Guala A - Search Results

1

Advanced magnetic resonance imaging in benign hereditary chorea: study of two familial cases.

Maccabelli G, Pichiecchio A, Guala A, Ponzio M, Palesi F, Maranzana Rt D, Poloni GU, Bastianello S, Danesino C. Maccabelli G, et al. Among authors: guala a. Mov Disord. 2010 Nov 15;25(15):2670-4. doi: 10.1002/mds.23281. Mov Disord. 2010. PMID: 20803509

2

Duplication of the pituitary stalk in a patient with a heterozygous deletion of chromosome 14 harboring the thyroid transcription factor-1 gene.

Accornero S, Danesino C, Bastianello S, D'Errico I, Guala A, Chiovato L. Accornero S, et al. Among authors: guala a. J Clin Endocrinol Metab. 2010 Aug;95(8):3595-6. doi: 10.1210/jc.2010-0621. J Clin Endocrinol Metab. 2010. PMID: 20685887

3

Deletion of PAX9 and oligodontia: a third family and review of the literature.

Guala A, Falco V, Breedveld G, De Filippi P, Danesino C. Guala A, et al. Int J Paediatr Dent. 2008 Nov;18(6):441-5. doi: 10.1111/j.1365-263X.2008.00915.x. Epub 2008 Apr 28. Int J Paediatr Dent. 2008. PMID: 18445003 Review.

4

¹⁸F-FDG PET Identifies Altered Brain Metabolism in Patients with Cri du Chat Syndrome.

Cistaro A, Quartuccio N, Piccardo A, Fania P, Spunton M, Liava A, Danesino C, Albani G, Guala A. Cistaro A, et al. Among authors: guala a. J Nucl Med. 2020 Aug;61(8):1195-1199. doi: 10.2967/jnumed.119.236893. Epub 2019 Dec 13. J Nucl Med. 2020. PMID: 31836684 Free article. Clinical Trial.

5

Mutations in TITF-1 are associated with benign hereditary chorea.

Breedveld GJ, van Dongen JW, Danesino C, Guala A, Percy AK, Dure LS, Harper P, Lazarou LP, van der Linde H, Joosse M, Grüters A, MacDonald ME, de Vries BB, Arts WF, Oostra BA, Krude H, Heutink P. Breedveld GJ, et al. Among authors: guala a. Hum Mol Genet. 2002 Apr 15;11(8):971-9. doi: 10.1093/hmg/11.8.971. Hum Mol Genet. 2002. PMID: 11971878

6

Neoplasia in Cri du Chat Syndrome from Italian and German Databases.

Guala A, Spunton M, Kalantari S, Kennerknecht I, Danesino C. Guala A, et al. Case Rep Genet. 2017;2017:5181624. doi: 10.1155/2017/5181624. Epub 2017 Apr 24. Case Rep Genet. 2017. PMID: 28523196 Free PMC article.

7

Rapunzel syndrome: how to orient the diagnosis.

Finale E, Franceschini P, Danesino C, Barbaglia M, Guala A. Finale E, et al. Among authors: guala a. Pediatr Rep. 2018 Jun 27;10(2):7689. doi: 10.4081/pr.2018.7689. eCollection 2018 May 24. Pediatr Rep. 2018. PMID: 30069295 Free PMC article.

8

Children and adults affected by Cri du Chat syndrome: Care's recommendations.

Liverani ME, Spano A, Danesino C, Malacarne M, Cavani S, Spunton M, Guala A. Liverani ME, et al. Among authors: guala a. Pediatr Rep. 2019 Feb 26;11(1):7839. doi: 10.4081/pr.2019.7839. eCollection 2019 Feb 26. Pediatr Rep. 2019. PMID: 30838120 Free PMC article.

9

Maternal germinal mosaicism for SCN1A in sibs with a mild form of Dravet syndrome.

Guala A, Peruzzi C, Gennaro E, Pennese L, Danesino C. Guala A, et al. Am J Med Genet A. 2015 May;167A(5):1165-7. doi: 10.1002/ajmg.a.36990. Am J Med Genet A. 2015. PMID: 25885068 No abstract available.

10

Psychomotor Development in Cri du Chat Syndrome: Comparison in Two Italian Cohorts with Different Rehabilitation Methods.

Guala A, Spunton M, Tognon F, Pedrinazzi M, Medolago L, Cerutti Mainardi P, Spairani S, Malacarne M, Finale E, Comelli M, Danesino C. Guala A, et al. ScientificWorldJournal. 2016;2016:3125283. doi: 10.1155/2016/3125283. Epub 2016 Nov 28. ScientificWorldJournal. 2016. PMID: 28004033 Free PMC article.

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