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Items: 1 to 50 of 75

1.

Triheptanoin Supplementation Does not Affect Nutritional Status: A Case Report of Two Siblings With Adult Polyglucosan Body Disease.

De Amicis R, Leone A, Ravasenghi S, Scigliuolo G, Mauro E, Salsano E, Battezzati A, Bertoli S.

J Am Coll Nutr. 2019 Dec 20:1-6. doi: 10.1080/07315724.2019.1695233. [Epub ahead of print]

PMID:
31860384
2.

The first case of the TARDBP p.G294V mutation in a homozygous state: is a single pathogenic allele sufficient to cause ALS?

Corrado L, Pensato V, Croce R, Di Pierro A, Mellone S, Dalla Bella E, Salsano E, Paraboschi EM, Giordano M, Saraceno M, Mazzini L, Gellera C, D'Alfonso S.

Amyotroph Lateral Scler Frontotemporal Degener. 2019 Dec 18:1-7. doi: 10.1080/21678421.2019.1704011. [Epub ahead of print]

PMID:
31852254
3.

RARS1-related hypomyelinating leukodystrophy: Expanding the spectrum.

Mendes MI, Green LMC, Bertini E, Tonduti D, Aiello C, Smith D, Salsano E, Beerepoot S, Hertecant J, von Spiczak S, Livingston JH, Emrick L, Fraser J, Russell L, Bernard G, Magri S, Di Bella D, Taroni F, Koenig MK, Moroni I, Cappuccio G, Brunetti-Pierri N, Rhee J, Mendelsohn BA, Helbig I, Helbig K, Muhle H, Ismayl O, Vanderver AL, Salomons GS, van der Knaap MS, Wolf NI.

Ann Clin Transl Neurol. 2020 Jan;7(1):83-93. doi: 10.1002/acn3.50960. Epub 2019 Dec 8.

4.

Leukoencephalopathy With Predominant Infratentorial Involvement Caused by a Novel ABCD1 Mutation: Does the Spinocerebellar Variant of Adrenoleukodystrophy Exist?

Benzoni C, Farina L, Pensato V, Marotta G, Kuqo A, Mauro E, Pareyson D, Salsano E.

Neurologist. 2019 Nov;24(6):194-197. doi: 10.1097/NRL.0000000000000252.

PMID:
31688712
5.

From congenital microcephaly to adult onset cerebellar ataxia: Distinct and overlapping phenotypes in patients with PNKP gene mutations.

Gatti M, Magri S, Nanetti L, Sarto E, Di Bella D, Salsano E, Pantaleoni C, Mariotti C, Taroni F.

Am J Med Genet A. 2019 Nov;179(11):2277-2283. doi: 10.1002/ajmg.a.61339. Epub 2019 Aug 22.

PMID:
31436889
6.

Novel mutations in SLC16A2 associated with a less severe phenotype of MCT8 deficiency.

Masnada S, Groenweg S, Saletti V, Chiapparini L, Castellotti B, Salsano E, Visser WE, Tonduti D.

Metab Brain Dis. 2019 Dec;34(6):1565-1575. doi: 10.1007/s11011-019-00464-7. Epub 2019 Jul 22.

PMID:
31332729
7.

Saposin B deficiency as a cause of adult-onset metachromatic leukodystrophy.

Fenu S, Castellotti B, Farina L, Cavallaro T, Di Bella D, Benzoni C, Gellera C, Pareyson D, Taroni F, Salsano E.

Neurology. 2019 Aug 13;93(7):310-312. doi: 10.1212/WNL.0000000000007951. Epub 2019 Jul 9. No abstract available.

PMID:
31289144
8.

Neuropsychological features of adult form of Alexander disease.

Draghi L, Salsano E, Farina L, Di Bella D, Fenu S, Pareyson D, Taroni F, Piacentini SHMJ.

J Neurol Sci. 2019 Jun 15;401:87-89. doi: 10.1016/j.jns.2019.04.030. Epub 2019 Apr 23. No abstract available.

PMID:
31039531
9.

Longitudinal quantitative magnetic resonance imaging in adrenomyeloneuropathy.

Politi LS, Castellano A, Papinutto N, Mauro E, Pareyson D, Henry RG, Falini A, Salsano E.

Eur J Neurol. 2019 Oct;26(10):1341-1344. doi: 10.1111/ene.13959. Epub 2019 May 2.

PMID:
30932272
10.

Biopsy-proven primary angiitis of the central nervous system mimicking leukodystrophy: A case report and review of the literature.

Caputi L, Erbetta A, Marucci G, Pareyson D, Eoli M, Servida M, Parati E, Salsano E.

J Clin Neurosci. 2019 Jun;64:42-44. doi: 10.1016/j.jocn.2019.03.021. Epub 2019 Mar 22. Review.

PMID:
30910547
11.

Spinal cord involvement in adult-onset metabolic and genetic diseases.

Marelli C, Salsano E, Politi LS, Labauge P.

J Neurol Neurosurg Psychiatry. 2019 Feb;90(2):211-218. doi: 10.1136/jnnp-2018-318666. Epub 2018 Aug 27. Review.

PMID:
30150321
12.

Primary brain calcification: an international study reporting novel variants and associated phenotypes.

Ramos EM, Carecchio M, Lemos R, Ferreira J, Legati A, Sears RL, Hsu SC, Panteghini C, Magistrelli L, Salsano E, Esposito S, Taroni F, Richard AC, Tranchant C, Anheim M, Ayrignac X, Goizet C, Vidailhet M, Maltete D, Wallon D, Frebourg T, Pimentel L, Geschwind DH, Vanakker O, Galasko D, Fogel BL, Innes AM, Ross A, Dobyns WB, Alcantara D, O'Driscoll M, Hannequin D, Campion D; French PFBC study group, Oliveira JR, Garavaglia B, Coppola G, Nicolas G.

Eur J Hum Genet. 2018 Oct;26(10):1462-1477. doi: 10.1038/s41431-018-0185-4. Epub 2018 Jun 28.

13.

Metachromatic Leukodystrophy: Too Frequent (Mis)Diagnosis?

Politi LS, Salsano E, Biffi A.

JAMA Neurol. 2018 Aug 1;75(8):1027. doi: 10.1001/jamaneurol.2018.1515. No abstract available.

PMID:
29913002
14.

Frontotemporal Dementia and Chorea Associated with a Compound Heterozygous TREM2 Mutation.

Redaelli V, Salsano E, Colleoni L, Corbetta P, Tringali G, Del Sole A, Giaccone G, Rossi G.

J Alzheimers Dis. 2018;63(1):195-201. doi: 10.3233/JAD-180018.

PMID:
29578490
15.

Adult leukoencephalopathies with prominent infratentorial involvement can be caused by Erdheim-Chester disease.

Chiapparini L, Cavalli G, Langella T, Venerando A, De Luca G, Raspante S, Marotta G, Pollo B, Lauria G, Cangi MG, Gerevini S, Botturi A, Pareyson D, Dagna L, Salsano E.

J Neurol. 2018 Feb;265(2):273-284. doi: 10.1007/s00415-017-8692-8. Epub 2017 Dec 4.

PMID:
29204962
16.

Posterior column ataxia with retinitis pigmentosa coexisting with sensory-autonomic neuropathy and leukemia due to the homozygous p.Pro221Ser FLVCR1 mutation.

Castori M, Morlino S, Ungelenk M, Pareyson D, Salsano E, Grammatico P, Tolosano E, Kurth I, Chiabrando D.

Am J Med Genet B Neuropsychiatr Genet. 2017 Oct;174(7):732-739. doi: 10.1002/ajmg.b.32570. Epub 2017 Aug 2.

PMID:
28766925
17.

Lack of benefit of acetyl-dl-leucine in patients with multiple system atrophy of the cerebellar type.

Scigliuolo GM, Sagnelli A, Brenna G, Pareyson D, Salsano E.

J Neurol Sci. 2017 Aug 15;379:12-13. doi: 10.1016/j.jns.2017.05.020. Epub 2017 May 11. No abstract available.

PMID:
28716222
18.

Slow ventricular tachycardia in a 91-year-old man with implantable cardioverter-defibrillator and acute respiratory failure.

Vargas N, Tibullo L, Landi CAE, Carifi G, Landi E, Salsano E, Di Grezia F, Candelmo F.

Am J Emerg Med. 2017 Aug;35(8):1213.e5-1213.e8. doi: 10.1016/j.ajem.2017.05.009. Epub 2017 May 11.

PMID:
28526597
19.

Preliminary Results on Long-Term Potentiation-Like Cortical Plasticity and Cholinergic Dysfunction After Miglustat Treatment in Niemann-Pick Disease Type C.

Benussi A, Cotelli MS, Cosseddu M, Bertasi V, Turla M, Salsano E, Dardis A, Padovani A, Borroni B.

JIMD Rep. 2017;36:19-27. doi: 10.1007/8904_2016_33. Epub 2017 Jan 17.

20.

Hereditary gelsolin amyloidosis (HGA): a neglected cause of bilateral progressive or recurrent facial palsy.

Sagnelli A, Piscosquito G, Di Bella D, Fadda L, Melzi L, Morico A, Ciano C, Taroni F, Facchetti D, Salsano E, Pareyson D.

J Peripher Nerv Syst. 2017 Mar;22(1):59-63. doi: 10.1111/jns.12200.

PMID:
27982499
21.

Caring for critically ill oldest old patients: a clinical review.

Vargas N, Tibullo L, Landi E, Carifi G, Pirone A, Pippo A, Alviggi I, Tizzano R, Salsano E, Di Grezia F, Vargas M.

Aging Clin Exp Res. 2017 Oct;29(5):833-845. doi: 10.1007/s40520-016-0638-y. Epub 2016 Oct 19. Review.

PMID:
27761759
22.

In-vivo brain H1-MR-Spectroscopy identification and quantification of 2-hydroxyglutarate in L-2-Hydroxyglutaric aciduria.

Anghileri E, Bertolino N, Salsano E, Antelmi L, Carpinelli P, Castellotti B, Zucca I, Gellera C, Bisogno R, Caccia C, Cuccarini V.

Brain Res. 2016 Oct 1;1648(Pt A):506-511. doi: 10.1016/j.brainres.2016.08.013. Epub 2016 Aug 16.

PMID:
27543339
23.

Neurofascin-155 as a putative antigen in combined central and peripheral demyelination.

Cortese A, Devaux JJ, Zardini E, Manso C, Taieb G, Carra Dallière C, Merle P, Osera C, Romagnolo S, Visigalli N, Piscosquito G, Salsano E, Alfonsi E, Moglia A, Pareyson D, Marchioni E, Franciotta D.

Neurol Neuroimmunol Neuroinflamm. 2016 Jun 7;3(4):e238. doi: 10.1212/NXI.0000000000000238. eCollection 2016 Aug. No abstract available.

24.

Quantitative MRI of the spinal cord and brain in adrenomyeloneuropathy: in vivo assessment of structural changes.

Castellano A, Papinutto N, Cadioli M, Brugnara G, Iadanza A, Scigliuolo G, Pareyson D, Uziel G, Köhler W, Aubourg P, Falini A, Henry RG, Politi LS, Salsano E.

Brain. 2016 Jun;139(Pt 6):1735-46. doi: 10.1093/brain/aww068. Epub 2016 Apr 11.

PMID:
27068048
25.

Combined central and peripheral demyelination: Clinical features, diagnostic findings, and treatment.

Cortese A, Franciotta D, Alfonsi E, Visigalli N, Zardini E, Diamanti L, Prunetti P, Osera C, Gastaldi M, Berzero G, Pichiecchio A, Piccolo G, Lozza A, Piscosquito G, Salsano E, Ceroni M, Moglia A, Bono G, Pareyson D, Marchioni E.

J Neurol Sci. 2016 Apr 15;363:182-7. doi: 10.1016/j.jns.2016.02.022. Epub 2016 Feb 10.

PMID:
27000248
26.

Early-onset progressive spastic paraplegia caused by a novel TUBB4A mutation: brain MRI and FDG-PET findings.

Sagnelli A, Magri S, Farina L, Chiapparini L, Marotta G, Tonduti D, Consonni M, Scigliuolo GM, Benti R, Pareyson D, Taroni F, Salsano E, Di Bella D.

J Neurol. 2016 Mar;263(3):591-3. doi: 10.1007/s00415-016-8020-8. Epub 2016 Jan 25. No abstract available.

PMID:
26810722
27.

CSF and Blood Levels of GFAP in Alexander Disease

Jany PL, Agosta GE, Benko WS, Eickhoff JC, Keller SR, Köehler W, Koeller D, Mar S, Naidu S, Marie Ness J, Pareyson D, Renaud DL, Salsano E, Schiffmann R, Simon J, Vanderver A, Eichler F, van der Knaap MS, Messing A.

eNeuro. 2015 Oct 1;2(5). pii: ENEURO.0080-15.2015. doi: 10.1523/ENEURO.0080-15.2015. eCollection 2015 Sep.

28.

Spinal and bulbar muscular atrophy and Charcot-Marie-Tooth type 1A: Co-existence of two rare neuromuscular genetic diseases in the same patient.

Sagnelli A, Scaioli V, Piscosquito G, Salsano E, Dalla Bella E, Gellera C, Pareyson D.

Neuromuscul Disord. 2015 Oct;25(10):800-1. doi: 10.1016/j.nmd.2015.07.015. Epub 2015 Jul 29.

PMID:
26298608
29.

A slowly progressive mitochondrial encephalomyopathy widens the spectrum of AIFM1 disorders.

Ardissone A, Piscosquito G, Legati A, Langella T, Lamantea E, Garavaglia B, Salsano E, Farina L, Moroni I, Pareyson D, Ghezzi D.

Neurology. 2015 May 26;84(21):2193-5. doi: 10.1212/WNL.0000000000001613. Epub 2015 May 1. No abstract available.

30.

Leukodystrophy or genetic leukoencephalopathy? Nature does not make leaps.

Salsano E.

Mol Genet Metab. 2015 Apr;114(4):491-3. doi: 10.1016/j.ymgme.2015.02.005. Epub 2015 Feb 27. No abstract available.

PMID:
25748346
31.

Adult polyglucosan body disease: clinical and histological heterogeneity of a large Italian family.

Colombo I, Pagliarani S, Testolin S, Salsano E, Napoli LM, Bordoni A, Salani S, D'Adda E, Morandi L, Farina L, Magri F, Riva M, Prelle A, Sciacco M, Comi GP, Moggio M.

Neuromuscul Disord. 2015 May;25(5):423-8. doi: 10.1016/j.nmd.2015.01.015. Epub 2015 Feb 7.

PMID:
25728520
32.

Human adipose-derived mesenchymal stem cells as a new model of spinal and bulbar muscular atrophy.

Dossena M, Bedini G, Rusmini P, Giorgetti E, Canazza A, Tosetti V, Salsano E, Sagnelli A, Mariotti C, Gellera C, Navone SE, Marfia G, Alessandri G, Corsi F, Parati EA, Pareyson D, Poletti A.

PLoS One. 2014 Nov 13;9(11):e112746. doi: 10.1371/journal.pone.0112746. eCollection 2014.

33.

Subclinical leukodystrophy and infertility in a man with a novel homozygous CLCN2 mutation.

Di Bella D, Pareyson D, Savoiardo M, Farina L, Ciano C, Caldarazzo S, Sagnelli A, Bonato S, Nava S, Bresolin N, Tedeschi G, Taroni F, Salsano E.

Neurology. 2014 Sep 23;83(13):1217-8. doi: 10.1212/WNL.0000000000000812. Epub 2014 Aug 15. No abstract available.

34.

Brain fluorodeoxyglucose PET in adrenoleukodystrophy.

Salsano E, Marotta G, Manfredi V, Giovagnoli AR, Farina L, Savoiardo M, Pareyson D, Benti R, Uziel G.

Neurology. 2014 Sep 9;83(11):981-9. doi: 10.1212/WNL.0000000000000770. Epub 2014 Aug 6.

PMID:
25098542
35.

A new mutation in GJC2 associated with subclinical leukodystrophy.

Abrams CK, Scherer SS, Flores-Obando R, Freidin MM, Wong S, Lamantea E, Farina L, Scaioli V, Pareyson D, Salsano E.

J Neurol. 2014 Oct;261(10):1929-38. doi: 10.1007/s00415-014-7429-1. Epub 2014 Jul 25.

36.

X-linked Charcot-Marie-Tooth type 1: stroke-like presentation of a novel GJB1 mutation.

Sagnelli A, Piscosquito G, Chiapparini L, Ciano C, Salsano E, Saveri P, Milani M, Taroni F, Pareyson D.

J Peripher Nerv Syst. 2014 Jun;19(2):183-6. doi: 10.1111/jns5.12070.

PMID:
24863494
37.

Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48.

Pensato V, Castellotti B, Gellera C, Pareyson D, Ciano C, Nanetti L, Salsano E, Piscosquito G, Sarto E, Eoli M, Moroni I, Soliveri P, Lamperti E, Chiapparini L, Di Bella D, Taroni F, Mariotti C.

Brain. 2014 Jul;137(Pt 7):1907-20. doi: 10.1093/brain/awu121. Epub 2014 May 15.

PMID:
24833714
38.

Novel (ovario) leukodystrophy related to AARS2 mutations.

Dallabona C, Diodato D, Kevelam SH, Haack TB, Wong LJ, Salomons GS, Baruffini E, Melchionda L, Mariotti C, Strom TM, Meitinger T, Prokisch H, Chapman K, Colley A, Rocha H, Ounap K, Schiffmann R, Salsano E, Savoiardo M, Hamilton EM, Abbink TE, Wolf NI, Ferrero I, Lamperti C, Zeviani M, Vanderver A, Ghezzi D, van der Knaap MS.

Neurology. 2014 Jun 10;82(23):2063-71. doi: 10.1212/WNL.0000000000000497. Epub 2014 May 7.

39.

Adult polyglucosan body disease in a patient originally diagnosed with Fabry's disease.

Sagnelli A, Savoiardo M, Marchesi C, Morandi L, Mora M, Morbin M, Farina L, Mazzeo A, Toscano A, Pagliarani S, Lucchiari S, Comi GP, Salsano E, Pareyson D.

Neuromuscul Disord. 2014 Mar;24(3):272-6. doi: 10.1016/j.nmd.2013.11.006. Epub 2013 Nov 19.

PMID:
24380807
40.

Age-related reduction of cerebral ischemic preconditioning: myth or reality?

Della-Morte D, Cacciatore F, Salsano E, Pirozzi G, Del Genio MT, D'Antonio I, Gargiulo G, Palmirotta R, Guadagni F, Rundek T, Abete P.

Clin Interv Aging. 2013;8:1055-61. doi: 10.2147/CIA.S47462. Epub 2013 Aug 8. Review.

41.

Long-term mortality in frail elderly subjects with osteoarthritis.

Cacciatore F, Della-Morte D, Basile C, Mazzella F, Mastrobuoni C, Salsano E, Gargiulo G, Galizia G, Rengo F, Bonaduce D, Abete P.

Rheumatology (Oxford). 2014 Feb;53(2):293-9. doi: 10.1093/rheumatology/ket348. Epub 2013 Oct 23.

PMID:
24158755
42.

Memory loss: do not forget the mammillary bodies.

Prodi E, Salsano E, Catricalà E, Messina S, Pareyson D, Savoiardo M.

Neurol Sci. 2014 Mar;35(3):473-4. doi: 10.1007/s10072-013-1560-0. Epub 2013 Oct 17. No abstract available.

PMID:
24132491
43.

Peripheral neuropathy in mitochondrial disorders.

Pareyson D, Piscosquito G, Moroni I, Salsano E, Zeviani M.

Lancet Neurol. 2013 Oct;12(10):1011-24. doi: 10.1016/S1474-4422(13)70158-3. Review.

PMID:
24050734
44.

Different mutations at V363 MAPT codon are associated with atypical clinical phenotypes and show unusual structural and functional features.

Rossi G, Bastone A, Piccoli E, Morbin M, Mazzoleni G, Fugnanesi V, Beeg M, Del Favero E, Cantù L, Motta S, Salsano E, Pareyson D, Erbetta A, Elia AE, Del Sorbo F, Silani V, Morelli C, Salmona M, Tagliavini F.

Neurobiol Aging. 2014 Feb;35(2):408-17. doi: 10.1016/j.neurobiolaging.2013.08.004. Epub 2013 Sep 7.

PMID:
24018212
45.

Dominant Charcot-Marie-Tooth syndrome and cognate disorders.

Pareyson D, Marchesi C, Salsano E.

Handb Clin Neurol. 2013;115:817-45. doi: 10.1016/B978-0-444-52902-2.00047-3. Review.

PMID:
23931817
46.

Pendular nystagmus in hypomyelinating leukodystrophy.

Bassani R, Pareyson D, D'Incerti L, Di Bella D, Taroni F, Salsano E.

J Clin Neurosci. 2013 Oct;20(10):1443-5. doi: 10.1016/j.jocn.2012.11.014. Epub 2013 Jul 8.

PMID:
23845262
47.

Coexistence of Charcot-Marie-Tooth disease type 1A and anti-MAG neuropathy.

Piscosquito G, Salsano E, Ciano C, Palamara L, Morbin M, Pareyson D.

J Peripher Nerv Syst. 2013 Jun;18(2):185-8. doi: 10.1111/jns5.12029.

PMID:
23781967
48.

Selective theory of mind impairment and cerebellar atrophy: a case report.

Parente A, Manfredi V, Tarallo A, Salsano E, Erbetta A, Pareyson D, Giovagnoli AR.

J Neurol. 2013 Aug;260(8):2166-9. doi: 10.1007/s00415-013-6985-0. Epub 2013 Jun 16. No abstract available.

PMID:
23771507
49.

Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa and cataracts (PHARC) screening in an Italian population.

Criscuolo C, Guacci A, Carbone R, Lieto M, Salsano E, Nanetti L, Michele GD, Filla A.

Eur J Neurol. 2013 Apr;20(4):e60. doi: 10.1111/ene.12056. No abstract available.

PMID:
23490117
50.

An autoinflammatory neurological disease due to interleukin 6 hypersecretion.

Salsano E, Rizzo A, Bedini G, Bernard L, Dall'olio V, Volorio S, Lazzaroni M, Ceccherini I, Lazarevic D, Cittaro D, Stupka E, Paterra R, Farina L, Savoiardo M, Pareyson D, Sciacca FL.

J Neuroinflammation. 2013 Feb 21;10:29. doi: 10.1186/1742-2094-10-29.

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