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Items: 1 to 20 of 30

1.

Hereditary spastic paraplegia is a novel phenotype for germline de novo ATP1A1 mutation.

Stregapede F, Travaglini L, Rebelo AP, Cintra VP, Bellacchio E, Bosco L, Alfieri P, Pro S, Zuchner S, Bertini E, Nicita F.

Clin Genet. 2019 Nov 8. doi: 10.1111/cge.13668. [Epub ahead of print]

PMID:
31705535
2.

Obsessive Compulsive Symptoms and Psychopathological Profile in Children and Adolescents with KBG syndrome.

Alfieri P, Demaria F, Licchelli S, Santonastaso O, Caciolo C, Digilio MC, Sinibaldi L, Leoni C, Gnazzo M, Tartaglia M, Pasqualetti P, Vicari S.

Brain Sci. 2019 Nov 7;9(11). pii: E313. doi: 10.3390/brainsci9110313.

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 Aug;96(2):169-175. doi: 10.1111/cge.13562. Epub 2019 Jun 5.

PMID:
31066025
4.

The relationship between deficit in digit span and genotype in nonsense mutation Duchenne muscular dystrophy.

Thangarajh M, Elfring GL, Trifillis P, McIntosh J, Peltz SW; Ataluren Phase 2b Study Group.

Neurology. 2018 Sep 25;91(13):e1215-e1219. doi: 10.1212/WNL.0000000000006245. Epub 2018 Aug 22.

5.

Neurobehavioral features in individuals with Kabuki syndrome.

Caciolo C, Alfieri P, Piccini G, Digilio MC, Lepri FR, Tartaglia M, Menghini D, Vicari S.

Mol Genet Genomic Med. 2018 May;6(3):322-331. doi: 10.1002/mgg3.348. Epub 2018 Mar 13.

6.

Implicit learning deficit in children with Duchenne muscular dystrophy: Evidence for a cerebellar cognitive impairment?

Vicari S, Piccini G, Mercuri E, Battini R, Chieffo D, Bulgheroni S, Pecini C, Lucibello S, Lenzi S, Moriconi F, Pane M, D'Amico A, Astrea G, Baranello G, Riva D, Cioni G, Alfieri P.

PLoS One. 2018 Jan 16;13(1):e0191164. doi: 10.1371/journal.pone.0191164. eCollection 2018.

7.

Clinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of Literature.

Lepri FR, Cocciadiferro D, Augello B, Alfieri P, Pes V, Vancini A, Caciolo C, Squeo GM, Malerba N, Adipietro I, Novelli A, Sotgiu S, Gherardi R, Digilio MC, Dallapiccola B, Merla G.

Int J Mol Sci. 2017 Dec 28;19(1). pii: E82. doi: 10.3390/ijms19010082.

8.

Learning by observation and learning by doing in Down and Williams syndromes.

Foti F, Menghini D, Alfieri P, Costanzo F, Mandolesi L, Petrosini L, Vicari S.

Dev Sci. 2018 Sep;21(5):e12642. doi: 10.1111/desc.12642. Epub 2017 Dec 26.

PMID:
29280247
9.

Psychopathological features in Noonan syndrome.

Perrino F, Licchelli S, Serra G, Piccini G, Caciolo C, Pasqualetti P, Cirillo F, Leoni C, Digilio MC, Zampino G, Tartaglia M, Alfieri P, Vicari S.

Eur J Paediatr Neurol. 2018 Jan;22(1):170-177. doi: 10.1016/j.ejpn.2017.09.009. Epub 2017 Sep 28.

PMID:
29037749
10.

Identification of novel and hotspot mutations in the channel domain of ITPR1 in two patients with Gillespie syndrome.

Dentici ML, Barresi S, Nardella M, Bellacchio E, Alfieri P, Bruselles A, Pantaleoni F, Danieli A, Iarossi G, Cappa M, Bertini E, Tartaglia M, Zanni G.

Gene. 2017 Sep 10;628:141-145. doi: 10.1016/j.gene.2017.07.017. Epub 2017 Jul 8.

11.

Cognitive, adaptive, and behavioral features in Joubert syndrome.

Bulgheroni S, D'Arrigo S, Signorini S, Briguglio M, Di Sabato ML, Casarano M, Mancini F, Romani M, Alfieri P, Battini R, Zoppello M, Tortorella G, Bertini E, Leuzzi V, Valente EM, Riva D.

Am J Med Genet A. 2016 Dec;170(12):3115-3124. doi: 10.1002/ajmg.a.37938. Epub 2016 Aug 17.

PMID:
27530364
12.

Rho Kinase Inhibition Is Essential During In Vitro Neurogenesis and Promotes Phenotypic Rescue of Human Induced Pluripotent Stem Cell-Derived Neurons With Oligophrenin-1 Loss of Function.

Compagnucci C, Barresi S, Petrini S, Billuart P, Piccini G, Chiurazzi P, Alfieri P, Bertini E, Zanni G.

Stem Cells Transl Med. 2016 Jul;5(7):860-9. doi: 10.5966/sctm.2015-0303. Epub 2016 May 9.

13.

A Novel Mutation in RPL10 (Ribosomal Protein L10) Causes X-Linked Intellectual Disability, Cerebellar Hypoplasia, and Spondylo-Epiphyseal Dysplasia.

Zanni G, Kalscheuer VM, Friedrich A, Barresi S, Alfieri P, Di Capua M, Haas SA, Piccini G, Karl T, Klauck SM, Bellacchio E, Emma F, Cappa M, Bertini E, Breitenbach-Koller L.

Hum Mutat. 2015 Dec;36(12):1155-8. doi: 10.1002/humu.22860. Epub 2015 Sep 14.

PMID:
26290468
14.

Early Neurodevelopmental Findings Predict School Age Cognitive Abilities in Duchenne Muscular Dystrophy: A Longitudinal Study.

Chieffo D, Brogna C, Berardinelli A, D'Angelo G, Mallardi M, D'Amico A, Alfieri P, Mercuri E, Pane M.

PLoS One. 2015 Aug 14;10(8):e0133214. doi: 10.1371/journal.pone.0133214. eCollection 2015.

15.

The use of actigraphy in the monitoring of sleep and activity in ADHD: A meta-analysis.

De Crescenzo F, Licchelli S, Ciabattini M, Menghini D, Armando M, Alfieri P, Mazzone L, Pontrelli G, Livadiotti S, Foti F, Quested D, Vicari S.

Sleep Med Rev. 2016 Apr;26:9-20. doi: 10.1016/j.smrv.2015.04.002. Epub 2015 Apr 23. Review.

PMID:
26163053
16.

Developmental lag of visuospatial attention in Duchenne muscular dystrophy.

Piccini G, Gazzellini S, D'Amico A, Pane M, Castelli E, Vicari S, Alfieri P.

Res Dev Disabil. 2015 Jan;36C:55-61. doi: 10.1016/j.ridd.2014.09.021. Epub 2014 Oct 14.

PMID:
25462465
17.

Behavioral phenotype in Costello syndrome with atypical mutation: a case report.

Alfieri P, Caciolo C, Piccini G, D'Elia L, Valeri G, Menghini D, Tartaglia M, Digilio MC, Dallapiccola B, Vicari S.

Am J Med Genet B Neuropsychiatr Genet. 2015 Jan;168B(1):66-71. doi: 10.1002/ajmg.b.32279. Epub 2014 Nov 4.

PMID:
25367099
18.

Behavioral profile in RASopathies.

Alfieri P, Piccini G, Caciolo C, Perrino F, Gambardella ML, Mallardi M, Cesarini L, Leoni C, Leone D, Fossati C, Selicorni A, Digilio MC, Tartaglia M, Mercuri E, Zampino G, Vicari S.

Am J Med Genet A. 2014 Apr;164A(4):934-42. doi: 10.1002/ajmg.a.36374. Epub 2014 Jan 23.

PMID:
24458522
19.

Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits.

Fusco C, Micale L, Augello B, Teresa Pellico M, Menghini D, Alfieri P, Cristina Digilio M, Mandriani B, Carella M, Palumbo O, Vicari S, Merla G.

Eur J Hum Genet. 2014 Jan;22(1):64-70. doi: 10.1038/ejhg.2013.101. Epub 2013 Jun 12.

20.

Early neurodevelopmental assessment in Duchenne muscular dystrophy.

Pane M, Scalise R, Berardinelli A, D'Angelo G, Ricotti V, Alfieri P, Moroni I, Hartley L, Pera MC, Baranello G, Catteruccia M, Casalino T, Romeo DM, Graziano A, Gandioli C, Bianco F, Mazzone ES, Lombardo ME, Scoto M, Sivo S, Palermo C, Gualandi F, Sormani MP, Ferlini A, Bertini E, Muntoni F, Mercuri E.

Neuromuscul Disord. 2013 Jun;23(6):451-5. doi: 10.1016/j.nmd.2013.02.012. Epub 2013 Mar 25.

PMID:
23535446

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