, Boffano M, Piana R, Faletti C.

Eur Radiol. 2016 Jul;26(7):2400-8. doi: 10.1007/s00330-015-4047-y. Epub 2015 Oct 8.

PMID:
26449561
12.

Novel SIL1 mutations cause cerebellar ataxia and atrophy in a French-Canadian family.

Noreau A, La Piana R, Marcoux C; FORGE Canada., Dion PA, Brais B, Bernard G, Rouleau GA.

Neurogenetics. 2015 Oct;16(4):315-8. doi: 10.1007/s10048-015-0455-z. Epub 2015 Aug 11.

PMID:
26260654
13.

Lessons Learned in Cancer Care Communication.

Piana R.

J Adv Pract Oncol. 2014 Jul-Aug;5(4):301. Review. No abstract available.

14.

Index Finger Pollicization for Functional Preservation of the Hand After Giant Liposarcoma Resection of the Thenar Eminence.

Tos P, Piana R, Boux E, Colzani G, Artiaco S.

J Hand Microsurg. 2015 Jun;7(1):216-9. doi: 10.1007/s12593-014-0169-8. Epub 2015 Jan 9. No abstract available.

15.

POLR3A and POLR3B Mutations in Unclassified Hypomyelination.

Cayami FK, La Piana R, van Spaendonk RM, Nickel M, Bley A, Guerrero K, Tran LT, van der Knaap MS, Bernard G, Wolf NI.

Neuropediatrics. 2015 Jun;46(3):221-8. doi: 10.1055/s-0035-1550148. Epub 2015 May 8.

PMID:
26011300
16.

How do we estimate survival? External validation of a tool for survival estimation in patients with metastatic bone disease-decision analysis and comparison of three international patient populations.

Piccioli A, Spinelli MS, Forsberg JA, Wedin R, Healey JH, Ippolito V, Daolio PA, Ruggieri P, Maccauro G, Gasbarrini A, Biagini R, Piana R, Fazioli F, Luzzati A, Di Martino A, Nicolosi F, Camnasio F, Rosa MA, Campanacci DA, Denaro V, Capanna R.

BMC Cancer. 2015 May 22;15:424. doi: 10.1186/s12885-015-1396-5.

17.

Midfoot reconstruction with serratus anterior-rib osteomuscular free flap following oncological resection of synovial sarcoma.

Battiston B, Artiaco S, Piana R, Boux E, Tos P.

J Orthop Traumatol. 2015 Dec;16(4):347-50. doi: 10.1007/s10195-015-0341-3. Epub 2015 Apr 3.

18.

Paediatric arterial ischaemic stroke and cerebral sinovenous thrombosis. First report from the Italian Registry of Pediatric Thrombosis (R. I. T. I., Registro Italiano Trombosi Infantili).

Suppiej A, Gentilomo C, Saracco P, Sartori S, Agostini M, Bagna R, Bassi B, Giordano P, Grassi M, Guzzetta A, Lasagni D, Luciani M, Molinari AC, Palmieri A, Putti MC, Ramenghi LA, Rota LL, Sperlì D, Laverda AM, Simioni P; Stroke working group of the Italian Registry of Pediatric Thrombosis..

Thromb Haemost. 2015 Jun;113(6):1270-7. doi: 10.1160/TH14-05-0431. Epub 2015 Mar 12.

PMID:
25761414
19.

Response to letter regarding article, "The learning curve for transradial percutaneous coronary intervention among operators in the United States: a study from the National Cardiovascular Data Registry".

Hess CN, Peterson ED, Neely ML, Dai D, Hillegass WB, Krucoff MW, Kutcher MA, Messenger JC, Pancholy S, Piana RN, Rao SV.

Circulation. 2015 Feb 24;131(8):e358. doi: 10.1161/CIRCULATIONAHA.114.013278. No abstract available.

20.

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

Crow YJ, Chase DS, Lowenstein Schmidt J, Szynkiewicz M, Forte GM, Gornall HL, Oojageer A, Anderson B, Pizzino A, Helman G, Abdel-Hamid MS, Abdel-Salam GM, Ackroyd S, Aeby A, Agosta G, Albin C, Allon-Shalev S, Arellano M, Ariaudo G, Aswani V, Babul-Hirji R, Baildam EM, Bahi-Buisson N, Bailey KM, Barnerias C, Barth M, Battini R, Beresford MW, Bernard G, Bianchi M, Billette de Villemeur T, Blair EM, Bloom M, Burlina AB, Carpanelli ML, Carvalho DR, Castro-Gago M, Cavallini A, Cereda C, Chandler KE, Chitayat DA, Collins AE, Sierra Corcoles C, Cordeiro NJ, Crichiutti G, Dabydeen L, Dale RC, D'Arrigo S, De Goede CG, De Laet C, De Waele LM, Denzler I, Desguerre I, Devriendt K, Di Rocco M, Fahey MC, Fazzi E, Ferrie CD, Figueiredo A, Gener B, Goizet C, Gowrinathan NR, Gowrishankar K, Hanrahan D, Isidor B, Kara B, Khan N, King MD, Kirk EP, Kumar R, Lagae L, Landrieu P, Lauffer H, Laugel V, La Piana R, Lim MJ, Lin JP, Linnankivi T, Mackay MT, Marom DR, Marques Lourenço C, McKee SA, Moroni I, Morton JE, Moutard ML, Murray K, Nabbout R, Nampoothiri S, Nunez-Enamorado N, Oades PJ, Olivieri I, Ostergaard JR, Pérez-Dueñas B, Prendiville JS, Ramesh V, Rasmussen M, Régal L, Ricci F, Rio M, Rodriguez D, Roubertie A, Salvatici E, Segers KA, Sinha GP, Soler D, Spiegel R, Stödberg TI, Straussberg R, Swoboda KJ, Suri M, Tacke U, Tan TY, te Water Naude J, Wee Teik K, Thomas MM, Till M, Tonduti D, Valente EM, Van Coster RN, van der Knaap MS, Vassallo G, Vijzelaar R, Vogt J, Wallace GB, Wassmer E, Webb HJ, Whitehouse WP, Whitney RN, Zaki MS, Zuberi SM, Livingston JH, Rozenberg F, Lebon P, Vanderver A, Orcesi S, Rice GI.

Am J Med Genet A. 2015 Feb;167A(2):296-312. doi: 10.1002/ajmg.a.36887. Epub 2015 Jan 16.

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