about
TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.Pyruvate dehydrogenase deficiency presenting as isolated paroxysmal exercise induced dystonia successfully reversed with thiamine supplementation. Case report and mini-review.Keloids, Spontaneous or After Minor Skin Injury: Importance of Not Missing Bethlem Myopathy.Toward an objective measure of functional disability in dysferlinopathy.Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores.Neuromyopathy with congenital cataracts and glaucoma: a distinct syndrome caused by POLG variants.Pseudohypoparathyroidism type 1B associated with assisted reproductive technology.Copy number variation analysis in adults with catatonia confirms haploinsufficiency of SHANK3 as a predisposing factor.Broadening the imaging phenotype of dysferlinopathy at different disease stages.Insights from genotype-phenotype correlations by novel SPEG mutations causing centronuclear myopathy.Defective kinesin binding of TUBB2A causes progressive spastic ataxia syndrome resembling sacsinopathy.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.Muscle magnetic resonance imaging and histopathology inACTA1-related congenital nemaline myopathyPRRT2 mutation causes paroxysmal kinesigenic dyskinesia and hemiplegic migraine in monozygotic twinsClinical and imaging hallmarks of the MYH7-related myopathy with severe axial involvementMuscular MRI-based algorithm to differentiate inherited myopathies presenting with spinal rigidity[Collagen VI related myopathies. When to suspect, how to identify. The contribution of muscle magnetic resonance]Reply to "Global Central Nervous System Atrophy in Spinal Muscular Atrophy Type 0"Phenomenology and clinical course of movement disorder in GNAO1 variants: Results from an analytical reviewSevere brain involvement in 5q spinal muscular atrophy type 0Observations from a nationwide vigilance program in medical care for spinal muscular atrophy patients in Chile
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description
researcher, ORCID id # 0000-0002-1981-7550
@en
wetenschapper
@nl
name
Claudia Castiglioni
@ast
Claudia Castiglioni
@en
Claudia Castiglioni
@es
Claudia Castiglioni
@nl
type
label
Claudia Castiglioni
@ast
Claudia Castiglioni
@en
Claudia Castiglioni
@es
Claudia Castiglioni
@nl
altLabel
CLAUDIA CASTIGLIONI
@en
prefLabel
Claudia Castiglioni
@ast
Claudia Castiglioni
@en
Claudia Castiglioni
@es
Claudia Castiglioni
@nl
P1053
A-3570-2017
P106
P1153
20336835900
P21
P31
P496
0000-0002-1981-7550