Detalhe da pesquisa
1.
Early and Aggressive Treatment May Modify Anti-Hu Associated Encephalitis Prognosis.
Neuropediatrics
; 54(1): 64-67, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35817357
2.
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita.
J Med Genet
; 59(6): 559-567, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33820833
3.
Fatigue, depression, and quality of life in children with multiple sclerosis: a comparative study with other demyelinating diseases.
Dev Med Child Neurol
; 62(2): 241-244, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30977123
4.
Functional classification of ATM variants in ataxia-telangiectasia patients.
Hum Mutat
; 40(10): 1713-1730, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31050087
5.
De novo mutations in CBL causing early-onset paediatric moyamoya angiopathy.
J Med Genet
; 54(8): 550-557, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28343148
6.
Regional Pediatric Acute Stroke Protocol: Initial Experience During 3 Years and 13 Recanalization Treatments in Children.
Stroke
; 48(8): 2278-2281, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28546326
7.
Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.
Hum Mol Genet
; 23(9): 2279-89, 2014 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24319099
8.
Adult-onset genetic leukoencephalopathies: a MRI pattern-based approach in a comprehensive study of 154 patients.
Brain
; 138(Pt 2): 284-92, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25527826
9.
Extracranial vertebral artery dissection in children: natural history and management.
Neuroradiology
; 57(7): 729-38, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25845811
10.
Recanalization Treatments for Pediatric Acute Ischemic Stroke in France.
JAMA Netw Open
; 5(9): e2231343, 2022 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36107427
11.
Long-Term Follow-Up of Hematopoietic Stem-Cell Gene Therapy for Cerebral Adrenoleukodystrophy.
Hum Gene Ther
; 32(19-20): 1260-1269, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33789438
12.
Epidemiology, Clinical Features, and Outcome in a Cohort of Adolescents With Cerebral Venous Thrombosis.
Neurology
; 97(19): e1920-e1932, 2021 11 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34544816
13.
Mild Encephalitis/Encephalopathy with reversible splenial lesion syndrome: An unusual presentation of anti-GFAP astrocytopathy.
Eur J Paediatr Neurol
; 26: 89-91, 2020 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-32340854
14.
Acute ischemic stroke in adolescents.
Neurology
; 94(2): e158-e169, 2020 01 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-31831601
15.
Liver transplantation as a rescue therapy for severe neurologic forms of Wilson disease.
Neurology
; 94(21): e2189-e2202, 2020 05 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-32398357
16.
Hematopoietic stem cell gene therapy with a lentiviral vector in X-linked adrenoleukodystrophy.
Science
; 326(5954): 818-23, 2009 Nov 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-19892975
17.
Adult-onset cerebral X-linked adrenoleukodystrophy with major contrast-enhancement mimicking acquired disease.
Clin Neurol Neurosurg
; 115(9): 1906-7, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23751194