Detalhe da pesquisa
1.
Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.
Brain
; 143(8): 2437-2453, 2020 08 01.
Artigo
Inglês
| MEDLINE | ID: mdl-32761064
2.
Identification of Brain-Specific Treatment Effects in NPC1 Disease by Focusing on Cellular and Molecular Changes of Sphingosine-1-Phosphate Metabolism.
Int J Mol Sci
; 21(12)2020 Jun 24.
Artigo
Inglês
| MEDLINE | ID: mdl-32599915
3.
Novel mutations in the GJC2 gene associated with Pelizaeus-Merzbacher-like disease.
Mol Biol Rep
; 46(4): 4507-4516, 2019 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-31270756
4.
Nocturnal frontal lobe epilepsy caused by a mutation in the GATOR1 complex gene NPRL3.
Epilepsia
; 57(3): e60-3, 2016 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-26786403
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.
Horizontal head titubation in infants with Joubert syndrome: a new finding.
Dev Med Child Neurol
; 56(10): 1016-20, 2014 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-24814865
7.
Molecular and biochemical characterization of a unique mutation in CCS, the human copper chaperone to superoxide dismutase.
Hum Mutat
; 33(8): 1207-15, 2012 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-22508683
8.
Hyperphosphatasia-mental retardation syndrome due to PIGV mutations: expanded clinical spectrum.
Am J Med Genet A
; 155A(8): 1917-22, 2011 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-21739589
9.
A Novel de novo Frameshift Mutation in the BCL11A Gene in a Patient with Intellectual Disability Syndrome and Epilepsy.
Mol Syndromol
; 11(3): 135-140, 2020 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-32903878
10.
Rare variants in the GABAA receptor subunit ε identified in patients with a wide spectrum of epileptic phenotypes.
Mol Genet Genomic Med
; 8(9): e1388, 2020 09.
Artigo
Inglês
| MEDLINE | ID: mdl-32588540
11.
HACE1 deficiency leads to structural and functional neurodevelopmental defects.
Neurol Genet
; 5(3): e330, 2019 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-31321300
12.
Novel DCC variants in congenital mirror movements and evaluation of disease-associated missense variants.
Eur J Med Genet
; 61(6): 329-334, 2018 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-29366874
13.
Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9.
Eur J Hum Genet
; 26(5): 695-708, 2018 05.
Artigo
Inglês
| MEDLINE | ID: mdl-29463858
14.
Acute Liver Failure Meets SOPH Syndrome: A Case Report on an Intermediate Phenotype.
Pediatrics
; 139(1)2017 01.
Artigo
Inglês
| MEDLINE | ID: mdl-28031453
15.
Identification of a novel CDKL5 exon and pathogenic mutations in patients with severe mental retardation, early-onset seizures and Rett-like features.
Neurogenetics
; 12(2): 165-7, 2011 May.
Artigo
Inglês
| MEDLINE | ID: mdl-21318334
16.
Novel mutations in BCOR in three patients with oculo-facio-cardio-dental syndrome, but none in Lenz microphthalmia syndrome.
Eur J Hum Genet
; 13(5): 563-9, 2005 May.
Artigo
Inglês
| MEDLINE | ID: mdl-15770227
17.
Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome.
Nat Genet
; 47(6): 661-7, 2015 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-25915598
18.
Pontocerebellar hypoplasia type 2 and TSEN2: review of the literature and two novel mutations.
Eur J Med Genet
; 56(6): 325-30, 2013 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-23562994
19.
Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics.
J Clin Invest
; 121(7): 2662-7, 2011 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-21633164
20.
Role of leukotrienes as indicators of the inflammatory demyelinating reaction in x-linked cerebral adrenoleukodystrophy.
J Neurol
; 250(10): 1259-60, 2003 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-14586618