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Items: 1 to 50 of 88

1.

Conventional and Unconventional Therapeutic Strategies for Sialidosis Type I.

Mosca R, van de Vlekkert D, Campos Y, Fremuth LE, Cadaoas J, Koppaka V, Kakkis E, Tifft C, Toro C, Allievi S, Gellera C, Canafoglia L, Visser G, Annunziata I, d'Azzo A.

J Clin Med. 2020 Mar 4;9(3). pii: E695. doi: 10.3390/jcm9030695.

2.

Distortion of the cortical motor map in patients with Unverricht-Lundborg disease: A combined TMS-MRI study.

Rossi Sebastiano D, Visani E, Contarino VE, Panzica F, Duran D, D'Incerti L, Franceschetti S, Canafoglia L.

Epilepsy Res. 2020 Feb;160:106278. doi: 10.1016/j.eplepsyres.2020.106278. Epub 2020 Jan 15.

PMID:
31954920
3.

Advances in genetic testing and optimization of clinical management in children and adults with epilepsy.

Scala M, Bianchi A, Bisulli F, Coppola A, Elia M, Trivisano M, Pruna D, Pippucci T, Canafoglia L, Lattanzi S, Franceschetti S, Nobile C, Gambardella A, Michelucci R, Zara F, Striano P.

Expert Rev Neurother. 2020 Mar;20(3):251-269. doi: 10.1080/14737175.2020.1713101. Epub 2020 Jan 27.

PMID:
31941393
4.

FDG-PET assessment and metabolic patterns in Lafora disease.

Muccioli L, Farolfi A, Pondrelli F, d'Orsi G, Michelucci R, Freri E, Canafoglia L, Licchetta L, Toni F, Bonfiglioli R, Civollani S, Pettinato C, Maietti E, Marotta G, Fanti S, Tinuper P, Bisulli F.

Eur J Nucl Med Mol Imaging. 2019 Dec 19. doi: 10.1007/s00259-019-04647-3. [Epub ahead of print]

PMID:
31858178
5.

Connectivity measures suggest a sub-cortical generator of myoclonus in Angelman syndrome.

Ferlazzo E, Franceschetti S, Gasparini S, Elia M, Canafoglia L, Pantaleoni C, Ascoli M, D'Agostino T, Sueri C, Ferrigno G, Panzica F, Cianci V, Aguglia U.

Clin Neurophysiol. 2019 Dec;130(12):2231-2237. doi: 10.1016/j.clinph.2019.08.031. Epub 2019 Oct 24.

PMID:
31704627
6.

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2.

Corbett MA, Kroes T, Veneziano L, Bennett MF, Florian R, Schneider AL, Coppola A, Licchetta L, Franceschetti S, Suppa A, Wenger A, Mei D, Pendziwiat M, Kaya S, Delledonne M, Straussberg R, Xumerle L, Regan B, Crompton D, van Rootselaar AF, Correll A, Catford R, Bisulli F, Chakraborty S, Baldassari S, Tinuper P, Barton K, Carswell S, Smith M, Berardelli A, Carroll R, Gardner A, Friend KL, Blatt I, Iacomino M, Di Bonaventura C, Striano S, Buratti J, Keren B, Nava C, Forlani S, Rudolf G, Hirsch E, Leguern E, Labauge P, Balestrini S, Sander JW, Afawi Z, Helbig I, Ishiura H, Tsuji S, Sisodiya SM, Casari G, Sadleir LG, van Coller R, Tijssen MAJ, Klein KM, van den Maagdenberg AMJM, Zara F, Guerrini R, Berkovic SF, Pippucci T, Canafoglia L, Bahlo M, Striano P, Scheffer IE, Brancati F, Depienne C, Gecz J.

Nat Commun. 2019 Oct 29;10(1):4920. doi: 10.1038/s41467-019-12671-y.

7.

An Italian multicentre study of perampanel in progressive myoclonus epilepsies.

Canafoglia L, Barbella G, Ferlazzo E, Striano P, Magaudda A, d'Orsi G, Martino T, Avolio C, Aguglia U, Sueri C, Giuliano L, Sofia V, Zibordi F, Ragona F, Freri E, Costa C, Nardi Cesarini E, Fanella M, Rossi Sebastiano D, Riguzzi P, Gambardella A, Di Bonaventura C, Michelucci R, Granata T, Bisulli F, Licchetta L, Tinuper P, Beccaria F, Visani E, Franceschetti S.

Epilepsy Res. 2019 Oct;156:106191. doi: 10.1016/j.eplepsyres.2019.106191. Epub 2019 Aug 16.

PMID:
31446282
8.

Early clinical and EEG findings associated with the outcome in childhood absence epilepsy.

Canafoglia L, Dettori MS, Duran D, Ragona F, Freri E, Casellato S, Granata T, Franceschetti S, Panzica F.

Epilepsy Behav. 2019 Sep;98(Pt A):273-278. doi: 10.1016/j.yebeh.2019.06.040. Epub 2019 Aug 13.

PMID:
31419648
9.

Flunarizine and Aspirin for Transient Hemiparesis in Sturge-Weber Syndrome.

D'Arrigo S, Tessarollo V, Maselli E, Pantaleoni C, Canafoglia L.

Neuropediatrics. 2019 Dec;50(6):406-407. doi: 10.1055/s-0039-1685528. Epub 2019 Jul 4. No abstract available.

PMID:
31272113
10.

Treatment with metformin in twelve patients with Lafora disease.

Bisulli F, Muccioli L, d'Orsi G, Canafoglia L, Freri E, Licchetta L, Mostacci B, Riguzzi P, Pondrelli F, Avolio C, Martino T, Michelucci R, Tinuper P.

Orphanet J Rare Dis. 2019 Jun 21;14(1):149. doi: 10.1186/s13023-019-1132-3.

11.

Epileptic phenotypes in children with early-onset mitochondrial diseases.

Matricardi S, Canafoglia L, Ardissone A, Moroni I, Ragona F, Ghezzi D, Lamantea E, Nardocci N, Franceschetti S, Granata T.

Acta Neurol Scand. 2019 Sep;140(3):184-193. doi: 10.1111/ane.13130. Epub 2019 Jun 6.

PMID:
31102535
12.

HCN ion channels and accessory proteins in epilepsy: genetic analysis of a large cohort of patients and review of the literature.

DiFrancesco JC, Castellotti B, Milanesi R, Ragona F, Freri E, Canafoglia L, Franceschetti S, Ferrarese C, Magri S, Taroni F, Costa C, Labate A, Gambardella A, Solazzi R, Binda A, Rivolta I, Di Gennaro G, Casciato S, D'Incerti L, Barbuti A, DiFrancesco D, Granata T, Gellera C.

Epilepsy Res. 2019 Jul;153:49-58. doi: 10.1016/j.eplepsyres.2019.04.004. Epub 2019 Apr 8. Review.

PMID:
30986657
13.

Screening of SLC2A1 in a large cohort of patients suspected for Glut1 deficiency syndrome: identification of novel variants and associated phenotypes.

Castellotti B, Ragona F, Freri E, Solazzi R, Ciardullo S, Tricomi G, Venerando A, Salis B, Canafoglia L, Villani F, Franceschetti S, Nardocci N, Gellera C, DiFrancesco JC, Granata T.

J Neurol. 2019 Jun;266(6):1439-1448. doi: 10.1007/s00415-019-09280-6. Epub 2019 Mar 20.

PMID:
30895386
14.

Different patterns of movement-related cortical oscillations in patients with myoclonus and in patients with spinocerebellar ataxia.

Visani E, Mariotti C, Nanetti L, Mongelli A, Castaldo A, Panzica F, Franceschetti S, Canafoglia L.

Clin Neurophysiol. 2019 May;130(5):714-721. doi: 10.1016/j.clinph.2019.01.021. Epub 2019 Feb 16.

PMID:
30889419
15.

Progressive myoclonus epilepsy caused by a gain-of-function KCNA2 mutation.

Canafoglia L, Castellotti B, Ragona F, Freri E, Granata T, Chiapparini L, Gellera C, Scaioli V, Franceschetti S, DiFrancesco JC.

Seizure. 2019 Feb;65:106-108. doi: 10.1016/j.seizure.2019.01.005. Epub 2019 Jan 8. No abstract available.

16.

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
17.

ANO10 mutational screening in recessive ataxia: genetic findings and refinement of the clinical phenotype.

Nanetti L, Sarto E, Castaldo A, Magri S, Mongelli A, Rossi Sebastiano D, Canafoglia L, Grisoli M, Malaguti C, Rivieri F, D'Amico MC, Di Bella D, Franceschetti S, Mariotti C, Taroni F.

J Neurol. 2019 Feb;266(2):378-385. doi: 10.1007/s00415-018-9141-z. Epub 2018 Dec 4.

PMID:
30515630
18.

HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond.

Marini C, Porro A, Rastetter A, Dalle C, Rivolta I, Bauer D, Oegema R, Nava C, Parrini E, Mei D, Mercer C, Dhamija R, Chambers C, Coubes C, Thévenon J, Kuentz P, Julia S, Pasquier L, Dubourg C, Carré W, Rosati A, Melani F, Pisano T, Giardino M, Innes AM, Alembik Y, Scheidecker S, Santos M, Figueiroa S, Garrido C, Fusco C, Frattini D, Spagnoli C, Binda A, Granata T, Ragona F, Freri E, Franceschetti S, Canafoglia L, Castellotti B, Gellera C, Milanesi R, Mancardi MM, Clark DR, Kok F, Helbig KL, Ichikawa S, Sadler L, Neupauerová J, Laššuthova P, Šterbová K, Laridon A, Brilstra E, Koeleman B, Lemke JR, Zara F, Striano P, Soblet J, Smits G, Deconinck N, Barbuti A, DiFrancesco D, LeGuern E, Guerrini R, Santoro B, Hamacher K, Thiel G, Moroni A, DiFrancesco JC, Depienne C.

Brain. 2018 Nov 1;141(11):3160-3178. doi: 10.1093/brain/awy263.

19.

Network characteristics in benign epilepsy with centro-temporal spikes patients indicating defective connectivity during spindle sleep: A partial directed coherence study of EEG signals.

Varotto G, Franceschetti S, Caputo D, Visani E, Canafoglia L, Freri E, Ragona F, Avanzini G, Panzica F.

Clin Neurophysiol. 2018 Nov;129(11):2372-2379. doi: 10.1016/j.clinph.2018.09.008. Epub 2018 Sep 21.

PMID:
30268930
20.

A Loss-of-Function HCN4 Mutation Associated With Familial Benign Myoclonic Epilepsy in Infancy Causes Increased Neuronal Excitability.

Campostrini G, DiFrancesco JC, Castellotti B, Milanesi R, Gnecchi-Ruscone T, Bonzanni M, Bucchi A, Baruscotti M, Ferrarese C, Franceschetti S, Canafoglia L, Ragona F, Freri E, Labate A, Gambardella A, Costa C, Gellera C, Granata T, Barbuti A, DiFrancesco D.

Front Mol Neurosci. 2018 Aug 6;11:269. doi: 10.3389/fnmol.2018.00269. eCollection 2018.

21.

A novel de novo HCN1 loss-of-function mutation in genetic generalized epilepsy causing increased neuronal excitability.

Bonzanni M, DiFrancesco JC, Milanesi R, Campostrini G, Castellotti B, Bucchi A, Baruscotti M, Ferrarese C, Franceschetti S, Canafoglia L, Ragona F, Freri E, Labate A, Gambardella A, Costa C, Rivolta I, Gellera C, Granata T, Barbuti A, DiFrancesco D.

Neurobiol Dis. 2018 Oct;118:55-63. doi: 10.1016/j.nbd.2018.06.012. Epub 2018 Jun 21.

22.

Usefulness of EEG-EMG coherence analysis to confirm epileptic nature of spells mimicking hemifacial spasms.

Ferlazzo E, Gasparini S, Sueri C, Cianci V, Branca D, Franceschetti S, Panzica F, Canafoglia L, Aguglia U.

Clin Neurophysiol. 2018 Aug;129(8):1649-1650. doi: 10.1016/j.clinph.2018.06.001. Epub 2018 Jun 8. No abstract available.

PMID:
29913340
23.

Effect of repetitive transcranial magnetic stimulation on action myoclonus: A pilot study in patients with EPM1.

Rossi Sebastiano D, Magaudda A, Quartarone A, Brizzi T, Visani E, Capovilla G, Beccaria F, Anversa P, Franceschetti S, Canafoglia L.

Epilepsy Behav. 2018 Mar;80:33-36. doi: 10.1016/j.yebeh.2017.11.031. Epub 2018 Feb 3.

PMID:
29396360
24.

Kv7.3 Compound Heterozygous Variants in Early Onset Encephalopathy Reveal Additive Contribution of C-Terminal Residues to PIP2-Dependent K+ Channel Gating.

Ambrosino P, Freri E, Castellotti B, Soldovieri MV, Mosca I, Manocchio L, Gellera C, Canafoglia L, Franceschetti S, Salis B, Iraci N, Miceli F, Ragona F, Granata T, DiFrancesco JC, Taglialatela M.

Mol Neurobiol. 2018 Aug;55(8):7009-7024. doi: 10.1007/s12035-018-0883-5. Epub 2018 Jan 30.

PMID:
29383681
25.

Corrigendum to "Advanced morphological neuroimaging study in lateral temporal lobe epilepsy: A multicentric study" [Epilepsy Behav 74 (2017) Pages 69-72].

Vasta R, Sarica A, Bisulli F, Di Gennaro G, D'Aniello A, Difrancesco JC, Canafoglia L, Casazza M, Franceschetti S, Stipa C, Tinuper P, Mumoli L, Gambardella A, Labate A.

Epilepsy Behav. 2017 Dec;77:114. doi: 10.1016/j.yebeh.2017.11.011. No abstract available.

PMID:
29173952
26.

Real-life use of phototherapy in early-stage mycosis fungoides from the Cutaneous Lymphoma Commission of the Italian Lymphoma Foundation: results of a web-based survey.

Grandi V, Fava P, Rupoli S, Alberti Violetti S, Canafoglia L, Berti E, Quaglino P, Pimpinelli N; Italian Lymphoma Foundation.

G Ital Dermatol Venereol. 2018 Oct;153(5):745-746. doi: 10.23736/S0392-0488.17.05693-0. Epub 2017 Nov 16. No abstract available.

PMID:
29144101
27.

Standardization of regimens in Narrowband UVB and PUVA in early stage mycosis fungoides: position paper from the Italian Task Force for Cutaneous Lymphomas.

Grandi V, Fava P, Rupoli S, Alberti Violetti S, Canafoglia L, Quaglino P, Berti E, Pimpinelli N; Cutaneous Lymphoma Task Force (Commissione Linfomi Cutanei) of Lymphoma Italian Foundation (Fondazione Italiana Linfomi, FIL).

J Eur Acad Dermatol Venereol. 2018 May;32(5):683-691. doi: 10.1111/jdv.14668. Epub 2018 Jan 29. Review.

PMID:
29105200
28.

Variable course of Unverricht-Lundborg disease: Early prognostic factors.

Canafoglia L, Ferlazzo E, Michelucci R, Striano P, Magaudda A, Gambardella A, Pasini E, Belcastro V, Riguzzi P, Fanella M, Granata T, Beccaria F, Trentini C, Bianchi A, Aguglia U, Panzica F, Franceschetti S.

Neurology. 2017 Oct 17;89(16):1691-1697. doi: 10.1212/WNL.0000000000004518. Epub 2017 Sep 20.

PMID:
28931642
29.

Advanced morphological neuroimaging study in lateral temporal lobe epilepsy: A multicentric study.

Vasta R, Sarica A, Bisulli F, Di Gennaro G, D'Aniello A, Difrancesco JC, Canafoglia L, Casazza M, Franceschetti S, Stipa C, Tinuper P, Mumoli L, Gambardella A, Labate A.

Epilepsy Behav. 2017 Sep;74:69-72. doi: 10.1016/j.yebeh.2017.06.017. Epub 2017 Jul 17. Erratum in: Epilepsy Behav. 2017 Dec;77:114.

PMID:
28728046
30.

The impact of genetic and experimental studies on classification and therapy of the epilepsies.

Avanzini G, Mantegazza M, Terragni B, Canafoglia L, Scalmani P, Franceschetti S.

Neurosci Lett. 2018 Feb 22;667:17-26. doi: 10.1016/j.neulet.2017.05.026. Epub 2017 May 15. Review.

PMID:
28522348
31.

Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K+ channel properties.

Oliver KL, Franceschetti S, Milligan CJ, Muona M, Mandelstam SA, Canafoglia L, Boguszewska-Chachulska AM, Korczyn AD, Bisulli F, Di Bonaventura C, Ragona F, Michelucci R, Ben-Zeev B, Straussberg R, Panzica F, Massano J, Friedman D, Crespel A, Engelsen BA, Andermann F, Andermann E, Spodar K, Lasek-Bal A, Riguzzi P, Pasini E, Tinuper P, Licchetta L, Gardella E, Lindenau M, Wulf A, Møller RS, Benninger F, Afawi Z, Rubboli G, Reid CA, Maljevic S, Lerche H, Lehesjoki AE, Petrou S, Berkovic SF.

Ann Neurol. 2017 May;81(5):677-689. doi: 10.1002/ana.24929.

PMID:
28380698
32.

Neurophysiological and BOLD signal uncoupling of giant somatosensory evoked potentials in progressive myoclonic epilepsy: a case-series study.

Storti SF, Del Felice A, Canafoglia L, Formaggio E, Brigo F, Alessandrini F, Bongiovanni LG, Menegaz G, Manganotti P.

Sci Rep. 2017 Mar 15;7:44664. doi: 10.1038/srep44664.

33.

Movement-activated cortical myoclonus in Dravet syndrome.

Canafoglia L, Ragona F, Panzica F, Piazza E, Freri E, Binelli S, Scaioli V, Avanzini G, Granata T, Franceschetti S.

Epilepsy Res. 2017 Feb;130:47-52. doi: 10.1016/j.eplepsyres.2017.01.007. Epub 2017 Jan 19.

PMID:
28126647
34.

The network sustaining action myoclonus: a MEG-EMG study in patients with EPM1.

Franceschetti S, Canafoglia L, Rotondi F, Visani E, Granvillano A, Panzica F.

BMC Neurol. 2016 Nov 7;16(1):214.

35.

Cerebellar Involvement in Patients with Mild to Moderate Myoclonus Due to EPM1: Structural and Functional MRI Findings in Comparison with Healthy Controls and Ataxic Patients.

Nigri A, Visani E, Bertolino N, Nanetti L, Mariotti C, Panzeri M, Bruzzone MG, Franceschetti S, Canafoglia L.

Brain Topogr. 2017 May;30(3):380-389. doi: 10.1007/s10548-016-0534-y. Epub 2016 Oct 26.

PMID:
27785699
36.

PARADISE 24 instrument: An observational study on psychosocial difficulties, quality of life, and disability levels in patients with epilepsy.

Quintas R, Cerniauskaite M, Giovannetti AM, Schiavolin S, Raggi A, Covelli V, Villani F, Didato G, Deleo F, Franceschetti S, Binelli S, Canafoglia L, Casazza M, Leonardi M.

Epilepsy Behav. 2016 Nov;64(Pt A):160-165. doi: 10.1016/j.yebeh.2016.08.019. Epub 2016 Oct 12.

PMID:
27743548
37.

Neurophysiology of myoclonus and progressive myoclonus epilepsies.

Avanzini G, Shibasaki H, Rubboli G, Canafoglia L, Panzica F, Franceschetti S, Hallett M.

Epileptic Disord. 2016 Sep 1;18(S2):11-27. Review.

PMID:
27702708
38.

Sialidoses.

Franceschetti S, Canafoglia L.

Epileptic Disord. 2016 Sep 1;18(S2):89-93. Review.

PMID:
27621198
39.

Progressive myoclonus epilepsy associated with SACS gene mutations.

Nascimento FA, Canafoglia L, Aljaafari D, Muona M, Lehesjoki AE, Berkovic SF, Franceschetti S, Andrade DM.

Neurol Genet. 2016 Jun 23;2(4):e83. doi: 10.1212/NXG.0000000000000083. eCollection 2016 Aug.

40.

Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2-2q11.2.

Henden L, Freytag S, Afawi Z, Baldassari S, Berkovic SF, Bisulli F, Canafoglia L, Casari G, Crompton DE, Depienne C, Gecz J, Guerrini R, Helbig I, Hirsch E, Keren B, Klein KM, Labauge P, LeGuern E, Licchetta L, Mei D, Nava C, Pippucci T, Rudolf G, Scheffer IE, Striano P, Tinuper P, Zara F, Corbett M, Bahlo M.

Hum Genet. 2016 Oct;135(10):1117-25. doi: 10.1007/s00439-016-1700-8. Epub 2016 Jul 1.

PMID:
27368338
41.

Results of a prospective phase II trial with oral low-dose bexarotene plus photochemotherapy (PUVA) in refractory and/or relapsed patients with mycosis fungoides.

Rupoli S, Canafoglia L, Goteri G, Leoni P, Brandozzi G, Federici I, Micucci G, Giantomassi F, Mozzicafreddo G, Alterini R, Filosa G, Ricotti G, Simonacci M, Scortechini AR, Zizzi A, Pimpinelli N.

Eur J Dermatol. 2016 Jan-Feb;26(1):13-20. doi: 10.1684/ejd.2015.2672.

PMID:
26678311
42.

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.

43.

Electroencephalographic (EEG) Photoparoxysmal Responses Under 5 Years of Age: Diagnostic Implications and Peculiarities.

Binelli S, Ragona F, Canafoglia L, Freri E, Saletti V, Casazza M, Gilioli I, D'Arrigo S, Visani E, Panzica F, Granata T, Riva D, Franceschetti S.

J Child Neurol. 2015 Nov;30(13):1824-30. doi: 10.1177/0883073815583687. Epub 2015 May 5.

PMID:
25944474
44.

Thrombosis in essential thrombocytemia and early/prefibrotic primary myelofibrosis: the role of the WHO histological diagnosis.

Rupoli S, Goteri G, Picardi P, Micucci G, Canafoglia L, Scortechini AR, Federici I, Giantomassi F, Da Lio L, Zizzi A, Honorati E, Leoni P.

Diagn Pathol. 2015 Apr 16;10:29. doi: 10.1186/s13000-015-0269-1.

45.

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.

Muona M, Berkovic SF, Dibbens LM, Oliver KL, Maljevic S, Bayly MA, Joensuu T, Canafoglia L, Franceschetti S, Michelucci R, Markkinen S, Heron SE, Hildebrand MS, Andermann E, Andermann F, Gambardella A, Tinuper P, Licchetta L, Scheffer IE, Criscuolo C, Filla A, Ferlazzo E, Ahmad J, Ahmad A, Baykan B, Said E, Topcu M, Riguzzi P, King MD, Ozkara C, Andrade DM, Engelsen BA, Crespel A, Lindenau M, Lohmann E, Saletti V, Massano J, Privitera M, Espay AJ, Kauffmann B, Duchowny M, Møller RS, Straussberg R, Afawi Z, Ben-Zeev B, Samocha KE, Daly MJ, Petrou S, Lerche H, Palotie A, Lehesjoki AE.

Nat Genet. 2015 Jan;47(1):39-46. doi: 10.1038/ng.3144. Epub 2014 Nov 17.

46.

Mild Lafora disease: clinical, neurophysiologic, and genetic findings.

Ferlazzo E, Canafoglia L, Michelucci R, Gambardella A, Gennaro E, Pasini E, Riguzzi P, Plasmati R, Volpi L, Labate A, Gasparini S, Villani F, Casazza M, Viri M, Zara F, Minassian BA, Turnbull J, Serratosa JM, Guerrero-López R, Franceschetti S, Aguglia U.

Epilepsia. 2014 Dec;55(12):e129-33. doi: 10.1111/epi.12806. Epub 2014 Sep 30.

47.

Hemodynamic and EEG Time-Courses During Unilateral Hand Movement in Patients with Cortical Myoclonus. An EEG-fMRI and EEG-TD-fNIRS Study.

Visani E, Canafoglia L, Gilioli I, Sebastiano DR, Contarino VE, Duran D, Panzica F, Cubeddu R, Contini D, Zucchelli L, Spinelli L, Caffini M, Molteni E, Bianchi AM, Cerutti S, Franceschetti S, Torricelli A.

Brain Topogr. 2015 Nov;28(6):915-25. doi: 10.1007/s10548-014-0402-6. Epub 2014 Sep 25.

PMID:
25253050
48.

Cerebral vein thrombosis in patients with Philadelphia-negative myeloproliferative neoplasms. An European Leukemia Net study.

Martinelli I, De Stefano V, Carobbio A, Randi ML, Santarossa C, Rambaldi A, Finazzi MC, Cervantes F, Arellano-Rodrigo E, Rupoli S, Canafoglia L, Tieghi A, Facchini L, Betti S, Vannucchi AM, Pieri L, Cacciola R, Cacciola E, Cortelezzi A, Iurlo A, Pogliani EM, Elli EM, Spadea A, Barbui T.

Am J Hematol. 2014 Nov;89(11):E200-5. doi: 10.1002/ajh.23809. Epub 2014 Jul 31.

49.

Expanding sialidosis spectrum by genome-wide screening: NEU1 mutations in adult-onset myoclonus.

Canafoglia L, Robbiano A, Pareyson D, Panzica F, Nanetti L, Giovagnoli AR, Venerando A, Gellera C, Franceschetti S, Zara F.

Neurology. 2014 Jun 3;82(22):2003-6. doi: 10.1212/WNL.0000000000000482. Epub 2014 May 7. Review.

PMID:
24808020
50.

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.

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