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Items: 1 to 50 of 65

1.

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
2.

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
3.

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
4.

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
5.

Substantia Nigra Swelling and Dentate Nucleus T2 Hyperintensity May Be Early Magnetic Resonance Imaging Signs of β-Propeller Protein-Associated Neurodegeneration.

Russo C, Ardissone A, Freri E, Gasperini S, Moscatelli M, Zorzi G, Panteghini C, Castellotti B, Garavaglia B, Nardocci N, Chiapparini L.

Mov Disord Clin Pract. 2018 Nov 9;6(1):51-56. doi: 10.1002/mdc3.12693. eCollection 2019 Jan.

6.

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.

7.

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
8.

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.

9.

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.

10.

Early Treatment with Quinidine in 2 Patients with Epilepsy of Infancy with Migrating Focal Seizures (EIMFS) Due to Gain-of-Function KCNT1 Mutations: Functional Studies, Clinical Responses, and Critical Issues for Personalized Therapy.

Dilena R, DiFrancesco JC, Soldovieri MV, Giacobbe A, Ambrosino P, Mosca I, Galli MA, Guez S, Fumagalli M, Miceli F, Cattaneo D, Darra F, Gennaro E, Zara F, Striano P, Castellotti B, Gellera C, Varesio C, Veggiotti P, Taglialatela M.

Neurotherapeutics. 2018 Oct;15(4):1112-1126. doi: 10.1007/s13311-018-0657-9.

11.

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.

12.

Biopsy-proven multiple sclerosis in an adult patient with atypical craniometaphyseal dysplasia.

DiFrancesco JC, Isimbaldi G, Bedeschi MF, Castellotti B.

BMJ Case Rep. 2018 Feb 14;2018. pii: bcr-2017-223390. doi: 10.1136/bcr-2017-223390.

13.

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
14.

The role of de novo mutations in the development of amyotrophic lateral sclerosis.

van Doormaal PTC, Ticozzi N, Weishaupt JH, Kenna K, Diekstra FP, Verde F, Andersen PM, Dekker AM, Tiloca C, Marroquin N, Overste DJ, Pensato V, Nürnberg P, Pulit SL, Schellevis RD, Calini D, Altmüller J, Francioli LC, Muller B, Castellotti B, Motameny S, Ratti A, Wolf J, Gellera C, Ludolph AC, van den Berg LH, Kubisch C, Landers JE, Veldink JH, Silani V, Volk AE.

Hum Mutat. 2017 Nov;38(11):1534-1541. doi: 10.1002/humu.23295. Epub 2017 Aug 3.

15.

Alternating Hemiplegia and Epilepsia Partialis Continua: A new phenotype for a novel compound TBC1D24 mutation.

Ragona F, Castellotti B, Salis B, Magri S, DiFrancesco JC, Nardocci N, Franceschetti S, Gellera C, Granata T.

Seizure. 2017 Apr;47:71-73. doi: 10.1016/j.seizure.2017.03.003. Epub 2017 Mar 6.

16.

Clinical and Molecular Characteristics of SLC16A2 (MCT8) Mutations in Three Families with the Allan-Herndon-Dudley Syndrome.

Novara F, Groeneweg S, Freri E, Estienne M, Reho P, Matricardi S, Castellotti B, Visser WE, Zuffardi O, Visser TJ.

Hum Mutat. 2017 Mar;38(3):260-264. doi: 10.1002/humu.23140. Epub 2017 Jan 5.

PMID:
27805744
17.

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
18.

Association of a Locus in the CAMTA1 Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis.

Fogh I, Lin K, Tiloca C, Rooney J, Gellera C, Diekstra FP, Ratti A, Shatunov A, van Es MA, Proitsi P, Jones A, Sproviero W, Chiò A, McLaughlin RL, Sorarù G, Corrado L, Stahl D, Del Bo R, Cereda C, Castellotti B, Glass JD, Newhouse S, Dobson R, Smith BN, Topp S, van Rheenen W, Meininger V, Melki J, Morrison KE, Shaw PJ, Leigh PN, Andersen PM, Comi GP, Ticozzi N, Mazzini L, D'Alfonso S, Traynor BJ, Van Damme P, Robberecht W, Brown RH, Landers JE, Hardiman O, Lewis CM, van den Berg LH, Shaw CE, Veldink JH, Silani V, Al-Chalabi A, Powell J.

JAMA Neurol. 2016 Jul 1;73(7):812-20. doi: 10.1001/jamaneurol.2016.1114.

19.

ASAH1 variant causing a mild SMA phenotype with no myoclonic epilepsy: a clinical, biochemical and molecular study.

Filosto M, Aureli M, Castellotti B, Rinaldi F, Schiumarini D, Valsecchi M, Lualdi S, Mazzotti R, Pensato V, Rota S, Gellera C, Filocamo M, Padovani A.

Eur J Hum Genet. 2016 Nov;24(11):1578-1583. doi: 10.1038/ejhg.2016.28. Epub 2016 Mar 30.

20.

Clinical and molecular report of novel GALC mutations in Moroccan patient with Krabbe disease: case report.

Zerkaoui M, Ratbi I, Castellotti B, Gellera C, Lyahyai J, Kriouile Y, Sefiani A.

BMC Pediatr. 2015 Nov 13;15:182. doi: 10.1186/s12887-015-0490-9.

21.

Lack of aprataxin impairs mitochondrial functions via downregulation of the APE1/NRF1/NRF2 pathway.

Garcia-Diaz B, Barca E, Balreira A, Lopez LC, Tadesse S, Krishna S, Naini A, Mariotti C, Castellotti B, Quinzii CM.

Hum Mol Genet. 2015 Aug 15;24(16):4516-29. doi: 10.1093/hmg/ddv183. Epub 2015 May 14.

22.

TUBA4A gene analysis in sporadic amyotrophic lateral sclerosis: identification of novel mutations.

Pensato V, Tiloca C, Corrado L, Bertolin C, Sardone V, Del Bo R, Calini D, Mandrioli J, Lauria G, Mazzini L, Querin G, Ceroni M, Cantello R, Corti S, Castellotti B, Soldà G, Duga S, Comi GP, Cereda C, Sorarù G, D'Alfonso S, Taroni F, Shaw CE, Landers JE, Ticozzi N, Ratti A, Gellera C, Silani V; SLAGEN Consortium.

J Neurol. 2015 May;262(5):1376-8. doi: 10.1007/s00415-015-7739-y. Epub 2015 Apr 18. No abstract available.

23.

Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS.

Smith BN, Ticozzi N, Fallini C, Gkazi AS, Topp S, Kenna KP, Scotter EL, Kost J, Keagle P, Miller JW, Calini D, Vance C, Danielson EW, Troakes C, Tiloca C, Al-Sarraj S, Lewis EA, King A, Colombrita C, Pensato V, Castellotti B, de Belleroche J, Baas F, ten Asbroek AL, Sapp PC, McKenna-Yasek D, McLaughlin RL, Polak M, Asress S, Esteban-Pérez J, Muñoz-Blanco JL, Simpson M; SLAGEN Consortium, van Rheenen W, Diekstra FP, Lauria G, Duga S, Corti S, Cereda C, Corrado L, Sorarù G, Morrison KE, Williams KL, Nicholson GA, Blair IP, Dion PA, Leblond CS, Rouleau GA, Hardiman O, Veldink JH, van den Berg LH, Al-Chalabi A, Pall H, Shaw PJ, Turner MR, Talbot K, Taroni F, García-Redondo A, Wu Z, Glass JD, Gellera C, Ratti A, Brown RH Jr, Silani V, Shaw CE, Landers JE.

Neuron. 2014 Oct 22;84(2):324-31. doi: 10.1016/j.neuron.2014.09.027. Epub 2014 Oct 22.

24.

Hyperargininemia: 7-month follow-up under sodium benzoate therapy in an Italian child presenting progressive spastic paraparesis, cognitive decline, and novel mutation in ARG1 gene.

Baranello G, Alfei E, Martinelli D, Rizzetto M, Cazzaniga F, Dionisi-Vici C, Gellera C, Castellotti B.

Pediatr Neurol. 2014 Sep;51(3):430-3. doi: 10.1016/j.pediatrneurol.2014.05.029. Epub 2014 Jun 4.

PMID:
24997092
25.

Refractory absence epilepsy and glut1 deficiency syndrome: a new case report and literature review.

Ragona F, Matricardi S, Castellotti B, Patrini M, Freri E, Binelli S, Granata T.

Neuropediatrics. 2014 Oct;45(5):328-32. doi: 10.1055/s-0034-1378130. Epub 2014 Jun 3. Review.

PMID:
24892788
26.

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
27.

A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis.

Fogh I, Ratti A, Gellera C, Lin K, Tiloca C, Moskvina V, Corrado L, Sorarù G, Cereda C, Corti S, Gentilini D, Calini D, Castellotti B, Mazzini L, Querin G, Gagliardi S, Del Bo R, Conforti FL, Siciliano G, Inghilleri M, Saccà F, Bongioanni P, Penco S, Corbo M, Sorbi S, Filosto M, Ferlini A, Di Blasio AM, Signorini S, Shatunov A, Jones A, Shaw PJ, Morrison KE, Farmer AE, Van Damme P, Robberecht W, Chiò A, Traynor BJ, Sendtner M, Melki J, Meininger V, Hardiman O, Andersen PM, Leigh NP, Glass JD, Overste D, Diekstra FP, Veldink JH, van Es MA, Shaw CE, Weale ME, Lewis CM, Williams J, Brown RH, Landers JE, Ticozzi N, Ceroni M, Pegoraro E, Comi GP, D'Alfonso S, van den Berg LH, Taroni F, Al-Chalabi A, Powell J, Silani V; SLAGEN Consortium and Collaborators.

Hum Mol Genet. 2014 Apr 15;23(8):2220-31. doi: 10.1093/hmg/ddt587. Epub 2013 Nov 20.

28.

Analysis of hnRNPA1, A2/B1, and A3 genes in patients with amyotrophic lateral sclerosis.

Calini D, Corrado L, Del Bo R, Gagliardi S, Pensato V, Verde F, Corti S, Mazzini L, Milani P, Castellotti B, Bertolin C, Sorarù G, Cereda C, Comi GP, D'Alfonso S, Gellera C, Ticozzi N, Landers JE, Ratti A, Silani V; SLAGEN Consortium.

Neurobiol Aging. 2013 Nov;34(11):2695.e11-2. doi: 10.1016/j.neurobiolaging.2013.05.025. Epub 2013 Jul 2.

29.

Ubiquilin 2 mutations in Italian patients with amyotrophic lateral sclerosis and frontotemporal dementia.

Gellera C, Tiloca C, Del Bo R, Corrado L, Pensato V, Agostini J, Cereda C, Ratti A, Castellotti B, Corti S, Bagarotti A, Cagnin A, Milani P, Gabelli C, Riboldi G, Mazzini L, Sorarù G, D'Alfonso S, Taroni F, Comi GP, Ticozzi N, Silani V; SLAGEN Consortium.

J Neurol Neurosurg Psychiatry. 2013 Feb;84(2):183-7. doi: 10.1136/jnnp-2012-303433. Epub 2012 Nov 8.

PMID:
23138764
30.

Screening of the PFN1 gene in sporadic amyotrophic lateral sclerosis and in frontotemporal dementia.

Tiloca C, Ticozzi N, Pensato V, Corrado L, Del Bo R, Bertolin C, Fenoglio C, Gagliardi S, Calini D, Lauria G, Castellotti B, Bagarotti A, Corti S, Galimberti D, Cagnin A, Gabelli C, Ranieri M, Ceroni M, Siciliano G, Mazzini L, Cereda C, Scarpini E, Sorarù G, Comi GP, D'Alfonso S, Gellera C, Ratti A, Landers JE, Silani V; SLAGEN Consortium.

Neurobiol Aging. 2013 May;34(5):1517.e9-10. doi: 10.1016/j.neurobiolaging.2012.09.016. Epub 2012 Oct 11.

31.

C9ORF72 repeat expansion in a large Italian ALS cohort: evidence of a founder effect.

Ratti A, Corrado L, Castellotti B, Del Bo R, Fogh I, Cereda C, Tiloca C, D'Ascenzo C, Bagarotti A, Pensato V, Ranieri M, Gagliardi S, Calini D, Mazzini L, Taroni F, Corti S, Ceroni M, Oggioni GD, Lin K, Powell JF, Sorarù G, Ticozzi N, Comi GP, D'Alfonso S, Gellera C, Silani V; SLAGEN Consortium.

Neurobiol Aging. 2012 Oct;33(10):2528.e7-14. doi: 10.1016/j.neurobiolaging.2012.06.008. Epub 2012 Jul 4.

PMID:
22766072
32.

Granny trips down: is she carrying the big bad wolf?

Tremolizzo L, Patassini M, Uziel G, Castellotti B, Gellera C, Ferrarese C, Appollonio I.

Neurol Sci. 2013 Nov;34(11):2077-9. doi: 10.1007/s10072-012-1108-8. Epub 2012 May 17. No abstract available.

PMID:
22592565
33.

ATAXIN2 CAG-repeat length in Italian patients with amyotrophic lateral sclerosis: risk factor or variant phenotype? Implication for genetic testing and counseling.

Gellera C, Ticozzi N, Pensato V, Nanetti L, Castucci A, Castellotti B, Lauria G, Taroni F, Silani V, Mariotti C.

Neurobiol Aging. 2012 Aug;33(8):1847.e15-21. doi: 10.1016/j.neurobiolaging.2012.02.004. Epub 2012 Mar 16.

PMID:
22425256
34.

Preferential expression of mutant ABCD1 allele is common in adrenoleukodystrophy female carriers but unrelated to clinical symptoms.

Salsano E, Tabano S, Sirchia SM, Colapietro P, Castellotti B, Gellera C, Rimoldi M, Pensato V, Mariotti C, Pareyson D, Miozzo M, Uziel G.

Orphanet J Rare Dis. 2012 Jan 26;7:10. doi: 10.1186/1750-1172-7-10.

35.

Riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency with unknown genetic defect.

Cotelli MS, Vielmi V, Rimoldi M, Rizzetto M, Castellotti B, Bertasi V, Todeschini A, Gregorelli V, Baronchelli C, Gellera C, Padovani A, Filosto M.

Neurol Sci. 2012 Dec;33(6):1383-7. doi: 10.1007/s10072-011-0900-1. Epub 2011 Dec 22.

PMID:
22190129
36.

Mutational analysis of VCP gene in familial amyotrophic lateral sclerosis.

Tiloca C, Ratti A, Pensato V, Castucci A, Sorarù G, Del Bo R, Corrado L, Cereda C, D'Ascenzo C, Comi GP, Mazzini L, Castellotti B, Ticozzi N, Gellera C, Silani V; SLAGEN Consortium.

Neurobiol Aging. 2012 Mar;33(3):630.e1-2. doi: 10.1016/j.neurobiolaging.2011.10.025. Epub 2011 Dec 3.

PMID:
22137929
37.

Novel optineurin mutations in patients with familial and sporadic amyotrophic lateral sclerosis.

Del Bo R, Tiloca C, Pensato V, Corrado L, Ratti A, Ticozzi N, Corti S, Castellotti B, Mazzini L, Sorarù G, Cereda C, D'Alfonso S, Gellera C, Comi GP, Silani V; SLAGEN Consortium.

J Neurol Neurosurg Psychiatry. 2011 Nov;82(11):1239-43. doi: 10.1136/jnnp.2011.242313. Epub 2011 May 25.

PMID:
21613650
38.

Paroxysmal exercise-induced dyskinesia with self-limiting partial epilepsy: a novel GLUT-1 mutation with benign phenotype.

Bovi T, Fasano A, Juergenson I, Gellera C, Castellotti B, Fontana E, Tinazzi M.

Parkinsonism Relat Disord. 2011 Jul;17(6):479-81. doi: 10.1016/j.parkreldis.2011.03.015. Epub 2011 May 6.

PMID:
21530357
39.

Ataxia with oculomotor apraxia type1 (AOA1): novel and recurrent aprataxin mutations, coenzyme Q10 analyses, and clinical findings in Italian patients.

Castellotti B, Mariotti C, Rimoldi M, Fancellu R, Plumari M, Caimi S, Uziel G, Nardocci N, Moroni I, Zorzi G, Pareyson D, Di Bella D, Di Donato S, Taroni F, Gellera C.

Neurogenetics. 2011 Aug;12(3):193-201. doi: 10.1007/s10048-011-0281-x. Epub 2011 Apr 5.

PMID:
21465257
40.

Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28.

Di Bella D, Lazzaro F, Brusco A, Plumari M, Battaglia G, Pastore A, Finardi A, Cagnoli C, Tempia F, Frontali M, Veneziano L, Sacco T, Boda E, Brussino A, Bonn F, Castellotti B, Baratta S, Mariotti C, Gellera C, Fracasso V, Magri S, Langer T, Plevani P, Di Donato S, Muzi-Falconi M, Taroni F.

Nat Genet. 2010 Apr;42(4):313-21. doi: 10.1038/ng.544. Epub 2010 Mar 7.

PMID:
20208537
41.

Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2.

Mantuano E, Romano S, Veneziano L, Gellera C, Castellotti B, Caimi S, Testa D, Estienne M, Zorzi G, Bugiani M, Rajabally YA, Barcina MJ, Servidei S, Panico A, Frontali M, Mariotti C.

J Neurol Sci. 2010 Apr 15;291(1-2):30-6. doi: 10.1016/j.jns.2010.01.010. Epub 2010 Feb 2.

PMID:
20129625
42.

Mutations of FUS gene in sporadic amyotrophic lateral sclerosis.

Corrado L, Del Bo R, Castellotti B, Ratti A, Cereda C, Penco S, Sorarù G, Carlomagno Y, Ghezzi S, Pensato V, Colombrita C, Gagliardi S, Cozzi L, Orsetti V, Mancuso M, Siciliano G, Mazzini L, Comi GP, Gellera C, Ceroni M, D'Alfonso S, Silani V.

J Med Genet. 2010 Mar;47(3):190-4. doi: 10.1136/jmg.2009.071027. Epub 2009 Oct 26.

PMID:
19861302
43.

No association of DPP6 with amyotrophic lateral sclerosis in an Italian population.

Fogh I, D'Alfonso S, Gellera C, Ratti A, Cereda C, Penco S, Corrado L, Sorarù G, Castellotti B, Tiloca C, Gagliardi S, Cozzi L, Lupton MK, Ticozzi N, Mazzini L, Shaw CE, Al-Chalabi A, Powell J, Silani V.

Neurobiol Aging. 2011 May;32(5):966-7. doi: 10.1016/j.neurobiolaging.2009.05.014. Epub 2009 Jun 13.

PMID:
19525032
44.

High frequency of TARDBP gene mutations in Italian patients with amyotrophic lateral sclerosis.

Corrado L, Ratti A, Gellera C, Buratti E, Castellotti B, Carlomagno Y, Ticozzi N, Mazzini L, Testa L, Taroni F, Baralle FE, Silani V, D'Alfonso S.

Hum Mutat. 2009 Apr;30(4):688-94. doi: 10.1002/humu.20950.

PMID:
19224587
45.

Paroxysmal movement disorders in GLUT1 deficiency syndrome.

Zorzi G, Castellotti B, Zibordi F, Gellera C, Nardocci N.

Neurology. 2008 Jul 8;71(2):146-8. doi: 10.1212/01.wnl.0000316804.10020.ba. No abstract available.

PMID:
18606970
46.

Autosomal dominant lateral temporal epilepsy: absence of mutations in ADAM22 and Kv1 channel genes encoding LGI1-associated proteins.

Diani E, Di Bonaventura C, Mecarelli O, Gambardella A, Elia M, Bovo G, Bisulli F, Pinardi F, Binelli S, Egeo G, Castellotti B, Striano P, Striano S, Bianchi A, Ferlazzo E, Vianello V, Coppola G, Aguglia U, Tinuper P, Giallonardo AT, Michelucci R, Nobile C.

Epilepsy Res. 2008 Jul;80(1):1-8. doi: 10.1016/j.eplepsyres.2008.03.001. Epub 2008 Apr 28.

PMID:
18440780
47.

Ataxia with oculomotor apraxia type 1 (AOA1): clinical and neuropsychological features in 2 new patients and differential diagnosis.

D'Arrigo S, Riva D, Bulgheroni S, Chiapparini L, Castellotti B, Gellera C, Pantaleoni C.

J Child Neurol. 2008 Aug;23(8):895-900. doi: 10.1177/0883073808314959. Epub 2008 Apr 10.

PMID:
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