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Page 1
Defining language disorders in children and adolescents with Noonan Syndrome.
Lazzaro G, Caciolo C, Menghini D, Cumbo F, Digilio MC, Capolino R, Zampino G, Tartaglia M, Vicari S, Alfieri P. Lazzaro G, et al. Among authors: cumbo f. Mol Genet Genomic Med. 2020 Apr;8(4):e1069. doi: 10.1002/mgg3.1069. Epub 2020 Feb 14. Mol Genet Genomic Med. 2020. PMID: 32059087 Free PMC article.
Two new cases of nonepileptic neurodevelopmental disorder due to GRIN2B variants and detailed clinical description of the behavioral phenotype.
Buonuomo PS, Mastrogiorgio G, Alfieri P, Terracciano A, Cesario C, Rana I, Macchiaiolo M, Veronika Gonfiantini M, Vecchio D, Cristina Digilio M, Lisa Dentici M, Cumbo F, Novelli A, Bartuli A. Buonuomo PS, et al. Among authors: cumbo f. Clin Dysmorphol. 2022 Apr 1;31(2):74-78. doi: 10.1097/MCD.0000000000000408. Clin Dysmorphol. 2022. PMID: 35238837 No abstract available.
Characterization of Cognitive, Language and Adaptive Profiles of Children and Adolescents with Malan Syndrome.
Alfieri P, Macchiaiolo M, Collotta M, Montanaro FAM, Caciolo C, Cumbo F, Galassi P, Panfili FM, Cortellessa F, Zollino M, Accadia M, Seri M, Tartaglia M, Bartuli A, Mammì C, Vicari S, Priolo M. Alfieri P, et al. Among authors: cumbo f. J Clin Med. 2022 Jul 14;11(14):4078. doi: 10.3390/jcm11144078. J Clin Med. 2022. PMID: 35887841 Free PMC article.
7q11.23 Microduplication Syndrome: Clinical and Neurobehavioral Profiling.
Dentici ML, Bergonzini P, Scibelli F, Caciolo C, De Rose P, Cumbo F, Alesi V, Capolino R, Zanni G, Sinibaldi L, Novelli A, Tartaglia M, Digilio MC, Dallapiccola B, Vicari S, Alfieri P. Dentici ML, et al. Among authors: cumbo f. Brain Sci. 2020 Nov 11;10(11):839. doi: 10.3390/brainsci10110839. Brain Sci. 2020. PMID: 33187326 Free PMC article.
Longitudinal data of neuropsychological profile in a cohort of Duchenne muscular dystrophy boys without cognitive impairment.
Battini R, Lenzi S, Lucibello S, Chieffo D, Moriconi F, Cristofani P, Bulgheroni S, Cumbo F, Pane M, Baranello G, Alfieri P, Astrea G, Cioni G, Vicari S, Mercuri E. Battini R, et al. Among authors: cumbo f. Neuromuscul Disord. 2021 Apr;31(4):319-327. doi: 10.1016/j.nmd.2021.01.011. Epub 2021 Feb 4. Neuromuscul Disord. 2021. PMID: 33658162
Manic and Depressive Symptoms in Children Diagnosed with Noonan Syndrome.
Alfieri P, Cumbo F, Serra G, Trasolini M, Frattini C, Scibelli F, Licchelli S, Cirillo F, Caciolo C, Casini MP, D'Amico A, Tartaglia M, Digilio MC, Capolino R, Vicari S. Alfieri P, et al. Among authors: cumbo f. Brain Sci. 2021 Feb 13;11(2):233. doi: 10.3390/brainsci11020233. Brain Sci. 2021. PMID: 33668418 Free PMC article.
"Atypical" Krabbe disease in two siblings harboring biallelic GALC mutations including a deep intronic variant.
Nicita F, Stregapede F, Deodato F, Pizzi S, Martinelli S, Pagliara D, Aiello C, Cumbo F, Piemonte F, D'Amico J, Pro S, Longo D, Genovese S, Tartaglia M, Escolar ML, Bertini E, Travaglini L. Nicita F, et al. Among authors: cumbo f. Eur J Hum Genet. 2022 Aug;30(8):984-988. doi: 10.1038/s41431-022-01111-z. Epub 2022 May 17. Eur J Hum Genet. 2022. PMID: 35581417 Free PMC article.
39 results