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Items: 1 to 50 of 206

1.

Next-generation sequencing approach to hyperCKemia: A 2-year cohort study.

Rubegni A, Malandrini A, Dosi C, Astrea G, Baldacci J, Battisti C, Bertocci G, Donati MA, Dotti MT, Federico A, Giannini F, Grosso S, Guerrini R, Lenzi S, Maioli MA, Melani F, Mercuri E, Sacchini M, Salvatore S, Siciliano G, Tolomeo D, Tonin P, Volpi N, Santorelli FM, Cassandrini D.

Neurol Genet. 2019 Aug 16;5(5):e352. doi: 10.1212/NXG.0000000000000352. eCollection 2019 Oct.

2.

Nonsense mutations in alpha-II spectrin in three families with juvenile onset hereditary motor neuropathy.

Beijer D, Deconinck T, De Bleecker JL, Dotti MT, Malandrini A, Urtizberea JA, Zulaica M, López de Munain A, Asselbergh B, De Jonghe P, Baets J.

Brain. 2019 Sep 1;142(9):2605-2616. doi: 10.1093/brain/awz216.

PMID:
31332438
3.

Cerebellar ataxia associated with anti-glutamic acid decarboxylase antibodies: a case report.

Villa SM, Rufa A, Malandrini A, Cerase A, Rosini F, Arrigucci U, Federico A.

Neurol Sci. 2019 Jun;40(6):1303-1306. doi: 10.1007/s10072-019-3701-6. Epub 2019 Jan 11. No abstract available.

PMID:
30635801
4.

Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study.

D'Amore A, Tessa A, Casali C, Dotti MT, Filla A, Silvestri G, Antenora A, Astrea G, Barghigiani M, Battini R, Battisti C, Bruno I, Cereda C, Dato C, Di Iorio G, Donadio V, Felicori M, Fini N, Fiorillo C, Gallone S, Gemignani F, Gigli GL, Graziano C, Guerrini R, Gurrieri F, Kariminejad A, Lieto M, Marques LourenḈo C, Malandrini A, Mandich P, Marcotulli C, Mari F, Massacesi L, Melone MAB, Mignarri A, Milone R, Musumeci O, Pegoraro E, Perna A, Petrucci A, Pini A, Pochiero F, Pons MR, Ricca I, Rossi S, Seri M, Stanzial F, Tinelli F, Toscano A, Valente M, Federico A, Rubegni A, Santorelli FM.

Front Neurol. 2018 Dec 4;9:981. doi: 10.3389/fneur.2018.00981. eCollection 2018.

5.

Anvil-profiled penetrating keratoplasty: load resistance evaluation.

Canovetti A, Rossi F, Rossi M, Menabuoni L, Malandrini A, Pini R, Ferrara P.

Biomech Model Mechanobiol. 2019 Apr;18(2):319-325. doi: 10.1007/s10237-018-1083-y. Epub 2018 Oct 31.

PMID:
30382505
6.

Myoclonus epilepsy, retinitis pigmentosa, leukoencephalopathy and cerebral calcifications associated with a novel m.5513G>A mutation in the MT-TW gene.

Cardaioli E, Mignarri A, Cantisani TA, Malandrini A, Nesti C, Rubegni A, Funel N, Federico A, Santorelli FM, Dotti MT.

Biochem Biophys Res Commun. 2018 Jun 2;500(2):158-162. doi: 10.1016/j.bbrc.2018.04.009. Epub 2018 Apr 13.

PMID:
29625105
7.

Discordant manifestations in Italian brothers with GNE myopathy.

Dotti MT, Malandrini A, Lornage X, Mignarri A, Cantisani TA, Bohm J, Laporte J, Malfatti E.

J Neurol Sci. 2018 Mar 15;386:1-3. doi: 10.1016/j.jns.2018.01.002. Epub 2018 Jan 5. No abstract available.

PMID:
29406958
8.

Neuromyopathy with congenital cataracts and glaucoma: a distinct syndrome caused by POLG variants.

Castiglioni C, Fattori F, Udd B, de Los Angeles Avaria M, Suarez B, D'Amico A, Malandrini A, Carrozzo R, Verrigni D, Bertini E, Tasca G.

Eur J Hum Genet. 2018 Mar;26(3):367-373. doi: 10.1038/s41431-017-0003-4. Epub 2018 Jan 22.

9.

Imaging of the thymus in myotonic dystrophy type 1.

Mignarri A, Gentili F, Masia F, Genua A, Cenciarelli S, Brunori P, Mazzei MA, Malandrini A, Federico A, Mazzei FG, Dotti MT.

Neurol Sci. 2018 Feb;39(2):347-351. doi: 10.1007/s10072-017-3202-4. Epub 2017 Nov 25.

PMID:
29177794
10.

Identification and characterization of three novel mutations in the CASQ1 gene in four patients with tubular aggregate myopathy.

Barone V, Del Re V, Gamberucci A, Polverino V, Galli L, Rossi D, Costanzi E, Toniolo L, Berti G, Malandrini A, Ricci G, Siciliano G, Vattemi G, Tomelleri G, Pierantozzi E, Spinozzi S, Volpi N, Fulceri R, Battistutta R, Reggiani C, Sorrentino V.

Hum Mutat. 2017 Dec;38(12):1761-1773. doi: 10.1002/humu.23338. Epub 2017 Sep 26.

PMID:
28895244
11.

SPG2 mimicking multiple sclerosis in a family identified using next generation sequencing.

Rubegni A, Battisti C, Tessa A, Cerase A, Doccini S, Malandrini A, Santorelli FM, Federico A.

J Neurol Sci. 2017 Apr 15;375:198-202. doi: 10.1016/j.jns.2017.01.069. Epub 2017 Jan 27.

PMID:
28320130
12.

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) as a model of small vessel disease: update on clinical, diagnostic, and management aspects.

Di Donato I, Bianchi S, De Stefano N, Dichgans M, Dotti MT, Duering M, Jouvent E, Korczyn AD, Lesnik-Oberstein SA, Malandrini A, Markus HS, Pantoni L, Penco S, Rufa A, Sinanović O, Stojanov D, Federico A.

BMC Med. 2017 Feb 24;15(1):41. doi: 10.1186/s12916-017-0778-8. Review.

13.

Novel POLG mutations and variable clinical phenotypes in 13 Italian patients.

Da Pozzo P, Cardaioli E, Rubegni A, Gallus GN, Malandrini A, Rufa A, Battisti C, Carluccio MA, Rocchi R, Giannini F, Bianchi A, Mancuso M, Siciliano G, Dotti MT, Federico A.

Neurol Sci. 2017 Apr;38(4):563-570. doi: 10.1007/s10072-016-2734-3. Epub 2017 Jan 27.

PMID:
28130605
14.

VITREOUS INCARCERATION IN SCLEROTOMIES AFTER VALVED 23-, 25-, OR 27-GAUGE AND NONVALVED 23- OR 25-GAUGE MACULAR SURGERY.

Tosi GM, Malandrini A, Cevenini G, Neri G, Marigliani D, Cerruto A, Virgili G.

Retina. 2017 Oct;37(10):1948-1955. doi: 10.1097/IAE.0000000000001445.

15.

Polyneuropathy with demyelinating changes in Churg-Strauss syndrome: an unusual association.

Pati AR, Capecchi PL, Malandrini A, Federico A, Mignarri A.

Neurol Sci. 2017 Apr;38(4):695-697. doi: 10.1007/s10072-016-2789-1. Epub 2016 Dec 26. No abstract available.

PMID:
28025723
16.

Complex I deficiency related to T10158C mutation ND3 gene: A further definition of the clinical spectrum.

Grosso S, Carluccio MA, Cardaioli E, Cerase A, Malandrini A, Romano C, Federico A, Dotti MT.

Brain Dev. 2017 Mar;39(3):261-265. doi: 10.1016/j.braindev.2016.09.013. Epub 2016 Oct 11.

PMID:
27742419
17.

Three-dimensional mapping of the orientation of collagen corneal lamellae in healthy and keratoconic human corneas using SHG microscopy.

Mercatelli R, Ratto F, Rossi F, Tatini F, Menabuoni L, Malandrini A, Nicoletti R, Pini R, Pavone FS, Cicchi R.

J Biophotonics. 2017 Jan;10(1):75-83. doi: 10.1002/jbio.201600122. Epub 2016 Jul 29.

PMID:
27472438
18.

Multiple sclerosis and chronic progressive external ophthalmoplegia associated with a large scale mitochondrial DNA single deletion.

Gaetani L, Mignarri A, Di Gregorio M, Sarchielli P, Malandrini A, Cardaioli E, Calabresi P, Dotti MT, Di Filippo M.

J Neurol. 2016 Jul;263(7):1449-51. doi: 10.1007/s00415-016-8120-5. Epub 2016 Apr 25. No abstract available.

PMID:
27113600
19.

Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesions.

Denora PS, Smets K, Zolfanelli F, Ceuterick-de Groote C, Casali C, Deconinck T, Sieben A, Gonzales M, Zuchner S, Darios F, Peeters D, Brice A, Malandrini A, De Jonghe P, Santorelli FM, Stevanin G, Martin JJ, El Hachimi KH.

Brain. 2016 Jun;139(Pt 6):1723-34. doi: 10.1093/brain/aww061. Epub 2016 Mar 25.

20.

Mitochondrial dysfunction in hereditary spastic paraparesis with mutations in DDHD1/SPG28.

Mignarri A, Rubegni A, Tessa A, Stefanucci S, Malandrini A, Cardaioli E, Meschini MC, Stromillo ML, Doccini S, Federico A, Santorelli FM, Dotti MT.

J Neurol Sci. 2016 Mar 15;362:287-91. doi: 10.1016/j.jns.2016.02.007. Epub 2016 Feb 4.

PMID:
26944165
21.

Is myopathy with rimmed vacuoles a hallmark of juvenile neuronal ceroid lipofuscinosis (CLN3)?

Borgione E, Castello F, Lo Giudice M, Santa Paola S, Salvatore S, Berti G, Malandrini A, Bottitta M, Musumeci SA, Scuderi C.

Neurol Sci. 2016 May;37(5):805-7. doi: 10.1007/s10072-015-2439-z. Epub 2015 Dec 23. No abstract available.

PMID:
26700800
22.

Bifocal refractive corneal inlay implantation to improve near vision in emmetropic presbyopic patients.

Malandrini A, Martone G, Menabuoni L, Catanese AM, Tosi GM, Balestrazzi A, Corsani C, Fantozzi M.

J Cataract Refract Surg. 2015 Sep;41(9):1962-72. doi: 10.1016/j.jcrs.2015.01.018.

PMID:
26603405
23.

Treatment of SPG5 with cholesterol-lowering drugs.

Mignarri A, Malandrini A, Del Puppo M, Magni A, Monti L, Ginanneschi F, Tessa A, Santorelli FM, Federico A, Dotti MT.

J Neurol. 2015 Dec;262(12):2783-5. doi: 10.1007/s00415-015-7971-5. Epub 2015 Nov 14. No abstract available.

PMID:
26566916
24.

Hydroxychloroquine neuromyotoxicity: a case with rapid course and complete recovery.

Vinciguerra C, Sicurelli F, Fioravanti A, Malandrini A, Battisti C, Federico A.

Neurol Sci. 2015 Dec;36(12):2293-4. doi: 10.1007/s10072-015-2355-2. Epub 2015 Aug 11. No abstract available.

PMID:
26260758
25.

An "All-laser" Endothelial Transplant.

Rossi F, Canovetti A, Malandrini A, Lenzetti I, Pini R, Menabuoni L.

J Vis Exp. 2015 Jul 6;(101):e52939. doi: 10.3791/52939.

26.

Sporadic PEO caused by a novel POLG variation and a Twinkle mutation: digenic inheritance?

Da Pozzo P, Rubegni A, Rufa A, Cardaioli E, Taglia I, Gallus GN, Malandrini A, Federico A.

Neurol Sci. 2015 Sep;36(9):1713-5. doi: 10.1007/s10072-015-2247-5. Epub 2015 Jun 7.

PMID:
26050231
27.

Mitochondrial recessive ataxia syndrome: A neurological rarity not to be missed.

Mignarri A, Cenciarelli S, Da Pozzo P, Cardaioli E, Malandrini A, Federico A, Dotti MT.

J Neurol Sci. 2015 Feb 15;349(1-2):254-5. doi: 10.1016/j.jns.2014.12.040. Epub 2015 Jan 3. No abstract available.

PMID:
25586537
28.

Capsule contraction syndrome with a microincision foldable hydrophilic acrylic intraocular lens: two case reports and review of the literature.

Balestrazzi A, Malandrini A, Martone G, Marigliani D, Caporossi T, Tosi GM.

Case Rep Ophthalmol. 2014 Oct 16;5(3):329-35. doi: 10.1159/000368344. eCollection 2014 Sep.

29.

A novel homozygous ISPD gene mutation causing phenotype variability in a consanguineous family.

Baranello G, Saredi S, Sansanelli S, Savadori P, Canioni E, Chiapparini L, Balestri P, Malandrini A, Arnoldi MT, Pantaleoni C, Morandi L, Mora M.

Neuromuscul Disord. 2015 Jan;25(1):55-9. doi: 10.1016/j.nmd.2014.08.007. Epub 2014 Sep 10.

PMID:
25444434
30.

Laser-assisted penetrating keratoplasty: 1-year results in patients using a laser-welded anvil-profiled graft.

Canovetti A, Malandrini A, Lenzetti I, Rossi F, Pini R, Menabuoni L.

Am J Ophthalmol. 2014 Oct;158(4):664-670.e2. doi: 10.1016/j.ajo.2014.07.010. Epub 2014 Jul 15.

PMID:
25036878
31.

Morphologic study of the cornea by in vivo confocal microscopy and optical coherence tomography after bifocal refractive corneal inlay implantation.

Malandrini A, Martone G, Canovetti A, Menabuoni L, Balestrazzi A, Fantozzi C, Lenzetti C, Fantozzi M.

J Cataract Refract Surg. 2014 Apr;40(4):545-57. doi: 10.1016/j.jcrs.2013.08.057.

PMID:
24680518
32.

Hereditary spastic paraplegia type 5: a potentially treatable disorder of cholesterol metabolism.

Mignarri A, Malandrini A, Del Puppo M, Magni A, Monti L, Ginanneschi F, Tessa A, Santorelli FM, Federico A, Dotti MT.

J Neurol. 2014 Mar;261(3):617-9. doi: 10.1007/s00415-014-7253-7. Epub 2014 Feb 8. No abstract available.

PMID:
24509641
33.

A case of 3243A>G mutation in mtDNA presenting as apparently idiopathic hyperCKemia.

Rubegni A, Cardaioli E, Chini E, Da Pozzo P, Battisti C, Malandrini A, Federico A.

J Neurol Sci. 2014 Mar 15;338(1-2):232-4. doi: 10.1016/j.jns.2014.01.010. Epub 2014 Jan 14.

PMID:
24468540
34.

Improving Boston type 1 keratoprosthesis procedure: one-touch femtosecond-assisted preparation and centration of donor carrier tissue.

Malandrini A, Balestrazzi A, Canovetti A, Rossi F, Cortesini L, Lenzetti C, Pini R, Menabuoni L.

Eur J Ophthalmol. 2014 Mar-Apr;24(2):191-5. doi: 10.5301/ejo.5000387. Epub 2013 Dec 12.

PMID:
24338585
35.

Homozygosity and severity of phenotypic presentation in a CADASIL family.

Vinciguerra C, Rufa A, Bianchi S, Sperduto A, De Santis M, Malandrini A, Dotti MT, Federico A.

Neurol Sci. 2014 Jan;35(1):91-3. doi: 10.1007/s10072-013-1580-9. Epub 2013 Nov 26.

PMID:
24277202
36.

Electron-dense lamellated inclusions in 2 siblings with Kufor-Rakeb syndrome.

Malandrini A, Rubegni A, Battisti C, Berti G, Federico A.

Mov Disord. 2013 Oct;28(12):1751-2. doi: 10.1002/mds.25470. Epub 2013 Apr 29. No abstract available.

PMID:
23630171
37.

The 'anvil' profile in femtosecond laser-assisted penetrating keratoplasty.

Menabuoni L, Canovetti A, Rossi F, Malandrini A, Lenzetti I, Pini R.

Acta Ophthalmol. 2013 Sep;91(6):e494-5. doi: 10.1111/aos.12144. Epub 2013 Apr 26. No abstract available.

38.

Huntington's disease gene expansion associates with early onset nonprogressive chorea.

Dosa L, Malandrini A, Di Donato I, Hladnik U, Meloni I, Mari F, Federico A.

Mov Disord. 2013 May;28(5):684. doi: 10.1002/mds.25443. Epub 2013 Mar 27. No abstract available.

PMID:
23536475
39.

Clinical course of two Italian siblings with ataxia-telangiectasia-like disorder.

Palmeri S, Rufa A, Pucci B, Santarnecchi E, Malandrini A, Stromillo ML, Mandalà M, Rosini F, De Stefano N, Federico A.

Cerebellum. 2013 Aug;12(4):596-9. doi: 10.1007/s12311-013-0460-4.

PMID:
23436002
40.

Kohlschütter-Tönz syndrome: mutations in ROGDI and evidence of genetic heterogeneity.

Tucci A, Kara E, Schossig A, Wolf NI, Plagnol V, Fawcett K, Paisán-Ruiz C, Moore M, Hernandez D, Musumeci S, Tennison M, Hennekam R, Palmeri S, Malandrini A, Raskin S, Donnai D, Hennig C, Tzschach A, Hordijk R, Bast T, Wimmer K, Lo CN, Shorvon S, Mefford H, Eichler EE, Hall R, Hayes I, Hardy J, Singleton A, Zschocke J, Houlden H.

Hum Mutat. 2013 Feb;34(2):296-300. doi: 10.1002/humu.22241. Epub 2012 Nov 27.

41.

Sporadic myopathy, myoclonus, leukoencephalopathy, neurosensory deafness, hypertrophic cardiomyopathy and insulin resistance associated with the mitochondrial 8306 T>C MTTK mutation.

Cardaioli E, Malfatti E, Battisti C, Da Pozzo P, Rubegni A, Gallus GN, Malandrini A, Federico A.

J Neurol Sci. 2012 Oct 15;321(1-2):92-5. doi: 10.1016/j.jns.2012.07.027. Epub 2012 Aug 24.

PMID:
22925535
42.

The first Italian patient with oculopharyngodistal myopathy: case report and considerations on differential diagnosis.

Mignarri A, Carluccio MA, Malandrini A, Sicurelli F, Galli L, Mazzei MA, Federico A, Orrico A, Dotti MT.

Neuromuscul Disord. 2012 Aug;22(8):759-62. doi: 10.1016/j.nmd.2012.03.010. Epub 2012 May 29.

PMID:
22652077
43.

Transient periodic lateralised epileptiform discharges (PLEDs) following internal carotid artery stenting.

Marino D, Vatti G, Rufa A, Malandrini A, Rocchi R, Bracco S, Buccoliero R, Federico A.

Epileptic Disord. 2012 Mar;14(1):85-9. doi: 10.1684/epd.2012.0487.

44.

Acute shoulder-girdle neuralgic amyotrophy (Parsonage-Turner syndrome with saphenous nerve involvement.

Ginanneschi F, Malandrini A, Monti L, Rossi A.

Acta Neurol Belg. 2011 Dec;111(4):333-6.

PMID:
22368976
45.

Peripheral neuropathy in late-onset Krabbe disease: report of three cases.

Malandrini A, D'Eramo C, Palmeri S, Gaudiano C, Gambelli S, Sicurelli F, Berti G, Formichi P, Kuqo A, Dotti MT, Federico A.

Neurol Sci. 2013 Jan;34(1):79-83. doi: 10.1007/s10072-012-0956-6. Epub 2012 Jan 25.

PMID:
22274816
46.

Dilated cardiomyopathy and inclusion body myositis.

Ballo P, Chiodi L, Cameli M, Malandrini A, Federico A, Mondillo S, Zuppiroli A.

Neurol Sci. 2012 Apr;33(2):367-70. doi: 10.1007/s10072-011-0766-2. Epub 2011 Sep 16.

PMID:
21922313
47.

Treatment of macular edema because of occlusive vasculitis with bevacizumab (avastin): efficacy of three consecutive monthly injections.

Nuti E, Traversi C, Marigliani D, Balestrazzi A, Alegente M, Martone G, Malandrini A, Romeo N, Mazzotta C, Tosi GM.

Retina. 2011 Oct;31(9):1863-70. doi: 10.1097/IAE.0b013e318219de8b.

PMID:
21799465
48.

Phacoemulsificator and sterile drapes contamination during cataract surgery: a microbiological study.

Balestrazzi A, Malandrini A, Montagnani F, Nguisseu Chegoua GL, Ciompi L, Zanchi A, Tosi GM, Martone GL, Motolese I, Fruschelli M.

Eur J Ophthalmol. 2012 Mar-Apr;22(2):188-94. doi: 10.5301/EJO.2011.8434.

PMID:
21725940
49.

Spastic paraplegia in 'dominant optic atrophy plus' phenotype due to OPA1 mutation.

Pretegiani E, Rufa A, Gallus GN, Cardaioli E, Malandrini A, Federico A.

Brain. 2011 Nov;134(Pt 11):e195. doi: 10.1093/brain/awr101. Epub 2011 Jun 6. No abstract available.

PMID:
21646330
50.

Structural and metabolic damage in brains of patients with SPG11-related spastic paraplegia as detected by quantitative MRI.

Stromillo ML, Malandrini A, Dotti MT, Battaglini M, Borgogni F, Tessa A, Storti E, Denora PS, Santorelli FM, Gaudiano C, Battisti C, Federico A, De Stefano N.

J Neurol. 2011 Dec;258(12):2240-7. doi: 10.1007/s00415-011-6106-x. Epub 2011 May 29.

PMID:
21625935

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