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Items: 1 to 20 of 63

1.

Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment.

Salpietro V, Malintan NT, Llano-Rivas I, Spaeth CG, Efthymiou S, Striano P, Vandrovcova J, Cutrupi MC, Chimenz R, David E, Di Rosa G, Marce-Grau A, Raspall-Chaure M, Martin-Hernandez E, Zara F, Minetti C; Deciphering Developmental Disorders Study; SYNAPS Study Group, Bello OD, De Zorzi R, Fortuna S, Dauber A, Alkhawaja M, Sultan T, Mankad K, Vitobello A, Thomas Q, Mau-Them FT, Faivre L, Martinez-Azorin F, Prada CE, Macaya A, Kullmann DM, Rothman JE, Krishnakumar SS, Houlden H.

Am J Hum Genet. 2019 Apr 4;104(4):721-730. doi: 10.1016/j.ajhg.2019.02.016. Epub 2019 Mar 28.

2.

Pediatric neck masses: how clinical and radiological features can drive diagnosis.

Riva G, Sensini M, Peradotto F, Scolfaro C, Di Rosa G, Tavormina P.

Eur J Pediatr. 2019 Apr;178(4):463-471. doi: 10.1007/s00431-018-3305-9. Epub 2019 Jan 14.

PMID:
30643937
3.

Electroclinical history of a five-year-old girl with GRIN1-related early-onset epileptic encephalopathy: a video-case study.

Pironti E, Granata F, Cucinotta F, Gagliano A, Efthymiou S, Houlden H, Salpietro V, Di Rosa G.

Epileptic Disord. 2018 Oct 1;20(5):423-427. doi: 10.1684/epd.2018.0992.

PMID:
30355546
4.

8q22.1 Microduplication Syndrome: Why the Brain Should Be Spared? A Literature Review and a Case Report.

Gagliano A, Pironti E, Cucinotta F, Galati C, Maggio R, Alquino MA, Di Rosa G.

Case Rep Med. 2018 Jul 12;2018:3871425. doi: 10.1155/2018/3871425. eCollection 2018.

5.

A novel SLC1A4 homozygous mutation causing congenital microcephaly, epileptic encephalopathy and spastic tetraparesis: a video-EEG and tractography - case study.

Pironti E, Salpietro V, Cucinotta F, Granata F, Mormina E, Efthymiou S, Scuderi C, Gagliano A, Houlden H, Di Rosa G.

J Neurogenet. 2018 Dec;32(4):316-321. doi: 10.1080/01677063.2018.1476510. Epub 2018 Jul 10.

PMID:
29989513
6.

Inflammatory biomarkers and intellectual disability in patients with Down syndrome.

Manti S, Cutrupi MC, Cuppari C, Ferro E, Dipasquale V, Di Rosa G, Chimenz R, La Rosa MA, Valenti A, Salpietro V.

J Intellect Disabil Res. 2018 May;62(5):382-390. doi: 10.1111/jir.12470. Epub 2018 Jan 19.

PMID:
29349839
7.

Aripiprazole-induced Tardive Dyskinesia in 13 Years Old Girl Successfully Treated with Biperiden: A Case Report.

Lamberti M, Di Rosa G, Cucinotta F, Pironti E, Galati C, Gagliano A.

Clin Psychopharmacol Neurosci. 2017 Aug 31;15(3):285-287. doi: 10.9758/cpn.2017.15.3.285.

8.

Neuroimaging Changes in Menkes Disease, Part 1.

Manara R, D'Agata L, Rocco MC, Cusmai R, Freri E, Pinelli L, Darra F, Procopio E, Mardari R, Zanus C, Di Rosa G, Soddu C, Severino M, Ermani M, Longo D, Sartori S; Menkes Working Group in the Italian Neuroimaging Network for Rare Diseases.

AJNR Am J Neuroradiol. 2017 Oct;38(10):1850-1857. doi: 10.3174/ajnr.A5186. Epub 2017 May 11. Review.

9.

PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment.

Zollo M, Ahmed M, Ferrucci V, Salpietro V, Asadzadeh F, Carotenuto M, Maroofian R, Al-Amri A, Singh R, Scognamiglio I, Mojarrad M, Musella L, Duilio A, Di Somma A, Karaca E, Rajab A, Al-Khayat A, Mohan Mohapatra T, Eslahi A, Ashrafzadeh F, Rawlins LE, Prasad R, Gupta R, Kumari P, Srivastava M, Cozzolino F, Kumar Rai S, Monti M, Harlalka GV, Simpson MA, Rich P, Al-Salmi F, Patton MA, Chioza BA, Efthymiou S, Granata F, Di Rosa G, Wiethoff S, Borgione E, Scuderi C, Mankad K, Hanna MG, Pucci P, Houlden H, Lupski JR, Crosby AH, Baple EL.

Brain. 2017 Apr 1;140(4):940-952. doi: 10.1093/brain/awx014.

10.

Carbon Modular Orthosis (Ca.M.O.): An innovative hybrid modular ankle-foot orthosis to tune the variable rehabilitation needs in hemiplegic cerebral palsy.

Tavernese E, Petrarca M, Rosellini G, Di Stanislao E, Pisano A, Di Rosa G, Castelli E.

NeuroRehabilitation. 2017;40(3):447-457. doi: 10.3233/NRE-161432.

PMID:
28222565
11.

MRI and 18F-FDG-PET/CT in a rare case of early (precursor) B-lymphoblastic leukaemia with bone involvement as initial manifestation.

Cistaro A, La Delfa V, Di Rosa G, Cogoni M, Quartuccio N.

Nucl Med Rev Cent East Eur. 2017;20(1):57-59. doi: 10.5603/NMR.2017.0004.

12.

Predictivity of Clinical Findings and Doppler Ultrasound in Pediatric Acute Scrotum.

Lemini R, Guanà R, Tommasoni N, Mussa A, Di Rosa G, Schleef J.

Urol J. 2016 Aug 25;13(4):2779-83.

13.

Epilepsy in the setting of full trisomy 18: A multicenter study on 18 affected children with and without structural brain abnormalities.

Matricardi S, Spalice A, Salpietro V, Di Rosa G, Balistreri MC, Grosso S, Parisi P, Elia M, Striano P, Accorsi P, Cusmai R, Specchio N, Coppola G, Savasta S, Carotenuto M, Tozzi E, Ferrara P, Ruggieri M, Verrotti A.

Am J Med Genet C Semin Med Genet. 2016 Sep;172(3):288-95. doi: 10.1002/ajmg.c.31513. Epub 2016 Aug 13.

PMID:
27519909
14.

Conversation analysis in the differentiation of psychogenic nonepileptic and epileptic seizures in pediatric and adolescent settings.

Cornaggia CM, Di Rosa G, Polita M, Magaudda A, Perin C, Beghi M.

Epilepsy Behav. 2016 Sep;62:231-8. doi: 10.1016/j.yebeh.2016.07.006. Epub 2016 Aug 3.

PMID:
27494360
15.

Predictive role of early milestones-related psychomotor profiles and long-term neurodevelopmental pitfalls in preterm infants.

Di Rosa G, Cavallaro T, Alibrandi A, Marseglia L, Lamberti M, Giaimo E, Nicotera A, Bonsignore M, Gagliano A.

Early Hum Dev. 2016 Oct;101:49-55. doi: 10.1016/j.earlhumdev.2016.04.012. Epub 2016 Jul 9.

PMID:
27405056
16.

In response: Towards a quantitative assessment of psychogenic nonepileptic seizures.

Erba G, Beghi E, Magaudda A, Bianchi E, Giussani G, Di Rosa G, Laganà A, Chiesa V, Juersivich A, Langfitt J.

Epilepsia. 2016 Jun;57(6):1011-2. doi: 10.1111/epi.13401. No abstract available.

17.

Head-to-Head Comparison of Aripiprazole and Risperidone in the Treatment of ADHD Symptoms in Children with Autistic Spectrum Disorder and ADHD: A Pilot, Open-Label, Randomized Controlled Study.

Lamberti M, Siracusano R, Italiano D, Alosi N, Cucinotta F, Di Rosa G, Germanò E, Spina E, Gagliano A.

Paediatr Drugs. 2016 Aug;18(4):319-29. doi: 10.1007/s40272-016-0183-3.

PMID:
27278054
18.

Validation of a novel classification model of psychogenic nonepileptic seizures by video-EEG analysis and a machine learning approach.

Magaudda A, Laganà A, Calamuneri A, Brizzi T, Scalera C, Beghi M, Cornaggia CM, Di Rosa G.

Epilepsy Behav. 2016 Jul;60:197-201. doi: 10.1016/j.yebeh.2016.03.031. Epub 2016 May 20.

PMID:
27208925
19.

The semiology of psychogenic nonepileptic seizures revisited: Can video alone predict the diagnosis? Preliminary data from a prospective feasibility study.

Erba G, Giussani G, Juersivich A, Magaudda A, Chiesa V, Laganà A, Di Rosa G, Bianchi E, Langfitt J, Beghi E.

Epilepsia. 2016 May;57(5):777-85. doi: 10.1111/epi.13351. Epub 2016 Mar 7.

20.

PRIMARY NOCTURNAL ENURESIS IN CHILDREN WITH ALLERGIC RHINITIS AND SEVERE ADENOTONSILLAR HYPERTROPHY: A SINGLE CENTER PILOT STUDY.

Chimenz R, Manti S, Fede C, Stroscio G, Visalli C, Nicotera A, Di Rosa G, Romeo AC, Salpietro V, Cuppari C.

J Biol Regul Homeost Agents. 2015 Apr-Jun;29(2 Suppl 1):73-9.

PMID:
26634591

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