Claudia Castiglioni

Claudia Castiglioni

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Claudia Castiglioni

Claudia Castiglioni

Publications by authors named "Claudia Castiglioni"

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Reply to "Global Central Nervous System Atrophy in Spinal Muscular Atrophy Type 0".

Ann Neurol 2019 Nov 3;86(5):803. Epub 2019 Oct 3.

Department of Neurology, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil.

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http://dx.doi.org/10.1002/ana.25597DOI Listing
November 2019

Immunohistochemical expression of P-selectin, SP-A, HSP70, aquaporin 5, and fibronectin in saltwater drowning and freshwater drowning.

Int J Legal Med 2019 Sep 20;133(5):1461-1467. Epub 2019 Jun 20.

Centre Universitaire Romand de Médecine Légale, Rue Michel-Servet 1, 1206, Geneva, Chemin de la Vulliette 4, 1000, Lausanne, Switzerland.

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http://dx.doi.org/10.1007/s00414-019-02105-1DOI Listing
September 2019

Severe brain involvement in 5q spinal muscular atrophy type 0.

Ann Neurol 2019 Sep 24;86(3):458-462. Epub 2019 Jul 24.

Department of Neurology, Faculdade de Medicina, Universidade de São Paulo (FMUSP), São Paulo, Brazil.

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http://dx.doi.org/10.1002/ana.25549DOI Listing
September 2019

A comparative digital morphometric study of lung tissue in saltwater and freshwater drowning.

Forensic Sci Int 2019 May 12;298:157-160. Epub 2019 Mar 12.

University Center of Legal Medicine Lausanne-Geneva, Rue Michel-Servet, 1211 Geneva, Switzerland.

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http://dx.doi.org/10.1016/j.forsciint.2019.03.004DOI Listing
May 2019

Muscular MRI-based algorithm to differentiate inherited myopathies presenting with spinal rigidity.

Eur Radiol 2018 Dec 25;28(12):5293-5303. Epub 2018 May 25.

Assistance Publique des Hôpitaux de Paris (AP-HP), Service d'Imagerie Médicale, Pôle Neuro-locomoteur, Hôpital Raymond Poincaré, Garches, Hôpitaux Universitaires Paris-Ile-de-France Ouest, Garches, France.

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http://dx.doi.org/10.1007/s00330-018-5472-5DOI Listing
December 2018

[Respiratory care in spinal muscular atrophy in the new therapeutic era].

Rev Chil Pediatr 2018 Dec;89(6):685-693

Programa Trastornos Motores y Enfermedades Neuromusculares, Clínica Las Condes, Chile.

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http://dx.doi.org/10.4067/S0370-41062018005001208DOI Listing
December 2018

19q13.12 microdeletion syndrome fibroblasts display abnormal storage of cholesterol and sphingolipids in the endo-lysosomal system.

Biochim Biophys Acta Mol Basis Dis 2018 06 24;1864(6 Pt A):2108-2118. Epub 2018 Mar 24.

Atlantic Research Center, Depts. of Pediatrics and Biochemistry & Molecular Biology, Dalhousie University, Halifax, Nova Scotia, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.bbadis.2018.03.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6394866PMC
June 2018

[Collagen VI related myopathies. When to suspect, how to identify. The contribution of muscle magnetic resonance].

Rev Chil Pediatr 2018 Jun;89(3):399-408

Programa Enfermedades Neuromusculares y Trastornos Motores, Departamento de Neurología Pediátrica, Clínica Las Condes, Santiago, Chile.

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http://dx.doi.org/10.4067/S0370-41062018005000305DOI Listing
June 2018

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

Eur J Hum Genet 2018 03 22;26(3):367-373. Epub 2018 Jan 22.

Istituto di Neurologia, Università Cattolica del Sacro Cuore, Fondazione Policlinico Universitario "A. Gemelli", Rome, Italy.

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http://dx.doi.org/10.1038/s41431-017-0003-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5839054PMC
March 2018

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

Neuromuscul Disord 2017 Sep 24;27(9):836-842. Epub 2017 May 24.

Department of Pediatrics, University Hospital Cologne, Kerpener Str. 62, 50931 Cologne, Germany; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Robert-Koch-Str. 21, 50931 Cologne, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2017.05.014DOI Listing
September 2017

Acute pulmonary emphysema in death by hanging: a morphometric digital study.

Int J Legal Med 2016 Sep 22;130(5):1281-5. Epub 2016 Jul 22.

Centre universitaire romand de médecine légale, Rue Michel-Servet 1, 1206, Geneva, Chemin de la Vulliette 4, 1000, Lausanne, Switzerland.

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http://dx.doi.org/10.1007/s00414-016-1418-0DOI Listing
September 2016

Broadening the imaging phenotype of dysferlinopathy at different disease stages.

Muscle Nerve 2016 08 26;54(2):203-10. Epub 2016 May 26.

Unidad Neuromuscular, Departamento de Neurología y Neurocirugía, Hospital Clínico Universidad de Chile (HCUCH), Santos Dumont 999, 2 º piso, Sector E. Independencia, 8380456, Santiago, Chile.

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http://doi.wiley.com/10.1002/mus.25045
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http://dx.doi.org/10.1002/mus.25045DOI Listing
August 2016

Toward an objective measure of functional disability in dysferlinopathy.

Muscle Nerve 2016 Jan 23;53(1):49-57. Epub 2015 May 23.

Unidad Neuromuscular, Departamento de Neurología y Neurocirugía, Hospital Clínico Universidad de Chile, Santos Dumont 999, 2do. piso, Sector E. Independencia, 8380456, Santiago, Chile.

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http://dx.doi.org/10.1002/mus.24685DOI Listing
January 2016

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

Eur J Paediatr Neurol 2015 Sep 14;19(5):497-503. Epub 2015 May 14.

Unit of Neurology, Dept. of Pediatrics and Dept. of Neurology, Clínica las Condes, Santiago, Chile.

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http://dx.doi.org/10.1016/j.ejpn.2015.04.008DOI Listing
September 2015

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

Muscle Nerve 2014 Dec 30;50(6):1011-6. Epub 2014 Oct 30.

Unidad de Neurología. Departamento de Pediatría, Clínica las Condes, Lo Fontecilla 441, Las Condes, Santiago, Chile.

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http://dx.doi.org/10.1002/mus.24353DOI Listing
December 2014

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

Am J Med Genet A 2014 Sep 26;164A(9):2365-9. Epub 2014 Jun 26.

Unit of Neurology, Dept. of Pediatrics, Clínica Las Condes, Santiago, Chile.

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http://dx.doi.org/10.1002/ajmg.a.36651DOI Listing
September 2014

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

Eur J Paediatr Neurol 2013 May 19;17(3):254-8. Epub 2012 Nov 19.

Unit of Neurology, Dept. of Pediatrics, Clínica las Condes, Lo Fontecilla 441, Las Condes, Santiago, Chile.

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http://dx.doi.org/10.1016/j.ejpn.2012.10.010DOI Listing
May 2013

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

Rev Med Chil 2011 Feb 11;139(2):197-204. Epub 2011 Jul 11.

Unidad de Neurología, Departamento de Pediatría, Clínica Las Condes, Santiago, Chile.

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http://dx.doi.org//S0034-98872011000200009DOI Listing
February 2011

[Satoyoshi syndrome: report of one case].

Rev Med Chil 2009 Apr 25;137(4):542-6. Epub 2009 Jun 25.

Radiología, Clínica Las Condes, Santiago, Chile.

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http://dx.doi.org//S0034-98872009000400013DOI Listing
April 2009

Spastic paraparesis as a complication of percutaneous nephrolithothripsy (PNL) on a calyceal calculus of the left kidney.

Arch Ital Urol Androl 2007 Dec;79(4):147-50

Department of Legal and Economic Systems, Faculty of Law, University of Milan-Bicocca.

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December 2007

Phenotypic variability of a distinct deletion in McLeod syndrome.

Mov Disord 2007 Jul;22(9):1358-61

Department of Neurology, Clinica Las Condes, Santiago, Chile.

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http://dx.doi.org/10.1002/mds.21536DOI Listing
July 2007

Fatal liver complications with flutamide.

Lancet 2006 Apr;367(9517):1140-1

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http://dx.doi.org/10.1016/S0140-6736(06)68498-5DOI Listing
April 2006