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Items: 1 to 50 of 615

1.

Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review.

Garau J, Cavallera V, Valente M, Tonduti D, Sproviero D, Zucca S, Battaglia D, Battini R, Bertini E, Cappanera S, Chiapparini L, Crasà C, Crichiutti G, Dalla Giustina E, D'Arrigo S, De Giorgis V, De Simone M, Galli J, La Piana R, Messana T, Moroni I, Nardocci N, Panteghini C, Parazzini C, Pichiecchio A, Pini A, Ricci F, Saletti V, Salvatici E, Santorelli FM, Sartori S, Tinelli F, Uggetti C, Veneselli E, Zorzi G, Garavaglia B, Fazzi E, Orcesi S, Cereda C.

J Clin Med. 2019 May 26;8(5). pii: E750. doi: 10.3390/jcm8050750.

2.

The MYB5-driven MBW complex recruits a WRKY factor to enhance the expression of targets involved in vacuolar hyper-acidification and trafficking in grapevine.

Amato A, Cavallini E, Walker AR, Pezzotti M, Bliek M, Quattrocchio F, Koes R, Ruperti B, Bertini E, Zenoni S, Tornielli GB.

Plant J. 2019 May 24. doi: 10.1111/tpj.14419. [Epub ahead of print]

PMID:
31125454
3.

Heterozygous missense variants of SPTBN2 are a frequent cause of congenital cerebellar ataxia.

Nicita F, Nardella M, Bellacchio E, Alfieri P, Terrone G, Piccini G, Graziola F, Pignata C, Capuano A, Bertini E, Zanni G.

Clin Genet. 2019 May 8. doi: 10.1111/cge.13562. [Epub ahead of print]

PMID:
31066025
4.

Response to Jardim and colleagues regarding comments on 'Natural history of a cohort of ABCD1 variant female carriers'.

Schirinzi T, Vasco G, Bertini ES, Cappa M.

Eur J Neurol. 2019 May 6. doi: 10.1111/ene.13947. [Epub ahead of print] No abstract available.

PMID:
31058396
5.

Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing.

Saoura M, Powell CA, Kopajtich R, Alahmad A, Al-Balool HH, Albash B, Alfadhel M, Alston CL, Bertini E, Bonnen P, Bratkovic D, Carrozzo R, Donati MA, Nottia MD, Ghezzi D, Goldstein A, Haan E, Horvath R, Hughes J, Invernizzi F, Lamantea E, Lucas B, Pinnock KG, Pujantell M, Rahman S, Rebelo-Guiomar P, Santra S, Verrigni D, McFarland R, Prokisch H, Taylor RW, Levinger L, Minczuk M.

Hum Mutat. 2019 May 2. doi: 10.1002/humu.23777. [Epub ahead of print]

PMID:
31045291
6.

Transient Expression in Red Beet of a Biopharmaceutical Candidate Vaccine for Type-1 Diabetes.

Santoni M, Bertini E, Zampieri R, Cuccurullo A, Commisso M, Gecchele E, Avesani L.

J Vis Exp. 2019 Mar 19;(145). doi: 10.3791/59298.

PMID:
30958463
7.

Targeting ferroptosis: A novel therapeutic strategy for the treatment of mitochondrial disease-related epilepsy.

Kahn-Kirby AH, Amagata A, Maeder CI, Mei JJ, Sideris S, Kosaka Y, Hinman A, Malone SA, Bruegger JJ, Wang L, Kim V, Shrader WD, Hoff KG, Latham JC, Ashley EA, Wheeler MT, Bertini E, Carrozzo R, Martinelli D, Dionisi-Vici C, Chapman KA, Enns GM, Gahl W, Wolfe L, Saneto RP, Johnson SC, Trimmer JK, Klein MB, Holst CR.

PLoS One. 2019 Mar 28;14(3):e0214250. doi: 10.1371/journal.pone.0214250. eCollection 2019.

8.

Correction to: Biallelic Variants in the Nuclear Pore Complex Protein NUP93 Are Associated with Non-progressive Congenital Ataxia.

Zanni G, De Magistris P, Nardella M, Bellacchio E, Barresi S, Sferra A, Ciolfi A, Motta M, Lue H, Moreno-Andres D, Tartaglia M, Bertini E, Antonin W.

Cerebellum. 2019 Jun;18(3):433-434. doi: 10.1007/s12311-019-01021-9.

PMID:
30835075
9.

Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathy.

Verrigni D, Di Nottia M, Ardissone A, Baruffini E, Nasca A, Legati A, Bellacchio E, Fagiolari G, Martinelli D, Fusco L, Battaglia D, Trani G, Versienti G, Marchet S, Torraco A, Rizza T, Verardo M, D'Amico A, Diodato D, Moroni I, Lamperti C, Petrini S, Moggio M, Goffrini P, Ghezzi D, Carrozzo R, Bertini E.

Hum Mutat. 2019 May;40(5):601-618. doi: 10.1002/humu.23729. Epub 2019 Mar 9.

PMID:
30801875
10.

Biallelic Variants in the Nuclear Pore Complex Protein NUP93 Are Associated with Non-progressive Congenital Ataxia.

Zanni G, De Magistris P, Nardella M, Bellacchio E, Barresi S, Sferra A, Ciolfi A, Motta M, Lue H, Moreno-Andres D, Tartaglia M, Bertini E, Antonin W.

Cerebellum. 2019 Jun;18(3):422-432. doi: 10.1007/s12311-019-1010-5. Erratum in: Cerebellum. 2019 Mar 5;:.

PMID:
30741391
11.

An unusual case of late-infantile onset Krabbe disease with selective bilateral corticospinal tract involvement, peripheral demyelinating neuropathy, and mild phenotype.

Nicita F, Graziola F, Vigevano F, Bertini E, Capuano A.

Acta Neurol Belg. 2019 Feb 7. doi: 10.1007/s13760-019-01087-6. [Epub ahead of print] No abstract available.

PMID:
30729410
12.

Clinical, radiological, and genetic characteristics of 16 patients with ACO2 gene defects: Delineation of an emerging neurometabolic syndrome.

Sharkia R, Wierenga KJ, Kessel A, Azem A, Bertini E, Carrozzo R, Torraco A, Goffrini P, Ceccatelli Berti C, McCormick ME, Plecko B, Klein A, Abela L, Hengel H, Schöls L, Shalev S, Khayat M, Mahajnah M, Spiegel R.

J Inherit Metab Dis. 2019 Mar;42(2):264-275. doi: 10.1002/jimd.12022. Epub 2019 Jan 28.

PMID:
30689204
13.

Heart rate reduction strategy using ivabradine in end-stage Duchenne cardiomyopathy.

Adorisio R, Calvieri C, Cantarutti N, D'Amico A, Catteruccia M, Bertini E, Baban A, Filippelli S, Perri G, Amodeo A, Drago F.

Int J Cardiol. 2019 Apr 1;280:99-103. doi: 10.1016/j.ijcard.2019.01.052. Epub 2019 Jan 17.

PMID:
30686494
14.

Diagnosis of 'possible' mitochondrial disease: an existential crisis.

Parikh S, Karaa A, Goldstein A, Bertini ES, Chinnery PF, Christodoulou J, Cohen BH, Davis RL, Falk MJ, Fratter C, Horvath R, Koenig MK, Mancuso M, McCormack S, McCormick EM, McFarland R, Nesbitt V, Schiff M, Steele H, Stockler S, Sue C, Tarnopolsky M, Thorburn DR, Vockley J, Rahman S.

J Med Genet. 2019 Mar;56(3):123-130. doi: 10.1136/jmedgenet-2018-105800. Epub 2019 Jan 25.

PMID:
30683676
15.

Endophytic microorganisms Agrobacterium tumefaciens 6N2 and Meyerozyma guilliermondii 6N serve as models for the study of microbial interactions in colony biofilms.

Bertini EV, Leguina ACDV, Castellanos de Figueroa LI, Nieto-Peñalver CG.

Rev Argent Microbiol. 2019 Jan 13. pii: S0325-7541(18)30123-8. doi: 10.1016/j.ram.2018.09.006. [Epub ahead of print] No abstract available.

16.

Phenomenology and clinical course of movement disorder in GNAO1 variants: Results from an analytical review.

Schirinzi T, Garone G, Travaglini L, Vasco G, Galosi S, Rios L, Castiglioni C, Barassi C, Battaglia D, Gambardella ML, Cantonetti L, Graziola F, Marras CE, Castelli E, Bertini E, Capuano A, Leuzzi V.

Parkinsonism Relat Disord. 2019 Apr;61:19-25. doi: 10.1016/j.parkreldis.2018.11.019. Epub 2018 Nov 16. Review.

PMID:
30642806
17.

SLC2A1 mutations are a rare cause of pediatric-onset hereditary spastic paraplegia.

Nicita F, Schirinzi T, Stregapede F, Vasco G, Bertini E, Travaglini L.

Eur J Paediatr Neurol. 2019 Mar;23(2):329-332. doi: 10.1016/j.ejpn.2018.12.004. Epub 2018 Dec 18.

PMID:
30616884
18.

A novel KCTD17 mutation is associated with childhood early-onset hyperkinetic movement disorder.

Graziola F, Stregapede F, Travaglini L, Garone G, Verardo M, Bosco L, Pro S, Bertini E, Curatolo P, Vigevano F, Capuano A.

Parkinsonism Relat Disord. 2019 Apr;61:4-6. doi: 10.1016/j.parkreldis.2018.12.001. Epub 2018 Dec 7. No abstract available.

PMID:
30579817
19.

Primary muscle involvement in a 15-year-old girl with the recurrent homozygous c.362dupC variant in FKBP14.

Castori M, Fiorillo C, Agolini E, Sacco M, Minetti C, Novelli A, Guglielmi G, Bertini E.

Am J Med Genet A. 2019 Feb;179(2):317-321. doi: 10.1002/ajmg.a.61006. Epub 2018 Dec 18.

PMID:
30561154
20.

Italian recommendations for diagnosis and management of congenital myasthenic syndromes.

Maggi L, Bernasconi P, D'Amico A, Brugnoni R, Fiorillo C, Garibaldi M, Astrea G, Bruno C, Santorelli FM, Liguori R, Antonini G, Evoli A, Bertini E, Rodolico C, Mantegazza R.

Neurol Sci. 2019 Mar;40(3):457-468. doi: 10.1007/s10072-018-3682-x. Epub 2018 Dec 15.

PMID:
30554356
21.

APOPT1/COA8 assists COX assembly and is oppositely regulated by UPS and ROS.

Signes A, Cerutti R, Dickson AS, Benincá C, Hinchy EC, Ghezzi D, Carrozzo R, Bertini E, Murphy MP, Nathan JA, Viscomi C, Fernandez-Vizarra E, Zeviani M.

EMBO Mol Med. 2019 Jan;11(1). pii: e9582. doi: 10.15252/emmm.201809582.

22.

Defining the electroclinical phenotype and outcome of PCDH19-related epilepsy: A multicenter study.

Trivisano M, Pietrafusa N, Terracciano A, Marini C, Mei D, Darra F, Accorsi P, Battaglia D, Caffi L, Canevini MP, Cappelletti S, Cesaroni E, de Palma L, Costa P, Cusmai R, Giordano L, Ferrari A, Freri E, Fusco L, Granata T, Martino T, Mastrangelo M, Bova SM, Parmeggiani L, Ragona F, Sicca F, Striano P, Specchio LM, Tondo I, Zambrelli E, Zamponi N, Zanus C, Boniver C, Vecchi M, Avolio C, Dalla Bernardina B, Bertini E, Guerrini R, Vigevano F, Specchio N.

Epilepsia. 2018 Dec;59(12):2260-2271. doi: 10.1111/epi.14600. Epub 2018 Nov 19.

PMID:
30451291
23.

Impaired urinary concentration ability is a sensitive predictor of renal disease progression in Joubert syndrome.

Nuovo S, Fuiano L, Micalizzi A, Battini R, Bertini E, Borgatti R, Caridi G, D'Arrigo S, Fazzi E, Fischetto R, Ghiggeri GM, Giordano L, Leuzzi V, Romaniello R, Signorini S, Stringini G, Zanni G, Romani M, Valente EM, Emma F.

Nephrol Dial Transplant. 2018 Nov 6. doi: 10.1093/ndt/gfy333. [Epub ahead of print]

PMID:
30403813
24.

Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic Patients.

Giugliano T, Savarese M, Garofalo A, Picillo E, Fiorillo C, D'Amico A, Maggi L, Ruggiero L, Vercelli L, Magri F, Fattori F, Torella A, Ergoli M, Rubegni A, Fanin M, Musumeci O, Bleecker J, Peverelli L, Moggio M, Mercuri E, Toscano A, Mora M, Santoro L, Mongini T, Bertini E, Bruno C, Minetti C, Comi GP, Santorelli FM, Angelini C, Politano L, Piluso G, Nigro V.

Genes (Basel). 2018 Oct 26;9(11). pii: E524. doi: 10.3390/genes9110524.

25.

Non-invasive Focal Mechanical Vibrations Delivered by Wearable Devices: An Open-Label Pilot Study in Childhood Ataxia.

Schirinzi T, Romano A, Favetta M, Sancesario A, Burattini R, Summa S, Della Bella G, Castelli E, Bertini E, Petrarca M, Vasco G.

Front Neurol. 2018 Oct 9;9:849. doi: 10.3389/fneur.2018.00849. eCollection 2018.

26.

The Effect of Color Scales on Climate Scientists' Objective and Subjective Performance in Spatial Data Analysis Tasks.

Dasgupta A, Poco J, Rogowitz B, Han K, Bertini E, Silva CT.

IEEE Trans Vis Comput Graph. 2018 Oct 17. doi: 10.1109/TVCG.2018.2876539. [Epub ahead of print]

PMID:
30334799
27.

Natural history of a cohort of ABCD1 variant female carriers.

Schirinzi T, Vasco G, Aiello C, Rizzo C, Sancesario A, Romano A, Favetta M, Petrarca M, Paone L, Castelli E, Bertini ES, Cappa M.

Eur J Neurol. 2019 Feb;26(2):326-332. doi: 10.1111/ene.13816. Epub 2018 Nov 9.

PMID:
30295399
28.

Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study.

Astrea G, Romano A, Angelini C, Antozzi CG, Barresi R, Battini R, Battisti C, Bertini E, Bruno C, Cassandrini D, Fanin M, Fattori F, Fiorillo C, Guerrini R, Maggi L, Mercuri E, Morani F, Mora M, Moro F, Pezzini I, Picillo E, Pinelli M, Politano L, Rubegni A, Sanseverino W, Savarese M, Striano P, Torella A, Trevisan CP, Trovato R, Zaraieva I, Muntoni F, Nigro V, D'Amico A, Santorelli FM; Italian CMD Network.

Orphanet J Rare Dis. 2018 Sep 26;13(1):170. doi: 10.1186/s13023-018-0863-x.

29.

Timing and Order of the Molecular Events Marking the Onset of Berry Ripening in Grapevine.

Fasoli M, Richter CL, Zenoni S, Bertini E, Vitulo N, Dal Santo S, Dokoozlian N, Pezzotti M, Tornielli GB.

Plant Physiol. 2018 Nov;178(3):1187-1206. doi: 10.1104/pp.18.00559. Epub 2018 Sep 17.

30.

Core-rod myopathy due to a novel mutation in BTB/POZ domain of KBTBD13 manifesting as late onset LGMD.

Garibaldi M, Fattori F, Bortolotti CA, Brochier G, Labasse C, Verardo M, Servian-Morilla E, Gibellini L, Pinti M, Di Rocco G, Raffa S, Pennisi EM, Bertini ES, Paradas C, Romero NB, Antonini G.

Acta Neuropathol Commun. 2018 Sep 13;6(1):94. doi: 10.1186/s40478-018-0595-0. No abstract available.

31.

Lessons Learned Developing a Visual Analytics Solution for Investigative Analysis of Scamming Activities.

Koven J, Felix C, Siadati H, Jakobsson M, Bertini E.

IEEE Trans Vis Comput Graph. 2019 Jan;25(1):225-234. doi: 10.1109/TVCG.2018.2865023. Epub 2018 Aug 20.

PMID:
30136969
32.

RuleMatrix: Visualizing and Understanding Classifiers with Rules.

Ming Y, Qu H, Bertini E.

IEEE Trans Vis Comput Graph. 2018 Aug 20. doi: 10.1109/TVCG.2018.2864812. [Epub ahead of print]

PMID:
30130210
33.

ISCA1 mutation in a patient with infantile-onset leukodystrophy causes defects in mitochondrial [4Fe-4S] proteins.

Torraco A, Stehling O, Stümpfig C, Rösser R, De Rasmo D, Fiermonte G, Verrigni D, Rizza T, Vozza A, Di Nottia M, Diodato D, Martinelli D, Piemonte F, Dionisi-Vici C, Bertini E, Lill R, Carrozzo R.

Hum Mol Genet. 2018 Oct 15;27(20):3650. doi: 10.1093/hmg/ddy273. No abstract available.

PMID:
30113620
34.

An observational study of functional abilities in infants, children, and adults with type 1 SMA.

Pane M, Palermo C, Messina S, Sansone VA, Bruno C, Catteruccia M, Sframeli M, Albamonte E, Pedemonte M, D'Amico A, Brigati G, de Sanctis R, Coratti G, Lucibello S, Bertini E, Vita G, Danilo Tiziano F, Mercuri E; Italian EAP Working Group.

Neurology. 2018 Aug 21;91(8):e696-e703. doi: 10.1212/WNL.0000000000006050. Epub 2018 Jul 25.

35.

Longitudinal gait assessment in a stiff person syndrome.

Schirinzi T, Sancesario A, Romano A, Favetta M, Gobbi M, Valeriani M, Bertini ES, Castelli E, Vasco G, Petrarca M, Della Bella G.

Int J Rehabil Res. 2018 Dec;41(4):377-379. doi: 10.1097/MRR.0000000000000304.

PMID:
30045062
36.

Outcome measures for children with mitochondrial disease: consensus recommendations for future studies from a Delphi-based international workshop.

Koene S, van Bon L, Bertini E, Jimenez-Moreno C, van der Giessen L, de Groot I, McFarland R, Parikh S, Rahman S, Wood M, Zeman J, Janssen A, Smeitink J.

J Inherit Metab Dis. 2018 Nov;41(6):1267-1273. doi: 10.1007/s10545-018-0229-5. Epub 2018 Jul 19.

37.

Corrigendum to "Novel homozygous GBA2 mutation in a patient with complicated spastic paraplegia" [Clin. Neurol. Neurosurg. 168 (May) (2018) 60-63].

Coarelli G, Romano S, Travaglini L, Ferraldeschi M, Nicita F, Spadaro M, Fornasiero A, Frontali M, Salvetti M, Bertini E, Ristori G.

Clin Neurol Neurosurg. 2018 Sep;172:190. doi: 10.1016/j.clineuro.2018.06.025. Epub 2018 Jun 30. No abstract available.

PMID:
29970275
38.

Nusinersen in type 1 SMA infants, children and young adults: Preliminary results on motor function.

Pane M, Palermo C, Messina S, Sansone VA, Bruno C, Catteruccia M, Sframeli M, Albamonte E, Pedemonte M, D'Amico A, Brigati G, de Sanctis R, Coratti G, Lucibello S, Bertini E, Vita G, Tiziano FD, Mercuri E; Italian EAP working group.

Neuromuscul Disord. 2018 Jul;28(7):582-585. doi: 10.1016/j.nmd.2018.05.010. Epub 2018 Jun 1.

PMID:
29960818
39.

Upper limb function in Duchenne muscular dystrophy: 24 month longitudinal data.

Pane M, Coratti G, Brogna C, Mazzone ES, Mayhew A, Fanelli L, Messina S, D'Amico A, Catteruccia M, Scutifero M, Frosini S, Lanzillotta V, Colia G, Cavallaro F, Rolle E, De Sanctis R, Forcina N, Petillo R, Barp A, Gardani A, Pini A, Monaco G, D'Angelo MG, Zanin R, Vita GL, Bruno C, Mongini T, Ricci F, Pegoraro E, Bello L, Berardinelli A, Battini R, Sansone V, Albamonte E, Baranello G, Bertini E, Politano L, Sormani MP, Mercuri E.

PLoS One. 2018 Jun 20;13(6):e0199223. doi: 10.1371/journal.pone.0199223. eCollection 2018.

40.

Nonprogressive congenital ataxias.

Bertini E, Zanni G, Boltshauser E.

Handb Clin Neurol. 2018;155:91-103. doi: 10.1016/B978-0-444-64189-2.00006-8. Review.

PMID:
29891079
41.

X-linked ataxias.

Zanni G, Bertini E.

Handb Clin Neurol. 2018;155:175-189. doi: 10.1016/B978-0-444-64189-2.00011-1. Review.

PMID:
29891057
42.

Myotonia permanens with Nav1.4-G1306E displays varied phenotypes during course of life.

Lehmann-Horn F, D'Amico A, Bertini E, Lomonaco M, Merlini L, Nelson KR, Philippi H, Siciliano G, Spaans F, Jurkat-Rott K.

Acta Myol. 2017 Sep 1;36(3):125-134. eCollection 2017 Sep.

43.

ISCA1 Mutation In A Patient With Infantile-Onset Leukodystrophy Causes Defects In Mitochondrial [4Fe-4S] Proteins.

Torraco A, Stehling O, Stümpfig C, Rösser R, De Rasmo D, Fiermonte G, Verrigni D, Rizza T, Vozza A, Di Nottia M, Diodato D, Martinelli D, Piemonte F, Dionisi-Vici C, Bertini E, Lill R, Carrozzo R.

Hum Mol Genet. 2018 May 14. doi: 10.1093/hmg/ddy183. [Epub ahead of print]

PMID:
29767723
44.

Design of a Type-1 Diabetes Vaccine Candidate Using Edible Plants Expressing a Major Autoantigen.

Bertini E, Merlin M, Gecchele E, Puggia A, Brozzetti A, Commisso M, Falorni A, Bini V, Klymyuk V, Pezzotti M, Avesani L.

Front Plant Sci. 2018 May 1;9:572. doi: 10.3389/fpls.2018.00572. eCollection 2018.

45.

The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes.

Travaglini L, Aiello C, Stregapede F, D'Amico A, Alesi V, Ciolfi A, Bruselles A, Catteruccia M, Pizzi S, Zanni G, Loddo S, Barresi S, Vasco G, Tartaglia M, Bertini E, Nicita F.

Neurogenetics. 2018 May;19(2):111-121. doi: 10.1007/s10048-018-0545-9. Epub 2018 Apr 24.

PMID:
29691679
46.

A 5-center experience with intrathecal administration of nusinersen in SMA1 in Italy letter to the editor of european journal of pediatric neurology regarding the manuscript "single-center experience with intrathecal administration of nusinersen in children with spinal muscular atrophy type 1" written by pechmann and colleagues".

Sansone VA, Pane M, Messina S, Bruno C, D'Amico A, Albamonte E, Catteruccia M, Sframeli M, Pedemonte M, Vita G, Bertini E, Mercuri E; Italian ISMAc Group.

Eur J Paediatr Neurol. 2018 Jul;22(4):729-731. doi: 10.1016/j.ejpn.2018.02.004. Epub 2018 Feb 19. No abstract available.

PMID:
29673809
47.

A V1143F mutation in the neuronal-enriched isoform 2 of the PMCA pump is linked with ataxia.

Vicario M, Zanni G, Vallese F, Santorelli F, Grinzato A, Cieri D, Berto P, Frizzarin M, Lopreiato R, Zonta F, Ferro S, Sandre M, Marin O, Ruzzene M, Bertini E, Zanotti G, Brini M, Calì T, Carafoli E.

Neurobiol Dis. 2018 Jul;115:157-166. doi: 10.1016/j.nbd.2018.04.009. Epub 2018 Apr 12.

PMID:
29655659
48.

Clinical and imaging hallmarks of the MYH7-related myopathy with severe axial involvement.

Dabaj I, Carlier RY, Gómez-Andrés D, Neto OA, Bertini E, D'amico A, Fattori F, PéRéon Y, Castiglioni C, Rodillo E, Catteruccia M, Guimarães JB, Oliveira ASB, Reed UC, Mesrob L, Lechner D, Boland A, Deleuze JF, Malfatti E, Bonnemann C, Laporte J, Romero N, Felter A, Quijano-Roy S, Moreno CAM, Zanoteli E.

Muscle Nerve. 2018 Aug;58(2):224-234. doi: 10.1002/mus.26137. Epub 2018 May 14.

PMID:
29624713
49.

Defective kinesin binding of TUBB2A causes progressive spastic ataxia syndrome resembling sacsinopathy.

Sferra A, Fattori F, Rizza T, Flex E, Bellacchio E, Bruselles A, Petrini S, Cecchetti S, Teson M, Restaldi F, Ciolfi A, Santorelli FM, Zanni G, Barresi S, Castiglioni C, Tartaglia M, Bertini E.

Hum Mol Genet. 2018 Jun 1;27(11):1892-1904. doi: 10.1093/hmg/ddy096.

PMID:
29547997
50.

Compound heterozygous missense and deep intronic variants in NDUFAF6 unraveled by exome sequencing and mRNA analysis.

Catania A, Ardissone A, Verrigni D, Legati A, Reyes A, Lamantea E, Diodato D, Tonduti D, Imperatore V, Pinto AM, Moroni I, Bertini E, Robinson A, Carrozzo R, Zeviani M, Ghezzi D.

J Hum Genet. 2018 May;63(5):563-568. doi: 10.1038/s10038-018-0423-1. Epub 2018 Mar 12.

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