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Items: 1 to 50 of 159

1.

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders.

Guo H, Bettella E, Marcogliese PC, Zhao R, Andrews JC, Nowakowski TJ, Gillentine MA, Hoekzema K, Wang T, Wu H, Jangam S, Liu C, Ni H, Willemsen MH, van Bon BW, Rinne T, Stevens SJC, Kleefstra T, Brunner HG, Yntema HG, Long M, Zhao W, Hu Z, Colson C, Richard N, Schwartz CE, Romano C, Castiglia L, Bottitta M, Dhar SU, Erwin DJ, Emrick L, Keren B, Afenjar A, Zhu B, Bai B, Stankiewicz P, Herman K; University of Washington Center for Mendelian Genomics, Mercimek-Andrews S, Juusola J, Wilfert AB, Abou Jamra R, Büttner B, Mefford HC, Muir AM, Scheffer IE, Regan BM, Malone S, Gecz J, Cobben J, Weiss MM, Waisfisz Q, Bijlsma EK, Hoffer MJV, Ruivenkamp CAL, Sartori S, Xia F, Rosenfeld JA, Bernier RA, Wangler MF, Yamamoto S, Xia K, Stegmann APA, Bellen HJ, Murgia A, Eichler EE.

Nat Commun. 2019 Oct 15;10(1):4679. doi: 10.1038/s41467-019-12435-8.

2.

FOCUS trial: results, potentialities and limits.

Saba L, Balestrieri A, Serra A, Garau R, Politi C, Lucatelli P, Murgia A, Suri JS, Mannelli L.

Ann Transl Med. 2019 Jul;7(Suppl 3):S152. doi: 10.21037/atm.2019.06.37. No abstract available.

3.

Users' and therapists' perceptions of myoelectric multi-function upper limb prostheses with conventional and pattern recognition control.

Franzke AW, Kristoffersen MB, Bongers RM, Murgia A, Pobatschnig B, Unglaube F, van der Sluis CK.

PLoS One. 2019 Aug 29;14(8):e0220899. doi: 10.1371/journal.pone.0220899. eCollection 2019.

4.

The Effect of Feedback During Training Sessions on Learning Pattern-Recognition-Based Prosthesis Control.

Kristoffersen MB, Franzke AW, van der Sluis CK, Murgia A, Bongers RM.

IEEE Trans Neural Syst Rehabil Eng. 2019 Oct;27(10):2087-2096. doi: 10.1109/TNSRE.2019.2929917. Epub 2019 Aug 20.

PMID:
31443031
5.

Concise Review: Challenges in Clinical Development of Mesenchymal Stromal/Stem Cells.

Mastrolia I, Foppiani EM, Murgia A, Candini O, Samarelli AV, Grisendi G, Veronesi E, Horwitz EM, Dominici M.

Stem Cells Transl Med. 2019 Jul 16. doi: 10.1002/sctm.19-0044. [Epub ahead of print] Review.

6.

Superficial Shoulder Muscle Synergy Analysis in Facioscapulohumeral Dystrophy During Humeral Elevation Tasks.

Essers JMN, Peters A, Meijer K, Peters K, Murgia A.

IEEE Trans Neural Syst Rehabil Eng. 2019 Aug;27(8):1556-1565. doi: 10.1109/TNSRE.2019.2927765. Epub 2019 Jul 10.

PMID:
31295115
7.

Dissecting the Pharmacodynamics and Pharmacokinetics of MSCs to Overcome Limitations in Their Clinical Translation.

Salvadori M, Cesari N, Murgia A, Puccini P, Riccardi B, Dominici M.

Mol Ther Methods Clin Dev. 2019 May 17;14:1-15. doi: 10.1016/j.omtm.2019.05.004. eCollection 2019 Sep 13. Review.

8.

Characterization of intellectual disability and autism comorbidity through gene panel sequencing.

Aspromonte MC, Bellini M, Gasparini A, Carraro M, Bettella E, Polli R, Cesca F, Bigoni S, Boni S, Carlet O, Negrin S, Mammi I, Milani D, Peron A, Sartori S, Toldo I, Soli F, Turolla L, Stanzial F, Benedicenti F, Marino-Buslje C, Tosatto SCE, Murgia A, Leonardi E.

Hum Mutat. 2019 Sep;40(9):1346-1363. doi: 10.1002/humu.23822. Epub 2019 Aug 2.

PMID:
31209962
9.

Assessment of patient clinical descriptions and pathogenic variants from gene panel sequences in the CAGI-5 intellectual disability challenge.

Carraro M, Monzon AM, Chiricosta L, Reggiani F, Aspromonte MC, Bellini M, Pagel K, Jiang Y, Radivojac P, Kundu K, Pal LR, Yin Y, Limongelli I, Andreoletti G, Moult J, Wilson SJ, Katsonis P, Lichtarge O, Chen J, Wang Y, Hu Z, Brenner SE, Ferrari C, Murgia A, Tosatto SCE, Leonardi E.

Hum Mutat. 2019 Sep;40(9):1330-1345. doi: 10.1002/humu.23823. Epub 2019 Jul 3.

PMID:
31144778
10.

A gas chromatography-mass spectrometry untargeted metabolomics approach to discriminate Fiore Sardo cheese produced from raw or thermized ovine milk.

Caboni P, Maxia D, Scano P, Addis M, Dedola A, Pes M, Murgia A, Casula M, Profumo A, Pirisi A.

J Dairy Sci. 2019 Jun;102(6):5005-5018. doi: 10.3168/jds.2018-15885. Epub 2019 Apr 17.

PMID:
31005329
11.

Combination of transfemoral balloon-assisted tracking and the knuckle wire technique as a solution in a challenging urgent percutaneous coronary intervention.

Talanas G, Corda G, Siciliano R, Murgia A, Parodi G.

J Cardiovasc Med (Hagerstown). 2019 Jul;20(7):493-494. doi: 10.2459/JCM.0000000000000801. No abstract available.

PMID:
30950983
12.

Impact of HOXB7 overexpression on human adipose-derived mesenchymal progenitors.

Foppiani EM, Candini O, Mastrolia I, Murgia A, Grisendi G, Samarelli AV, Boscaini G, Pacchioni L, Pinelli M, De Santis G, Horwitz EM, Veronesi E, Dominici M.

Stem Cell Res Ther. 2019 Mar 19;10(1):101. doi: 10.1186/s13287-019-1200-6.

13.

A metabolomics comparison between sheep's and goat's milk.

Caboni P, Murgia A, Porcu A, Manis C, Ibba I, Contu M, Scano P.

Food Res Int. 2019 May;119:869-875. doi: 10.1016/j.foodres.2018.10.071. Epub 2018 Oct 26.

PMID:
30884727
14.

Italian cohort of patients affected by inflammatory bowel disease is characterised by variation in glycerophospholipid, free fatty acids and amino acid levels.

Murgia A, Hinz C, Liggi S, Denes J, Hall Z, West J, Santoru ML, Piras C, Manis C, Usai P, Atzori L, Griffin JL, Caboni P.

Metabolomics. 2018 Oct 10;14(10):140. doi: 10.1007/s11306-018-1439-4.

PMID:
30830399
15.

Soluble TRAIL Armed Human MSC As Gene Therapy For Pancreatic Cancer.

Spano C, Grisendi G, Golinelli G, Rossignoli F, Prapa M, Bestagno M, Candini O, Petrachi T, Recchia A, Miselli F, Rovesti G, Orsi G, Maiorana A, Manni P, Veronesi E, Piccinno MS, Murgia A, Pinelli M, Horwitz EM, Cascinu S, Conte P, Dominici M.

Sci Rep. 2019 Feb 11;9(1):1788. doi: 10.1038/s41598-018-37433-6.

16.

Mavoglurant in Fragile X Syndrome: Results of two open-label, extension trials in adults and adolescents.

Hagerman R, Jacquemont S, Berry-Kravis E, Des Portes V, Stanfield A, Koumaras B, Rosenkranz G, Murgia A, Wolf C, Apostol G, von Raison F.

Sci Rep. 2018 Nov 19;8(1):16970. doi: 10.1038/s41598-018-34978-4.

17.

Advanced Age Redistributes Positive but Not Negative Leg Joint Work during Walking.

Waanders JB, Hortobágyi T, Murgia A, Devita P, Franz JR.

Med Sci Sports Exerc. 2019 Apr;51(4):615-623. doi: 10.1249/MSS.0000000000001828.

18.

Effects of age and sex on shoulder biomechanics and relative effort during functional tasks.

Murgia A, Hortobágyi T, Wijnen A, Bruin L, Diercks R, Dekker R.

J Biomech. 2018 Nov 16;81:132-139. doi: 10.1016/j.jbiomech.2018.10.001. Epub 2018 Oct 15.

PMID:
30392527
19.

Volumetric image-guided conformal radiotherapy for localized prostate cancer: Analysis of dosimetric and clinical factors affecting acute and late toxicity.

Ingrosso G, Carosi A, Cristino DD, Ponti E, Lancia A, Bottero M, Cancelli A, Murgia A, Turturici I, Santoni R.

Rep Pract Oncol Radiother. 2018 Sep-Oct;23(5):315-321. doi: 10.1016/j.rpor.2018.07.010. Epub 2018 Aug 13.

20.

Brain malformations associated to Aldh7a1 gene mutations: Report of a novel homozygous mutation and literature review.

Toldo I, Bonardi CM, Bettella E, Polli R, Talenti G, Burlina A, Sartori S, Murgia A.

Eur J Paediatr Neurol. 2018 Nov;22(6):1042-1053. doi: 10.1016/j.ejpn.2018.06.010. Epub 2018 Jul 3. Review.

PMID:
30005813
21.

The Stabilizing Function of Superficial Shoulder Muscles Changes Between Single-Plane Elevation and Reaching Tasks.

Ameln DJD, Chadwick EK, Blana D, Murgia A.

IEEE Trans Biomed Eng. 2019 Feb;66(2):564-572. doi: 10.1109/TBME.2018.2850522. Epub 2018 Jun 25.

PMID:
29993505
22.

Rhinencephalon changes in tuberous sclerosis complex.

Manara R, Brotto D, Bugin S, Pelizza MF, Sartori S, Nosadini M, Azzolini S, Iaconetta G, Parazzini C, Murgia A, Peron A, Canevini P, Labriola F, Vignoli A, Toldo I.

Neuroradiology. 2018 Aug;60(8):813-820. doi: 10.1007/s00234-018-2045-x. Epub 2018 Jun 17.

PMID:
29909560
23.

Author Correction: Cross sectional evaluation of the gut-microbiome metabolome axis in an Italian cohort of IBD patients.

Santoru ML, Piras C, Murgia A, Palmas V, Camboni T, Liggi S, Ibba I, Lai MA, Orrù S, Blois S, Loizedda AL, Griffin JL, Usai P, Caboni P, Atzori L, Manzin A.

Sci Rep. 2018 Mar 19;8(1):4993. doi: 10.1038/s41598-018-23330-5.

24.

[Accurate compiling of the hospital discharge records according to clinicians' perception: critical issues and perspectives].

Mereu A, Frau S, Murgia A, Sotgiu A, Lai A, Pisano F, Marongiu F, Portoghese I, Pinna L, Lepori E, Origa P, Azara A, Castiglia P, Solinas MG, Porcheddu S, Saderi L, Argiolas F, Murtas S, Murru MG, Faedda MR, Corriga AM, Mereu NM, Spada L, Sechi GM, Massa F, Accalai S, Sanna F, Bellu C, Campagna M, Prasciolu S, Aresu C, Pedron M, Pes MA, Pisone E, Pezzi E, Contu P, Sardu C.

Epidemiol Prev. 2018 Jan-Feb;42(1):34-39. doi: 10.19191/EP18.1.P034.013. Italian.

25.

Clinical and pathological factors influencing survival in a large cohort of triple-negative breast cancer patients.

Urru SAM, Gallus S, Bosetti C, Moi T, Medda R, Sollai E, Murgia A, Sanges F, Pira G, Manca A, Palmas D, Floris M, Asunis AM, Atzori F, Carru C, D'Incalci M, Ghiani M, Marras V, Onnis D, Santona MC, Sarobba G, Valle E, Canu L, Cossu S, Bulfone A, Rocca PC, De Miglio MR, Orrù S.

BMC Cancer. 2018 Jan 8;18(1):56. doi: 10.1186/s12885-017-3969-y.

26.

A novel mutation of the EYA4 gene associated with post-lingual hearing loss in a proband is co-segregating with a novel PAX3 mutation in two congenitally deaf family members.

Cesca F, Bettella E, Polli R, Cama E, Scimemi P, Santarelli R, Murgia A.

Int J Pediatr Otorhinolaryngol. 2018 Jan;104:88-93. doi: 10.1016/j.ijporl.2017.10.042. Epub 2017 Oct 31.

PMID:
29287889
27.

CNTNAP2 mutations and autosomal dominant epilepsy with auditory features.

Leonardi E, Dazzo E, Aspromonte MC, Tabaro F, Pascarelli S, Tosatto SCE, Michelucci R, Murgia A, Nobile C.

Epilepsy Res. 2018 Jan;139:51-53. doi: 10.1016/j.eplepsyres.2017.11.006. Epub 2017 Nov 21.

PMID:
29179159
28.

Pyridoxine-dependent epilepsies: an observational study on clinical, diagnostic, therapeutic and prognostic features in a pediatric cohort.

Falsaperla R, Vari MS, Toldo I, Murgia A, Sartori S, Vecchi M, Suppiej A, Burlina A, Mastrangelo M, Leuzzi V, Marchiani V, De Liso P, Capovilla G, Striano P, Vitaliti G; Italian Society of Pediatric Neurology (SINP: Società Italiana di Neurologia Pediatrica).

Metab Brain Dis. 2018 Feb;33(1):261-269. doi: 10.1007/s11011-017-0150-x. Epub 2017 Nov 25.

PMID:
29178011
29.

A GC-MS untargeted metabolomics analysis in the plasma and liver of rats lacking dipeptidyl-peptidase type IV enzyme activity.

Murgia A, Caboni P, Cadoni E, Serra M, Marongiu F, Laconi E.

J Physiol Biochem. 2017 Nov;73(4):575-582. doi: 10.1007/s13105-017-0588-7. Epub 2017 Sep 11.

PMID:
28895067
30.

Cross sectional evaluation of the gut-microbiome metabolome axis in an Italian cohort of IBD patients.

Santoru ML, Piras C, Murgia A, Palmas V, Camboni T, Liggi S, Ibba I, Lai MA, Orrù S, Blois S, Loizedda AL, Griffin JL, Usai P, Caboni P, Atzori L, Manzin A.

Sci Rep. 2017 Aug 25;7(1):9523. doi: 10.1038/s41598-017-10034-5. Erratum in: Sci Rep. 2018 Mar 19;8(1):4993.

31.

Oligometastatic cancer: stereotactic ablative radiotherapy for patients affected by isolated body metastasis.

Lancia A, Ingrosso G, Carosi A, Di Murro L, Giudice E, Cicchetti S, Morelli P, di Cristino D, Bruni C, Murgia A, Cancelli A, Turturici I, Iadevaia A, Ponti E, Santoni R.

Acta Oncol. 2017 Nov;56(11):1621-1625. doi: 10.1080/0284186X.2017.1346383. Epub 2017 Aug 18.

PMID:
28820285
32.

Dynamic scaffolds for neuronal signaling: in silico analysis of the TANC protein family.

Gasparini A, Tosatto SCE, Murgia A, Leonardi E.

Sci Rep. 2017 Jul 28;7(1):6829. doi: 10.1038/s41598-017-05748-5.

33.

Effectiveness and feasibility of eccentric and task-oriented strength training in individuals with stroke.

Folkerts MA, Hijmans JM, Elsinghorst AL, Mulderij Y, Murgia A, Dekker R.

NeuroRehabilitation. 2017;40(4):459-471. doi: 10.3233/NRE-171433.

PMID:
28211820
34.

Volumetric image-guided highly conformal radiotherapy of the prostate bed: Toxicity analysis.

Ingrosso G, Carosi A, di Cristino D, Ponti E, Lancia A, Murgia A, Bruni C, Morelli P, Pietrasanta F, Santoni R.

Rep Pract Oncol Radiother. 2017 Jan-Feb;22(1):64-70. Epub 2016 Nov 24.

35.

Rocking the boat: does perfect rowing crew synchronization reduce detrimental boat movements?

Cuijpers LS, Passos PJM, Murgia A, Hoogerheide A, Lemmink KAPM, de Poel HJ.

Scand J Med Sci Sports. 2017 Dec;27(12):1697-1704. doi: 10.1111/sms.12800. Epub 2016 Nov 23. Erratum in: Scand J Med Sci Sports. 2019 Sep;29(9):1437-1438.

PMID:
27882632
36.

Functional Relevance of Relative Maintenance of Maximal Eccentric Quadriceps Torque in Healthy Old Adults.

Waanders J, Beijersbergen C, Murgia A, Hortobágyi T.

Gerontology. 2016;62(6):588-596. Epub 2016 Apr 28.

37.

Potency Biomarker Signature Genes from Multiparametric Osteogenesis Assays: Will cGMP Human Bone Marrow Mesenchymal Stromal Cells Make Bone?

Murgia A, Veronesi E, Candini O, Caselli A, D'souza N, Rasini V, Giorgini A, Catani F, Iughetti L, Dominici M, Burns JS.

PLoS One. 2016 Oct 6;11(10):e0163629. doi: 10.1371/journal.pone.0163629. eCollection 2016.

38.

Metabolite profiles of formula milk compared to breast milk.

Scano P, Murgia A, Demuru M, Consonni R, Caboni P.

Food Res Int. 2016 Sep;87:76-82. doi: 10.1016/j.foodres.2016.06.024. Epub 2016 Jun 30.

PMID:
29606251
39.

Technical solutions to reduce mediastinal irradiation in young patients undergoing treatment for lymphomas: Preliminary experience.

Benassi M, Di Murro L, Tolu B, Ponti E, Falco MD, Rossi C, Bagalà P, di Cristino D, Murgia A, Cicchetti S, Bruni C, Morelli P, Lancia A, Santoni R.

Med Dosim. 2016 Winter;41(4):281-284. doi: 10.1016/j.meddos.2016.06.004. Epub 2016 Aug 21.

PMID:
27554205
40.

GC-MS metabolomics analysis of mesenchymal stem cells treated with copper oxide nanoparticles.

Murgia A, Mancuso L, Manis C, Caboni P, Cao G.

Toxicol Mech Methods. 2016 Oct;26(8):611-619. Epub 2016 Aug 23.

PMID:
27552400
41.

Human biliary tree stem/progenitor cells immunomodulation: Role of hepatocyte growth factor.

Maraldi T, Guida M, Beretti F, Resca E, Carpino G, Cardinale V, Gentile R, Ardizzoni A, Murgia A, Alvaro D, Gaudio E, De Pol A.

Hepatol Res. 2017 Apr;47(5):465-479. doi: 10.1111/hepr.12772. Epub 2016 Aug 16.

PMID:
27381820
42.

Gas chromatography-mass spectrometry metabolomics of goat milk with different polymorphism at the αS1-casein genotype locus.

Caboni P, Murgia A, Porcu A, Demuru M, Pulina G, Nudda A.

J Dairy Sci. 2016 Aug;99(8):6046-6051. doi: 10.3168/jds.2015-10537. Epub 2016 Jun 8.

43.

Exploring the Role of Different Neonatal Nutrition Regimens during the First Week of Life by Urinary GC-MS Metabolomics.

Dessì A, Murgia A, Agostino R, Pattumelli MG, Schirru A, Scano P, Fanos V, Caboni P.

Int J Mol Sci. 2016 Feb 22;17(2):265. doi: 10.3390/ijms17020265.

44.

Von Hippel-Lindau disease: an evaluation of natural history and functional disability.

Feletti A, Anglani M, Scarpa B, Schiavi F, Boaretto F, Zovato S, Taschin E, Gardi M, Zanoletti E, Piermarocchi S, Murgia A, Pavesi G, Opocher G.

Neuro Oncol. 2016 Jul;18(7):1011-20. doi: 10.1093/neuonc/nov313. Epub 2016 Jan 12.

45.

Functional characterization of CDK5 and CDK5R1 mutations identified in patients with non-syndromic intellectual disability.

Moncini S, Castronovo P, Murgia A, Russo S, Bedeschi MF, Lunghi M, Selicorni A, Bonati MT, Riva P, Venturin M.

J Hum Genet. 2016 Apr;61(4):283-93. doi: 10.1038/jhg.2015.144. Epub 2015 Dec 10.

PMID:
26657932
46.

In vitro nematicidal activity of aryl hydrazones and comparative GC-MS metabolomics analysis.

Eloh K, Demurtas M, Deplano A, Ngoutane Mfopa A, Murgia A, Maxia A, Onnis V, Caboni P.

J Agric Food Chem. 2015 Nov 18;63(45):9970-6. doi: 10.1021/acs.jafc.5b04815. Epub 2015 Nov 10.

PMID:
26528945
47.

Metabolomics and microbiological profile of Italian mozzarella cheese produced with buffalo and cow milk.

Pisano MB, Scano P, Murgia A, Cosentino S, Caboni P.

Food Chem. 2016 Feb 1;192:618-24. doi: 10.1016/j.foodchem.2015.07.061. Epub 2015 Jul 16.

PMID:
26304391
48.

Distribution of AGG interruption patterns within nine world populations.

Yrigollen CM, Sweha S, Durbin-Johnson B, Zhou L, Berry-Kravis E, Fernandez-Carvajal I, Faradz SM, Amiri K, Shaheen H, Polli R, Murillo-Bonilla L, Silva Arevalo Gde J, Cogram P, Murgia A, Tassone F.

Intractable Rare Dis Res. 2014 Nov;3(4):153-61. doi: 10.5582/irdr.2014.01028.

49.

Mesenchymal progenitors aging highlights a miR-196 switch targeting HOXB7 as master regulator of proliferation and osteogenesis.

Candini O, Spano C, Murgia A, Grisendi G, Veronesi E, Piccinno MS, Ferracin M, Negrini M, Giacobbi F, Bambi F, Horwitz EM, Conte P, Paolucci P, Dominici M.

Stem Cells. 2015 Mar;33(3):939-50. doi: 10.1002/stem.1897.

50.

Acute and late toxicity after three-dimensional conformal image-guided radiotherapy for localized prostate cancer.

Ingrosso G, Carosi A, Ponti E, Murgia A, di Cristino D, Barbarino R, Benassi M, Di Murro L, Giudice E, Bove P, Santoni R.

Cancer Invest. 2014 Dec;32(10):526-32. doi: 10.3109/07357907.2014.970193. Epub 2014 Oct 27.

PMID:
25347610

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