Castiglioni C - Search Results

1

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.

2

Phenotypic variability of a distinct deletion in McLeod syndrome.

Miranda M, Castiglioni C, Frey BM, Hergersberg M, Danek A, Jung HH. Miranda M, et al. Among authors: castiglioni c. Mov Disord. 2007 Jul 15;22(9):1358-61. doi: 10.1002/mds.21536. Mov Disord. 2007. PMID: 17469188

3

McLeod myopathy revisited: more neurogenic and less benign.

Hewer E, Danek A, Schoser BG, Miranda M, Reichard R, Castiglioni C, Oechsner M, Goebel HH, Heppner FL, Jung HH. Hewer E, et al. Among authors: castiglioni c. Brain. 2007 Dec;130(Pt 12):3285-96. doi: 10.1093/brain/awm269. Brain. 2007. PMID: 18055495 Free article.

4

[Satoyoshi syndrome: report of one case].

Castiglioni C, Díaz A, Moënne K, Mericq V, Salvador F, Hernández C. Castiglioni C, et al. Rev Med Chil. 2009 Apr;137(4):542-6. Epub 2009 Jun 25. Rev Med Chil. 2009. PMID: 19623421 Free article. Spanish.

5

[Clinical, electrophysiological and molecular study of 26 chilean patients with spinal muscular atrophy].

Castiglioni C, Levicán J, Rodillo E, Garmendia MA, Díaz A, Pizarro L, Contreras L. Castiglioni C, et al. Rev Med Chil. 2011 Feb;139(2):197-204. Epub 2011 Jul 11. Rev Med Chil. 2011. PMID: 21773657 Free article. Spanish.

6

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

7

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

8

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

9

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.

10

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

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