Detalhe da pesquisa
1.
Safety and tolerability of intravenous immunoglobulin infusion in Down syndrome regression disorder.
Am J Med Genet A
; 194(5): e63524, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38169137
2.
Perspectives of adolescents with neurofibromatosis 1 and cutaneous neurofibromas: Implications for clinical trials.
Clin Trials
; 21(1): 67-72, 2024 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37269078
3.
Perspectives of adults with neurofibromatosis regarding the design of psychosocial trials: Results from an anonymous online survey.
Clin Trials
; 21(1): 73-84, 2024 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37962219
4.
Recommendations for assessing appearance concerns related to plexiform and cutaneous neurofibromas in neurofibromatosis 1 clinical trials.
Clin Trials
; 21(1): 6-17, 2024 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38140900
5.
Consensus-Based Best Practice Guidelines for the Management of Spinal Deformity and Associated Tumors in Pediatric Neurofibromatosis Type 1: Screening and Surveillance, Surgical Intervention, and Medical Therapy.
J Pediatr Orthop
; 43(7): e531-e537, 2023 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37253707
6.
Impact of the coronavirus pandemic on mental health and health care in adults with neurofibromatosis: Patient perspectives from an online survey.
Am J Med Genet A
; 188(1): 71-82, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34536052
7.
The Use of MEK Inhibitors in Neurofibromatosis Type 1-Associated Tumors and Management of Toxicities.
Oncologist
; 25(7): e1109-e1116, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32272491
8.
Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity.
Am J Hum Genet
; 92(5): 774-80, 2013 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-23643384
9.
Resting state functional MRI reveals abnormal network connectivity in neurofibromatosis 1.
Hum Brain Mapp
; 36(11): 4566-81, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26304096
10.
Autism traits in the RASopathies.
J Med Genet
; 51(1): 10-20, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24101678
11.
Magnetic resonance spectroscopy markers of axons and astrogliosis in relation to specific features of white matter injury in preterm infants.
Neuroradiology
; 56(9): 771-9, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24903580
12.
A Case of Pediatric Guillain-Barré Syndrome After Respiratory Syncytial Virus Infection.
Pediatr Neurol
; 146: 129-131, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37481934
13.
Dilated cardiomyopathy in a patient with autosomal dominant EEF1A2-related neurodevelopmental disorder.
Eur J Med Genet
; 64(1): 104121, 2021 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-33307280
14.
Perspective of Adults With Neurofibromatosis 1 and Cutaneous Neurofibromas: Implications for Clinical Trials.
Neurology
; 97(7 Suppl 1): S15-S24, 2021 08 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-34230202
15.
Recommendations for Social Skills End Points for Clinical Trials in Neurofibromatosis Type 1.
Neurology
; 97(7 Suppl 1): S73-S80, 2021 08 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-34230205
16.
Cognition, ADHD Symptoms, and Functional Impairment in Children and Adolescents With Neurofibromatosis Type 1.
J Atten Disord
; 25(8): 1177-1186, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31838937
17.
Cabozantinib for neurofibromatosis type 1-related plexiform neurofibromas: a phase 2 trial.
Nat Med
; 27(1): 165-173, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33442015
18.
Update from the 2013 International Neurofibromatosis Conference.
Am J Med Genet A
; 164A(12): 2969-78, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25255738
19.
Reduced higher dimensional temporal dynamism in neurofibromatosis type 1.
Neuroimage Clin
; 22: 101692, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30710873
20.
Multicenter, Prospective, Phase II and Biomarker Study of High-Dose Bevacizumab as Induction Therapy in Patients With Neurofibromatosis Type 2 and Progressive Vestibular Schwannoma.
J Clin Oncol
; 37(35): 3446-3454, 2019 12 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31626572