Search details
1.
Novel MECP2 gene therapy is effective in a multicenter study using two mouse models of Rett syndrome and is safe in non-human primates.
Mol Ther
; 31(9): 2767-2782, 2023 09 06.
Article
in English
| MEDLINE | ID: mdl-37481701
2.
Infantile metastatic ependymoma with a novel molecular profile and favorable outcome to intensive chemotherapy without irradiation: Case-based review.
Genes Chromosomes Cancer
; 62(1): 39-46, 2023 01.
Article
in English
| MEDLINE | ID: mdl-35716171
3.
Detection of brain somatic variation in epilepsy-associated developmental lesions.
Epilepsia
; 63(8): 1981-1997, 2022 08.
Article
in English
| MEDLINE | ID: mdl-35687047
4.
PTEN somatic mutations contribute to spectrum of cerebral overgrowth.
Brain
; 144(10): 2971-2978, 2021 11 29.
Article
in English
| MEDLINE | ID: mdl-34048549
5.
Submucosal Nerve Diameter in the Rectum Increases With Age: An Important Consideration for the Diagnosis of Hirschsprung Disease.
Pediatr Dev Pathol
; 25(3): 263-269, 2022.
Article
in English
| MEDLINE | ID: mdl-34791945
6.
SPEG-deficient skeletal muscles exhibit abnormal triad and defective calcium handling.
Hum Mol Genet
; 27(9): 1608-1617, 2018 05 01.
Article
in English
| MEDLINE | ID: mdl-29474540
7.
Neuropathology of Mowat-Wilson Syndrome.
Pediatr Dev Pathol
; 23(4): 322-325, 2020 Aug.
Article
in English
| MEDLINE | ID: mdl-32252596
8.
Mentors' perspectives on the successes and challenges of mentoring in the COG Young Investigator mentorship program: A report from the Children's Oncology Group.
Pediatr Blood Cancer
; 66(10): e27920, 2019 10.
Article
in English
| MEDLINE | ID: mdl-31309744
9.
Long-term evidence that a pediatric oncology mentorship program for young investigators is feasible and beneficial in the cooperative group setting: A report from the Children's Oncology Group.
Pediatr Blood Cancer
; 65(3)2018 03.
Article
in English
| MEDLINE | ID: mdl-29193588
10.
Intraocular Medulloepithelioma: AIRP Best Cases in Radiologic-Pathologic Correlation.
Radiographics
; 38(1): 194-199, 2018.
Article
in English
| MEDLINE | ID: mdl-29320332
11.
Hepcidin, an Iron Regulatory Hormone of Innate Immunity, is Differentially Expressed in Premature Fetuses with Early-Onset Neonatal Sepsis.
Am J Perinatol
; 35(9): 865-872, 2018 07.
Article
in English
| MEDLINE | ID: mdl-29532452
12.
SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy.
Am J Hum Genet
; 95(2): 218-26, 2014 Aug 07.
Article
in English
| MEDLINE | ID: mdl-25087613
13.
Acanthamoeba granulomatous amoebic encephalitis after pediatric hematopoietic stem cell transplant.
Pediatr Transplant
; 21(8)2017 Dec.
Article
in English
| MEDLINE | ID: mdl-28921764
14.
Cerebellopontine angle tumors in young children, displaying cranial nerve deficits, and restricted diffusion on diffusion-weighted imaging: a new clinical triad for atypical teratoid/rhabdoid tumors.
Childs Nerv Syst
; 33(5): 833-838, 2017 May.
Article
in English
| MEDLINE | ID: mdl-28332155
15.
Characterization of MHC Class I and ß-2-Microglobulin Expression in Pediatric Solid Malignancies to Guide Selection of Immune-Based Therapeutic Trials.
Pediatr Blood Cancer
; 63(4): 618-26, 2016 Apr.
Article
in English
| MEDLINE | ID: mdl-26575538
16.
SHH desmoplastic/nodular medulloblastoma and Gorlin syndrome in the setting of Down syndrome: case report, molecular profiling, and review of the literature.
Childs Nerv Syst
; 32(12): 2439-2446, 2016 Dec.
Article
in English
| MEDLINE | ID: mdl-27444290
17.
Enzyme replacement therapy rescues weakness and improves muscle pathology in mice with X-linked myotubular myopathy.
Hum Mol Genet
; 22(8): 1525-38, 2013 Apr 15.
Article
in English
| MEDLINE | ID: mdl-23307925
18.
Differential muscle hypertrophy is associated with satellite cell numbers and Akt pathway activation following activin type IIB receptor inhibition in Mtm1 p.R69C mice.
Am J Pathol
; 184(6): 1831-42, 2014 Jun.
Article
in English
| MEDLINE | ID: mdl-24726641
19.
A multi-resolution textural approach to diagnostic neuropathology reporting.
J Neurooncol
; 124(3): 393-402, 2015 Sep.
Article
in English
| MEDLINE | ID: mdl-26255070
20.
Modeling the human MTM1 p.R69C mutation in murine Mtm1 results in exon 4 skipping and a less severe myotubular myopathy phenotype.
Hum Mol Genet
; 21(4): 811-25, 2012 Feb 15.
Article
in English
| MEDLINE | ID: mdl-22068590