Detalhe da pesquisa
1.
Integrating Whole-Genome Sequencing in Clinical Genetics: A Novel Disruptive Structural Rearrangement Identified in the Dystrophin Gene (DMD).
Int J Mol Sci
; 23(1)2021 Dec 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-35008485
2.
LAMA2 gene mutation update: Toward a more comprehensive picture of the laminin-α2 variome and its related phenotypes.
Hum Mutat
; 39(10): 1314-1337, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30055037
3.
New massive parallel sequencing approach improves the genetic characterization of congenital myopathies.
J Hum Genet
; 61(6): 497-505, 2016 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-26841830
4.
X-Linked Myotubular Myopathy: A Novel Mutation Expanding the Genotypic Spectrum of a Phenotypically Heterogeneous Myopathy.
J Pediatr Genet
; 12(3): 258-262, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37575650
5.
Mammalian Pex14p: membrane topology and characterisation of the Pex14p-Pex14p interaction.
Biochim Biophys Acta
; 1567(1-2): 13-22, 2002 Dec 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-12488033
6.
Haplotype analysis of newly diagnosed Portuguese and Brazilian families with fibrinogen amyloidosis caused by the FGA p.Glu545Val variant.
Amyloid
; 26(sup1): 144-145, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31343282
7.
Short-term complications after renal transplantation in AFibE526V (p.Glu545Val) amyloidosis.
Amyloid
; 26(sup1): 162-163, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31343301
8.
Reviewing Large LAMA2 Deletions and Duplications in Congenital Muscular Dystrophy Patients.
J Neuromuscul Dis
; 1(2): 169-179, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-27858771
9.
Atypical phenotype in two patients with LAMA2 mutations.
Neuromuscul Disord
; 24(5): 419-24, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24534542
10.
Expanding the MTM1 mutational spectrum: novel variants including the first multi-exonic duplication and development of a locus-specific database.
Eur J Hum Genet
; 21(5): 540-9, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22968136
11.
Characterization of the peroxisomal cycling receptor Pex5p import pathway.
Adv Exp Med Biol
; 544: 219-20, 2003.
Artigo
em Inglês
| MEDLINE | ID: mdl-14713232
12.
The import competence of a peroxisomal membrane protein is determined by Pex19p before the docking step.
J Biol Chem
; 281(45): 34492-502, 2006 Nov 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-16980692
13.
Protein translocation across the peroxisomal membrane.
Cell Biochem Biophys
; 41(3): 451-68, 2004.
Artigo
em Inglês
| MEDLINE | ID: mdl-15509892
14.
Characterization of the peroxisomal cycling receptor, Pex5p, using a cell-free in vitro import system.
J Biol Chem
; 278(1): 226-32, 2003 Jan 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-12411433
15.
The energetics of Pex5p-mediated peroxisomal protein import.
J Biol Chem
; 278(41): 39483-8, 2003 Oct 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-12885776
16.
Insertion of Pex5p into the peroxisomal membrane is cargo protein-dependent.
J Biol Chem
; 278(7): 4389-92, 2003 Feb 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-12502712