Detalhe da pesquisa
1.
Interstitial microdeletions of 3q26.2q26.31 in two patients with neurodevelopmental delay and distinctive features.
Am J Med Genet A
; 191(2): 400-407, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36345653
2.
Behavioral problems and family distress in tuberous sclerosis complex.
Epilepsy Behav
; 111: 107321, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32698109
3.
De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy.
Am J Hum Genet
; 93(3): 496-505, 2013 Sep 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-23993195
4.
De novo KCNT1 mutations in early-onset epileptic encephalopathy.
Epilepsia
; 56(9): e121-8, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26140313
5.
[Evaluation of surgical treatment for intractable aspiration in neurologically impaired patients: our experience with 20 patients].
No To Hattatsu
; 47(6): 439-44, 2015 Nov.
Artigo
em Japonês
| MEDLINE | ID: mdl-26717645
6.
Severe pediatric acute encephalopathy syndromes related to SARS-CoV-2.
Front Neurosci
; 17: 1085082, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36922927
7.
Respiratory syncytial virus-associated encephalopathy complicated by congenital myopathy.
Pediatr Int
; 54(5): 709-11, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23005904
8.
Serum and cerebrospinal fluid S100B, neuron-specific enolase, and total tau protein in acute encephalopathy with biphasic seizures and late reduced diffusion: a diagnostic validity.
Pediatr Int
; 54(1): 52-5, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-21883688
9.
Interstitial deletions in the proximal regions of 6q: 12 original cases and a literature review.
Intractable Rare Dis Res
; 11(3): 143-148, 2022 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-36200032
10.
Acute encephalopathy with biphasic seizures and late reduced diffusion; posterior frontal hyperperfusion before late seizures revealed by arterial spin labeling: A case report.
Brain Dev
; 43(6): 714-718, 2021 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-33663993
11.
Acute encephalopathy in children with tuberous sclerosis complex.
Orphanet J Rare Dis
; 16(1): 5, 2021 01 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33407677
12.
Various types of LRP5 mutations in four patients with osteoporosis-pseudoglioma syndrome: identification of a 7.2-kb microdeletion using oligonucleotide tiling microarray.
Am J Med Genet A
; 152A(1): 133-40, 2010 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-20034086
13.
A case of pyridoxine-dependent epilepsy with novel ALDH7A1 mutations.
Oxf Med Case Reports
; 2020(3): omaa008, 2020 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-32395249
14.
A patient with early onset Huntington disease and severe cerebellar atrophy.
Am J Med Genet A
; 149A(4): 598-601, 2009 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-19253382
15.
Another case of respiratory syncytial virus-related limbic encephalitis.
Neuroradiology
; 56(5): 435-6, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24652531
16.
Sweet Potato Was Not So Sweet: Undetected Foreign-body Aspiration in a Healthy Child Leading to Acute Bronchial Asthma.
Tokai J Exp Clin Med
; 44(1): 1-4, 2019 Apr 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-30963521
17.
Rhinovirus-associated acute encephalitis/encephalopathy and cerebellitis.
Brain Dev
; 41(6): 551-554, 2019 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-30850156
18.
Thermolabile polymorphism of carnitine palmitoyltransferase 2: A genetic risk factor of overall acute encephalopathy.
Brain Dev
; 41(10): 862-869, 2019 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-31351739
19.
De novo variants in CAMK2A and CAMK2B cause neurodevelopmental disorders.
Ann Clin Transl Neurol
; 5(3): 280-296, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29560374
20.
Acute cerebellar ataxia and consecutive cerebellitis produced by glutamate receptor delta2 autoantibody.
Brain Dev
; 29(4): 254-6, 2007 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-17049194