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Items: 1 to 50 of 292

1.

HTRA1 expression profile and activity on TGF-β signaling in HTRA1 mutation carriers.

Fasano A, Formichi P, Taglia I, Bianchi S, Di Donato I, Battisti C, Federico A, Dotti MT.

J Cell Physiol. 2020 Feb 4. doi: 10.1002/jcp.29609. [Epub ahead of print]

PMID:
32017060
2.

The safety and effectiveness of chenodeoxycholic acid treatment in patients with cerebrotendinous xanthomatosis: two retrospective cohort studies.

Verrips A, Dotti MT, Mignarri A, Stelten BML, Verma S, Federico A.

Neurol Sci. 2019 Dec 20. doi: 10.1007/s10072-019-04169-8. [Epub ahead of print]

PMID:
31863326
3.

Primary familial brain calcification caused by MYORG mutations in an Italian family.

Taglia I, Kuipers DJS, Breedveld GJ, Mignarri A, Dotti MT, Federico A, Bonifati V.

Parkinsonism Relat Disord. 2019 Oct;67:24-26. doi: 10.1016/j.parkreldis.2019.09.021. Epub 2019 Sep 17. No abstract available.

PMID:
31621601
4.

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.

5.

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
6.

Relevance of brain lesion location for cognition in vascular mild cognitive impairment.

Giorgio A, Di Donato I, De Leucio A, Zhang J, Salvadori E, Poggesi A, Diciotti S, Cosottini M, Ciulli S, Inzitari D, Pantoni L, Mascalchi M, Federico A, Dotti MT, De Stefano N; VMCI-Tuscany Study Group.

Neuroimage Clin. 2019;22:101789. doi: 10.1016/j.nicl.2019.101789. Epub 2019 Mar 23.

7.

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.

8.

Functional magnetic resonance imaging with encoding task in patients with mild cognitive impairment and different severity of leukoaraiosis.

Chiti A, Cecchi P, Pesaresi I, Orlandi G, Giannini N, Gialdini G, Terni E, Tognoni G, Volpi L, Pagni C, Ghicopulos I, Siciliano G, Dotti MT, Federico A, Poggesi A, Salvadori E, Pantoni L, Inzitari D, Cosottini M, Bonuccelli U; VMCI-Tuscany Study Group.

Psychiatry Res Neuroimaging. 2018 Dec 30;282:126-131. doi: 10.1016/j.pscychresns.2018.06.012. Epub 2018 Jun 30.

PMID:
30539733
9.

Peak width of skeletonized mean diffusivity (PSMD) as marker of widespread white matter tissue damage in multiple sclerosis.

Vinciguerra C, Giorgio A, Zhang J, Di Donato I, Stromillo ML, Tappa Brocci R, Federico A, Dotti MT, De Stefano N.

Mult Scler Relat Disord. 2019 Jan;27:294-297. doi: 10.1016/j.msard.2018.11.011. Epub 2018 Nov 13.

PMID:
30448470
10.

RARE POMC MUTATION IN A PATIENT WITH MYOTONIC DYSTROPHY TYPE 1 AND ADRENOCORTICOTROPIN HYPERRESPONSE TO CORTICOTROPIN-RELEASING HORMONE.

Cantara S, Chiofalo F, Ciuoli C, Marzocchi C, Dotti MT, Carla M, Castagna MG, Giannini F.

AACE Clin Case Rep. 2018 Oct 5;5(2):e132-e137. doi: 10.4158/ACCR-2018-0382. eCollection 2019 Mar-Apr.

11.

Blood-brain barrier permeability in a patient with Labrune syndrome due to SNORD118 mutations.

Taglia I, Di Donato I, De Stefano N, Bianchi S, Galluzzi P, Federico A, Dotti MT.

Eur J Neurol. 2018 Aug;25(8):e86-e87. doi: 10.1111/ene.13656. No abstract available.

PMID:
29984895
12.

The analysis of myotonia congenita mutations discloses functional clusters of amino acids within the CBS2 domain and the C-terminal peptide of the ClC-1 channel.

Altamura C, Lucchiari S, Sahbani D, Ulzi G, Comi GP, D'Ambrosio P, Petillo R, Politano L, Vercelli L, Mongini T, Dotti MT, Cardani R, Meola G, Lo Monaco M, Matthews E, Hanna MG, Carratù MR, Conte D, Imbrici P, Desaphy JF.

Hum Mutat. 2018 Sep;39(9):1273-1283. doi: 10.1002/humu.23581. Epub 2018 Jul 4.

13.

AARS2-related ovarioleukodystrophy: Clinical and neuroimaging features of three new cases.

Taglia I, Di Donato I, Bianchi S, Cerase A, Monti L, Marconi R, Orrico A, Rufa A, Federico A, Dotti MT.

Acta Neurol Scand. 2018 Oct;138(4):278-283. doi: 10.1111/ane.12954. Epub 2018 May 10.

PMID:
29749055
14.

Anti-Saccades in Cerebellar Ataxias Reveal a Contribution of the Cerebellum in Executive Functions.

Pretegiani E, Piu P, Rosini F, Federighi P, Serchi V, Tumminelli G, Dotti MT, Federico A, Rufa A.

Front Neurol. 2018 Apr 23;9:274. doi: 10.3389/fneur.2018.00274. eCollection 2018.

15.

Application of the DSM-5 Criteria for Major Neurocognitive Disorder to Vascular MCI Patients.

Salvadori E, Poggesi A, Pracucci G, Chiti A, Ciolli L, Cosottini M, Del Bene A, De Stefano N, Diciotti S, Di Donato I, Ginestroni A, Marini S, Mascalchi M, Nannucci S, Orlandi G, Pasi M, Pescini F, Valenti R, Federico A, Dotti MT, Bonuccelli U, Inzitari D, Pantoni L; VMCI-Tuscany Study Group.

Dement Geriatr Cogn Dis Extra. 2018 Mar 29;8(1):104-116. doi: 10.1159/000487130. eCollection 2018 Jan-Apr.

16.

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
17.

Brachial plexopathy due to breast cancer metastases: electrophysiological and imaging findings.

Peppoloni G, Baglioni T, Dotti MT, Fausto A, Mignarri A.

Neurol Sci. 2018 Aug;39(8):1503-1505. doi: 10.1007/s10072-018-3320-7. Epub 2018 Mar 15. No abstract available.

PMID:
29546605
18.

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
19.

Location, number and factors associated with cerebral microbleeds in an Italian-British cohort of CADASIL patients.

Nannucci S, Rinnoci V, Pracucci G, MacKinnon AD, Pescini F, Adib-Samii P, Bianchi S, Dotti MT, Federico A, Inzitari D, Markus HS, Pantoni L.

PLoS One. 2018 Jan 25;13(1):e0190878. doi: 10.1371/journal.pone.0190878. eCollection 2018.

20.

Cerebral Mitochondrial Microangiopathy Leads to Leukoencephalopathy in Mitochondrial Neurogastrointestinal Encephalopathy.

Gramegna LL, Pisano A, Testa C, Manners DN, D'Angelo R, Boschetti E, Giancola F, Pironi L, Caporali L, Capristo M, Valentino ML, Plazzi G, Casali C, Dotti MT, Cenacchi G, Hirano M, Giordano C, Parchi P, Rinaldi R, De Giorgio R, Lodi R, Carelli V, Tonon C.

AJNR Am J Neuroradiol. 2018 Mar;39(3):427-434. doi: 10.3174/ajnr.A5507. Epub 2018 Jan 18.

21.

SPG5 siblings with different phenotypes showing reduction of 27-hydroxycholesterol after simvastatin-ezetimibe treatment.

Mignarri A, Carecchio M, Del Puppo M, Magistrelli L, Di Bella D, Monti L, Dotti MT.

J Neurol Sci. 2017 Dec 15;383:39-41. doi: 10.1016/j.jns.2017.10.022. Epub 2017 Oct 16. No abstract available.

PMID:
29246618
22.

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
23.

Genotype-phenotype and OCT correlations in Autosomal Dominant Optic Atrophy related to OPA1 gene mutations: Report of 13 Italian families.

Pretegiani E, Rosini F, Rufa A, Gallus GN, Cardaioli E, Da Pozzo P, Bianchi S, Serchi V, Collura M, Franceschini R, Bianchi Marzoli S, Dotti MT, Federico A.

J Neurol Sci. 2017 Nov 15;382:29-35. doi: 10.1016/j.jns.2017.09.018. Epub 2017 Sep 14.

PMID:
29111013
24.

Heterozygous mutations of HTRA1 gene in patients with familial cerebral small vessel disease.

Di Donato I, Bianchi S, Gallus GN, Cerase A, Taglia I, Pescini F, Nannucci S, Battisti C, Inzitari D, Pantoni L, Zini A, Federico A, Dotti MT.

CNS Neurosci Ther. 2017 Sep;23(9):759-765. doi: 10.1111/cns.12722. Epub 2017 Aug 6.

25.

Lower medulla hypoplasia in Friedreich ataxia: MR Imaging confirmation 140 years later.

Mascalchi M, Bianchi A, Ciulli S, Ginestroni A, Aiello M, Dotti MT, Salvi F, Nicolai E, Soricelli A, Diciotti S.

J Neurol. 2017 Jul;264(7):1526-1528. doi: 10.1007/s00415-017-8542-8. Epub 2017 Jun 15. No abstract available.

PMID:
28620720
26.

Pregnancy in CADASIL.

Donnini I, Rinnoci V, Nannucci S, Valenti R, Pescini F, Mariani G, Bianchi S, Dotti MT, Federico A, Inzitari D, Pantoni L.

Acta Neurol Scand. 2017 Dec;136(6):668-671. doi: 10.1111/ane.12784. Epub 2017 Jun 12.

PMID:
28608406
27.

Neuroendocrine lung cancer in a patient with limbic encephalopathy due to anti-Hu antibodies: A rare association not to be missed.

Pati AR, Battisti C, Tripodi SA, Cerase A, Vella A, Guidi L, Mignarri A, Dotti MT, Federico A.

J Neurol Sci. 2017 Jul 15;378:91-93. doi: 10.1016/j.jns.2017.04.032. Epub 2017 Apr 20. No abstract available.

PMID:
28566188
28.

Vitamin D levels in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).

Carluccio MA, Di Donato I, Pescini F, Battaglini M, Bianchi S, Valenti R, Nannucci S, Franci B, Stromillo ML, De Stefano N, Inzitari D, Pantoni L, Nuti R, Federico A, Gonnelli S, Dotti MT.

Neurol Sci. 2017 Jul;38(7):1333-1336. doi: 10.1007/s10072-017-2900-2. Epub 2017 Apr 4.

PMID:
28378255
29.

The spectrum of magnetic resonance findings in cerebrotendinous xanthomatosis: redefinition and evidence of new markers of disease progression.

Mignarri A, Dotti MT, Federico A, De Stefano N, Battaglini M, Grazzini I, Galluzzi P, Monti L.

J Neurol. 2017 May;264(5):862-874. doi: 10.1007/s00415-017-8440-0. Epub 2017 Mar 21.

PMID:
28324197
30.

Liver transplant reverses biochemical imbalance in mitochondrial neurogastrointestinal encephalomyopathy.

D'Angelo R, Rinaldi R, Pironi L, Dotti MT, Pinna AD, Boschetti E, Capristo M, Mohamed S, Contin M, Caporali L, Carelli V, De Giorgio R.

Mitochondrion. 2017 May;34:101-102. doi: 10.1016/j.mito.2017.02.006. Epub 2017 Mar 2. No abstract available.

PMID:
28263873
31.

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.

32.

Erratum: Validation of plasma microRNAs as biomarkers for myotonic dystrophy type 1.

Perfetti A, Greco S, Cardani R, Fossati B, Cuomo G, Valaperta R, Ambrogi F, Cortese A, Botta A, Mignarri A, Santoro M, Gaetano C, Costa E, Dotti MT, Silvestri G, Massa R, Meola G, Martelli F.

Sci Rep. 2017 Feb 22;7:43074. doi: 10.1038/srep43074. No abstract available.

33.

The role of dentate nuclei in human oculomotor control: insights from cerebrotendinous xanthomatosis.

Rosini F, Pretegiani E, Mignarri A, Optican LM, Serchi V, De Stefano N, Battaglini M, Monti L, Dotti MT, Federico A, Rufa A.

J Physiol. 2017 Jun 1;595(11):3607-3620. doi: 10.1113/JP273670. Epub 2017 Mar 14.

34.

Neuromuscular excitability changes produced by sustained voluntary contraction and response to mexiletine in myotonia congenita.

Ginanneschi F, Mignarri A, Lucchiari S, Ulzi G, Comi GP, Rossi A, Dotti MT.

Neurophysiol Clin. 2017 Jun;47(3):247-252. doi: 10.1016/j.neucli.2017.01.003. Epub 2017 Jan 30.

35.

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
36.

Validation of plasma microRNAs as biomarkers for myotonic dystrophy type 1.

Perfetti A, Greco S, Cardani R, Fossati B, Cuomo G, Valaperta R, Ambrogi F, Cortese A, Botta A, Mignarri A, Santoro M, Gaetano C, Costa E, Dotti MT, Silvestri G, Massa R, Meola G, Martelli F.

Sci Rep. 2016 Dec 1;6:38174. doi: 10.1038/srep38174. Erratum in: Sci Rep. 2017 Feb 22;7:43074.

37.

Circulating Biomarkers in Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy Patients.

Pescini F, Donnini I, Cesari F, Nannucci S, Valenti R, Rinnoci V, Poggesi A, Gori AM, Giusti B, Rogolino A, Carluccio A, Bianchi S, Dotti MT, Federico A, Balestrino M, Adriano E, Abbate R, Inzitari D, Pantoni L.

J Stroke Cerebrovasc Dis. 2017 Apr;26(4):823-833. doi: 10.1016/j.jstrokecerebrovasdis.2016.10.027. Epub 2016 Nov 18.

PMID:
27876311
38.

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
39.

C9ORF72 gene expansion in a patient with intellectual disability and psychiatric disease.

Pati AR, Battisti C, Battistini S, Ricci C, Trapassi A, Marconi R, Mignarri A, Federico A, Dotti MT.

Neurol Sci. 2017 Jan;38(1):207-208. doi: 10.1007/s10072-016-2709-4. Epub 2016 Sep 19. No abstract available.

PMID:
27646412
40.

Oxidative stress-induced apoptosis in peripheral blood lymphocytes from patients with POLG-related disorders.

Formichi P, Radi E, Branca C, Battisti C, Brunetti J, Da Pozzo P, Giannini F, Dotti MT, Bracci L, Federico A.

J Neurol Sci. 2016 Sep 15;368:359-68. doi: 10.1016/j.jns.2016.07.047. Epub 2016 Jul 25.

PMID:
27538665
41.

Nicolaides-Baraitser syndrome: defining a phenotype.

Pretegiani E, Mari F, Renieri A, Penco S, Dotti MT.

J Neurol. 2016 Aug;263(8):1659-60. doi: 10.1007/s00415-016-8194-0. Epub 2016 Jun 10. No abstract available.

PMID:
27286846
42.

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
43.

Cerebrotendinous Xanthomatosis.

Federico A, Dotti MT, Gallus GN.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020.
2003 Jul 16 [updated 2016 Apr 14].

44.

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
45.

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
46.

Cerebellar hypometabolism with normal structural findings in Cerebrotendinous xanthomatosis. A case report.

Ragno M, Di Marzio F, Fuccio C, Pianese L, Cozzolino V, Carboni T, Cinti A, D'Andreamatteo G, Trojano L, Mignarri A, Gallus GN, Dotti MT.

Clin Neurol Neurosurg. 2015 Dec;139:221-3. doi: 10.1016/j.clineuro.2015.10.020. Epub 2015 Oct 17. No abstract available.

PMID:
26519892
47.

A Novel CSF1R Mutation in a Patient with Clinical and Neuroradiological Features of Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids.

Di Donato I, Stabile C, Bianchi S, Taglia I, Mignarri A, Salvatore S, Giorgio E, Brusco A, Simone I, Dotti MT, Federico A.

J Alzheimers Dis. 2015;47(2):319-22. doi: 10.3233/JAD-150097.

48.

Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy.

Halter JP, Michael W, Schüpbach M, Mandel H, Casali C, Orchard K, Collin M, Valcarcel D, Rovelli A, Filosto M, Dotti MT, Marotta G, Pintos G, Barba P, Accarino A, Ferra C, Illa I, Beguin Y, Bakker JA, Boelens JJ, de Coo IF, Fay K, Sue CM, Nachbaur D, Zoller H, Sobreira C, Pinto Simoes B, Hammans SR, Savage D, Martí R, Chinnery PF, Elhasid R, Gratwohl A, Hirano M.

Brain. 2015 Oct;138(Pt 10):2847-58. doi: 10.1093/brain/awv226. Epub 2015 Aug 10.

49.

Regional Cerebral Disease Progression in Friedreich's Ataxia: A Longitudinal Diffusion Tensor Imaging Study.

Mascalchi M, Toschi N, Giannelli M, Ginestroni A, Della Nave R, Tessa C, Piacentini S, Dotti MT, Aiello M, Nicolai E, Soricelli A, Salvi F, Diciotti S.

J Neuroimaging. 2016 Mar-Apr;26(2):197-200. doi: 10.1111/jon.12270. Epub 2015 Jul 14.

PMID:
26175281
50.

Evaluation of cholesterol metabolism in cerebrotendinous xanthomatosis.

Mignarri A, Magni A, Del Puppo M, Gallus GN, Björkhem I, Federico A, Dotti MT.

J Inherit Metab Dis. 2016 Jan;39(1):75-83. doi: 10.1007/s10545-015-9873-1. Epub 2015 Jul 8.

PMID:
26153518

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