Castiglioni C - Search Results

1

Insights from genotype-phenotype correlations by novel SPEG mutations causing centronuclear myopathy.

Wang H, Castiglioni C, Kaçar Bayram A, Fattori F, Pekuz S, Araneda D, Per H, Erazo R, Gümüş H, Zorludemir S, Becker K, Ortega X, Bevilacqua JA, Bertini E, Cirak S. Wang H, et al. Among authors: castiglioni c. Neuromuscul Disord. 2017 Sep;27(9):836-842. doi: 10.1016/j.nmd.2017.05.014. Epub 2017 May 24. Neuromuscul Disord. 2017. PMID: 28624463

2

PRRT2 mutation causes paroxysmal kinesigenic dyskinesia and hemiplegic migraine in monozygotic twins.

Castiglioni C, López I, Riant F, Bertini E, Terracciano A. Castiglioni C, et al. Eur J Paediatr Neurol. 2013 May;17(3):254-8. doi: 10.1016/j.ejpn.2012.10.010. Epub 2012 Nov 19. Eur J Paediatr Neurol. 2013. PMID: 23182655

3

Activating PIK3CA somatic mutation in congenital unilateral isolated muscle overgrowth of the upper extremity.

Castiglioni C, Bertini E, Orellana P, Villarroel C, Las Heras F, Hinzpeter D, Paolinelli P, Bevilacqua JA, Alvarez K. Castiglioni C, et al. Am J Med Genet A. 2014 Sep;164A(9):2365-9. doi: 10.1002/ajmg.a.36651. Epub 2014 Jun 26. Am J Med Genet A. 2014. PMID: 24975390

4

Muscle magnetic resonance imaging and histopathology in ACTA1-related congenital nemaline myopathy.

Castiglioni C, Cassandrini D, Fattori F, Bellacchio E, D'Amico A, Alvarez K, Gejman R, Diaz J, Santorelli FM, Romero NB, Bertini E, Bevilacqua JA. Castiglioni C, et al. Muscle Nerve. 2014 Dec;50(6):1011-6. doi: 10.1002/mus.24353. Epub 2014 Oct 30. Muscle Nerve. 2014. PMID: 25088345

5

Toward an objective measure of functional disability in dysferlinopathy.

Woudt L, Di Capua GA, Krahn M, Castiglioni C, Hughes R, Campero M, Trangulao A, González-Hormazábal P, Godoy-Herrera R, Lévy N, Urtizberea JA, Jara L, Bevilacqua JA. Woudt L, et al. Among authors: castiglioni c. Muscle Nerve. 2016 Jan;53(1):49-57. doi: 10.1002/mus.24685. Epub 2015 May 23. Muscle Nerve. 2016. PMID: 25900324

6

Pyruvate dehydrogenase deficiency presenting as isolated paroxysmal exercise induced dystonia successfully reversed with thiamine supplementation. Case report and mini-review.

Castiglioni C, Verrigni D, Okuma C, Diaz A, Alvarez K, Rizza T, Carrozzo R, Bertini E, Miranda M. Castiglioni C, et al. Eur J Paediatr Neurol. 2015 Sep;19(5):497-503. doi: 10.1016/j.ejpn.2015.04.008. Epub 2015 May 14. Eur J Paediatr Neurol. 2015. PMID: 26008863 Review.

7

Broadening the imaging phenotype of dysferlinopathy at different disease stages.

Díaz J, Woudt L, Suazo L, Garrido C, Caviedes P, CÁrdenas AM, Castiglioni C, Bevilacqua JA. Díaz J, et al. Among authors: castiglioni c. Muscle Nerve. 2016 Aug;54(2):203-10. doi: 10.1002/mus.25045. Epub 2016 May 26. Muscle Nerve. 2016. PMID: 26800485

8

Keloids, Spontaneous or After Minor Skin Injury: Importance of Not Missing Bethlem Myopathy.

Echeverría C, Diaz A, Suarez B, Bevilacqua JA, Bonnemann C, Bertini E, Castiglioni C. Echeverría C, et al. Among authors: castiglioni c. Acta Derm Venereol. 2017 Feb 8;97(2):297-298. doi: 10.2340/00015555-2523. Acta Derm Venereol. 2017. PMID: 27563703 Free PMC article. No abstract available.

9

Neuromyopathy with congenital cataracts and glaucoma: a distinct syndrome caused by POLG variants.

Castiglioni C, Fattori F, Udd B, de Los Angeles Avaria M, Suarez B, D'Amico A, Malandrini A, Carrozzo R, Verrigni D, Bertini E, Tasca G. Castiglioni C, et al. Eur J Hum Genet. 2018 Mar;26(3):367-373. doi: 10.1038/s41431-017-0003-4. Epub 2018 Jan 22. Eur J Hum Genet. 2018. PMID: 29358615 Free PMC article.

10

Defective kinesin binding of TUBB2A causes progressive spastic ataxia syndrome resembling sacsinopathy.

Sferra A, Fattori F, Rizza T, Flex E, Bellacchio E, Bruselles A, Petrini S, Cecchetti S, Teson M, Restaldi F, Ciolfi A, Santorelli FM, Zanni G, Barresi S, Castiglioni C, Tartaglia M, Bertini E. Sferra A, et al. Among authors: castiglioni c. Hum Mol Genet. 2018 Jun 1;27(11):1892-1904. doi: 10.1093/hmg/ddy096. Hum Mol Genet. 2018. PMID: 29547997

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