Murgia A - Search Results

1

Activation Ratio Correlates with IQ in Female Carriers of the FMR1 Premutation.

Protic D, Polli R, Hwang YH, Mendoza G, Hagerman R, Durbin-Johnson B, Hayward BE, Usdin K, Murgia A, Tassone F. Protic D, et al. Among authors: murgia a. Cells. 2023 Jun 24;12(13):1711. doi: 10.3390/cells12131711. Cells. 2023. PMID: 37443745 Free PMC article.

2

Genetics and mathematics: FMR1 premutation female carriers.

Semenza C, Bonollo S, Polli R, Busana C, Pignatti R, Iuculano T, Maria Laverda A, Priftis K, Murgia A. Semenza C, et al. Among authors: murgia a. Neuropsychologia. 2012 Dec;50(14):3757-63. doi: 10.1016/j.neuropsychologia.2012.10.021. Epub 2012 Nov 1. Neuropsychologia. 2012. PMID: 23123760

3

AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission.

Yrigollen CM, Martorell L, Durbin-Johnson B, Naudo M, Genoves J, Murgia A, Polli R, Zhou L, Barbouth D, Rupchock A, Finucane B, Latham GJ, Hadd A, Berry-Kravis E, Tassone F. Yrigollen CM, et al. Among authors: murgia a. J Neurodev Disord. 2014;6(1):24. doi: 10.1186/1866-1955-6-24. Epub 2014 Jul 30. J Neurodev Disord. 2014. PMID: 25110527 Free PMC article.

4

Impact of the COVID-19 Italian Lockdown on the Physiological and Psychological Well-Being of Children with Fragile X Syndrome and Their Families.

Di Giorgio E, Polli R, Lunghi M, Murgia A. Di Giorgio E, et al. Among authors: murgia a. Int J Environ Res Public Health. 2021 May 27;18(11):5752. doi: 10.3390/ijerph18115752. Int J Environ Res Public Health. 2021. PMID: 34071956 Free PMC article.

5

Distribution of AGG interruption patterns within nine world populations.

Yrigollen CM, Sweha S, Durbin-Johnson B, Zhou L, Berry-Kravis E, Fernandez-Carvajal I, Faradz SM, Amiri K, Shaheen H, Polli R, Murillo-Bonilla L, Silva Arevalo Gde J, Cogram P, Murgia A, Tassone F. Yrigollen CM, et al. Among authors: murgia a. Intractable Rare Dis Res. 2014 Nov;3(4):153-61. doi: 10.5582/irdr.2014.01028. Intractable Rare Dis Res. 2014. PMID: 25606365 Free PMC article.

6

Amplification of the Xq28 FRAXE repeats: extreme phenotype variability?

Murgia A, Polli R, Vinanzi C, Salis M, Drigo P, Artifoni L, Zacchello F. Murgia A, et al. Am J Med Genet. 1996 Aug 9;64(2):441-4. doi: 10.1002/(SICI)1096-8628(19960809)64:2<441::AID-AJMG41>3.0.CO;2-C. Am J Med Genet. 1996. PMID: 8844100

7

Feasibility and Reliability Assessment of Video-Based Motion Analysis and Surface Electromyography in Children with Fragile X during Gait.

Sawacha Z, Spolaor F, Piątkowska WJ, Cibin F, Ciniglio A, Guiotto A, Ricca M, Polli R, Murgia A. Sawacha Z, et al. Among authors: murgia a. Sensors (Basel). 2021 Jul 12;21(14):4746. doi: 10.3390/s21144746. Sensors (Basel). 2021. PMID: 34300485 Free PMC article.

8

FRAXA and FRAXE: new tools for the diagnosis of mental retardation.

Murgia A, Vinanzi C, Polli R, Artifoni L, Zacchello F. Murgia A, et al. Acta Genet Med Gemellol (Roma). 1996;45(1-2):295-7. doi: 10.1017/s0001566000001501. Acta Genet Med Gemellol (Roma). 1996. PMID: 8872051 No abstract available.

9

Periventricular heterotopia in fragile X syndrome.

Moro F, Pisano T, Bernardina BD, Polli R, Murgia A, Zoccante L, Darra F, Battaglia A, Pramparo T, Zuffardi O, Guerrini R. Moro F, et al. Among authors: murgia a. Neurology. 2006 Aug 22;67(4):713-5. doi: 10.1212/01.wnl.0000230223.51595.99. Neurology. 2006. PMID: 16924033

10

A Missense De Novo Variant in the CASK-interactor KIRREL3 Gene Leading to Neurodevelopmental Disorder with Mild Cerebellar Hypoplasia.

Ciaccio C, Leonardi E, Polli R, Murgia A, D'Arrigo S, Granocchio E, Chiapparini L, Pantaleoni C, Esposito S. Ciaccio C, et al. Among authors: murgia a. Neuropediatrics. 2021 Dec;52(6):484-488. doi: 10.1055/s-0041-1725964. Epub 2021 Apr 14. Neuropediatrics. 2021. PMID: 33853164

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