Detalhe da pesquisa
1.
Virtual multi-institutional tumor board: a strategy for personalized diagnoses and management of rare CNS tumors.
J Neurooncol
; 167(2): 349-359, 2024 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-38427131
2.
Genomic analysis, immunomodulation and deep phenotyping of patients with nodding syndrome.
Brain
; 146(3): 968-976, 2023 03 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36181424
3.
Brain proton MR spectroscopy measurements in CLN3 disease.
Mol Genet Metab
; 139(1): 107584, 2023 05.
Artigo
Inglês
| MEDLINE | ID: mdl-37086568
4.
Risks and benefits of anesthesia for combined pediatric procedures in the NIH undiagnosed diseases program.
Mol Genet Metab
; 140(3): 107707, 2023 11.
Artigo
Inglês
| MEDLINE | ID: mdl-37883914
5.
Immunotherapy responsive neuroinflammation in a child with FAS-associated death-domain mutation.
Clin Genet
; 103(2): 252-253, 2023 02.
Artigo
Inglês
| MEDLINE | ID: mdl-36254101
6.
Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome.
Ann Rheum Dis
; 81(10): 1453-1464, 2022 10.
Artigo
Inglês
| MEDLINE | ID: mdl-35868845
7.
Early-Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST.
Mov Disord
; 37(12): 2440-2446, 2022 12.
Artigo
Inglês
| MEDLINE | ID: mdl-36103453
8.
Use of the Vineland-3, a measure of adaptive functioning, in CLN3.
Am J Med Genet A
; 188(4): 1056-1064, 2022 04.
Artigo
Inglês
| MEDLINE | ID: mdl-34913584
9.
Diagnosis and discovery: Insights from the NIH Undiagnosed Diseases Program.
J Inherit Metab Dis
; 45(5): 907-918, 2022 09.
Artigo
Inglês
| MEDLINE | ID: mdl-35490291
10.
Neurofilament light chain levels correlate with clinical measures in CLN3 disease.
Genet Med
; 23(4): 751-757, 2021 04.
Artigo
Inglês
| MEDLINE | ID: mdl-33239751
11.
Functional analysis of a de novo variant in the neurodevelopment and generalized epilepsy disease gene NBEA.
Mol Genet Metab
; 134(1-2): 195-202, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-34412939
12.
Characterizing upper limb function in the context of activities of daily living in CLN3 disease.
Am J Med Genet A
; 185(5): 1399-1413, 2021 05.
Artigo
Inglês
| MEDLINE | ID: mdl-33559393
13.
Adult diagnosis of congenital serine biosynthesis defect: A treatable cause of progressive neuropathy.
Am J Med Genet A
; 185(7): 2102-2107, 2021 07.
Artigo
Inglês
| MEDLINE | ID: mdl-34089226
14.
FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability.
Epilepsia
; 62(1): e13-e21, 2021 01.
Artigo
Inglês
| MEDLINE | ID: mdl-33280099
15.
Seizure phenotype in CLN3 disease and its relation to other neurologic outcome measures.
J Inherit Metab Dis
; 44(4): 1013-1020, 2021 07.
Artigo
Inglês
| MEDLINE | ID: mdl-33550636
16.
Outcomes measures in children after acute central nervous system infections and malaria.
Curr Opin Pediatr
; 31(6): 756-762, 2019 12.
Artigo
Inglês
| MEDLINE | ID: mdl-31693584
17.
Intrathecal 2-hydroxypropyl-ß-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1-2 trial.
Lancet
; 390(10104): 1758-1768, 2017 Oct 14.
Artigo
Inglês
| MEDLINE | ID: mdl-28803710
18.
Treatment Strategies for Deficiency of Adenosine Deaminase 2.
N Engl J Med
; 380(16): 1582-1584, 2019 04 18.
Artigo
Inglês
| MEDLINE | ID: mdl-30995379
19.
Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center.
Genet Med
; 19(8): 875-882, 2017 08.
Artigo
Inglês
| MEDLINE | ID: mdl-28125082
20.
Cover Image, Volume 173A, Number 12, December 2017.
Am J Med Genet A
; 173(12): i, 2017 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-29136352