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Items: 1 to 50 of 281

1.

Overt Hypogonadism May Not Be a Sentinel Sign of RING Finger Protein 216: Two Novel Mutations Associated with Ataxia, Chorea, and Fertility.

Lieto M, Galatolo D, Roca A, Cocozza S, Pontillo G, Fico T, Pane C, Saccà F, De Michele G, Santorelli FM, Filla A.

Mov Disord Clin Pract. 2019 Oct 23;6(8):724-726. doi: 10.1002/mdc3.12839. eCollection 2019 Nov. No abstract available.

PMID:
31745488
2.

Cerebellum and cognition in Friedreich ataxia: a voxel-based morphometry and volumetric MRI study.

Cocozza S, Costabile T, Pontillo G, Lieto M, Russo C, Radice L, Pane C, Filla A, Brunetti A, Saccà F.

J Neurol. 2019 Oct 22. doi: 10.1007/s00415-019-09582-9. [Epub ahead of print]

PMID:
31641877
3.

Dystonia-Ataxia with early handwriting deterioration in COQ8A mutation carriers: A case series and literature review.

Galosi S, Barca E, Carrozzo R, Schirinzi T, Quinzii CM, Lieto M, Vasco G, Zanni G, Di Nottia M, Galatolo D, Filla A, Bertini E, Santorelli FM, Leuzzi V, Haas R, Hirano M, Friedman J.

Parkinsonism Relat Disord. 2019 Nov;68:8-16. doi: 10.1016/j.parkreldis.2019.09.015. Epub 2019 Sep 28. Review.

PMID:
31621627
4.

The complex phenotype of spinocerebellar ataxia type 48 in eight unrelated Italian families.

Lieto M, Riso V, Galatolo D, De Michele G, Rossi S, Barghigiani M, Cocozza S, Pontillo G, Trovato R, Saccà F, Salvatore E, Tessa A, Filla A, Santorelli FM, De Michele G, Silvestri G.

Eur J Neurol. 2019 Sep 30. doi: 10.1111/ene.14094. [Epub ahead of print]

PMID:
31571321
5.

The Working Life of People with Degenerative Cerebellar Ataxia.

Ranavolo A, Serrao M, Varrecchia T, Casali C, Filla A, Roca A, Silvetti A, Marcotulli C, Rondinone BM, Iavicoli S, Draicchio F.

Cerebellum. 2019 Oct;18(5):910-921. doi: 10.1007/s12311-019-01065-x.

PMID:
31468336
6.

Spinocerebellar ataxia type 2-neuronopathy or neuropathy?

Pelosi L, Iodice R, Antenora A, Kilfoyle D, Mulroy E, Rodrigues M, Roxburgh R, Iovino A, Filla A, Manganelli F, Santoro L.

Muscle Nerve. 2019 Sep;60(3):271-278. doi: 10.1002/mus.26613. Epub 2019 Jul 5.

PMID:
31228263
7.

Prediction of Survival With Long-Term Disease Progression in Most Common Spinocerebellar Ataxia.

Diallo A, Jacobi H, Cook A, Giunti P, Parkinson MH, Labrum R, Durr A, Brice A, Charles P, Marelli C, Mariotti C, Nanetti L, Panzeri M, Castaldo A, Rakowicz M, Rola R, Sulek A, Schmitz-Hübsch T, Schöls L, Hengel H, Baliko L, Melegh B, Filla A, Antenora A, Infante J, Berciano J, van de Warrenburg BP, Timmann D, Boesch S, Nachbauer W, Pandolfo M, Schulz JB, Bauer P, Jun-Suk K, Klockgether T, Tezenas du Montcel S.

Mov Disord. 2019 Aug;34(8):1220-1227. doi: 10.1002/mds.27739. Epub 2019 Jun 18.

PMID:
31211461
8.

Dimethyl fumarate dosing in humans increases frataxin expression: A potential therapy for Friedreich's Ataxia.

Jasoliya M, Sacca F, Sahdeo S, Chedin F, Pane C, Brescia Morra V, Filla A, Pook M, Cortopassi G.

PLoS One. 2019 Jun 3;14(6):e0217776. doi: 10.1371/journal.pone.0217776. eCollection 2019.

9.

Longitudinal study of a cohort of MSA-C patients in South Italy: survival and clinical features.

Lieto M, Roca A, Bruzzese D, Antenora A, Alfieri G, Saccà F, Bellofatto M, Bilo L, Barbato S, De Michele G, Filla A.

Neurol Sci. 2019 Oct;40(10):2105-2109. doi: 10.1007/s10072-019-03948-7. Epub 2019 May 31.

PMID:
31152261
10.

Spinocerebellar ataxia 48 presenting with ataxia associated with cognitive, psychiatric, and extrapyramidal features: A report of two Italian families.

De Michele G, Lieto M, Galatolo D, Salvatore E, Cocozza S, Barghigiani M, Tessa A, Baldacci J, Pappatà S, Filla A, De Michele G, Santorelli FM.

Parkinsonism Relat Disord. 2019 Aug;65:91-96. doi: 10.1016/j.parkreldis.2019.05.001. Epub 2019 May 14.

PMID:
31126790
11.

Degenerative and acquired sporadic adult onset ataxia.

Lieto M, Roca A, Santorelli FM, Fico T, De Michele G, Bellofatto M, Saccà F, De Michele G, Filla A.

Neurol Sci. 2019 Jul;40(7):1335-1342. doi: 10.1007/s10072-019-03856-w. Epub 2019 Mar 29. Review.

PMID:
30927137
12.

Management of Hereditary Spastic Paraplegia: A Systematic Review of the Literature.

Bellofatto M, De Michele G, Iovino A, Filla A, Santorelli FM.

Front Neurol. 2019 Jan 22;10:3. doi: 10.3389/fneur.2019.00003. eCollection 2019.

13.

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.

14.

Reversible Valproate-Induced Subacute Encephalopathy Associated With a MT-ATP8 Variant in the Mitochondrial Genome.

De Michele G, Sorrentino P, Nesti C, Rubegni A, Ruggiero L, Peluso S, Antenora A, Quarantelli M, Filla A, De Michele G, Santorelli FM.

Front Neurol. 2018 Aug 30;9:728. doi: 10.3389/fneur.2018.00728. eCollection 2018.

15.

Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy.

Mancini C, Giorgio E, Rubegni A, Pradotto L, Bagnoli S, Rubino E, Prontera P, Cavalieri S, Di Gregorio E, Ferrero M, Pozzi E, Riberi E, Ferrero P, Nigro P, Mauro A, Zibetti M, Tessa A, Barghigiani M, Antenora A, Sirchia F, Piacentini S, Silvestri G, De Michele G, Filla A, Orsi L, Santorelli FM, Brusco A.

Eur J Neurol. 2019 Jan;26(1):80-86. doi: 10.1111/ene.13768. Epub 2018 Sep 3.

PMID:
30098094
16.

Predictors of survival in spinocerebellar ataxia type 2 population from Southern Italy.

Antenora A, Bruzzese D, Lieto M, Roca A, Florio MT, Peluso S, Saccà F, De Michele G, Santorelli FM, Filla A.

Neurol Sci. 2018 Nov;39(11):1857-1860. doi: 10.1007/s10072-018-3504-1. Epub 2018 Jul 21.

PMID:
30030635
17.

Long-term evolution of patient-reported outcome measures in spinocerebellar ataxias.

Jacobi H, du Montcel ST, Bauer P, Giunti P, Cook A, Labrum R, Parkinson MH, Durr A, Brice A, Charles P, Marelli C, Mariotti C, Nanetti L, Sarro L, Rakowicz M, Sulek A, Sobanska A, Schmitz-Hübsch T, Schöls L, Hengel H, Baliko L, Melegh B, Filla A, Antenora A, Infante J, Berciano J, van de Warrenburg BP, Timmann D, Szymanski S, Boesch S, Nachbauer W, Kang JS, Pandolfo M, Schulz JB, Melac AT, Diallo A, Klockgether T.

J Neurol. 2018 Sep;265(9):2040-2051. doi: 10.1007/s00415-018-8954-0. Epub 2018 Jun 29.

PMID:
29959555
18.

Cognitive and functional connectivity alterations in Friedreich's ataxia.

Cocozza S, Costabile T, Tedeschi E, Abate F, Russo C, Liguori A, Del Vecchio W, Paciello F, Quarantelli M, Filla A, Brunetti A, Saccà F.

Ann Clin Transl Neurol. 2018 Apr 14;5(6):677-686. doi: 10.1002/acn3.555. eCollection 2018 Jun.

19.

Survival in patients with spinocerebellar ataxia types 1, 2, 3, and 6 (EUROSCA): a longitudinal cohort study.

Diallo A, Jacobi H, Cook A, Labrum R, Durr A, Brice A, Charles P, Marelli C, Mariotti C, Nanetti L, Panzeri M, Rakowicz M, Sobanska A, Sulek A, Schmitz-Hübsch T, Schöls L, Hengel H, Melegh B, Filla A, Antenora A, Infante J, Berciano J, van de Warrenburg BP, Timmann D, Boesch S, Pandolfo M, Schulz JB, Bauer P, Giunti P, Kang JS, Klockgether T, Tezenas du Montcel S.

Lancet Neurol. 2018 Apr;17(4):327-334. doi: 10.1016/S1474-4422(18)30042-5. Epub 2018 Mar 13.

PMID:
29553382
20.

Adult normative values for the PATA Rate Test.

Pane C, Costabile T, Salvati A, Aurisicchio DL, Abate F, Liguori A, Paciello F, Peluso S, Manganelli F, De Michele G, Filla A, Saccà F.

J Neurol. 2018 May;265(5):1102-1105. doi: 10.1007/s00415-018-8820-0. Epub 2018 Mar 6.

PMID:
29511862
21.

Spinocerebellar Ataxia Tethering PCR: A Rapid Genetic Test for the Diagnosis of Spinocerebellar Ataxia Types 1, 2, 3, 6, and 7 by PCR and Capillary Electrophoresis.

Cagnoli C, Brussino A, Mancini C, Ferrone M, Orsi L, Salmin P, Pappi P, Giorgio E, Pozzi E, Cavalieri S, Di Gregorio E, Ferrero M, Filla A, De Michele G, Gellera C, Mariotti C, Nethisinghe S, Giunti P, Stevanin G, Brusco A.

J Mol Diagn. 2018 May;20(3):289-297. doi: 10.1016/j.jmoldx.2017.12.006. Epub 2018 Feb 17.

PMID:
29462666
22.

Emotion Recognition and Psychological Comorbidity in Friedreich's Ataxia.

Costabile T, Capretti V, Abate F, Liguori A, Paciello F, Pane C, De Rosa A, Peluso S, De Michele G, Filla A, Saccà F.

Cerebellum. 2018 Jun;17(3):336-345. doi: 10.1007/s12311-018-0918-5.

PMID:
29327279
23.

Clinical application of next generation sequencing in hereditary spinocerebellar ataxia: increasing the diagnostic yield and broadening the ataxia-spasticity spectrum. A retrospective analysis.

Galatolo D, Tessa A, Filla A, Santorelli FM.

Neurogenetics. 2018 Jan;19(1):1-8. doi: 10.1007/s10048-017-0532-6. Epub 2017 Dec 6. Review.

PMID:
29209898
24.

Correction to: Peripheral markers of autophagy in polyglutamine diseases.

Puorro G, Marsili A, Sapone F, Pane C, De Rosa A, Peluso S, De Michele G, Filla A, Saccà F.

Neurol Sci. 2018 Jan;39(1):153. doi: 10.1007/s10072-017-3193-1.

PMID:
29147801
25.

Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial.

Schöls L, Rattay TW, Martus P, Meisner C, Baets J, Fischer I, Jägle C, Fraidakis MJ, Martinuzzi A, Saute JA, Scarlato M, Antenora A, Stendel C, Höflinger P, Lourenco CM, Abreu L, Smets K, Paucar M, Deconinck T, Bis DM, Wiethoff S, Bauer P, Arnoldi A, Marques W, Jardim LB, Hauser S, Criscuolo C, Filla A, Züchner S, Bassi MT, Klopstock T, De Jonghe P, Björkhem I, Schüle R.

Brain. 2017 Dec 1;140(12):3112-3127. doi: 10.1093/brain/awx273.

26.

Peripheral markers of autophagy in polyglutamine diseases.

Puorro G, Marsili A, Sapone F, Pane C, De Rosa A, Peluso S, De Michele G, Filla A, Saccà F.

Neurol Sci. 2018 Jan;39(1):149-152. doi: 10.1007/s10072-017-3156-6. Epub 2017 Oct 18. Erratum in: Neurol Sci. 2017 Nov 17;:.

PMID:
29046994
27.

The Multiple Faces of Spinocerebellar Ataxia type 2.

Antenora A, Rinaldi C, Roca A, Pane C, Lieto M, Saccà F, Peluso S, De Michele G, Filla A.

Ann Clin Transl Neurol. 2017 Aug 10;4(9):687-695. doi: 10.1002/acn3.437. eCollection 2017 Sep. Review.

28.

Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia.

Giordano I, Harmuth F, Jacobi H, Paap B, Vielhaber S, Machts J, Schöls L, Synofzik M, Sturm M, Tallaksen C, Wedding IM, Boesch S, Eigentler A, van de Warrenburg B, van Gaalen J, Kamm C, Dudesek A, Kang JS, Timmann D, Silvestri G, Masciullo M, Klopstock T, Neuhofer C, Ganos C, Filla A, Bauer P, Tezenas du Montcel S, Klockgether T.

Neurology. 2017 Sep 5;89(10):1043-1049. doi: 10.1212/WNL.0000000000004311. Epub 2017 Aug 9.

PMID:
28794257
29.

Body Mass Index Decline Is Related to Spinocerebellar Ataxia Disease Progression.

Diallo A, Jacobi H, Schmitz-Hübsch T, Cook A, Labrum R, Durr A, Brice A, Charles P, Marelli C, Mariotti C, Nanetti L, Panzeri M, Rakowicz M, Sobanska A, Sulek A, Schöls L, Hengel H, Melegh B, Filla A, Antenora A, Infante J, Berciano J, van de Warrenburg BP, Timmann D, Boesch S, Pandolfo M, Schulz JB, Bauer P, Giunti P, Baliko L, Parkinson MH, Kang JS, Klockgether T, Tezenas du Montcel S.

Mov Disord Clin Pract. 2017 Aug 11;4(5):689-697. doi: 10.1002/mdc3.12522. eCollection 2017 Sep-Oct.

30.

Normalization of timed neuropsychological tests with the PATA rate and nine-hole pegboard tests.

Saccà F, Costabile T, Abate F, Liguori A, Paciello F, Pane C, De Rosa A, Manganelli F, De Michele G, Filla A.

J Neuropsychol. 2018 Sep;12(3):471-483. doi: 10.1111/jnp.12125. Epub 2017 May 6.

PMID:
28477351
31.

Dimethyl fumarate mediates Nrf2-dependent mitochondrial biogenesis in mice and humans.

Hayashi G, Jasoliya M, Sahdeo S, Saccà F, Pane C, Filla A, Marsili A, Puorro G, Lanzillo R, Brescia Morra V, Cortopassi G.

Hum Mol Genet. 2017 Aug 1;26(15):2864-2873. doi: 10.1093/hmg/ddx167.

32.

Stability of erythropoietin repackaging in polypropylene syringes for clinical use.

Marsili A, Puorro G, Pane C, de Rosa A, Defazio G, Casali C, Cittadini A, de Michele G, Florio BE, Filla A, Saccà F.

Saudi Pharm J. 2017 Feb;25(2):290-293. doi: 10.1016/j.jsps.2016.01.003. Epub 2016 Jan 14.

33.

A wearable proprioceptive stabilizer for rehabilitation of limb and gait ataxia in hereditary cerebellar ataxias: a pilot open-labeled study.

Leonardi L, Aceto MG, Marcotulli C, Arcuria G, Serrao M, Pierelli F, Paone P, Filla A, Roca A, Casali C.

Neurol Sci. 2017 Mar;38(3):459-463. doi: 10.1007/s10072-016-2800-x. Epub 2016 Dec 31.

PMID:
28039539
34.

Pathological laughter as onset symptom in atypical parkinsonisms.

De Rosa A, Pappatà S, Peluso S, Saccà F, Lieto M, Filla A, De Michele G.

J Neurol. 2017 Jan;264(1):182-184. doi: 10.1007/s00415-016-8351-5. Epub 2016 Nov 24. No abstract available.

PMID:
27885486
35.

Functional MRI signal fluctuations highlight altered resting brain activity in Huntington's disease.

Sarappa C, Salvatore E, Filla A, Cocozza S, Russo CV, Saccà F, Brunetti A, De Michele G, Quarantelli M.

Brain Imaging Behav. 2017 Oct;11(5):1459-1469. doi: 10.1007/s11682-016-9630-6.

PMID:
27734308
36.

Be aware of Wolfram syndrome when examining ataxic patients.

Antenora A, Lieto M, Santorelli FM, Peluso S, Saccà F, De Michele G, Filla A.

J Neurol. 2016 Sep;263(9):1862-3. doi: 10.1007/s00415-016-8199-8. Epub 2016 Jun 17. No abstract available.

PMID:
27314960
37.

Long-term effect of epoetin alfa on clinical and biochemical markers in friedreich ataxia.

Saccà F, Puorro G, Marsili A, Antenora A, Pane C, Casali C, Marcotulli C, Defazio G, Liuzzi D, Tatillo C, Cambriglia DM, Schiano di Cola G, Giuliani L, Guardasole V, Salzano A, Ruvolo A, De Rosa A, Cittadini A, De Michele G, Filla A.

Mov Disord. 2016 May;31(5):734-41. doi: 10.1002/mds.26552. Epub 2016 Feb 16.

PMID:
26879839
38.

Powerhouse failure and oxidative damage in autosomal recessive spastic ataxia of Charlevoix-Saguenay.

Criscuolo C, Procaccini C, Meschini MC, Cianflone A, Carbone R, Doccini S, Devos D, Nesti C, Vuillaume I, Pellegrino M, Filla A, De Michele G, Matarese G, Santorelli FM.

J Neurol. 2015 Dec;262(12):2755-63. doi: 10.1007/s00415-015-7911-4. Epub 2015 Nov 3.

PMID:
26530509
39.

Long-term disease progression in spinocerebellar ataxia types 1, 2, 3, and 6: a longitudinal cohort study.

Jacobi H, du Montcel ST, Bauer P, Giunti P, Cook A, Labrum R, Parkinson MH, Durr A, Brice A, Charles P, Marelli C, Mariotti C, Nanetti L, Panzeri M, Rakowicz M, Sulek A, Sobanska A, Schmitz-Hübsch T, Schöls L, Hengel H, Baliko L, Melegh B, Filla A, Antenora A, Infante J, Berciano J, van de Warrenburg BP, Timmann D, Szymanski S, Boesch S, Kang JS, Pandolfo M, Schulz JB, Molho S, Diallo A, Klockgether T.

Lancet Neurol. 2015 Nov;14(11):1101-8. doi: 10.1016/S1474-4422(15)00202-1. Epub 2015 Sep 13.

PMID:
26377379
40.

SPG5 and multiple sclerosis: clinical and genetic overlap?

Criscuolo C, Carbone R, Lieto M, Peluso S, Guacci A, Filla A, Quarantelli M, Lanzillo R, Morra VB, De Michele G.

Acta Neurol Scand. 2016 Jun;133(6):410-4. doi: 10.1111/ane.12476. Epub 2015 Sep 15.

PMID:
26370385
41.

Comment: CAG repeats in idiopathic Parkinson disease-To screen or not to screen.

Filla A.

Neurology. 2015 Oct 13;85(15):1291. doi: 10.1212/WNL.0000000000002024. Epub 2015 Sep 9. No abstract available.

PMID:
26354983
42.

The Effect of Cerebellar Degeneration on Human Sensori-motor Plasticity.

Dubbioso R, Pellegrino G, Antenora A, De Michele G, Filla A, Santoro L, Manganelli F.

Brain Stimul. 2015 Nov-Dec;8(6):1144-50. doi: 10.1016/j.brs.2015.05.012. Epub 2015 Jun 16.

PMID:
26140957
43.

Modifications of resting state networks in spinocerebellar ataxia type 2.

Cocozza S, Saccà F, Cervo A, Marsili A, Russo CV, Giorgio SM, De Michele G, Filla A, Brunetti A, Quarantelli M.

Mov Disord. 2015 Sep;30(10):1382-90. doi: 10.1002/mds.26284. Epub 2015 Jun 12.

PMID:
26094751
44.

Variants associated with Gaucher disease in multiple system atrophy.

Mitsui J, Matsukawa T, Sasaki H, Yabe I, Matsushima M, Dürr A, Brice A, Takashima H, Kikuchi A, Aoki M, Ishiura H, Yasuda T, Date H, Ahsan B, Iwata A, Goto J, Ichikawa Y, Nakahara Y, Momose Y, Takahashi Y, Hara K, Kakita A, Yamada M, Takahashi H, Onodera O, Nishizawa M, Watanabe H, Ito M, Sobue G, Ishikawa K, Mizusawa H, Kanai K, Hattori T, Kuwabara S, Arai K, Koyano S, Kuroiwa Y, Hasegawa K, Yuasa T, Yasui K, Nakashima K, Ito H, Izumi Y, Kaji R, Kato T, Kusunoki S, Osaki Y, Horiuchi M, Kondo T, Murayama S, Hattori N, Yamamoto M, Murata M, Satake W, Toda T, Filla A, Klockgether T, Wüllner U, Nicholson G, Gilman S, Tanner CM, Kukull WA, Stern MB, Lee VM, Trojanowski JQ, Masliah E, Low PA, Sandroni P, Ozelius LJ, Foroud T, Tsuji S.

Ann Clin Transl Neurol. 2015 Apr;2(4):417-26. doi: 10.1002/acn3.185. Epub 2015 Feb 28.

45.

Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C.

Fecarotta S, Romano A, Della Casa R, Del Giudice E, Bruschini D, Mansi G, Bembi B, Dardis A, Fiumara A, Di Rocco M, Uziel G, Ardissone A, Roccatello D, Alpa M, Bertini E, D'Amico A, Dionisi-Vici C, Deodato F, Caviglia S, Federico A, Palmeri S, Gabrielli O, Santoro L, Filla A, Russo C, Parenti G, Andria G.

Orphanet J Rare Dis. 2015 Feb 27;10:22. doi: 10.1186/s13023-015-0240-y.

46.

Movement disorders: Friedreich ataxia today—preparing for the final battle.

De Michele G, Filla A.

Nat Rev Neurol. 2015 Apr;11(4):188-90. doi: 10.1038/nrneurol.2015.33. Epub 2015 Mar 10. No abstract available.

PMID:
25752951
47.

Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic Paraplegia.

Rinaldi C, Schmidt T, Situ AJ, Johnson JO, Lee PR, Chen KL, Bott LC, Fadó R, Harmison GH, Parodi S, Grunseich C, Renvoisé B, Biesecker LG, De Michele G, Santorelli FM, Filla A, Stevanin G, Dürr A, Brice A, Casals N, Traynor BJ, Blackstone C, Ulmer TS, Fischbeck KH.

JAMA Neurol. 2015 May;72(5):561-70. doi: 10.1001/jamaneurol.2014.4769. Erratum in: JAMA Neurol. 2015 May;72(5):608.

48.

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.

49.

Friedreich's Ataxia Presenting as Isolated Spastic Paraparesis.

Tessa A, Fiorillo C, De Grandis D, Astrea G, Perazza S, Filla A, Santorelli FM.

Can J Neurol Sci. 2014 Sep;41(5):666-8. doi: 10.1017/cjn.2014.28. No abstract available.

PMID:
25373823
50.

A randomized controlled pilot trial of lithium in spinocerebellar ataxia type 2.

Saccà F, Puorro G, Brunetti A, Capasso G, Cervo A, Cocozza S, de Leva M, Marsili A, Pane C, Quarantelli M, Russo CV, Trepiccione F, De Michele G, Filla A, Morra VB.

J Neurol. 2015 Jan;262(1):149-53. doi: 10.1007/s00415-014-7551-0. Epub 2014 Oct 28.

PMID:
25346067

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