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Items: 1 to 50 of 92

1.

Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features.

Berkovic SF, Oliver KL, Canafoglia L, Krieger P, Damiano JA, Hildebrand MS, Morbin M, Vears DF, Sofia V, Giuliano L, Garavaglia B, Simonati A, Santorelli FM, Gambardella A, Labate A, Belcastro V, Castellotti B, Ozkara C, Zeman A, Rankin J, Mole SE, Aguglia U, Farrell M, Rajagopalan S, McDougall A, Brammah S, Andermann F, Andermann E, Dahl HM, Franceschetti S, Carpenter S.

Brain. 2019 Jan 1;142(1):59-69. doi: 10.1093/brain/awy297.

PMID:
30561534
2.

A Novel Focal Seizure Pattern Generated in Superficial Layers of the Olfactory Cortex.

Uva L, Saccucci S, Chikhladze M, Tassi L, Gnatkovsky V, Milesi G, Morbin M, de Curtis M.

J Neurosci. 2017 Mar 29;37(13):3544-3554. doi: 10.1523/JNEUROSCI.2239-16.2016. Epub 2017 Mar 6.

3.

Screening for SH3TC2 gene mutations in a series of demyelinating recessive Charcot-Marie-Tooth disease (CMT4).

Piscosquito G, Saveri P, Magri S, Ciano C, Gandioli C, Morbin M, Bella DD, Moroni I, Taroni F, Pareyson D.

J Peripher Nerv Syst. 2016 Sep;21(3):142-9. doi: 10.1111/jns.12175.

4.

The diagnostic challenge of Divry van Bogaert and Sneddon Syndrome: Report of three cases and literature review.

Bersano A, Morbin M, Ciceri E, Bedini G, Berlit P, Herold M, Saccucci S, Fugnanesi V, Nordmeyer H, Faragò G, Savoiardo M, Taroni F, Carriero M, Boncoraglio Giorgio B, Perucca L, Caputi L, Parati Eugenio A, Kraemer M.

J Neurol Sci. 2016 May 15;364:77-83. doi: 10.1016/j.jns.2016.03.011. Epub 2016 Mar 5. Review.

PMID:
27084221
5.

A 52-Year-Old Man with Myoclonic Jerks.

Giaccone G, Carella F, Parravicini C, Longhi E, Chiapparini L, Savoiardo M, Montano N, Morbin M, Albanese A, Tagliavini F.

Brain Pathol. 2016 Mar;26(2):291-2. doi: 10.1111/bpa.12359. No abstract available.

PMID:
27000489
6.

Loss of exosomes in progranulin-associated frontotemporal dementia.

Benussi L, Ciani M, Tonoli E, Morbin M, Palamara L, Albani D, Fusco F, Forloni G, Glionna M, Baco M, Paterlini A, Fostinelli S, Santini B, Galbiati E, Gagni P, Cretich M, Binetti G, Tagliavini F, Prosperi D, Chiari M, Ghidoni R.

Neurobiol Aging. 2016 Apr;40:41-49. doi: 10.1016/j.neurobiolaging.2016.01.001. Epub 2016 Jan 7.

PMID:
26973102
7.

Tackling amyloidogenesis in Alzheimer's disease with A2V variants of Amyloid-β.

Di Fede G, Catania M, Maderna E, Morbin M, Moda F, Colombo L, Rossi A, Cagnotto A, Virgilio T, Palamara L, Ruggerone M, Giaccone G, Campagnani I, Costanza M, Pedotti R, Salvalaglio M, Salmona M, Tagliavini F.

Sci Rep. 2016 Feb 11;6:20949. doi: 10.1038/srep20949.

8.

Measles Inclusion-Body Encephalitis: Neuronal Phosphorylated Tau Protein is Present in the Biopsy but not in the Autoptic Specimens of the Same Patient.

Maderna E, Fugnanesi V, Morbin M, Cacciatore F, Spinello S, Godani M, Zoia R, Tagliavini F, Giaccone G.

Brain Pathol. 2016 Jul;26(4):542-6. doi: 10.1111/bpa.12332. Epub 2015 Dec 13.

PMID:
26462994
9.

Type II focal cortical dysplasia: Ex vivo 7T magnetic resonance imaging abnormalities and histopathological comparisons.

Zucca I, Milesi G, Medici V, Tassi L, Didato G, Cardinale F, Tringali G, Colombo N, Bramerio M, D'Incerti L, Freri E, Morbin M, Fugnanesi V, Figini M, Spreafico R, Garbelli R.

Ann Neurol. 2016 Jan;79(1):42-58. doi: 10.1002/ana.24541. Epub 2015 Nov 26.

PMID:
26448158
10.

A novel mutation af Cln3 associated with delayed-classic juvenile ceroid lipofuscinois and autophagic vacuolar myopathy.

Licchetta L, Bisulli F, Fietz M, Valentino ML, Morbin M, Mostacci B, Oliver KL, Berkovic SF, Tinuper P.

Eur J Med Genet. 2015 Oct;58(10):540-4. doi: 10.1016/j.ejmg.2015.09.002. Epub 2015 Sep 7.

PMID:
26360874
11.

Electroclinical spectrum of the neuronal ceroid lipofuscinoses associated with CLN6 mutations.

Canafoglia L, Gilioli I, Invernizzi F, Sofia V, Fugnanesi V, Morbin M, Chiapparini L, Granata T, Binelli S, Scaioli V, Garavaglia B, Nardocci N, Berkovic SF, Franceschetti S.

Neurology. 2015 Jul 28;85(4):316-24. doi: 10.1212/WNL.0000000000001784. Epub 2015 Jun 26.

12.

NO-donor thiacarbocyanines as multifunctional agents for Alzheimer's disease.

Chegaev K, Federico A, Marini E, Rolando B, Fruttero R, Morbin M, Rossi G, Fugnanesi V, Bastone A, Salmona M, Badiola NB, Gasparini L, Cocco S, Ripoli C, Grassi C, Gasco A.

Bioorg Med Chem. 2015 Aug 1;23(15):4688-98. doi: 10.1016/j.bmc.2015.05.050. Epub 2015 Jun 3.

13.

Presynaptic c-Jun N-terminal Kinase 2 regulates NMDA receptor-dependent glutamate release.

Nisticò R, Florenzano F, Mango D, Ferraina C, Grilli M, Di Prisco S, Nobili A, Saccucci S, D'Amelio M, Morbin M, Marchi M, Mercuri NB, Davis RJ, Pittaluga A, Feligioni M.

Sci Rep. 2015 Mar 12;5:9035. doi: 10.1038/srep09035.

14.

Melanoma cells homing to the brain: an in vitro model.

Rizzo A, Vasco C, Girgenti V, Fugnanesi V, Calatozzolo C, Canazza A, Salmaggi A, Rivoltini L, Morbin M, Ciusani E.

Biomed Res Int. 2015;2015:476069. doi: 10.1155/2015/476069. Epub 2015 Jan 26.

15.

Pentraxin-3 and VEGF in POEMS syndrome: a 2-year longitudinal study.

Briani C, Dalla Torre C, Lessi F, Cavallaro T, Scarlato M, Ferrari S, Campagnolo M, Lucchetta M, Cabrini I, Morbin M, Lauria G, Adami F, Manfredi AA.

J Neuroimmunol. 2014 Dec 15;277(1-2):189-92. doi: 10.1016/j.jneuroim.2014.09.021. Epub 2014 Oct 5.

PMID:
25447599
16.

The peculiar role of the A2V mutation in amyloid-β (Aβ) 1-42 molecular assembly.

Messa M, Colombo L, del Favero E, Cantù L, Stoilova T, Cagnotto A, Rossi A, Morbin M, Di Fede G, Tagliavini F, Salmona M.

J Biol Chem. 2014 Aug 29;289(35):24143-52. doi: 10.1074/jbc.M114.576256. Epub 2014 Jul 18.

17.

Recurrent generalized seizures, visual loss, and palinopsia as phenotypic features of neuronal ceroid lipofuscinosis due to progranulin gene mutation.

Canafoglia L, Morbin M, Scaioli V, Pareyson D, D'Incerti L, Fugnanesi V, Tagliavini F, Berkovic SF, Franceschetti S.

Epilepsia. 2014 Jun;55(6):e56-9. doi: 10.1111/epi.12632. Epub 2014 Apr 29.

18.

Heterozygous D90A-SOD1 mutation in a patient with facial onset sensory motor neuronopathy (FOSMN) syndrome: a bridge to amyotrophic lateral sclerosis.

Dalla Bella E, Rigamonti A, Mantero V, Morbin M, Saccucci S, Gellera C, Mora G, Lauria G.

J Neurol Neurosurg Psychiatry. 2014 Sep;85(9):1009-11. doi: 10.1136/jnnp-2013-307416. Epub 2014 Mar 3.

PMID:
24591457
19.

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
20.

Pantethine treatment is effective in recovering the disease phenotype induced by ketogenic diet in a pantothenate kinase-associated neurodegeneration mouse model.

Brunetti D, Dusi S, Giordano C, Lamperti C, Morbin M, Fugnanesi V, Marchet S, Fagiolari G, Sibon O, Moggio M, d'Amati G, Tiranti V.

Brain. 2014 Jan;137(Pt 1):57-68. doi: 10.1093/brain/awt325. Epub 2013 Dec 6.

21.

Stem cell salvage of injured peripheral nerve.

Grimoldi N, Colleoni F, Tiberio F, Vetrano IG, Cappellari A, Costa A, Belicchi M, Razini P, Giordano R, Spagnoli D, Pluderi M, Gatti S, Morbin M, Gaini SM, Rebulla P, Bresolin N, Torrente Y.

Cell Transplant. 2015;24(2):213-22. doi: 10.3727/096368913X675700. Epub 2013 Nov 21.

PMID:
24268028
22.

Ischemic stroke as clinical onset of POEMS syndrome.

Dacci P, Lessi F, Dalla Bella E, Morbin M, Briani C, Lauria G.

J Neurol. 2013 Dec;260(12):3178-81. doi: 10.1007/s00415-013-7180-z. Epub 2013 Nov 13. No abstract available.

PMID:
24221644
23.

Therapy in prion diseases.

Forloni G, Artuso V, Roiter I, Morbin M, Tagliavini F.

Curr Top Med Chem. 2013;13(19):2465-76. Review.

PMID:
24059336
24.

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
25.

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
26.

Adult-onset Alexander disease, associated with a mutation in an alternative GFAP transcript, may be phenotypically modulated by a non-neutral HDAC6 variant.

Melchionda L, Fang M, Wang H, Fugnanesi V, Morbin M, Liu X, Li W, Ceccherini I, Farina L, Savoiardo M, D'Adamo P, Zhang J, Costa A, Ravaglia S, Ghezzi D, Zeviani M.

Orphanet J Rare Dis. 2013 May 1;8:66. doi: 10.1186/1750-1172-8-66.

27.

Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis.

Smith KR, Dahl HH, Canafoglia L, Andermann E, Damiano J, Morbin M, Bruni AC, Giaccone G, Cossette P, Saftig P, Grötzinger J, Schwake M, Andermann F, Staropoli JF, Sims KB, Mole SE, Franceschetti S, Alexander NA, Cooper JD, Chapman HA, Carpenter S, Berkovic SF, Bahlo M.

Hum Mol Genet. 2013 Apr 1;22(7):1417-23. doi: 10.1093/hmg/dds558. Epub 2013 Jan 7.

28.

Myelin protein zero Arg36Gly mutation with very late onset and rapidly progressive painful neuropathy.

Dacci P, Taroni F, Bella ED, Milani M, Pareyson D, Morbin M, Lauria G.

J Peripher Nerv Syst. 2012 Dec;17(4):422-5. doi: 10.1111/j.1529-8027.2012.00443.x.

PMID:
23279346
29.

Loss of prohibitin membrane scaffolds impairs mitochondrial architecture and leads to tau hyperphosphorylation and neurodegeneration.

Merkwirth C, Martinelli P, Korwitz A, Morbin M, Brönneke HS, Jordan SD, Rugarli EI, Langer T.

PLoS Genet. 2012;8(11):e1003021. doi: 10.1371/journal.pgen.1003021. Epub 2012 Nov 8.

30.

APP mutations in the Aβ coding region are associated with abundant cerebral deposition of Aβ38.

Moro ML, Giaccone G, Lombardi R, Indaco A, Uggetti A, Morbin M, Saccucci S, Di Fede G, Catania M, Walsh DM, Demarchi A, Rozemuller A, Bogdanovic N, Bugiani O, Ghetti B, Tagliavini F.

Acta Neuropathol. 2012 Dec;124(6):809-21. doi: 10.1007/s00401-012-1061-x. Epub 2012 Nov 13. Erratum in: Acta Neuropathol. 2013 Mar;125(3):467.

PMID:
23143229
31.

Pantothenate kinase-associated neurodegeneration: altered mitochondria membrane potential and defective respiration in Pank2 knock-out mouse model.

Brunetti D, Dusi S, Morbin M, Uggetti A, Moda F, D'Amato I, Giordano C, d'Amati G, Cozzi A, Levi S, Hayflick S, Tiranti V.

Hum Mol Genet. 2012 Dec 15;21(24):5294-305. doi: 10.1093/hmg/dds380. Epub 2012 Sep 13.

32.

Brain delivery of AAV9 expressing an anti-PrP monovalent antibody delays prion disease in mice.

Moda F, Vimercati C, Campagnani I, Ruggerone M, Giaccone G, Morbin M, Zentilin L, Giacca M, Zucca I, Legname G, Tagliavini F.

Prion. 2012 Sep-Oct;6(4):383-90. doi: 10.4161/pri.20197. Epub 2012 Jul 30.

33.

Blurring in patients with temporal lobe epilepsy: clinical, high-field imaging and ultrastructural study.

Garbelli R, Milesi G, Medici V, Villani F, Didato G, Deleo F, D'Incerti L, Morbin M, Mazzoleni G, Giovagnoli AR, Parente A, Zucca I, Mastropietro A, Spreafico R.

Brain. 2012 Aug;135(Pt 8):2337-49. doi: 10.1093/brain/aws149. Epub 2012 Jun 22.

PMID:
22734123
34.

Good gene, bad gene: new APP variant may be both.

Di Fede G, Catania M, Morbin M, Giaccone G, Moro ML, Ghidoni R, Colombo L, Messa M, Cagnotto A, Romeo M, Stravalaci M, Diomede L, Gobbi M, Salmona M, Tagliavini F.

Prog Neurobiol. 2012 Dec;99(3):281-92. doi: 10.1016/j.pneurobio.2012.06.004. Epub 2012 Jun 19. Review.

PMID:
22727994
35.

Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage.

Smith KR, Damiano J, Franceschetti S, Carpenter S, Canafoglia L, Morbin M, Rossi G, Pareyson D, Mole SE, Staropoli JF, Sims KB, Lewis J, Lin WL, Dickson DW, Dahl HH, Bahlo M, Berkovic SF.

Am J Hum Genet. 2012 Jun 8;90(6):1102-7. doi: 10.1016/j.ajhg.2012.04.021. Epub 2012 May 17.

36.

Optimal plasma progranulin cutoff value for predicting null progranulin mutations in neurodegenerative diseases: a multicenter Italian study.

Ghidoni R, Stoppani E, Rossi G, Piccoli E, Albertini V, Paterlini A, Glionna M, Pegoiani E, Agnati LF, Fenoglio C, Scarpini E, Galimberti D, Morbin M, Tagliavini F, Binetti G, Benussi L.

Neurodegener Dis. 2012;9(3):121-7. doi: 10.1159/000333132. Epub 2011 Nov 26.

PMID:
22123177
37.

New mutations in MAPT gene causing frontotemporal lobar degeneration: biochemical and structural characterization.

Rossi G, Bastone A, Piccoli E, Mazzoleni G, Morbin M, Uggetti A, Giaccone G, Sperber S, Beeg M, Salmona M, Tagliavini F.

Neurobiol Aging. 2012 Apr;33(4):834.e1-6. doi: 10.1016/j.neurobiolaging.2011.08.008. Epub 2011 Sep 22.

PMID:
21943955
38.

Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6.

Arsov T, Smith KR, Damiano J, Franceschetti S, Canafoglia L, Bromhead CJ, Andermann E, Vears DF, Cossette P, Rajagopalan S, McDougall A, Sofia V, Farrell M, Aguglia U, Zini A, Meletti S, Morbin M, Mullen S, Andermann F, Mole SE, Bahlo M, Berkovic SF.

Am J Hum Genet. 2011 May 13;88(5):566-73. doi: 10.1016/j.ajhg.2011.04.004. Epub 2011 May 5.

39.

Four novel cases of periaxin-related neuropathy and review of the literature.

Marchesi C, Milani M, Morbin M, Cesani M, Lauria G, Scaioli V, Piccolo G, Fabrizi GM, Cavallaro T, Taroni F, Pareyson D.

Neurology. 2010 Nov 16;75(20):1830-8. doi: 10.1212/WNL.0b013e3181fd6314. Review.

PMID:
21079185
40.

Peripheral Nerve Society Guideline on processing and evaluation of nerve biopsies.

Sommer CL, Brandner S, Dyck PJ, Harati Y, LaCroix C, Lammens M, Magy L, Mellgren SI, Morbin M, Navarro C, Powell HC, Schenone AE, Tan E, Urtizberea A, Weis J; Peripheral Nerve Society.

J Peripher Nerv Syst. 2010 Sep;15(3):164-75. doi: 10.1111/j.1529-8027.2010.00276.x.

PMID:
21040138
41.

A novel class of potential prion drugs: preliminary in vitro and in vivo data for multilayer coated gold nanoparticles.

Ai Tran HN, Sousa F, Moda F, Mandal S, Chanana M, Vimercati C, Morbin M, Krol S, Tagliavini F, Legname G.

Nanoscale. 2010 Dec;2(12):2724-32. doi: 10.1039/c0nr00551g. Epub 2010 Oct 14.

PMID:
20944860
42.

Neuropathology of the recessive A673V APP mutation: Alzheimer disease with distinctive features.

Giaccone G, Morbin M, Moda F, Botta M, Mazzoleni G, Uggetti A, Catania M, Moro ML, Redaelli V, Spagnoli A, Rossi RS, Salmona M, Di Fede G, Tagliavini F.

Acta Neuropathol. 2010 Dec;120(6):803-12. doi: 10.1007/s00401-010-0747-1. Epub 2010 Sep 15.

PMID:
20842367
43.

Hereditary cerebral hemorrhage with amyloidosis associated with the E693K mutation of APP.

Bugiani O, Giaccone G, Rossi G, Mangieri M, Capobianco R, Morbin M, Mazzoleni G, Cupidi C, Marcon G, Giovagnoli A, Bizzi A, Di Fede G, Puoti G, Carella F, Salmaggi A, Romorini A, Patruno GM, Magoni M, Padovani A, Tagliavini F.

Arch Neurol. 2010 Aug;67(8):987-95. doi: 10.1001/archneurol.2010.178.

PMID:
20697050
44.

Novel mutations in the GDAP1 gene in patients affected with early-onset axonal Charcot-Marie-Tooth type 4A.

Moroni I, Morbin M, Milani M, Ciano C, Bugiani M, Pagliano E, Cavallaro T, Pareyson D, Taroni F.

Neuromuscul Disord. 2009 Jul;19(7):476-80. doi: 10.1016/j.nmd.2009.04.014. Epub 2009 Jun 4.

PMID:
19500985
45.

A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function.

Vantaggiato C, Redaelli F, Falcone S, Perrotta C, Tonelli A, Bondioni S, Morbin M, Riva D, Saletti V, Bonaglia MC, Giorda R, Bresolin N, Clementi E, Bassi MT.

Hum Mutat. 2009 Jul;30(7):1104-16. doi: 10.1002/humu.21012.

PMID:
19431184
46.

Heterologous stacking of prion protein peptides reveals structural details of fibrils and facilitates complete inhibition of fibril growth.

Boshuizen RS, Schulz V, Morbin M, Mazzoleni G, Meloen RH, Langedijk JP.

J Biol Chem. 2009 May 8;284(19):12809-20. doi: 10.1074/jbc.M809151200. Epub 2009 Mar 19.

47.

A recessive mutation in the APP gene with dominant-negative effect on amyloidogenesis.

Di Fede G, Catania M, Morbin M, Rossi G, Suardi S, Mazzoleni G, Merlin M, Giovagnoli AR, Prioni S, Erbetta A, Falcone C, Gobbi M, Colombo L, Bastone A, Beeg M, Manzoni C, Francescucci B, Spagnoli A, Cantù L, Del Favero E, Levy E, Salmona M, Tagliavini F.

Science. 2009 Mar 13;323(5920):1473-7. doi: 10.1126/science.1168979.

48.

Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6.

Cannelli N, Garavaglia B, Simonati A, Aiello C, Barzaghi C, Pezzini F, Cilio MR, Biancheri R, Morbin M, Dalla Bernardina B, Granata T, Tessa A, Invernizzi F, Pessagno A, Boldrini R, Zibordi F, Grazian L, Claps D, Carrozzo R, Mole SE, Nardocci N, Santorelli FM.

Biochem Biophys Res Commun. 2009 Feb 20;379(4):892-7. doi: 10.1016/j.bbrc.2008.12.159. Epub 2009 Jan 7.

PMID:
19135028
49.

Mutant prion protein expression causes motor and memory deficits and abnormal sleep patterns in a transgenic mouse model.

Dossena S, Imeri L, Mangieri M, Garofoli A, Ferrari L, Senatore A, Restelli E, Balducci C, Fiordaliso F, Salio M, Bianchi S, Fioriti L, Morbin M, Pincherle A, Marcon G, Villani F, Carli M, Tagliavini F, Forloni G, Chiesa R.

Neuron. 2008 Nov 26;60(4):598-609. doi: 10.1016/j.neuron.2008.09.008.

50.

Conformational plasticity of the Gerstmann-Sträussler-Scheinker disease peptide as indicated by its multiple aggregation pathways.

Natalello A, Prokorov VV, Tagliavini F, Morbin M, Forloni G, Beeg M, Manzoni C, Colombo L, Gobbi M, Salmona M, Doglia SM.

J Mol Biol. 2008 Sep 19;381(5):1349-61. doi: 10.1016/j.jmb.2008.06.063. Epub 2008 Jun 28.

PMID:
18619462

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