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List of works by Claudia Castiglioni

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

scientific article published on 23 March 2018

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

scientific article published on 26 June 2014

Broadening the imaging phenotype of dysferlinopathy at different disease stages

scientific article published on 21 January 2016

Clinical and imaging hallmarks of the MYH7-related myopathy with severe axial involvement

scientific article published on 14 May 2018

Copy number variation analysis in adults with catatonia confirms haploinsufficiency of SHANK3 as a predisposing factor

scientific article published on 9 August 2016

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

scientific article published on 14 March 2018

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

scientific article published on 24 May 2017

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

scientific article published on 26 August 2016

Muscle magnetic resonance imaging and histopathology inACTA1-related congenital nemaline myopathy

article

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

scientific article published on 25 May 2018

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

scientific article

Novel bi-allelic variants expand the SPTBN4-related genetic and phenotypic spectrum

scientific article published on 26 March 2021

Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores.

scientific article published in May 2008

Observations from a nationwide vigilance program in medical care for spinal muscular atrophy patients in Chile

scientific article published on 29 July 2019

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

article by Claudia Castiglioni et al published May 2013 in European Journal of Paediatric Neurology

Phenomenology and clinical course of movement disorder in GNAO1 variants: Results from an analytical review

scientific article published on 16 November 2018

Pseudohypoparathyroidism type 1B associated with assisted reproductive technology.

scientific article

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

scientific article

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

scientific article published on 03 October 2019

Severe brain involvement in 5q spinal muscular atrophy type 0

scientific article published on 24 July 2019

TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.

scientific article

The clinical, histological, and genotypic spectrum of SEPN1-related myopathy: A case series

scientific article published on 13 August 2020

Toward an objective measure of functional disability in dysferlinopathy

scientific article published on 21 April 2015

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

scientific article published on 01 June 2018

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