Detalhe da pesquisa
1.
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.
Am J Hum Genet
; 108(5): 857-873, 2021 05 06.
Artigo
Inglês
| MEDLINE | ID: mdl-33961779
2.
16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy.
Hum Mol Genet
; 23(22): 6069-80, 2014 Nov 15.
Artigo
Inglês
| MEDLINE | ID: mdl-24939913
3.
Rare variants in γ-aminobutyric acid type A receptor genes in rolandic epilepsy and related syndromes.
Ann Neurol
; 77(6): 972-86, 2015 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-25726841
4.
Antibodies to MOG and AQP4 in children with neuromyelitis optica and limited forms of the disease.
J Neurol Neurosurg Psychiatry
; 87(8): 897-905, 2016 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-26645082
5.
Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin.
Am J Hum Genet
; 90(1): 61-8, 2012 Jan 13.
Artigo
Inglês
| MEDLINE | ID: mdl-22243965
6.
Analysis of ELP4, SRPX2, and interacting genes in typical and atypical rolandic epilepsy.
Epilepsia
; 55(8): e89-93, 2014 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-24995671
7.
Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A.
Brain
; 136(Pt 10): 3140-50, 2013 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-24014518
8.
Left ventricular hypertrabeculation/noncompaction with epilepsy, other heart defects, minor facial anomalies and new copy number variants.
BMC Med Genet
; 13: 60, 2012 Jul 25.
Artigo
Inglês
| MEDLINE | ID: mdl-22830313
9.
Temporal Dynamics of MOG Antibodies in Children With Acquired Demyelinating Syndrome.
Neurol Neuroimmunol Neuroinflamm
; 9(6)2022 11.
Artigo
Inglês
| MEDLINE | ID: mdl-36229191
10.
New mutations in the ATM gene and clinical data of 25 AT patients.
Neurogenetics
; 12(4): 273-82, 2011 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-21965147
11.
Treatment with Nusinersen - Challenges Regarding the Indication for Children with SMA Type 1.
J Neuromuscul Dis
; 7(1): 41-46, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-31744015
12.
Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy.
Eur J Hum Genet
; 26(2): 258-264, 2018 02.
Artigo
Inglês
| MEDLINE | ID: mdl-29358611
13.
Autoimmune phenotype with type I interferon signature in two brothers with ADA2 deficiency carrying a novel CECR1 mutation.
Pediatr Rheumatol Online J
; 15(1): 67, 2017 Aug 22.
Artigo
Inglês
| MEDLINE | ID: mdl-28830446
14.
Prognostic relevance of MOG antibodies in children with an acquired demyelinating syndrome.
Neurology
; 89(9): 900-908, 2017 Aug 29.
Artigo
Inglês
| MEDLINE | ID: mdl-28768844
15.
Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes.
PLoS One
; 11(3): e0150426, 2016.
Artigo
Inglês
| MEDLINE | ID: mdl-26990884
16.
Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1.
J Neurol
; 262(9): 2124-34, 2015 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-26100331
17.
Functional variant in complement C3 gene promoter and genetic susceptibility to temporal lobe epilepsy and febrile seizures.
PLoS One
; 5(9)2010 Sep 16.
Artigo
Inglês
| MEDLINE | ID: mdl-20862287
18.
Tick-borne encephalitis in Styrian children from 1981 to 2005: a retrospective study and a review of the literature.
Acta Paediatr
; 97(5): 535-8, 2008 May.
Artigo
Inglês
| MEDLINE | ID: mdl-18394095