Detalhe da pesquisa
1.
Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores.
Am J Hum Genet
; 107(6): 1078-1095, 2020 12 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33217308
2.
Identification of immunosuppressive factors in retinoblastoma cell secretomes and aqueous humor from patients.
J Pathol
; 257(3): 327-339, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35254670
3.
The spectrum of morphological findings in pediatric central nervous system MN1-fusion-positive neuroepithelial tumors.
Childs Nerv Syst
; 39(2): 379-386, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36534132
4.
Medulloblastoma and Down Syndrome: An Extremely Rare Association.
J Pediatr Hematol Oncol
; 44(7): 415-418, 2022 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35704799
5.
Craniospinal irradiation as part of re-irradiation for children with recurrent medulloblastoma.
J Neurooncol
; 155(1): 53-61, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34505229
6.
Intracranial germ cells tumour: a single institution experience in Argentina.
J Neurooncol
; 152(2): 363-372, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33660119
7.
Lung destruction secondary to intrapulmonary migration of a ventriculoperitoneal shunt catheter: report of an unusual case and literature review.
Childs Nerv Syst
; 37(3): 989-993, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32514761
8.
Treatment response of CNS high-grade neuroepithelial tumors with MN1 alteration.
Pediatr Blood Cancer
; 67(12): e28627, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32959992
9.
Mitochondrial stress triggers a pro-survival response through epigenetic modifications of nuclear DNA.
Cell Mol Life Sci
; 76(7): 1397-1417, 2019 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-30673822
10.
Melanotic neuroectodermal tumor of infancy arising from the skull: report of an unusual case, review of the literature, and a diagnostic approach.
Childs Nerv Syst
; 36(3): 469-475, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31897638
11.
Sarcomeric disorganization and nemaline bodies in muscle biopsies of patients with EXOSC3-related type 1 pontocerebellar hypoplasia.
Muscle Nerve
; 59(1): 137-141, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30025162
12.
Minimally disseminated disease and outcome in overt orbital retinoblastoma.
Pediatr Blood Cancer
; 66(6): e27662, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30803140
13.
[Argentine consensus on late-onset Pompe's disease]. / Consenso argentino sobre enfermedad de Pompe de inicio tardío.
Medicina (B Aires)
; 78 Suppl 1: 1-23, 2018.
Artigo
em Espanhol
| MEDLINE | ID: mdl-30179846
14.
Second Neoplasms in Children Following a Treatment for Acute Leukemia and/or Lymphoma: 29 Years of Experience in a Single Institution in Argentina.
J Pediatr Hematol Oncol
; 39(8): e406-e412, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28945661
15.
Identification of ZCCHC8 as fusion partner of ROS1 in a case of congenital glioblastoma multiforme with a t(6;12)(q21;q24.3).
Genes Chromosomes Cancer
; 55(9): 677-87, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27121553
16.
Type II focal cortical dysplasia: electroclinical study and surgical outcome in 31 pediatric patients.
Childs Nerv Syst
; 29(11): 2079-87, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23832072
17.
EpiGe: A machine-learning strategy for rapid classification of medulloblastoma using PCR-based methyl-genotyping.
iScience
; 26(9): 107598, 2023 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37664618
18.
Establishment and Comprehensive Characterization of a Novel Preclinical Platform of Metastatic Retinoblastoma for Therapeutic Developments.
Invest Ophthalmol Vis Sci
; 64(15): 27, 2023 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38117242
19.
Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies.
Acta Neuropathol Commun
; 10(1): 101, 2022 07 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35810298
20.
Early onset collagen VI myopathies: Genetic and clinical correlations.
Ann Neurol
; 68(4): 511-20, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20976770