Detalhe da pesquisa
1.
Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis.
Am J Hum Genet
; 110(4): 663-680, 2023 04 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36965478
2.
GM1 Gangliosidosis Type II: Results of a 10-Year Prospective Study.
Genet Med
; : 101144, 2024 Apr 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38641994
3.
Risks and benefits of anesthesia for combined pediatric procedures in the NIH undiagnosed diseases program.
Mol Genet Metab
; 140(3): 107707, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37883914
4.
Glb1 knockout mouse model shares natural history with type II GM1 gangliosidosis patients.
Mol Genet Metab
; 138(2): 107508, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36709532
5.
Neurofibromatosis Type 1 Implicates Ras Pathways in the Genetic Architecture of Neurodevelopmental Disorders.
Behav Genet
; 50(4): 191-202, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32026187
6.
An executive functioning perspective in neurofibromatosis type 1: from ADHD and autism spectrum disorder to research domains.
Childs Nerv Syst
; 36(10): 2321-2332, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32617712
7.
Autism-associated Nf1 deficiency disrupts corticocortical and corticostriatal functional connectivity in human and mouse.
Neurobiol Dis
; 130: 104479, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31128207
8.
Breast cancer risk and germline genomic profiling of women with neurofibromatosis type 1 who developed breast cancer.
Genes Chromosomes Cancer
; 57(1): 19-27, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28891274
9.
Young adult outcomes in the follow-up of the multimodal treatment study of attention-deficit/hyperactivity disorder: symptom persistence, source discrepancy, and height suppression.
J Child Psychol Psychiatry
; 58(6): 663-678, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28295312
10.
Autism in neurofibromatosis type 1: misuse of covariance to dismiss autistic trait burden.
Dev Med Child Neurol
; 63(2): 233-234, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32815557
11.
CTF meeting 2012: Translation of the basic understanding of the biology and genetics of NF1, NF2, and schwannomatosis toward the development of effective therapies.
Am J Med Genet A
; 164A(3): 563-78, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24443315
12.
Ensuring Stakeholder Feedback in the Design and Conduct of Clinical Trials for Rare Diseases: ISCTM Position Paper of the Orphan Disease Working Group.
Innov Clin Neurosci
; 21(1-3): 52-60, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38495603
13.
Methods for Neuroscience Drug Development: Guidance on Standardization of the Process for Defining Clinical Outcome Strategies in Clinical Trials.
Eur Neuropsychopharmacol
; 83: 32-42, 2024 Apr 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38579661
14.
Symptomatology of autism spectrum disorder in a population with neurofibromatosis type 1.
Dev Med Child Neurol
; 55(2): 131-138, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23163951
15.
Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment.
NPJ Genom Med
; 8(1): 4, 2023 Feb 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36765070
16.
Neurofibromatosis 2011: a report of the Children's Tumor Foundation annual meeting.
Acta Neuropathol
; 123(3): 369-80, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22083253
17.
The Learning Disabilities Network (LeaDNet): using neurofibromatosis type 1 (NF1) as a paradigm for translational research.
Am J Med Genet A
; 158A(9): 2225-32, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22821737
18.
Mental, motor, and language development of toddlers with neurofibromatosis type 1.
J Pediatr
; 158(4): 660-5, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21094952
19.
Back to the future: proceedings from the 2010 NF Conference.
Am J Med Genet A
; 155A(2): 307-21, 2011 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-21271647
20.
Neural Plasticity in Obesity and Psychiatric Disorders.
Neural Plast
; 2016: 6053871, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27144034