Prati
CLAUDIA CASTIGLIONI
CLAUDIA CASTIGLIONI
Departamento Pediatría. Unidad Neurologia Pediatrica Clinica MEDS
Potvrđena adresa e-pošte na meds.cl - Početna stranica
Naslov
Citirano
Citirano
Godina
Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go
T Dangouloff, E Vrščaj, L Servais, D Osredkar, T Adoukonou, O Aryani, ...
Neuromuscular Disorders 31 (6), 574-582, 2021
1422021
TBC1D24 genotype–phenotype correlation: Epilepsies and other neurologic features
S Balestrini, M Milh, C Castiglioni, K Lüthy, MJ Finelli, P Verstreken, ...
Neurology 87 (1), 77-85, 2016
1202016
Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores
N Monnier, I Marty, J Faure, C Castiglioni, C Desnuelle, S Sacconi, ...
Human mutation 29 (5), 670-678, 2008
1062008
Phenomenology and clinical course of movement disorder in GNAO1 variants: results from an analytical review
T Schirinzi, G Garone, L Travaglini, G Vasco, S Galosi, L Rios, ...
Parkinsonism & Related Disorders 61, 19-25, 2019
692019
McLeod myopathy revisited: more neurogenic and less benign
E Hewer, A Danek, BG Schoser, M Miranda, R Reichard, C Castiglioni, ...
Brain 130 (12), 3285-3296, 2007
672007
Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study
S Groeneweg, FS van Geest, A Abacı, A Alcantud, GP Ambegaonkar, ...
The Lancet Diabetes & Endocrinology 8 (7), 594-605, 2020
612020
Pyruvate dehydrogenase deficiency presenting as isolated paroxysmal exercise induced dystonia successfully reversed with thiamine supplementation. Case report and mini-review
C Castiglioni, D Verrigni, C Okuma, A Diaz, K Alvarez, T Rizza, ...
European Journal of Paediatric Neurology 19 (5), 497-503, 2015
602015
The clinical, histologic, and genotypic spectrum of SEPN1-related myopathy: A case series
RN Villar-Quiles, M von Der Hagen, C Métay, V Gonzalez, S Donkervoort, ...
Neurology 95 (11), e1512-e1527, 2020
462020
Severe brain involvement in 5q spinal muscular atrophy type 0
RH Mendonça, AJ Rocha, A Lozano‐Arango, AB Diaz, C Castiglioni, ...
Annals of neurology 86 (3), 458-462, 2019
402019
Atrofia muscular espinal: Caracterización clínica, electrofisiológica y molecular de 26 pacientes
C Castiglioni, J Levicán, E Rodillo, MA Garmendia, A Díaz, L Pizarro, ...
Revista médica de Chile 139 (2), 197-204, 2011
402011
Broadening the imaging phenotype of dysferlinopathy at different disease stages
J Díaz, L Woudt, L Suazo, C Garrido, P Caviedes, AM CÁrdenas, ...
Muscle & nerve 54 (2), 203-210, 2016
382016
Defective kinesin binding of TUBB2A causes progressive spastic ataxia syndrome resembling sacsinopathy
A Sferra, F Fattori, T Rizza, E Flex, E Bellacchio, A Bruselles, S Petrini, ...
Human molecular genetics 27 (11), 1892-1904, 2018
352018
Insights from genotype–phenotype correlations by novel SPEG mutations causing centronuclear myopathy
H Wang, C Castiglioni, AK Bayram, F Fattori, S Pekuz, D Araneda, H Per, ...
Neuromuscular Disorders 27 (9), 836-842, 2017
352017
Phenotypic variability of a distinct deletion in McLeod syndrome
M Miranda, C Castiglioni, BM Frey, M Hergersberg, A Danek, HH Jung
Movement disorders: official journal of the Movement Disorder Society 22 (9 …, 2007
322007
Aripiprazole for the treatment of Tourette syndrome. Experience in 10 patients
G de la Tourette
Rev Med Chile 135, 773-776, 2007
322007
Toward an objective measure of functional disability in dysferlinopathy
L Woudt, GA Di Capua, M Krahn, C Castiglioni, R Hughes, M Campero, ...
Muscle & nerve 53 (1), 49-57, 2016
302016
PRRT2 mutation causes paroxysmal kinesigenic dyskinesia and hemiplegic migraine in monozygotic twins
C Castiglioni, I López, F Riant, E Bertini, A Terracciano
european journal of paediatric neurology 17 (3), 254-258, 2013
302013
Muscular MRI-based algorithm to differentiate inherited myopathies presenting with spinal rigidity
M Tordjman, I Dabaj, P Laforet, A Felter, A Ferreiro, M Biyoukar, B Law-Ye, ...
European radiology 28, 5293-5303, 2018
292018
Copy number variation analysis in adults with catatonia confirms haploinsufficiency of SHANK3 as a predisposing factor
J Breckpot, M Vercruyssen, E Weyts, S Vandevoort, G D'Haenens, ...
European journal of medical genetics 59 (9), 436-443, 2016
292016
International retrospective natural history study of LMNA-related congenital muscular dystrophy
R Ben Yaou, P Yun, I Dabaj, G Norato, S Donkervoort, H Xiong, ...
Brain communications 3 (3), fcab075, 2021
252021
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