Detalhe da pesquisa
1.
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.
Brain
; 146(8): 3273-3288, 2023 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36757831
2.
Diagnostic workup in children with arthrogryposis: description of practices from a single reference centre, comparison with literature and suggestion of recommendations.
J Med Genet
; 60(1): 13-24, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34876503
3.
Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis.
Am J Hum Genet
; 107(2): 293-310, 2020 08 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32707087
4.
Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores.
Am J Hum Genet
; 107(6): 1078-1095, 2020 12 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33217308
5.
NGS-driven molecular diagnosis of heterogeneous hereditary neurological disorders reveals novel and known variants in disease-causing genes.
Mol Genet Genomics
; 297(6): 1601-1613, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-36002593
6.
Clinical phenotype and loss of the slow skeletal muscle troponin T in three new patients with recessive TNNT1 nemaline myopathy.
J Med Genet
; 58(9): 602-608, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32994279
7.
Role of oculocerebrorenal syndrome of Lowe (OCRL) protein in megakaryocyte maturation, platelet production and functions: a study in patients with Lowe syndrome.
Br J Haematol
; 192(5): 909-921, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33528045
8.
Interplay between Triadin and Calsequestrin in the Pathogenesis of CPVT in the Mouse.
Mol Ther
; 28(1): 171-179, 2020 01 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31607542
9.
TRPV1 variants impair intracellular Ca2+ signaling and may confer susceptibility to malignant hyperthermia.
Genet Med
; 21(2): 441-450, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29930394
10.
STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility.
Hum Mutat
; 39(12): 1980-1994, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30168660
11.
The transcription coactivator ASC-1 is a regulator of skeletal myogenesis, and its deficiency causes a novel form of congenital muscle disease.
Hum Mol Genet
; 25(8): 1559-73, 2016 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27008887
12.
Response to Hall et al.
Am J Hum Genet
; 107(6): 1188-1189, 2020 12 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33275912
13.
Triadin and CLIMP-63 form a link between triads and microtubules in muscle cells.
J Cell Sci
; 129(20): 3744-3755, 2016 10 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27562070
14.
"Lowe syndrome: A particularly severe phenotype without clinical kidney involvement".
Am J Med Genet A
; 176(2): 460-464, 2018 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-29226564
15.
Functional Characterization and Rescue of a Deep Intronic Mutation in OCRL Gene Responsible for Lowe Syndrome.
Hum Mutat
; 38(2): 152-159, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27790796
16.
OCRL-mutated fibroblasts from patients with Dent-2 disease exhibit INPP5B-independent phenotypic variability relatively to Lowe syndrome cells.
Hum Mol Genet
; 24(4): 994-1006, 2015 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25305077
17.
Phospholipase A2 Receptor-Related Membranous Nephropathy and Mannan-Binding Lectin Deficiency.
J Am Soc Nephrol
; 27(12): 3539-3544, 2016 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-27153925
18.
The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis.
Hum Mol Genet
; 22(8): 1483-92, 2013 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23236030
19.
Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations.
Brain
; 137(Pt 12): 3160-70, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25260562
20.
Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human.
Hum Mol Genet
; 21(12): 2759-67, 2012 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22422768