Detalhe da pesquisa
1.
Neurodevelopmental and synaptic defects in DNAJC6 parkinsonism, amenable to gene therapy.
Brain
; 147(6): 2023-2037, 2024 Jun 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38242634
2.
Neurodevelopmental disorder mutations in the purine biosynthetic enzyme IMPDH2 disrupt its allosteric regulation.
J Biol Chem
; 299(8): 105012, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37414152
3.
Unbiased phenotype and genotype matching maximizes gene discovery and diagnostic yield.
Genet Med
; 26(4): 101068, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38193396
4.
SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia.
Brain
; 146(4): 1420-1435, 2023 04 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-36718090
5.
Infantile SOD1 deficiency syndrome caused by a homozygous SOD1 variant with absence of enzyme activity.
Brain
; 145(3): 872-878, 2022 04 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-34788402
6.
Heterozygous RNF13 Gain-of-Function Variants Are Associated with Congenital Microcephaly, Epileptic Encephalopathy, Blindness, and Failure to Thrive.
Am J Hum Genet
; 104(1): 179-185, 2019 01 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30595371
7.
Pathogenic Variants in NUP214 Cause "Plugged" Nuclear Pore Channels and Acute Febrile Encephalopathy.
Am J Hum Genet
; 105(1): 48-64, 2019 07 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31178128
8.
Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in Childhood.
Am J Hum Genet
; 101(2): 267-273, 2017 Aug 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28777933
9.
Mutations in TRAPPC12 Manifest in Progressive Childhood Encephalopathy and Golgi Dysfunction.
Am J Hum Genet
; 101(2): 291-299, 2017 Aug 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28777934
10.
Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination.
Brain
; 142(10): 2948-2964, 2019 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31501903
11.
Homozygous frameshift variant in NTNG2, encoding a synaptic cell adhesion molecule, in individuals with developmental delay, hypotonia, and autistic features.
Neurogenetics
; 20(4): 209-213, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31372774
12.
A homozygous deleterious CDK10 mutation in a patient with agenesis of corpus callosum, retinopathy, and deafness.
Am J Med Genet A
; 176(1): 92-98, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29130579
13.
Further delineation of the clinical spectrum of de novo TRIM8 truncating mutations.
Am J Med Genet A
; 176(11): 2470-2478, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30244534
14.
Mutations in the phosphatidylinositol glycan C (PIGC) gene are associated with epilepsy and intellectual disability.
J Med Genet
; 54(3): 196-201, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27694521
15.
[EXOME ANALYSIS - A GAME CHANGER IN PEDIATRICS].
Harefuah
; 157(3): 188-191, 2018 Mar.
Artigo
em Hebraico
| MEDLINE | ID: mdl-29582952
16.
Hypomyelinating leukodystrophy associated with a deleterious mutation in the ATRN gene.
Neurogenetics
; 18(3): 135-139, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28493104
17.
Therapy with eculizumab for patients with CD59 p.Cys89Tyr mutation.
Ann Neurol
; 80(5): 708-717, 2016 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-27568864
18.
Magnetic resonance imaging spectrum of succinate dehydrogenase-related infantile leukoencephalopathy.
Ann Neurol
; 79(3): 379-86, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26642834
19.
Mutation-specific effects on thin filament length in thin filament myopathy.
Ann Neurol
; 79(6): 959-69, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27074222
20.
Deficiency of HTRA2/Omi is associated with infantile neurodegeneration and 3-methylglutaconic aciduria.
J Med Genet
; 53(10): 690-6, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27208207