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Items: 1 to 50 of 184

1.

Novel compound heterozygous pathogenic variants in nucleotide-binding protein like protein (NUBPL) cause leukoencephalopathy with multi-systemic involvement.

Protasoni M, Bruno C, Donati MA, Mohamoud K, Severino M, Allegri A, Robinson AJ, Reyes A, Zeviani M, Garone C.

Mol Genet Metab. 2020 Jan;129(1):26-34. doi: 10.1016/j.ymgme.2019.11.003. Epub 2019 Nov 21.

PMID:
31787496
2.

Measuring subthreshold autistic traits in the general population: Psychometric properties of the Adult Autism Subthreshold Spectrum (AdAS Spectrum) scale.

Donati MA, Berrocal C, Primi C, Petracchi G, Carpita B, Cosci F, Ruiz A, Carmassi C, Dell'Osso L.

Psychiatry Res. 2019 Nov;281:112576. doi: 10.1016/j.psychres.2019.112576. Epub 2019 Sep 23.

PMID:
31586834
3.

Next-generation sequencing approach to hyperCKemia: A 2-year cohort study.

Rubegni A, Malandrini A, Dosi C, Astrea G, Baldacci J, Battisti C, Bertocci G, Donati MA, Dotti MT, Federico A, Giannini F, Grosso S, Guerrini R, Lenzi S, Maioli MA, Melani F, Mercuri E, Sacchini M, Salvatore S, Siciliano G, Tolomeo D, Tonin P, Volpi N, Santorelli FM, Cassandrini D.

Neurol Genet. 2019 Aug 16;5(5):e352. doi: 10.1212/NXG.0000000000000352. eCollection 2019 Oct.

4.

Impulse control disorders in Parkinson's disease versus in healthy controls: A different predictive model.

Izzo VA, Donati MA, Torre E, Ramat S, Primi C.

J Neuropsychol. 2019 Aug 18. doi: 10.1111/jnp.12193. [Epub ahead of print]

PMID:
31423741
5.

Using the Short Form of the MSBS to Assess State Boredom Among Adolescents: Psychometric Evidence by Applying Item Response Theory.

Donati MA, Borace E, Franchi E, Primi C.

Assessment. 2019 Jul 25:1073191119864655. doi: 10.1177/1073191119864655. [Epub ahead of print]

PMID:
31342785
6.

Correction to: Newborn screening in mucopolysaccharidoses.

Donati MA, Pasquini E, Spada M, Polo G, Burlina A.

Ital J Pediatr. 2019 Jun 11;45(1):71. doi: 10.1186/s13052-019-0665-3.

7.

Impulse control disorders in Parkinson's disease: A systematic review on the psychometric properties of the existing measures.

Izzo VA, Donati MA, Ramat S, Primi C.

PLoS One. 2019 Jun 4;14(6):e0217700. doi: 10.1371/journal.pone.0217700. eCollection 2019.

8.

Deoxynucleoside Therapy for Thymidine Kinase 2-Deficient Myopathy.

Domínguez-González C, Madruga-Garrido M, Mavillard F, Garone C, Aguirre-Rodríguez FJ, Donati MA, Kleinsteuber K, Martí I, Martín-Hernández E, Morealejo-Aycinena JP, Munell F, Nascimento A, Kalko SG, Sardina MD, Álvarez Del Vayo C, Serrano O, Long Y, Tu Y, Levin B, Thompson JLP, Engelstad K, Uddin J, Torres-Torronteras J, Jimenez-Mallebrera C, Martí R, Paradas C, Hirano M.

Ann Neurol. 2019 Aug;86(2):293-303. doi: 10.1002/ana.25506. Epub 2019 Jun 17.

PMID:
31125140
9.

The Conners 3-short forms: Evaluating the adequacy of brief versions to assess ADHD symptoms and related problems.

Izzo VA, Donati MA, Novello F, Maschietto D, Primi C.

Clin Child Psychol Psychiatry. 2019 Oct;24(4):791-808. doi: 10.1177/1359104519846602. Epub 2019 May 10.

PMID:
31074289
10.

Targeting a Pre-existing Anti-transgene T Cell Response for Effective Gene Therapy of MPS-I in the Mouse Model of the Disease.

Squeri G, Passerini L, Ferro F, Laudisa C, Tomasoni D, Deodato F, Donati MA, Gasperini S, Aiuti A, Bernardo ME, Gentner B, Naldini L, Annoni A, Biffi A, Gregori S.

Mol Ther. 2019 Jul 3;27(7):1215-1227. doi: 10.1016/j.ymthe.2019.04.014. Epub 2019 Apr 19.

11.

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 PE, Bratkovic D, Carrozzo R, Donati MA, Di Nottia M, 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 Oct;40(10):1731-1748. doi: 10.1002/humu.23777. Epub 2019 Jun 18.

PMID:
31045291
12.

Measuring Test Anxiety With an Invariant Measure Across Genders: The Case of the German Test Anxiety Inventory.

Donati MA, Izzo VA, Scabia A, Boncompagni J, Primi C.

Psychol Rep. 2019 Apr 24:33294119843224. doi: 10.1177/0033294119843224. [Epub ahead of print]

PMID:
31018766
13.

Assessing the Role of Anti rh-GAA in Modulating Response to ERT in a Late-Onset Pompe Disease Cohort from the Italian GSDII Study Group.

Filosto M, Cotti Piccinelli S, Ravaglia S, Servidei S, Moggio M, Musumeci O, Donati MA, Pegoraro E, Di Muzio A, Maggi L, Tonin P, Marrosu G, Sancricca C, Lerario A, Sacchini M, Semplicini C, Bozzoni V, Telese R, Bonanno S, Piras R, Maioli MA, Ricci G, Vercelli L, Galvagni A, Gallo Cassarino S, Caria F, Mongini T, Siciliano G, Padovani A, Toscano A.

Adv Ther. 2019 May;36(5):1177-1189. doi: 10.1007/s12325-019-00926-5. Epub 2019 Mar 16.

PMID:
30879255
14.

Clinical and neuroimaging features of the m.10197G>A mtDNA mutation: New case reports and expansion of the phenotype variability.

Tolomeo D, Rubegni A, Severino M, Pochiero F, Bruno C, Cassandrini D, Madeo A, Doccini S, Pedemonte M, Rossi A, D'Amore F, Donati MA, Di Rocco M, Santorelli FM, Nesti C.

J Neurol Sci. 2019 Apr 15;399:69-75. doi: 10.1016/j.jns.2019.02.010. Epub 2019 Feb 6.

PMID:
30776730
15.

Comment on: Assessment of cardiac disease in MELAS requires comprehensive, prospective work-up.

Brambilla A, Olivotto I, Favilli S, Donati MA.

Int J Cardiol. 2019 Apr 1;280:162. doi: 10.1016/j.ijcard.2019.01.031. No abstract available.

PMID:
30771884
16.

Autophagic vacuolar myopathy caused by a CLN3 mutation. A case report.

Moro F, Rubegni A, Pochiero F, Mero S, Procopio E, Baldacci J, Donati MA, Santorelli FM.

Neuromuscul Disord. 2019 Jan;29(1):67-69. doi: 10.1016/j.nmd.2018.11.006. Epub 2018 Nov 22.

PMID:
30553701
17.

Assessing ADHD Through the Multi-Informant Approach: The Contribution of the Conners' 3 Scales.

Izzo VA, Donati MA, Primi C.

J Atten Disord. 2019 Apr;23(6):641-650. doi: 10.1177/1087054718815581. Epub 2018 Dec 6.

PMID:
30520665
18.

Clinical profile and outcome of cardiac involvement in MELAS syndrome.

Brambilla A, Favilli S, Olivotto I, Calabri GB, Porcedda G, De Simone L, Procopio E, Pasquini E, Donati MA.

Int J Cardiol. 2019 Feb 1;276:14-19. doi: 10.1016/j.ijcard.2018.10.051. Epub 2018 Oct 23.

PMID:
30482630
19.

Newborn screening in mucopolysaccharidoses.

Donati MA, Pasquini E, Spada M, Polo G, Burlina A.

Ital J Pediatr. 2018 Nov 16;44(Suppl 2):126. doi: 10.1186/s13052-018-0552-3. Review. Erratum in: Ital J Pediatr. 2019 Jun 11;45(1):71.

20.

Favorable course of previously undiagnosed Methylmalonic Aciduria with Homocystinuria (cblC type) presenting with pulmonary hypertension and aHUS in a young child: a case report.

De Simone L, Capirchio L, Roperto RM, Romagnani P, Sacchini M, Donati MA, de Martino M.

Ital J Pediatr. 2018 Aug 13;44(1):90. doi: 10.1186/s13052-018-0530-9.

21.

The Effectiveness of the Game of Dice Task in Predicting At-Risk and Problem Gambling Among Adolescents: The Contribution of the Neural Networks.

Donati MA, Frosini A, Izzo VA, Primi C.

J Gambl Stud. 2019 Mar;35(1):1-14. doi: 10.1007/s10899-018-9796-5.

PMID:
30047067
22.

Effect of carglumic acid with or without ammonia scavengers on hyperammonaemia in acute decompensation episodes of organic acidurias.

Chakrapani A, Valayannopoulos V, Segarra NG, Del Toro M, Donati MA, García-Cazorla A, González MJ, Plisson C, Giordano V.

Orphanet J Rare Dis. 2018 Jun 20;13(1):97. doi: 10.1186/s13023-018-0840-4.

23.

Time Perspectives and Gambling in Adolescent Boys: Differential Effects of Present- and Future-Orientation.

Donati MA, Sottili E, Morsanyi K, Primi C.

J Gambl Stud. 2019 Mar;35(1):107-124. doi: 10.1007/s10899-018-9780-0.

PMID:
29868999
24.

Retrospective natural history of thymidine kinase 2 deficiency.

Garone C, Taylor RW, Nascimento A, Poulton J, Fratter C, Domínguez-González C, Evans JC, Loos M, Isohanni P, Suomalainen A, Ram D, Hughes MI, McFarland R, Barca E, Lopez Gomez C, Jayawant S, Thomas ND, Manzur AY, Kleinsteuber K, Martin MA, Kerr T, Gorman GS, Sommerville EW, Chinnery PF, Hofer M, Karch C, Ralph J, Cámara Y, Madruga-Garrido M, Domínguez-Carral J, Ortez C, Emperador S, Montoya J, Chakrapani A, Kriger JF, Schoenaker R, Levin B, Thompson JLP, Long Y, Rahman S, Donati MA, DiMauro S, Hirano M.

J Med Genet. 2018 Aug;55(8):515-521. doi: 10.1136/jmedgenet-2017-105012. Epub 2018 Mar 30.

25.

Conners 3-Self-Report Scale: An empirical support to the dimensionality of the content scales.

Izzo VA, Donati MA, Primi C.

Clin Child Psychol Psychiatry. 2018 Oct;23(4):556-566. doi: 10.1177/1359104518757289. Epub 2018 Feb 15.

PMID:
29446323
26.

Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy.

Parini R, De Lorenzo P, Dardis A, Burlina A, Cassio A, Cavarzere P, Concolino D, Della Casa R, Deodato F, Donati MA, Fiumara A, Gasperini S, Menni F, Pagliardini V, Sacchini M, Spada M, Taurisano R, Valsecchi MG, Di Rocco M, Bembi B.

Orphanet J Rare Dis. 2018 Feb 8;13(1):32. doi: 10.1186/s13023-018-0771-0.

27.

Late-Onset N-Acetylglutamate Synthase Deficiency: Report of a Paradigmatic Adult Case Presenting with Headaches and Review of the Literature.

Cavicchi C, Chilleri C, Fioravanti A, Ferri L, Ripandelli F, Costa C, Calabresi P, Prontera P, Pochiero F, Pasquini E, Funghini S, la Marca G, Donati MA, Morrone A.

Int J Mol Sci. 2018 Jan 24;19(2). pii: E345. doi: 10.3390/ijms19020345. Review.

28.

Gambling-Related Distortions and Problem Gambling in Adolescents: A Model to Explain Mechanisms and Develop Interventions.

Donati MA, Chiesi F, Iozzi A, Manfredi A, Fagni F, Primi C.

Front Psychol. 2018 Jan 5;8:2243. doi: 10.3389/fpsyg.2017.02243. eCollection 2017.

29.

Recurrent Burning Limb Pain Diagnosed as Psychiatric Disorder in Adolescence: A Case of True Neuro-Metabolic Disease.

Trapani S, Montemaggi A, Dini E, Pozzessere A, Donati MA, Resti M.

Pain Med. 2018 Aug 1;19(8):1696-1697. doi: 10.1093/pm/pnx323. No abstract available.

PMID:
29301004
30.

SLC25A10 biallelic mutations in intractable epileptic encephalopathy with complex I deficiency.

Punzi G, Porcelli V, Ruggiu M, Hossain MF, Menga A, Scarcia P, Castegna A, Gorgoglione R, Pierri CL, Laera L, Lasorsa FM, Paradies E, Pisano I, Marobbio CMT, Lamantea E, Ghezzi D, Tiranti V, Giannattasio S, Donati MA, Guerrini R, Palmieri L, Palmieri F, De Grassi A.

Hum Mol Genet. 2018 Feb 1;27(3):499-504. doi: 10.1093/hmg/ddx419.

31.

Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome.

Garone C, D'Souza AR, Dallabona C, Lodi T, Rebelo-Guiomar P, Rorbach J, Donati MA, Procopio E, Montomoli M, Guerrini R, Zeviani M, Calvo SE, Mootha VK, DiMauro S, Ferrero I, Minczuk M.

Hum Mol Genet. 2017 Nov 1;26(21):4257-4266. doi: 10.1093/hmg/ddx314.

32.

Home infusion program with enzyme replacement therapy for Fabry disease: The experience of a large Italian collaborative group.

Concolino D, Amico L, Cappellini MD, Cassinerio E, Conti M, Donati MA, Falvo F, Fiumara A, Maccarone M, Manna R, Matucci A, Musumeci MB, Nicoletti A, Nisticò R, Papadia F, Parini R, Peluso D, Pensabene L, Pisani A, Pistone G, Rigoldi M, Romani I, Tenuta M, Torti G, Veroux M, Zachara E.

Mol Genet Metab Rep. 2017 Jun 22;12:85-91. doi: 10.1016/j.ymgmr.2017.06.005. eCollection 2017 Sep.

33.

A rare case of sterol-C4-methyl oxidase deficiency in a young Italian male: Biochemical and molecular characterization.

Frisso G, Gelzo M, Procopio E, Sica C, Lenza MP, Dello Russo A, Donati MA, Salvatore F, Corso G.

Mol Genet Metab. 2017 Aug;121(4):329-335. doi: 10.1016/j.ymgme.2017.06.013. Epub 2017 Jun 27.

PMID:
28673550
34.

SSADH deficiency in an Italian family: a novel ALDH5A1 gene mutation affecting the succinic semialdehyde substrate binding site.

Leo S, Capo C, Ciminelli BM, Iacovelli F, Menduti G, Funghini S, Donati MA, Falconi M, Rossi L, Malaspina P.

Metab Brain Dis. 2017 Oct;32(5):1383-1388. doi: 10.1007/s11011-017-0058-5. Epub 2017 Jun 29.

PMID:
28664505
35.

Gender Invariance of the Gambling Behavior Scale for Adolescents (GBS-A): An Analysis of Differential Item Functioning Using Item Response Theory.

Donati MA, Chiesi F, Izzo VA, Primi C.

Front Psychol. 2017 Jun 6;8:940. doi: 10.3389/fpsyg.2017.00940. eCollection 2017.

36.

The treatment of juvenile/adult GM1-gangliosidosis with Miglustat may reverse disease progression.

Deodato F, Procopio E, Rampazzo A, Taurisano R, Donati MA, Dionisi-Vici C, Caciotti A, Morrone A, Scarpa M.

Metab Brain Dis. 2017 Oct;32(5):1529-1536. doi: 10.1007/s11011-017-0044-y. Epub 2017 Jun 3.

PMID:
28577204
37.

A Child With Ichthyosis and Liver Failure.

Indolfi G, Iascone M, Remaschi G, Donati MA, Nesti C, Rubegni A, Pezzoli L, Buccoliero AM, Santorelli FM, Resti M.

J Pediatr Gastroenterol Nutr. 2017 Sep;65(3):e70-e73. doi: 10.1097/MPG.0000000000001645. No abstract available.

PMID:
28562522
38.

What About the Different Shortened Versions of the Mindful Attention Awareness Scale?

Chiesi F, Donati MA, Panno A, Giacomantonio M, Primi C.

Psychol Rep. 2017 Jan 1:33294117711132. doi: 10.1177/0033294117711132. [Epub ahead of print]

PMID:
28558549
39.

Optical coherence tomography morphology and evolution in cblC disease-related maculopathy in a case series of very young patients.

Bacci GM, Donati MA, Pasquini E, Munier F, Cavicchi C, Morrone A, Sodi A, Murro V, Garcia Segarra N, Defilippi C, Bussolin L, Caputo R.

Acta Ophthalmol. 2017 Dec;95(8):e776-e782. doi: 10.1111/aos.13441. Epub 2017 May 8.

40.

Muscle MRI of classic infantile pompe patients: Fatty substitution and edema-like changes.

Pichiecchio A, Rossi M, Cinnante C, Colafati GS, De Icco R, Parini R, Menni F, Furlan F, Burlina A, Sacchini M, Donati MA, Fecarotta S, Casa RD, Deodato F, Taurisano R, Di Rocco M.

Muscle Nerve. 2017 Jun;55(6):841-848. doi: 10.1002/mus.25417. Epub 2017 Feb 9.

PMID:
27668838
41.

Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes.

Harel T, Yoon WH, Garone C, Gu S, Coban-Akdemir Z, Eldomery MK, Posey JE, Jhangiani SN, Rosenfeld JA, Cho MT, Fox S, Withers M, Brooks SM, Chiang T, Duraine L, Erdin S, Yuan B, Shao Y, Moussallem E, Lamperti C, Donati MA, Smith JD, McLaughlin HM, Eng CM, Walkiewicz M, Xia F, Pippucci T, Magini P, Seri M, Zeviani M, Hirano M, Hunter JV, Srour M, Zanigni S, Lewis RA, Muzny DM, Lotze TE, Boerwinkle E; Baylor-Hopkins Center for Mendelian Genomics; University of Washington Center for Mendelian Genomics, Gibbs RA, Hickey SE, Graham BH, Yang Y, Buhas D, Martin DM, Potocki L, Graziano C, Bellen HJ, Lupski JR.

Am J Hum Genet. 2016 Oct 6;99(4):831-845. doi: 10.1016/j.ajhg.2016.08.007. Epub 2016 Sep 15.

42.

Clinical relevance of short-chain acyl-CoA dehydrogenase (SCAD) deficiency: Exploring the role of new variants including the first SCAD-disease-causing allele carrying a synonymous mutation.

Tonin R, Caciotti A, Funghini S, Pasquini E, Mooney SD, Cai B, Proncopio E, Donati MA, Baronio F, Bettocchi I, Cassio A, Biasucci G, Bordugo A, la Marca G, Guerrini R, Morrone A.

BBA Clin. 2016 Mar 10;5:114-9. doi: 10.1016/j.bbacli.2016.03.004. eCollection 2016 Jun.

43.

Carglumic acid enhances rapid ammonia detoxification in classical organic acidurias with a favourable risk-benefit profile: a retrospective observational study.

Valayannopoulos V, Baruteau J, Delgado MB, Cano A, Couce ML, Del Toro M, Donati MA, Garcia-Cazorla A, Gil-Ortega D, Gomez-de Quero P, Guffon N, Hofstede FC, Kalkan-Ucar S, Coker M, Lama-More R, Martinez-Pardo Casanova M, Molina A, Pichard S, Papadia F, Rosello P, Plisson C, Le Mouhaer J, Chakrapani A.

Orphanet J Rare Dis. 2016 Mar 31;11:32. doi: 10.1186/s13023-016-0406-2.

44.

Timed Rise from Floor as a Predictor of Disease Progression in Duchenne Muscular Dystrophy: An Observational Study.

Mazzone ES, Coratti G, Sormani MP, Messina S, Pane M, D'Amico A, Colia G, Fanelli L, Berardinelli A, Gardani A, Lanzillotta V, D'Ambrosio P, Petillo R, Cavallaro F, Frosini S, Bello L, Bonfiglio S, De Sanctis R, Rolle E, Forcina N, Magri F, Vita G, Palermo C, Donati MA, Procopio E, Arnoldi MT, Baranello G, Mongini T, Pini A, Battini R, Pegoraro E, Torrente Y, Previtali SC, Bruno C, Politano L, Comi GP, D'Angelo MG, Bertini E, Mercuri E.

PLoS One. 2016 Mar 16;11(3):e0151445. doi: 10.1371/journal.pone.0151445. eCollection 2016.

45.

Correction: Long Term Natural History Data in Ambulant Boys with Duchenne Muscular Dystrophy: 36-Month Changes.

Pane M, Mazzone ES, Sivo S, Sormani MP, Messina S, D'Amico A, Carlesi A, Vita G, Fanelli L, Berardinelli A, Torrente Y, Lanzillotta V, Viggiano E, D'Ambrosio P, Cavallaro F, Frosini S, Barp A, Bonfiglio S, Scalise R, De Sanctis R, Rolle E, Graziano A, Magri F, Palermo C, Rossi F, Donati MA, Sacchini M, Arnoldi MT, Baranello G, Mongini T, Pini A, Battini R, Pegoraro E, Previtali S, Bruno C, Politano L, Comi GP, Bertini E, Mercuri E.

PLoS One. 2015 Dec 4;10(12):e0144079. doi: 10.1371/journal.pone.0144079. eCollection 2015. No abstract available.

46.

Erratum to: Redefining phenotypes associated with mitochondrial DNA single deletion.

Mancuso M, Orsucci D, Angelini C, Bertini E, Carelli V, Comi GP, Donati MA, Federico A, Minetti C, Moggio M, Mongini T, Santorelli FM, Servidei S, Tonin P, Toscano A, Bruno C, Bello L, Ienco EC, Cardaioli E, Catteruccia M, Da Pozzo P, Filosto M, Lamperti C, Moroni I, Musumeci O, Pegoraro E, Ronchi D, Sauchelli D, Scarpelli M, Sciacco M, Valentino ML, Vercelli L, Zeviani M, Siciliano G.

J Neurol. 2015 Dec;262(12):2800. doi: 10.1007/s00415-015-7943-9. No abstract available.

PMID:
26566910
47.

De novo Diagnosis of Fabry Disease among Italian Adults with Acute Ischemic Stroke or Transient Ischemic Attack.

Romani I, Borsini W, Nencini P, Morrone A, Ferri L, Frusconi S, Donadio VA, Liguori R, Donati MA, Falconi S, Pracucci G, Inzitari D.

J Stroke Cerebrovasc Dis. 2015 Nov;24(11):2588-95. doi: 10.1016/j.jstrokecerebrovasdis.2015.07.012. Epub 2015 Aug 19.

PMID:
26298600
48.

ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism.

Panza E, Escamilla-Honrubia JM, Marco-Marín C, Gougeard N, De Michele G, Morra VB, Liguori R, Salviati L, Donati MA, Cusano R, Pippucci T, Ravazzolo R, Németh AH, Smithson S, Davies S, Hurst JA, Bordo D, Rubio V, Seri M.

Brain. 2016 Jan;139(Pt 1):e3. doi: 10.1093/brain/awv247. Epub 2015 Aug 21. No abstract available.

PMID:
26297558
49.

Redefining phenotypes associated with mitochondrial DNA single deletion.

Mancuso M, Orsucci D, Angelini C, Bertini E, Carelli V, Comi GP, Donati MA, Federico A, Minetti C, Moggio M, Mongini T, Santorelli FM, Servidei S, Tonin P, Toscano A, Bruno C, Bello L, Caldarazzo Ienco E, Cardaioli E, Catteruccia M, Da Pozzo P, Filosto M, Lamperti C, Moroni I, Musumeci O, Pegoraro E, Ronchi D, Sauchelli D, Scarpelli M, Sciacco M, Valentino ML, Vercelli L, Zeviani M, Siciliano G.

J Neurol. 2015 May;262(5):1301-9. doi: 10.1007/s00415-015-7710-y. Epub 2015 Mar 26. Erratum in: J Neurol. 2015 Dec;262(12):2800.

PMID:
25808502
50.

Intra-individual plasticity of the TAZ gene leading to different heritable mutations in siblings with Barth syndrome.

Ferri L, Donati MA, Funghini S, Cavicchi C, Pensato V, Gellera C, Natacci F, Spaccini L, Gasperini S, Vaz FM, Cooper DN, Guerrini R, Morrone A.

Eur J Hum Genet. 2015 Dec;23(12):1708-12. doi: 10.1038/ejhg.2015.50. Epub 2015 Mar 18.

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