Detalhe da pesquisa
1.
Expanding the genetic and phenotypic spectrum of congenital myasthenic syndrome: new homozygous VAMP1 splicing variants in 2 novel individuals.
J Hum Genet
; 69(5): 187-196, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38355957
2.
A novel de novo variant in CASK causes a severe neurodevelopmental disorder that masks the phenotype of a novel de novo variant in EEF2.
J Hum Genet
; 68(8): 543-550, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37072624
3.
First splicing variant in HECW2 with an autosomal recessive pattern of inheritance and associated with NDHSAL.
Hum Mutat
; 43(10): 1361-1367, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35753050
4.
Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment.
Am J Hum Genet
; 104(4): 721-730, 2019 04 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30929742
5.
MLIP causes recessive myopathy with rhabdomyolysis, myalgia and baseline elevated serum creatine kinase.
Brain
; 144(9): 2722-2731, 2021 10 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-34581780
6.
Characterization of a complex phenotype (fever-dependent recurrent acute liver failure and osteogenesis imperfecta) due to NBAS and P4HB variants.
Mol Genet Metab
; 133(2): 201-210, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33707149
7.
Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis.
Hum Genet
; 139(11): 1443-1454, 2020 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-32514796
8.
MAST1 variant causes mega-corpus-callosum syndrome with cortical malformations but without cerebellar hypoplasia.
Am J Med Genet A
; 182(6): 1483-1490, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32198973
9.
Mitochondrial involvement in a Bosch-Boonstra-Schaaf optic atrophy syndrome patient with a novel de novo NR2F1 gene mutation.
J Hum Genet
; 63(4): 525-528, 2018 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-29410510
10.
Correction: A novel de novo variant in CASK causes a severe neurodevelopmental disorder that masks the phenotype of a novel de novo variant in EEF2.
J Hum Genet
; 68(8): 577, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37237142
11.
A rare male patient with Fontaine progeroid syndrome caused by p.R217H de novo mutation in SLC25A24.
Am J Med Genet A
; 176(11): 2479-2486, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30329211
12.
An innovative strategy to clone positive modifier genes of defects caused by mtDNA mutations: MRPS18C as suppressor gene of m.3946G>A mutation in MT-ND1 gene.
Hum Genet
; 136(7): 885-896, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28526948
13.
First missense mutation outside of SERAC1 lipase domain affecting intracellular cholesterol trafficking.
Neurogenetics
; 17(1): 51-6, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26445863
14.
New ATP8A2 gene mutations associated with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy.
Neurogenetics
; 17(4): 259-263, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27679995
15.
Whole-exome sequencing identifies a variant of the mitochondrial MT-ND1 gene associated with epileptic encephalopathy: west syndrome evolving to Lennox-Gastaut syndrome.
Hum Mutat
; 34(12): 1623-7, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24105702
16.
Muscle-specific overexpression of the catalytic subunit of DNA polymerase γ induces pupal lethality in Drosophila melanogaster.
Arch Insect Biochem Physiol
; 83(3): 127-37, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23729397
17.
A new mutation in the gene encoding mitochondrial seryl-tRNA synthetase as a cause of HUPRA syndrome.
BMC Nephrol
; 14: 195, 2013 Sep 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-24034276
18.
New subtype of PCH1C caused by novel EXOSC8 variants in a 16-year-old Spanish patient.
Neuromuscul Disord
; 31(8): 773-782, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34210538
19.
A novel de novo mutation in the PURA gene associated with a new clinical finding: large brainstem.
J Genet
; 992020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32089526
20.
Functional characterization of ribosomal P1/P2 proteins in human cells.
Biochem J
; 413(3): 527-34, 2008 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-18422483