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Items: 12

1.

Incomplete silencing of full mutation alleles in males with fragile X syndrome is associated with autistic features.

Baker EK, Arpone M, Aliaga SM, Bretherton L, Kraan CM, Bui M, Slater HR, Ling L, Francis D, Hunter MF, Elliott J, Rogers C, Field M, Cohen J, Cornish K, Santa Maria L, Faundes V, Curotto B, Morales P, Trigo C, Salas I, Alliende AM, Amor DJ, Godler DE.

Mol Autism. 2019 May 3;10:21. doi: 10.1186/s13229-019-0271-7. eCollection 2019.

2.

Clinical and Molecular Differences between 4-Year-Old Monozygous Male Twins Mosaic for Normal, Premutation and Fragile X Full Mutation Alleles.

Pandelache A, Baker EK, Aliaga SM, Arpone M, Forbes R, Stark Z, Francis D, Godler DE.

Genes (Basel). 2019 Apr 5;10(4). pii: E279. doi: 10.3390/genes10040279.

3.

Accuracy of NEXUS II head injury decision rule in children: a prospective PREDICT cohort study.

Babl FE, Oakley E, Dalziel SR, Borland ML, Phillips N, Kochar A, Dalton S, Cheek JA, Gilhotra Y, Furyk J, Neutze J, Donath S, Hearps S, Crowe LM, Arpone M, Bressan S, Lyttle MD; Paediatric Research in Emergency Department International Collaborative (PREDICT).

Emerg Med J. 2019 Jan;36(1):4-11. doi: 10.1136/emermed-2017-207435. Epub 2018 Aug 20.

PMID:
30127072
4.

Penetrating head injuries in children presenting to the emergency department in Australia and New Zealand: A PREDICT prospective study.

Babl FE, Lyttle MD, Bressan S, Borland ML, Phillips N, Kochar A, Dalton S, Cheek JA, Gilhotra Y, Furyk J, Neutze J, Donath S, Hearps S, Arpone M, Crowe L, Dalziel SR, Barker R, Oakley E.

J Paediatr Child Health. 2018 Aug;54(8):861-865. doi: 10.1111/jpc.13903. Epub 2018 Mar 26.

PMID:
29579354
5.

Intragenic DNA methylation in buccal epithelial cells and intellectual functioning in a paediatric cohort of males with fragile X.

Arpone M, Baker EK, Bretherton L, Bui M, Li X, Whitaker S, Dissanayake C, Cohen J, Hickerton C, Rogers C, Field M, Elliott J, Aliaga SM, Ling L, Francis D, Hearps SJC, Hunter MF, Amor DJ, Godler DE.

Sci Rep. 2018 Feb 26;8(1):3644. doi: 10.1038/s41598-018-21990-x.

6.

Dysarthria and broader motor speech deficits in Dravet syndrome.

Turner SJ, Brown A, Arpone M, Anderson V, Morgan AT, Scheffer IE.

Neurology. 2017 Feb 21;88(8):743-749. doi: 10.1212/WNL.0000000000003635. Epub 2017 Feb 1.

7.

Erratum: Hwang Y.T. et al. Molecular Inconsistencies in a Fragile X Male with Early Onset Ataxia. Genes 2016, 7, 68.

Hwang YT, Dudding T, Aliaga SM, Arpone M, Francis D, Li X, Slater HR, Rogers C, Bretherton L, du Sart D, Heard R, Godler DE.

Genes (Basel). 2017 Jan 24;8(2). pii: E47. doi: 10.3390/genes8020047.

8.

Partially methylated alleles, microdeletion, and tissue mosaicism in a fragile X male with tremor and ataxia at 30 years of age: A case report.

Hwang YT, Aliaga SM, Arpone M, Francis D, Li X, Chong B, Slater HR, Rogers C, Bretherton L, Hunter M, Heard R, Godler DE.

Am J Med Genet A. 2016 Dec;170(12):3327-3332. doi: 10.1002/ajmg.a.37954. Epub 2016 Oct 1.

PMID:
27696642
9.

Molecular Inconsistencies in a Fragile X Male with Early Onset Ataxia.

Hwang YT, Dudding T, Aliaga SM, Arpone M, Francis D, Li X, Slater HR, Rogers C, Bretherton L, du Sart D, Heard R, Godler DE.

Genes (Basel). 2016 Sep 21;7(9). pii: E68. doi: 10.3390/genes7090068. Erratum in: Genes (Basel). 2017 Jan 24;8(2):.

10.

Use of sedation in children receiving computed tomography after head injuries.

Goldwasser T, Bressan S, Oakley E, Arpone M, Babl FE.

Eur J Emerg Med. 2015 Dec;22(6):413-8. doi: 10.1097/MEJ.0000000000000201.

PMID:
25222427
11.

Microstructural white matter correlates of emotion recognition impairment in Amyotrophic Lateral Sclerosis.

Crespi C, Cerami C, Dodich A, Canessa N, Arpone M, Iannaccone S, Corbo M, Lunetta C, Scola E, Falini A, Cappa SF.

Cortex. 2014 Apr;53:1-8. doi: 10.1016/j.cortex.2014.01.002. Epub 2014 Jan 18.

PMID:
24534360
12.

Emotion recognition from facial expressions: a normative study of the Ekman 60-Faces Test in the Italian population.

Dodich A, Cerami C, Canessa N, Crespi C, Marcone A, Arpone M, Realmuto S, Cappa SF.

Neurol Sci. 2014 Jul;35(7):1015-21. doi: 10.1007/s10072-014-1631-x. Epub 2014 Jan 19.

PMID:
24442557

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