Detalhe da pesquisa
1.
Connective tissue presentation in two families expands the phenotypic spectrum of PYROXD1 disorders.
Hum Mol Genet
; 32(12): 2084-2092, 2023 06 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36920481
2.
Compound heterozygous splicing variants expand the genotypic spectrum of EMC1-related disorders.
Clin Genet
; 103(5): 553-559, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36799557
3.
Severe NAD(P)HX Dehydratase (NAXD) Neurometabolic Syndrome May Present in Adulthood after Mild Head Trauma.
Int J Mol Sci
; 24(4)2023 Feb 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36834994
4.
Membrane Repair: Mechanisms and Pathophysiology.
Physiol Rev
; 95(4): 1205-40, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26336031
5.
Pathogenic Abnormal Splicing Due to Intronic Deletions that Induce Biophysical Space Constraint for Spliceosome Assembly.
Am J Hum Genet
; 105(3): 573-587, 2019 09 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31447096
6.
Clinical impact of whole-genome sequencing in patients with early-onset dementia.
J Neurol Neurosurg Psychiatry
; 2022 Jul 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35906014
7.
Factors associated with smokefree rules in the homes of Black/African American women smokers residing in low-resource rural communities.
Prev Med
; 165(Pt B): 107340, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36370892
8.
Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies.
Genet Med
; 23(9): 1715-1725, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34054129
9.
Rapid exome sequencing and adjunct RNA studies confirm the pathogenicity of a novel homozygous ASNS splicing variant in a critically ill neonate.
Hum Mutat
; 41(11): 1884-1891, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32906196
10.
Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy.
Hum Mutat
; 41(2): 403-411, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31660661
11.
Loss of calpains-1 and -2 prevents repair of plasma membrane scrape injuries, but not small pores, and induces a severe muscular dystrophy.
Am J Physiol Cell Physiol
; 318(6): C1226-C1237, 2020 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32348180
12.
Dietary intervention rescues myopathy associated with neurofibromatosis type 1.
Hum Mol Genet
; 27(4): 577-588, 2018 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29228356
13.
Clinical presentation and proteomic signature of patients with TANGO2 mutations.
J Inherit Metab Dis
; 43(2): 297-308, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31339582
14.
Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization.
Am J Hum Genet
; 99(5): 1086-1105, 2016 Nov 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27745833
15.
Ferlins Show Tissue-Specific Expression and Segregate as Plasma Membrane/Late Endosomal or Trans-Golgi/Recycling Ferlins.
Traffic
; 17(3): 245-66, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26707827
16.
Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant.
Hum Mutat
; 39(3): 383-388, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29266598
17.
Limited proteolysis as a tool to probe the tertiary conformation of dysferlin and structural consequences of patient missense variant L344P.
J Biol Chem
; 292(45): 18577-18591, 2017 11 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28904177
18.
Muscle weakness in TPM3-myopathy is due to reduced Ca2+-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres.
Hum Mol Genet
; 24(22): 6278-92, 2015 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26307083
19.
Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia.
Hum Mol Genet
; 24(8): 2297-307, 2015 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25556185
20.
Diagnosis and etiology of congenital muscular dystrophy: We are halfway there.
Ann Neurol
; 80(1): 101-11, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27159402