Milone R - Search Results

1

17q12 Recurrent Deletions and Duplications: Description of a Case Series with Neuropsychiatric Phenotype.

Milone R, Tancredi R, Cosenza A, Ferrari AR, Scalise R, Cioni G, Battini R. Milone R, et al. Genes (Basel). 2021 Oct 21;12(11):1660. doi: 10.3390/genes12111660. Genes (Basel). 2021. PMID: 34828266 Free PMC article.

2

Focal cortical dysplasia, microcephaly and epilepsy in a boy with 1q21.1-q21.3 duplication.

Milone R, Valetto A, Battini R, Bertini V, Valvo G, Cioni G, Sicca F. Milone R, et al. Eur J Med Genet. 2016 May;59(5):278-82. doi: 10.1016/j.ejmg.2016.03.003. Epub 2016 Mar 11. Eur J Med Genet. 2016. PMID: 26975584

3

Complex Phenotype of a Boy With De Novo 16p13.3-13.2 Interstitial Deletion.

Milone R, Ferrari AR, Pasquariello R, Bargagna S. Milone R, et al. Child Neurol Open. 2016 Dec 16;3:2329048X16676153. doi: 10.1177/2329048X16676153. eCollection 2016 Jan-Dec. Child Neurol Open. 2016. PMID: 28503620 Free PMC article.

4

Deletion Extents Are Not the Cause of Clinical Variability in 22q11.2 Deletion Syndrome: Does the Interaction between DGCR8 and miRNA-CNVs Play a Major Role?

Bertini V, Azzarà A, Legitimo A, Milone R, Battini R, Consolini R, Valetto A. Bertini V, et al. Among authors: milone r. Front Genet. 2017 May 1;8:47. doi: 10.3389/fgene.2017.00047. eCollection 2017. Front Genet. 2017. PMID: 28507561 Free PMC article.

5

Benign infantile seizures followed by autistic regression in a boy with 16p11.2 deletion.

Milone R, Valetto A, Bertini V, Sicca F. Milone R, et al. Epileptic Disord. 2017 Jun 1;19(2):222-225. doi: 10.1684/epd.2017.0909. Epileptic Disord. 2017. PMID: 28573975 English.

6

Four years follow up of ACY1 deficient patient and pedigree study.

Alessandrì MG, Milone R, Casalini C, Nesti C, Cioni G, Battini R. Alessandrì MG, et al. Among authors: milone r. Brain Dev. 2018 Aug;40(7):570-575. doi: 10.1016/j.braindev.2018.03.009. Epub 2018 Apr 10. Brain Dev. 2018. PMID: 29653693

7

Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study.

D'Amore A, Tessa A, Casali C, Dotti MT, Filla A, Silvestri G, Antenora A, Astrea G, Barghigiani M, Battini R, Battisti C, Bruno I, Cereda C, Dato C, Di Iorio G, Donadio V, Felicori M, Fini N, Fiorillo C, Gallone S, Gemignani F, Gigli GL, Graziano C, Guerrini R, Gurrieri F, Kariminejad A, Lieto M, Marques LourenḈo C, Malandrini A, Mandich P, Marcotulli C, Mari F, Massacesi L, Melone MAB, Mignarri A, Milone R, Musumeci O, Pegoraro E, Perna A, Petrucci A, Pini A, Pochiero F, Pons MR, Ricca I, Rossi S, Seri M, Stanzial F, Tinelli F, Toscano A, Valente M, Federico A, Rubegni A, Santorelli FM. D'Amore A, et al. Among authors: milone r. Front Neurol. 2018 Dec 4;9:981. doi: 10.3389/fneur.2018.00981. eCollection 2018. Front Neurol. 2018. PMID: 30564185 Free PMC article.

8

A Not So Benign Family Pedigree With Hereditary Chorea: A Broader Phenotypic Expression or Additional Picture?

Milone R, Masson R, Di Cosmo C, Tonacchera M, Bertini V, Guzzetta A, Battini R. Milone R, et al. Child Neurol Open. 2019 Feb 12;6:2329048X19828881. doi: 10.1177/2329048X19828881. eCollection 2019. Child Neurol Open. 2019. PMID: 30793011 Free PMC article.

9

Spinal cord demyelination in children: A diagnostic challenge in neuropaediatrics for a good outcome.

Battini R, Olivieri G, Milone R, Mazio F, Scalise R, Verdolotti T, Primiano G, Genovese O, Mercuri E, Servidei S. Battini R, et al. Among authors: milone r. Brain Dev. 2020 Jun;42(6):457-461. doi: 10.1016/j.braindev.2020.03.001. Epub 2020 Mar 21. Brain Dev. 2020. PMID: 32209270

10

De Novo 1q21.3q22 Duplication Revaluation in a "Cold" Complex Neuropsychiatric Case with Syndromic Intellectual Disability.

Milone R, Scalise R, Pasquariello R, Berloffa S, Ricca I, Battini R. Milone R, et al. Genes (Basel). 2021 Mar 31;12(4):511. doi: 10.3390/genes12040511. Genes (Basel). 2021. PMID: 33807234 Free PMC article.

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