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Items: 1 to 50 of 137

1.

Defining the clinical-genetic and neuroradiological features in SPG54: description of eight additional cases and nine novel DDHD2 variants.

Nicita F, Stregapede F, Tessa A, Bassi MT, Jezela-Stanek A, Primiano G, Pizzuti A, Barghigiani M, Nardella M, Zanni G, Servidei S, Astrea G, Panzeri E, Maghini C, Losito L, Ploski R, Gasperowicz P, Santorelli FM, Bertini E, Travaglini L.

J Neurol. 2019 Nov;266(11):2657-2664. doi: 10.1007/s00415-019-09466-y. Epub 2019 Jul 13.

PMID:
31302745
2.

Epilepsy in Tubulinopathy: Personal Series and Literature Review.

Romaniello R, Zucca C, Arrigoni F, Bonanni P, Panzeri E, Bassi MT, Borgatti R.

Cells. 2019 Jul 2;8(7). pii: E669. doi: 10.3390/cells8070669.

3.

A Novel CAPN1 Mutation Causes a Pure Hereditary Spastic Paraplegia in an Italian Family.

Cotti Piccinelli S, Bassi MT, Citterio A, Manganelli F, Tozza S, Santorelli FM, Gallo Cassarino S, Caria F, Baldelli E, Galvagni A, Santoro L, Padovani A, Filosto M.

Front Neurol. 2019 Jun 5;10:580. doi: 10.3389/fneur.2019.00580. eCollection 2019.

4.

FAHN/SPG35: a narrow phenotypic spectrum across disease classifications.

Rattay TW, Lindig T, Baets J, Smets K, Deconinck T, Söhn AS, Hörtnagel K, Eckstein KN, Wiethoff S, Reichbauer J, Döbler-Neumann M, Krägeloh-Mann I, Auer-Grumbach M, Plecko B, Münchau A, Wilken B, Janauschek M, Giese AK, De Bleecker JL, Ortibus E, Debyser M, Lopez de Munain A, Pujol A, Bassi MT, D'Angelo MG, De Jonghe P, Züchner S, Bauer P, Schöls L, Schüle R.

Brain. 2019 Jun 1;142(6):1561-1572. doi: 10.1093/brain/awz102.

PMID:
31135052
5.

Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7.

Coarelli G, Schule R, van de Warrenburg BPC, De Jonghe P, Ewenczyk C, Martinuzzi A, Synofzik M, Hamer EG, Baets J, Anheim M, Schöls L, Deconinck T, Masrori P, Fontaine B, Klockgether T, D'Angelo MG, Monin ML, De Bleecker J, Migeotte I, Charles P, Bassi MT, Klopstock T, Mochel F, Ollagnon-Roman E, D'Hooghe M, Kamm C, Kurzwelly D, Papin M, Davoine CS, Banneau G, Tezenas du Montcel S, Seilhean D, Brice A, Duyckaerts C, Stevanin G, Durr A.

Neurology. 2019 Jun 4;92(23):e2679-e2690. doi: 10.1212/WNL.0000000000007606. Epub 2019 May 8.

PMID:
31068484
6.

The Fine Tuning of Drp1-Dependent Mitochondrial Remodeling and Autophagy Controls Neuronal Differentiation.

Vantaggiato C, Castelli M, Giovarelli M, Orso G, Bassi MT, Clementi E, De Palma C.

Front Cell Neurosci. 2019 Apr 4;13:120. doi: 10.3389/fncel.2019.00120. eCollection 2019.

7.

Charcot-Marie-Tooth disease with pyramidal features due to a new mutation of EGR2 gene.

Fusco C, Spagnoli C, Salerno GG, Pavlidis E, Frattini D, Pisani F, Bassi MT.

Acta Biomed. 2019 Jan 24;90(1):104-107. doi: 10.23750/abm.v90i1.6951.

8.

Broadening the Spectrum of Adulthood X-Linked Adrenoleukodystrophy: A Report of Two Atypical Cases.

Foschi M, Vacchiano V, Avoni P, Incensi A, Battaglia S, Donadio V, Panzeri E, Bassi MT, Liguori R, Rizzo G.

Front Neurol. 2019 Feb 6;10:70. doi: 10.3389/fneur.2019.00070. eCollection 2019.

9.

"Ears of the Lynx" MRI Sign Is Associated with SPG11 and SPG15 Hereditary Spastic Paraplegia.

Pascual B, de Bot ST, Daniels MR, França MC Jr, Toro C, Riverol M, Hedera P, Bassi MT, Bresolin N, van de Warrenburg BP, Kremer B, Nicolai J, Charles P, Xu J, Singh S, Patronas NJ, Fung SH, Gregory MD, Masdeu JC.

AJNR Am J Neuroradiol. 2019 Jan;40(1):199-203. doi: 10.3174/ajnr.A5935. Epub 2019 Jan 3.

PMID:
30606727
10.

KIF5A and ALS2 Variants in a Family With Hereditary Spastic Paraplegia and Amyotrophic Lateral Sclerosis.

Simone M, Trabacca A, Panzeri E, Losito L, Citterio A, Bassi MT.

Front Neurol. 2018 Dec 7;9:1078. doi: 10.3389/fneur.2018.01078. eCollection 2018.

11.

Tensor-based morphometry using scalar and directional information of diffusion tensor MRI data (DTBM): Application to hereditary spastic paraplegia.

Sadeghi N, Arrigoni F, D'Angelo MG, Thomas C, Irfanoglu MO, Hutchinson EB, Nayak A, Modi P, Bassi MT, Pierpaoli C.

Hum Brain Mapp. 2018 Dec;39(12):4643-4651. doi: 10.1002/hbm.24278. Epub 2018 Sep 25.

PMID:
30253021
12.

ZFYVE26/SPASTIZIN and SPG11/SPATACSIN mutations in hereditary spastic paraplegia types AR-SPG15 and AR-SPG11 have different effects on autophagy and endocytosis.

Vantaggiato C, Panzeri E, Castelli M, Citterio A, Arnoldi A, Santorelli FM, Liguori R, Scarlato M, Musumeci O, Toscano A, Clementi E, Bassi MT.

Autophagy. 2019 Jan;15(1):34-57. doi: 10.1080/15548627.2018.1507438. Epub 2018 Sep 13.

13.

Autophagy controls neonatal myogenesis by regulating the GH-IGF1 system through a NFE2L2- and DDIT3-mediated mechanism.

Zecchini S, Giovarelli M, Perrotta C, Morisi F, Touvier T, Di Renzo I, Moscheni C, Bassi MT, Cervia D, Sandri M, Clementi E, De Palma C.

Autophagy. 2019 Jan;15(1):58-77. doi: 10.1080/15548627.2018.1507439. Epub 2018 Sep 10.

14.

The spectrum of brainstem malformations associated to mutations of the tubulin genes family: MRI and DTI analysis.

Arrigoni F, Romaniello R, Peruzzo D, Poretti A, Bassi MT, Pierpaoli C, Valente EM, Nuovo S, Boltshauser E, Huisman TAGM, Triulzi F, Borgatti R.

Eur Radiol. 2019 Feb;29(2):770-782. doi: 10.1007/s00330-018-5610-0. Epub 2018 Jul 31.

PMID:
30066250
15.

Tubulin genes and malformations of cortical development.

Romaniello R, Arrigoni F, Fry AE, Bassi MT, Rees MI, Borgatti R, Pilz DT, Cushion TD.

Eur J Med Genet. 2018 Dec;61(12):744-754. doi: 10.1016/j.ejmg.2018.07.012. Epub 2018 Jul 17. Review.

PMID:
30016746
16.

Nitric Oxide Generated by Tumor-Associated Macrophages Is Responsible for Cancer Resistance to Cisplatin and Correlated With Syntaxin 4 and Acid Sphingomyelinase Inhibition.

Perrotta C, Cervia D, Di Renzo I, Moscheni C, Bassi MT, Campana L, Martelli C, Catalani E, Giovarelli M, Zecchini S, Coazzoli M, Capobianco A, Ottobrini L, Lucignani G, Rosa P, Rovere-Querini P, De Palma C, Clementi E.

Front Immunol. 2018 May 29;9:1186. doi: 10.3389/fimmu.2018.01186. eCollection 2018.

17.

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.

18.

Erratum to: Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation.

Romaniello R, Arrigoni F, Panzeri E, Poretti A, Micalizzi A, Citterio A, Bedeschi MF, Berardinelli A, Cusmai R, D'Arrigo S, Ferraris A, Hackenberg A, Kuechler A, Mancardi M, Nuovo S, Oehl-Jaschkowitz B, Rossi A, Signorini S, Tüttelmann F, Wahl D, Hehr U, Boltshauser E, Bassi MT, Valente EM, Borgatti R.

Eur Radiol. 2017 Dec;27(12):5093. doi: 10.1007/s00330-017-4986-6. No abstract available.

PMID:
28900662
19.

Exome sequencing reveals a novel homozygous mutation in ACP33 gene in the first Italian family with SPG21.

Scarlato M, Citterio A, Barbieri A, Godi C, Panzeri E, Bassi MT.

J Neurol. 2017 Sep;264(9):2021-2023. doi: 10.1007/s00415-017-8558-0. Epub 2017 Jul 27. No abstract available.

PMID:
28752238
20.

Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation.

Romaniello R, Arrigoni F, Panzeri E, Poretti A, Micalizzi A, Citterio A, Bedeschi MF, Berardinelli A, Cusmai R, D'Arrigo S, Ferraris A, Hackenberg A, Kuechler A, Mancardi M, Nuovo S, Oehl-Jaschkowitz B, Rossi A, Signorini S, Tüttelmann F, Wahl D, Hehr U, Boltshauser E, Bassi MT, Valente EM, Borgatti R.

Eur Radiol. 2017 Dec;27(12):5080-5092. doi: 10.1007/s00330-017-4945-2. Epub 2017 Jul 4. Erratum in: Eur Radiol. 2017 Sep 12;:.

PMID:
28677066
21.

Reversal of Defective Mitochondrial Biogenesis in Limb-Girdle Muscular Dystrophy 2D by Independent Modulation of Histone and PGC-1α Acetylation.

Pambianco S, Giovarelli M, Perrotta C, Zecchini S, Cervia D, Di Renzo I, Moscheni C, Ripolone M, Violano R, Moggio M, Bassi MT, Puri PL, Latella L, Clementi E, De Palma C.

Cell Rep. 2016 Dec 13;17(11):3010-3023. doi: 10.1016/j.celrep.2016.11.044.

22.

Clinical Characterization, Genetics, and Long-Term Follow-up of a Large Cohort of Patients With Agenesis of the Corpus Callosum.

Romaniello R, Marelli S, Giorda R, Bedeschi MF, Bonaglia MC, Arrigoni F, Triulzi F, Bassi MT, Borgatti R.

J Child Neurol. 2017 Jan;32(1):60-71. doi: 10.1177/0883073816664668. Epub 2016 Sep 29.

PMID:
27683483
23.

Clinical Pregenetic Screening for Stroke Monogenic Diseases: Results From Lombardia GENS Registry.

Bersano A, Markus HS, Quaglini S, Arbustini E, Lanfranconi S, Micieli G, Boncoraglio GB, Taroni F, Gellera C, Baratta S, Penco S, Mosca L, Grasso M, Carrera P, Ferrari M, Cereda C, Grieco G, Corti S, Ronchi D, Bassi MT, Obici L, Parati EA, Pezzini A, De Lodovici ML, Verrengia EP, Bono G, Mazucchelli F, Zarcone D, Calloni MV, Perrone P, Bordo BM, Colombo A, Padovani A, Cavallini A, Beretta S, Ferrarese C, Motto C, Agostoni E, Molini G, Sasanelli F, Corato M, Marcheselli S, Sessa M, Comi G, Checcarelli N, Guidotti M, Uccellini D, Capitani E, Tancredi L, Arnaboldi M, Incorvaia B, Tadeo CS, Fusi L, Grampa G, Merlini G, Trobia N, Comi GP, Braga M, Vitali P, Baron P, Grond-Ginsbach C, Candelise L; Lombardia GENS Group*.

Stroke. 2016 Jul;47(7):1702-9. doi: 10.1161/STROKEAHA.115.012281. Epub 2016 May 31.

PMID:
27245348
24.

Clinical and Paraclinical Indicators of Motor System Impairment in Hereditary Spastic Paraplegia: A Pilot Study.

Martinuzzi A, Montanaro D, Vavla M, Paparella G, Bonanni P, Musumeci O, Brighina E, Hlavata H, Rossi G, Aghakhanyan G, Martino N, Baratto A, D'Angelo MG, Peruch F, Fantin M, Arnoldi A, Citterio A, Vantaggiato C, Rizzo V, Toscano A, Bresolin N, Bassi MT.

PLoS One. 2016 Apr 14;11(4):e0153283. doi: 10.1371/journal.pone.0153283. eCollection 2016.

25.

Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition).

Klionsky DJ, Abdelmohsen K, Abe A, Abedin MJ, Abeliovich H, Acevedo Arozena A, Adachi H, Adams CM, Adams PD, Adeli K, Adhihetty PJ, Adler SG, Agam G, Agarwal R, Aghi MK, Agnello M, Agostinis P, Aguilar PV, Aguirre-Ghiso J, Airoldi EM, Ait-Si-Ali S, Akematsu T, Akporiaye ET, Al-Rubeai M, Albaiceta GM, Albanese C, Albani D, Albert ML, Aldudo J, Algül H, Alirezaei M, Alloza I, Almasan A, Almonte-Beceril M, Alnemri ES, Alonso C, Altan-Bonnet N, Altieri DC, Alvarez S, Alvarez-Erviti L, Alves S, Amadoro G, Amano A, Amantini C, Ambrosio S, Amelio I, Amer AO, Amessou M, Amon A, An Z, Anania FA, Andersen SU, Andley UP, Andreadi CK, Andrieu-Abadie N, Anel A, Ann DK, Anoopkumar-Dukie S, Antonioli M, Aoki H, Apostolova N, Aquila S, Aquilano K, Araki K, Arama E, Aranda A, Araya J, Arcaro A, Arias E, Arimoto H, Ariosa AR, Armstrong JL, Arnould T, Arsov I, Asanuma K, Askanas V, Asselin E, Atarashi R, Atherton SS, Atkin JD, Attardi LD, Auberger P, Auburger G, Aurelian L, Autelli R, Avagliano L, Avantaggiati ML, Avrahami L, Awale S, Azad N, Bachetti T, Backer JM, Bae DH, Bae JS, Bae ON, Bae SH, Baehrecke EH, Baek SH, Baghdiguian S, Bagniewska-Zadworna A, Bai H, Bai J, Bai XY, Bailly Y, Balaji KN, Balduini W, Ballabio A, Balzan R, Banerjee R, Bánhegyi G, Bao H, Barbeau B, Barrachina MD, Barreiro E, Bartel B, Bartolomé A, Bassham DC, Bassi MT, Bast RC Jr, Basu A, Batista MT, Batoko H, Battino M, Bauckman K, Baumgarner BL, Bayer KU, Beale R, Beaulieu JF, Beck GR Jr, Becker C, Beckham JD, Bédard PA, Bednarski PJ, Begley TJ, Behl C, Behrends C, Behrens GM, Behrns KE, Bejarano E, Belaid A, Belleudi F, Bénard G, Berchem G, Bergamaschi D, Bergami M, Berkhout B, Berliocchi L, Bernard A, Bernard M, Bernassola F, Bertolotti A, Bess AS, Besteiro S, Bettuzzi S, Bhalla S, Bhattacharyya S, Bhutia SK, Biagosch C, Bianchi MW, Biard-Piechaczyk M, Billes V, Bincoletto C, Bingol B, Bird SW, Bitoun M, Bjedov I, Blackstone C, Blanc L, Blanco GA, Blomhoff HK, Boada-Romero E, Böckler S, Boes M, Boesze-Battaglia K, Boise LH, Bolino A, Boman A, Bonaldo P, Bordi M, Bosch J, Botana LM, Botti J, Bou G, Bouché M, Bouchecareilh M, Boucher MJ, Boulton ME, Bouret SG, Boya P, Boyer-Guittaut M, Bozhkov PV, Brady N, Braga VM, Brancolini C, Braus GH, Bravo-San Pedro JM, Brennan LA, Bresnick EH, Brest P, Bridges D, Bringer MA, Brini M, Brito GC, Brodin B, Brookes PS, Brown EJ, Brown K, Broxmeyer HE, Bruhat A, Brum PC, Brumell JH, Brunetti-Pierri N, Bryson-Richardson RJ, Buch S, Buchan AM, Budak H, Bulavin DV, Bultman SJ, Bultynck G, Bumbasirevic V, Burelle Y, Burke RE, Burmeister M, Bütikofer P, Caberlotto L, Cadwell K, Cahova M, Cai D, Cai J, Cai Q, Calatayud S, Camougrand N, Campanella M, Campbell GR, Campbell M, Campello S, Candau R, Caniggia I, Cantoni L, Cao L, Caplan AB, Caraglia M, Cardinali C, Cardoso SM, Carew JS, Carleton LA, Carlin CR, Carloni S, Carlsson SR, Carmona-Gutierrez D, Carneiro LA, Carnevali O, Carra S, Carrier A, Carroll B, Casas C, Casas J, Cassinelli G, Castets P, Castro-Obregon S, Cavallini G, Ceccherini I, Cecconi F, Cederbaum AI, Ceña V, Cenci S, Cerella C, Cervia D, Cetrullo S, Chaachouay H, Chae HJ, Chagin AS, Chai CY, Chakrabarti G, Chamilos G, Chan EY, Chan MT, Chandra D, Chandra P, Chang CP, Chang RC, Chang TY, Chatham JC, Chatterjee S, Chauhan S, Che Y, Cheetham ME, Cheluvappa R, Chen CJ, Chen G, Chen GC, Chen G, Chen H, Chen JW, Chen JK, Chen M, Chen M, Chen P, Chen Q, Chen Q, Chen SD, Chen S, Chen SS, Chen W, Chen WJ, Chen WQ, Chen W, Chen X, Chen YH, Chen YG, Chen Y, Chen Y, Chen Y, Chen YJ, Chen YQ, Chen Y, Chen Z, Chen Z, Cheng A, Cheng CH, Cheng H, Cheong H, Cherry S, Chesney J, Cheung CH, Chevet E, Chi HC, Chi SG, Chiacchiera F, Chiang HL, Chiarelli R, Chiariello M, Chieppa M, Chin LS, Chiong M, Chiu GN, Cho DH, Cho SG, Cho WC, Cho YY, Cho YS, Choi AM, Choi EJ, Choi EK, Choi J, Choi ME, Choi SI, Chou TF, Chouaib S, Choubey D, Choubey V, Chow KC, Chowdhury K, Chu CT, Chuang TH, Chun T, Chung H, Chung T, Chung YL, Chwae YJ, Cianfanelli V, Ciarcia R, Ciechomska IA, Ciriolo MR, Cirone M, Claerhout S, Clague MJ, Clària J, Clarke PG, Clarke R, Clementi E, Cleyrat C, Cnop M, Coccia EM, Cocco T, Codogno P, Coers J, Cohen EE, Colecchia D, Coletto L, Coll NS, Colucci-Guyon E, Comincini S, Condello M, Cook KL, Coombs GH, Cooper CD, Cooper JM, Coppens I, Corasaniti MT, Corazzari M, Corbalan R, Corcelle-Termeau E, Cordero MD, Corral-Ramos C, Corti O, Cossarizza A, Costelli P, Costes S, Cotman SL, Coto-Montes A, Cottet S, Couve E, Covey LR, Cowart LA, Cox JS, Coxon FP, Coyne CB, Cragg MS, Craven RJ, Crepaldi T, Crespo JL, Criollo A, Crippa V, Cruz MT, Cuervo AM, Cuezva JM, Cui T, Cutillas PR, Czaja MJ, Czyzyk-Krzeska MF, Dagda RK, Dahmen U, Dai C, Dai W, Dai Y, Dalby KN, Dalla Valle L, Dalmasso G, D'Amelio M, Damme M, Darfeuille-Michaud A, Dargemont C, Darley-Usmar VM, Dasarathy S, Dasgupta B, Dash S, Dass CR, Davey HM, Davids LM, Dávila D, Davis RJ, Dawson TM, Dawson VL, Daza P, de Belleroche J, de Figueiredo P, de Figueiredo RC, de la Fuente J, De Martino L, De Matteis A, De Meyer GR, De Milito A, De Santi M, de Souza W, De Tata V, De Zio D, Debnath J, Dechant R, Decuypere JP, Deegan S, Dehay B, Del Bello B, Del Re DP, Delage-Mourroux R, Delbridge LM, Deldicque L, Delorme-Axford E, Deng Y, Dengjel J, Denizot M, Dent P, Der CJ, Deretic V, Derrien B, Deutsch E, Devarenne TP, Devenish RJ, Di Bartolomeo S, Di Daniele N, Di Domenico F, Di Nardo A, Di Paola S, Di Pietro A, Di Renzo L, DiAntonio A, Díaz-Araya G, Díaz-Laviada I, Diaz-Meco MT, Diaz-Nido J, Dickey CA, Dickson RC, Diederich M, Digard P, Dikic I, Dinesh-Kumar SP, Ding C, Ding WX, Ding Z, Dini L, Distler JH, Diwan A, Djavaheri-Mergny M, Dmytruk K, Dobson RC, Doetsch V, Dokladny K, Dokudovskaya S, Donadelli M, Dong XC, Dong X, Dong Z, Donohue TM Jr, Doran KS, D'Orazi G, Dorn GW 2nd, Dosenko V, Dridi S, Drucker L, Du J, Du LL, Du L, du Toit A, Dua P, Duan L, Duann P, Dubey VK, Duchen MR, Duchosal MA, Duez H, Dugail I, Dumit VI, Duncan MC, Dunlop EA, Dunn WA Jr, Dupont N, Dupuis L, Durán RV, Durcan TM, Duvezin-Caubet S, Duvvuri U, Eapen V, Ebrahimi-Fakhari D, Echard A, Eckhart L, Edelstein CL, Edinger AL, Eichinger L, Eisenberg T, Eisenberg-Lerner A, Eissa NT, El-Deiry WS, El-Khoury V, Elazar Z, Eldar-Finkelman H, Elliott CJ, Emanuele E, Emmenegger U, Engedal N, Engelbrecht AM, Engelender S, Enserink JM, Erdmann R, Erenpreisa J, Eri R, Eriksen JL, Erman A, Escalante R, Eskelinen EL, Espert L, Esteban-Martínez L, Evans TJ, Fabri M, Fabrias G, Fabrizi C, Facchiano A, Færgeman NJ, Faggioni A, Fairlie WD, Fan C, Fan D, Fan J, Fang S, Fanto M, Fanzani A, Farkas T, Faure M, Favier FB, Fearnhead H, Federici M, Fei E, Felizardo TC, Feng H, Feng Y, Feng Y, Ferguson TA, Fernández ÁF, Fernandez-Barrena MG, Fernandez-Checa JC, Fernández-López A, Fernandez-Zapico ME, Feron O, Ferraro E, Ferreira-Halder CV, Fesus L, Feuer R, Fiesel FC, Filippi-Chiela EC, Filomeni G, Fimia GM, Fingert JH, Finkbeiner S, Finkel T, Fiorito F, Fisher PB, 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Aberrant supracallosal longitudinal bundle: MR features, pathogenesis and associated clinical phenotype.

Arrigoni F, Romaniello R, Peruzzo D, Righini A, Parazzini C, Colombo P, Bassi MT, Triulzi F, Borgatti R.

Eur Radiol. 2016 Aug;26(8):2587-96. doi: 10.1007/s00330-015-4084-6. Epub 2015 Nov 11.

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Citterio A, Arnoldi A, Panzeri E, Merlini L, D'Angelo MG, Musumeci O, Toscano A, Bondi A, Martinuzzi A, Bresolin N, Bassi MT.

J Neurol. 2015 Dec;262(12):2684-90. doi: 10.1007/s00415-015-7899-9. Epub 2015 Sep 26.

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A de-novo STXBP1 gene mutation in a patient showing the Rett syndrome phenotype.

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Neuroreport. 2015 Mar 25;26(5):254-7. doi: 10.1097/WNR.0000000000000337.

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J Clin Neuromuscul Dis. 2015 Mar;16(3):153-8. doi: 10.1097/CND.0000000000000063.

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Apoptosis. 2015 May;20(5):635-44. doi: 10.1007/s10495-015-1101-9. Review.

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Hereditary Spastic Paraplegia: Beyond Clinical Phenotypes toward a Unified Pattern of Central Nervous System Damage.

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Radiology. 2015 Jul;276(1):207-18. doi: 10.1148/radiol.14141715. Epub 2015 Jan 22.

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Skelet Muscle. 2014 Dec 12;4(1):22. doi: 10.1186/s13395-014-0022-6. eCollection 2014.

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A novel KCNQ3 gene mutation in a child with infantile convulsions and partial epilepsy with centrotemporal spikes.

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Eur J Paediatr Neurol. 2015 Jan;19(1):102-3. doi: 10.1016/j.ejpn.2014.08.006. Epub 2014 Sep 18. No abstract available.

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J Clin Invest. 2014 Nov;124(11):4829-42. doi: 10.1172/JCI68506. Epub 2014 Oct 1.

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The blurred scenario of motor neuron disorders linked to Spatacsin mutations: a case report.

Querin G, Bertolin C, Martinuzzi A, Bassi MT, Arnoldi A, Polo A, Pegoraro E, Sorarù G.

Eur J Neurol. 2014 Oct;21(10):e85-6. doi: 10.1111/ene.12481. No abstract available.

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Atypical late-onset hereditary spastic paraplegia with thin corpus callosum due to novel compound heterozygous mutations in the SPG11 gene.

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J Neurol. 2014 Sep;261(9):1825-7. doi: 10.1007/s00415-014-7443-3. Epub 2014 Jul 25. No abstract available.

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Mutations in α- and β-tubulin encoding genes: implications in brain malformations.

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Brain Dev. 2015 Mar;37(3):273-80. doi: 10.1016/j.braindev.2014.06.002. Epub 2014 Jul 5. Review.

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Liguori R, Giannoccaro MP, Arnoldi A, Citterio A, Tonon C, Lodi R, Bresolin N, Bassi MT.

J Neurol. 2014 Sep;261(9):1789-93. doi: 10.1007/s00415-014-7418-4. Epub 2014 Jul 3.

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Hereditary spastic paraparesis in adults. A clinical and genetic perspective from Tuscany.

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Clin Neurol Neurosurg. 2014 May;120:14-9. doi: 10.1016/j.clineuro.2014.02.002. Epub 2014 Feb 17.

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A novel heterozygous SETX mutation in a patient presenting with chorea and motor neuron disease.

Saracchi E, Castelli M, Bassi MT, Brighina E, Cereda D, Marzorati L, Patassini M, Appollonio I, Ferrarese C, Brighina L.

Amyotroph Lateral Scler Frontotemporal Degener. 2014 Mar;15(1-2):138-40. doi: 10.3109/21678421.2013.865751. Epub 2014 Feb 7. No abstract available.

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Brain malformations and mutations in α- and β-tubulin genes: a review of the literature and description of two new cases.

Romaniello R, Arrigoni F, Cavallini A, Tenderini E, Baschirotto C, Triulzi F, Bassi MT, Borgatti R.

Dev Med Child Neurol. 2014 Apr;56(4):354-60. doi: 10.1111/dmcn.12370. Epub 2014 Jan 7. Review.

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Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis.

Citterio A, Arnoldi A, Panzeri E, D'Angelo MG, Filosto M, Dilena R, Arrigoni F, Castelli M, Maghini C, Germiniasi C, Menni F, Martinuzzi A, Bresolin N, Bassi MT.

J Neurol. 2014 Feb;261(2):373-81. doi: 10.1007/s00415-013-7206-6. Epub 2013 Dec 13.

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ZFYVE26/SPASTIZIN: a close link between complicated hereditary spastic paraparesis and autophagy.

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Autophagy. 2014 Feb;10(2):374-5. doi: 10.4161/auto.27173. Epub 2013 Nov 26.

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Novel SETX variants in a patient with ataxia, neuropathy, and oculomotor apraxia are associated with normal sensitivity to oxidative DNA damaging agents.

Vantaggiato C, Cantoni O, Guidarelli A, Romaniello R, Citterio A, Arrigoni F, Doneda C, Castelli M, Airoldi G, Bresolin N, Borgatti R, Bassi MT.

Brain Dev. 2014 Sep;36(8):682-9. doi: 10.1016/j.braindev.2013.10.003. Epub 2013 Oct 31.

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A novel mutation in STXBP1 gene in a child with epileptic encephalopathy and an atypical electroclinical pattern.

Romaniello R, Zucca C, Tenderini E, Arrigoni F, Ragona F, Zorzi G, Bassi MT, Borgatti R.

J Child Neurol. 2014 Feb;29(2):249-53. doi: 10.1177/0883073813506936. Epub 2013 Oct 29.

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Defective autophagy in spastizin mutated patients with hereditary spastic paraparesis type 15.

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Brain. 2013 Oct;136(Pt 10):3119-39. doi: 10.1093/brain/awt227. Epub 2013 Sep 11.

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A novel ATP1A2 gene mutation in familial hemiplegic migraine and epilepsy.

Costa C, Prontera P, Sarchielli P, Tonelli A, Bassi MT, Cupini LM, Caproni S, Siliquini S, Donti E, Calabresi P.

Cephalalgia. 2014 Jan;34(1):68-72. doi: 10.1177/0333102413498941. Epub 2013 Aug 5.

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Considerations on a mutation in the NOTCH3 gene sparing a cysteine residue: a rare polymorphism rather than a CADASIL variant.

Bersano A, Ranieri M, Ciammola A, Cinnante C, Lanfranconi S, Dotti MT, Candelise L, Baschirotto C, Ghione I, Ballabio E, Bresolin N, Bassi MT.

Funct Neurol. 2012 Oct-Dec;27(4):247-52.

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Cerebroretinal microangiopathy with calcifications and cysts associated with CTC1 and NDP mutations.

Romaniello R, Arrigoni F, Citterio A, Tonelli A, Sforzini C, Rizzari C, Pessina M, Triulzi F, Bassi MT, Borgatti R.

J Child Neurol. 2013 Dec;28(12):1702-8. doi: 10.1177/0883073812467849. Epub 2012 Dec 5.

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A 66-year-old patient with vanishing white matter disease due to the p.Ala87Val EIF2B3 mutation.

Ghezzi L, Scarpini E, Rango M, Arighi A, Bassi MT, Tenderini E, De Riz M, Jacini F, Fumagalli GG, Pietroboni AM, Galimberti D, Bresolin N.

Neurology. 2012 Nov 13;79(20):2077-8. doi: 10.1212/WNL.0b013e3182749edc. Epub 2012 Oct 31.

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