Lista de obras - Claudia Castiglioni - Dominio Público Uruguay

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

artículo científico publicado en 2018

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

artículo científico publicado en 2014

Broadening the imaging phenotype of dysferlinopathy at different disease stages

artículo científico publicado en 2016

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

artículo científico publicado en 2018

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

artículo científico publicado en 2016

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

artículo científico publicado en 2018

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

artículo científico publicado en 2017

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

artículo científico publicado en 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

artículo científico publicado en 2018

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

artículo científico publicado en 2018

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

artículo científico publicado en 2021

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

artículo científico publicado en 2008

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

artículo científico publicado en 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.

artículo científico publicado en 2017

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

artículo científico publicado en 2015

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.

artículo científico publicado en 2016

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

artículo científico publicado en 2015

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

artículo científico publicado en 2018

Lista de obras de Claudia Castiglioni

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

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

Broadening the imaging phenotype of dysferlinopathy at different disease stages

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

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

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

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

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

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

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

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

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

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

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

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

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

Pseudohypoparathyroidism type 1B associated with assisted reproductive technology.

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

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

Severe brain involvement in 5q spinal muscular atrophy type 0

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

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

Toward an objective measure of functional disability in dysferlinopathy

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