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Items: 1 to 50 of 128

1.

Range-Separated Double-Hybrid Functional from Nonempirical Constraints.

Brémond É, Savarese M, Pérez-Jiménez ÁJ, Sancho-García JC, Adamo C.

J Chem Theory Comput. 2018 Jul 12. doi: 10.1021/acs.jctc.8b00261. [Epub ahead of print]

PMID:
29923721
2.

Accuracy of TD-DFT Geometries: A Fresh Look.

Brémond E, Savarese M, Adamo C, Jacquemin D.

J Chem Theory Comput. 2018 Jul 10;14(7):3715-3727. doi: 10.1021/acs.jctc.8b00311. Epub 2018 Jun 22.

PMID:
29883546
3.

Valorization of Olive Mill Wastewater by Membrane Processes to Recover Natural Antioxidant Compounds for Cosmeceutical and Nutraceutical Applications or Functional Foods.

Alfano A, Corsuto L, Finamore R, Savarese M, Ferrara F, Falco S, Santabarbara G, De Rosa M, Schiraldi C.

Antioxidants (Basel). 2018 May 23;7(6). pii: E72. doi: 10.3390/antiox7060072.

4.

Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease.

Savarese M, Torella A, Musumeci O, Angelini C, Astrea G, Bello L, Bruno C, Comi GP, Di Fruscio G, Piluso G, Di Iorio G, Ergoli M, Esposito G, Fanin M, Farina O, Fiorillo C, Garofalo A, Giugliano T, Magri F, Minetti C, Moggio M, Passamano L, Pegoraro E, Picillo E, Sampaolo S, Santorelli FM, Semplicini C, Udd B, Toscano A, Politano L, Nigro V.

Neuromuscul Disord. 2018 Apr 9. pii: S0960-8966(17)31489-X. doi: 10.1016/j.nmd.2018.03.011. [Epub ahead of print]

PMID:
29880332
5.

A new case of limb girdle muscular dystrophy 2G in a Greek patient, founder effect and review of the literature.

Brusa R, Magri F, Papadimitriou D, Govoni A, Del Bo R, Ciscato P, Savarese M, Cinnante C, Walter MC, Abicht A, Bulst S, Corti S, Moggio M, Bresolin N, Nigro V, Comi GP.

Neuromuscul Disord. 2018 Jun;28(6):532-537. doi: 10.1016/j.nmd.2018.04.006. Epub 2018 Apr 13.

PMID:
29759638
6.

The complexity of titin splicing pattern in human adult skeletal muscles.

Savarese M, Jonson PH, Huovinen S, Paulin L, Auvinen P, Udd B, Hackman P.

Skelet Muscle. 2018 Mar 29;8(1):11. doi: 10.1186/s13395-018-0156-z.

7.

TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations.

Lee Y, Jonson PH, Sarparanta J, Palmio J, Sarkar M, Vihola A, Evilä A, Suominen T, Penttilä S, Savarese M, Johari M, Minot MC, Hilton-Jones D, Maddison P, Chinnery P, Reimann J, Kornblum C, Kraya T, Zierz S, Sue C, Goebel H, Azfer A, Ralston SH, Hackman P, Bucelli RC, Taylor JP, Weihl CC, Udd B.

J Clin Invest. 2018 Mar 1;128(3):1164-1177. doi: 10.1172/JCI97103. Epub 2018 Feb 19.

8.

Interpreting Genetic Variants in Titin in Patients With Muscle Disorders.

Savarese M, Maggi L, Vihola A, Jonson PH, Tasca G, Ruggiero L, Bello L, Magri F, Giugliano T, Torella A, Evilä A, Di Fruscio G, Vanakker O, Gibertini S, Vercelli L, Ruggieri A, Antozzi C, Luque H, Janssens S, Pasanisi MB, Fiorillo C, Raimondi M, Ergoli M, Politano L, Bruno C, Rubegni A, Pane M, Santorelli FM, Minetti C, Angelini C, De Bleecker J, Moggio M, Mongini T, Comi GP, Santoro L, Mercuri E, Pegoraro E, Mora M, Hackman P, Udd B, Nigro V.

JAMA Neurol. 2018 May 1;75(5):557-565. doi: 10.1001/jamaneurol.2017.4899.

PMID:
29435569
9.

Unraveling unusual X-chromosome patterns during fragile-X syndrome genetic testing.

Esposito G, Tremolaterra MR, Savarese M, Spiniello M, Patrizio MP, Lombardo B, Pastore L, Salvatore F, Carsana A.

Clin Chim Acta. 2018 Jan;476:167-172. doi: 10.1016/j.cca.2017.11.016. Epub 2017 Nov 21.

10.

Speed-Up of the Excited-State Benchmarking: Double-Hybrid Density Functionals as Test Cases.

Brémond É, Savarese M, Pérez-Jiménez ÁJ, Sancho-García JC, Adamo C.

J Chem Theory Comput. 2017 Nov 14;13(11):5539-5551. doi: 10.1021/acs.jctc.7b00627. Epub 2017 Oct 19.

PMID:
28976749
11.

Metrics for Molecular Electronic Excitations: A Comparison between Orbital- and Density-Based Descriptors.

Savarese M, Guido CA, Brémond E, Ciofini I, Adamo C.

J Phys Chem A. 2017 Oct 12;121(40):7543-7549. doi: 10.1021/acs.jpca.7b07080. Epub 2017 Sep 27.

PMID:
28895739
12.

Precise mapping of 17 deletion breakpoints within the central hotspot deletion region (introns 50 and 51) of the DMD gene.

Esposito G, Tremolaterra MR, Marsocci E, Tandurella IC, Fioretti T, Savarese M, Carsana A.

J Hum Genet. 2017 Dec;62(12):1057-1063. doi: 10.1038/jhg.2017.84. Epub 2017 Sep 7.

PMID:
28878337
13.

The SEeMORE strategy: single-tube electrophoresis analysis-based genotyping to detect monogenic diseases rapidly and effectively from conception until birth.

Cariati F, Savarese M, D'Argenio V, Salvatore F, Tomaiuolo R.

Clin Chem Lab Med. 2017 Nov 27;56(1):40-50. doi: 10.1515/cclm-2017-0147.

PMID:
28787268
14.

Fertilizing a Patient Engagement Ecosystem to Innovate Healthcare: Toward the First Italian Consensus Conference on Patient Engagement.

Graffigna G, Barello S, Riva G, Savarese M, Menichetti J, Castelnuovo G, Corbo M, Tzannis A, Aglione A, Bettega D, Bertoni A, Bigi S, Bruttomesso D, Carzaniga C, Del Campo L, Donato S, Gilardi S, Guglielmetti C, Gulizia M, Lastretti M, Mastrilli V, Mazzone A, Muttillo G, Ostuzzi S, Perseghin G, Piana N, Pitacco G, Polvani G, Pozzi M, Provenzi L, Quaglini G, Rossi M, Varese P, Visalli N, Vegni E, Ricciardi W, Bosio AC.

Front Psychol. 2017 Jun 6;8:812. doi: 10.3389/fpsyg.2017.00812. eCollection 2017.

15.

Diagnostic anoctamin-5 protein defect in patients with ANO5-mutated muscular dystrophy.

Vihola A, Luque H, Savarese M, Penttilä S, Lindfors M, Leturcq F, Eymard B, Tasca G, Brais B, Conte T, Charton K, Richard I, Udd B.

Neuropathol Appl Neurobiol. 2017 May 10. doi: 10.1111/nan.12410. [Epub ahead of print]

PMID:
28489263
16.

Comparing the performance of TD-DFT and SAC-CI methods in the description of excited states potential energy surfaces: An excited state proton transfer reaction as case study.

Savarese M, Raucci U, Fukuda R, Adamo C, Ehara M, Rega N, Ciofini I.

J Comput Chem. 2017 May 30;38(14):1084-1092. doi: 10.1002/jcc.24780.

PMID:
28409849
17.

SNCA 3'UTR genetic variants in patients with Parkinson's disease and REM sleep behavior disorder.

Toffoli M, Dreussi E, Cecchin E, Valente M, Sanvilli N, Montico M, Gagno S, Garziera M, Polano M, Savarese M, Calandra-Buonaura G, Placidi F, Terzaghi M, Toffoli G, Gigli GL.

Neurol Sci. 2017 Jul;38(7):1233-1240. doi: 10.1007/s10072-017-2945-2. Epub 2017 Apr 13.

PMID:
28409245
18.

Determining the role of the underlying orbital-dependence of PBE0-DH and PBE-QIDH double-hybrid density functionals.

Sancho-García JC, Pérez-Jiménez ÁJ, Savarese M, Brémond É, Adamo C.

J Comput Chem. 2017 Jun 30;38(17):1509-1514. doi: 10.1002/jcc.24788. Epub 2017 Apr 10.

PMID:
28394021
19.

Studies on the Enantioselective Iminium Ion Trapping of Radicals Triggered by an Electron-Relay Mechanism.

Bahamonde A, Murphy JJ, Savarese M, Brémond É, Cavalli A, Melchiorre P.

J Am Chem Soc. 2017 Mar 29;139(12):4559-4567. doi: 10.1021/jacs.7b01446. Epub 2017 Mar 20.

20.

Partnering dispersion corrections with modern parameter-free double-hybrid density functionals.

Sancho-García JC, Brémond É, Savarese M, Pérez-Jiménez AJ, Adamo C.

Phys Chem Chem Phys. 2017 May 31;19(21):13481-13487. doi: 10.1039/c7cp00709d.

PMID:
28275771
21.

Association study reveals novel risk loci for sporadic inclusion body myositis.

Johari M, Arumilli M, Palmio J, Savarese M, Tasca G, Mirabella M, Sandholm N, Lohi H, Hackman P, Udd B.

Eur J Neurol. 2017 Apr;24(4):572-577. doi: 10.1111/ene.13244. Epub 2017 Feb 24.

PMID:
28233382
22.

Inflammatory myopathy in a patient with collagen VI mutations.

Papa R, Fiorillo C, Malattia C, Minoia F, Caorsi R, Assereto S, Iacomino M, Savarese M, Nigro V, Bruno C, Minetti C, Picco P.

Scand J Rheumatol. 2018 Mar;47(2):166-167. doi: 10.1080/03009742.2016.1274423. Epub 2017 Jan 18. No abstract available.

PMID:
28097933
23.

A rare case of giant fibrovascular polyp endoscopically resected with loop and cut technique.

Mangiavillano B, Savarese MF, Boeri F, Ruggeri C, Conio M.

VideoGIE. 2016 Dec 26;2(3):57-58. doi: 10.1016/j.vgie.2016.12.006. eCollection 2017 Mar. No abstract available.

24.

Increasing Role of Titin Mutations in Neuromuscular Disorders.

Savarese M, Sarparanta J, Vihola A, Udd B, Hackman P.

J Neuromuscul Dis. 2016 Aug 30;3(3):293-308. Review.

25.

Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy.

Evilä A, Palmio J, Vihola A, Savarese M, Tasca G, Penttilä S, Lehtinen S, Jonson PH, De Bleecker J, Rainer P, Auer-Grumbach M, Pouget J, Salort-Campana E, Vilchez JJ, Muelas N, Olive M, Hackman P, Udd B.

Mol Neurobiol. 2017 Nov;54(9):7212-7223. doi: 10.1007/s12035-016-0242-3. Epub 2016 Oct 29.

PMID:
27796757
26.

The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis.

Magri F, Nigro V, Angelini C, Mongini T, Mora M, Moroni I, Toscano A, D'angelo MG, Tomelleri G, Siciliano G, Ricci G, Bruno C, Corti S, Musumeci O, Tasca G, Ricci E, Monforte M, Sciacco M, Fiorillo C, Gandossini S, Minetti C, Morandi L, Savarese M, Fruscio GD, Semplicini C, Pegoraro E, Govoni A, Brusa R, Del Bo R, Ronchi D, Moggio M, Bresolin N, Comi GP.

Muscle Nerve. 2017 Jan;55(1):55-68. doi: 10.1002/mus.25192. Epub 2016 Oct 28.

27.

Next-generation sequencing approaches for the diagnosis of skeletal muscle disorders.

Nigro V, Savarese M.

Curr Opin Neurol. 2016 Oct;29(5):621-7. doi: 10.1097/WCO.0000000000000371. Review.

PMID:
27454578
28.

MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients.

Fiorillo C, Astrea G, Savarese M, Cassandrini D, Brisca G, Trucco F, Pedemonte M, Trovato R, Ruggiero L, Vercelli L, D'Amico A, Tasca G, Pane M, Fanin M, Bello L, Broda P, Musumeci O, Rodolico C, Messina S, Vita GL, Sframeli M, Gibertini S, Morandi L, Mora M, Maggi L, Petrucci A, Massa R, Grandis M, Toscano A, Pegoraro E, Mercuri E, Bertini E, Mongini T, Santoro L, Nigro V, Minetti C, Santorelli FM, Bruno C; Italian Network on Congenital Myopathies.

Orphanet J Rare Dis. 2016 Jul 7;11(1):91. doi: 10.1186/s13023-016-0476-1.

29.

Loss of the Otx2-Binding Site in the Nanog Promoter Affects the Integrity of Embryonic Stem Cell Subtypes and Specification of Inner Cell Mass-Derived Epiblast.

Acampora D, Omodei D, Petrosino G, Garofalo A, Savarese M, Nigro V, Di Giovannantonio LG, Mercadante V, Simeone A.

Cell Rep. 2016 Jun 21;15(12):2651-64. doi: 10.1016/j.celrep.2016.05.041. Epub 2016 Jun 9.

30.

The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients.

Savarese M, Di Fruscio G, Torella A, Fiorillo C, Magri F, Fanin M, Ruggiero L, Ricci G, Astrea G, Passamano L, Ruggieri A, Ronchi D, Tasca G, D'Amico A, Janssens S, Farina O, Mutarelli M, Marwah VS, Garofalo A, Giugliano T, Sampaolo S, Del Vecchio Blanco F, Esposito G, Piluso G, D'Ambrosio P, Petillo R, Musumeci O, Rodolico C, Messina S, Evilä A, Hackman P, Filosto M, Di Iorio G, Siciliano G, Mora M, Maggi L, Minetti C, Sacconi S, Santoro L, Claes K, Vercelli L, Mongini T, Ricci E, Gualandi F, Tupler R, De Bleecker J, Udd B, Toscano A, Moggio M, Pegoraro E, Bertini E, Mercuri E, Angelini C, Santorelli FM, Politano L, Bruno C, Comi GP, Nigro V.

Neurology. 2016 Jul 5;87(1):71-6. doi: 10.1212/WNL.0000000000002800. Epub 2016 Jun 8. Erratum in: Neurology. 2018 Jun 5;90(23):1084.

31.

A Comparison of Maternal and Paternal Experiences of Becoming Parents of a Very Preterm Infant.

Provenzi L, Barello S, Fumagalli M, Graffigna G, Sirgiovanni I, Savarese M, Montirosso R.

J Obstet Gynecol Neonatal Nurs. 2016 Jul-Aug;45(4):528-41. doi: 10.1016/j.jogn.2016.04.004. Epub 2016 Jun 4.

PMID:
27266963
32.

From Shell Midden to Midden-Mound: The Geoarchaeology of Mound Key, an Anthropogenic Island in Southwest Florida, USA.

Thompson VD, Marquardt WH, Cherkinsky A, Roberts Thompson AD, Walker KJ, Newsom LA, Savarese M.

PLoS One. 2016 Apr 28;11(4):e0154611. doi: 10.1371/journal.pone.0154611. eCollection 2016.

33.

Identification of an intragenic deletion in the SGCB gene through a re-evaluation of negative next generation sequencing results.

Giugliano T, Fanin M, Savarese M, Piluso G, Angelini C, Nigro V.

Neuromuscul Disord. 2016 Jun;26(6):367-9. doi: 10.1016/j.nmd.2016.02.013. Epub 2016 Mar 31.

34.

GYG1 gene mutations in a family with polyglucosan body myopathy.

Fanin M, Torella A, Savarese M, Nigro V, Angelini C.

Neurol Genet. 2015 Sep 24;1(3):e21. doi: 10.1212/NXG.0000000000000021. eCollection 2015 Oct.

35.

Quadratic integrand double-hybrid made spin-component-scaled.

Brémond É, Savarese M, Sancho-García JC, Pérez-Jiménez ÁJ, Adamo C.

J Chem Phys. 2016 Mar 28;144(12):124104. doi: 10.1063/1.4944465.

PMID:
27036424
36.

Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers.

Savarese M, Musumeci O, Giugliano T, Rubegni A, Fiorillo C, Fattori F, Torella A, Battini R, Rodolico C, Pugliese A, Piluso G, Maggi L, D'Amico A, Bruno C, Bertini E, Santorelli FM, Mora M, Toscano A, Minetti C, Nigro V.

Neuromuscul Disord. 2016 Apr-May;26(4-5):292-9. doi: 10.1016/j.nmd.2016.02.004. Epub 2016 Feb 17.

37.

Myoimaging in the NGS era: the discovery of a novel mutation in MYH7 in a family with distal myopathy and core-like features--a case report.

Astrea G, Petrucci A, Cassandrini D, Savarese M, Trovato R, Lispi L, Rubegni A, Giacanelli M, Massa R, Nigro V, Santorelli FM.

BMC Med Genet. 2016 Mar 22;17:25. doi: 10.1186/s12881-016-0288-0.

38.

Importance of Orbital Optimization for Double-Hybrid Density Functionals: Application of the OO-PBE-QIDH Model for Closed- and Open-Shell Systems.

Sancho-García JC, Pérez-Jiménez AJ, Savarese M, Brémond E, Adamo C.

J Phys Chem A. 2016 Mar 17;120(10):1756-62. doi: 10.1021/acs.jpca.6b00994. Epub 2016 Mar 3.

PMID:
26901447
39.

Next generation sequencing detection of late onset pompe disease.

Angelini C, Savarese M, Fanin M, Nigro V.

Muscle Nerve. 2016 Jun;53(6):981-3. doi: 10.1002/mus.25042. Epub 2016 Apr 25.

PMID:
26800218
40.

Excited-State Proton Transfer and Intramolecular Charge Transfer in 1,3-Diketone Molecules.

Savarese M, Brémond É, Adamo C, Rega N, Ciofini I.

Chemphyschem. 2016 May 18;17(10):1530-8. doi: 10.1002/cphc.201500908. Epub 2016 Apr 13.

PMID:
26751998
41.

Subjective hypnotic efficacy of Trazodone and Mirtazapine in patients with chronic insomnia: a retrospective, comparative study.

Savarese M, Carnicelli M, Cardinali V, Mogavero MP, Federico F.

Arch Ital Biol. 2015 Jun-Sep;153(2-3):231-8. doi: 10.12871/0003982920152348.

PMID:
26742677
42.

Benchmarking Density Functionals on Structural Parameters of Small-/Medium-Sized Organic Molecules.

Brémond É, Savarese M, Su NQ, Pérez-Jiménez ÁJ, Xu X, Sancho-García JC, Adamo C.

J Chem Theory Comput. 2016 Feb 9;12(2):459-65. doi: 10.1021/acs.jctc.5b01144. Epub 2016 Jan 11.

PMID:
26730741
43.

Systematic Improvement of Density Functionals through Parameter-Free Hybridization Schemes.

Brémond É, Savarese M, Pérez-Jiménez ÁJ, Sancho-García JC, Adamo C.

J Phys Chem Lett. 2015 Sep 17;6(18):3540-5. doi: 10.1021/acs.jpclett.5b01581. Epub 2015 Aug 28.

PMID:
26722720
44.

Split-dose preparation for colonoscopy increases adenoma detection rate: a randomised controlled trial in an organised screening programme.

Radaelli F, Paggi S, Hassan C, Senore C, Fasoli R, Anderloni A, Buffoli F, Savarese MF, Spinzi G, Rex DK, Repici A.

Gut. 2017 Feb;66(2):270-277. doi: 10.1136/gutjnl-2015-310685. Epub 2015 Dec 9.

PMID:
26657900
45.

Computational Insights into Excited-State Proton-Transfer Reactions in Azo and Azomethine Dyes.

Savarese M, Brémond É, Antonov L, Ciofini I, Adamo C.

Chemphyschem. 2015 Dec 21;16(18):3966-73. doi: 10.1002/cphc.201500589. Epub 2015 Nov 12.

PMID:
26441214
46.

Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway.

Di Fruscio G, Schulz A, De Cegli R, Savarese M, Mutarelli M, Parenti G, Banfi S, Braulke T, Nigro V, Ballabio A.

Autophagy. 2015;11(6):928-38. doi: 10.1080/15548627.2015.1043077.

47.

Are all the previously reported genetic variants in limb girdle muscular dystrophy genes pathogenic?

Di Fruscio G, Garofalo A, Mutarelli M, Savarese M, Nigro V.

Eur J Hum Genet. 2016 Jan;24(1):73-7. doi: 10.1038/ejhg.2015.76. Epub 2015 Apr 22.

48.

Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations.

Savarese M, Di Fruscio G, Tasca G, Ruggiero L, Janssens S, De Bleecker J, Delpech M, Musumeci O, Toscano A, Angelini C, Sacconi S, Santoro L, Ricci E, Claes K, Politano L, Nigro V.

Neuromuscul Disord. 2015 Jul;25(7):533-41. doi: 10.1016/j.nmd.2015.03.011. Epub 2015 Mar 30.

49.

'Engage me in taking care of my heart': a grounded theory study on patient-cardiologist relationship in the hospital management of heart failure.

Barello S, Graffigna G, Vegni E, Savarese M, Lombardi F, Bosio AC.

BMJ Open. 2015 Mar 16;5(3):e005582. doi: 10.1136/bmjopen-2014-005582.

50.

Prevalence of anti-adeno-associated virus serotype 8 neutralizing antibodies and arylsulfatase B cross-reactive immunologic material in mucopolysaccharidosis VI patient candidates for a gene therapy trial.

Ferla R, Claudiani P, Savarese M, Kozarsky K, Parini R, Scarpa M, Donati MA, Sorge G, Hopwood JJ, Parenti G, Fecarotta S, Nigro V, Sivri HS, Van Der Ploeg A, Andria G, Brunetti-Pierri N, Auricchio A.

Hum Gene Ther. 2015 Mar;26(3):145-52. doi: 10.1089/hum.2014.109.

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