Detalhe da pesquisa
1.
Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome.
Am J Hum Genet;
110(12): 2112-2119, 2023 Dec 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37963460
2.
Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamics.
Brain;
147(5): 1751-1767, 2024 May 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38128568
3.
Reticulon 2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity.
Brain;
2024 Mar 25.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38527963
4.
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
5.
Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia.
Ann Neurol;
92(2): 304-321, 2022 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35471564
6.
Altered voltage-dependence of slowly activating chloride-proton antiport by late endosomal ClC-6 explains distinct neurological disorders.
J Physiol;
600(9): 2147-2164, 2022 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35262198
7.
A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease.
Genet Med;
24(10): 2194-2203, 2022 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36001086
8.
TRPM2 Oxidation Activates Two Distinct Potassium Channels in Melanoma Cells through Intracellular Calcium Increase.
Int J Mol Sci;
22(16)2021 Aug 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34445066
9.
New Insights into the Mechanism of NO3- Selectivity in the Human Kidney Chloride Channel ClC-Ka and the CLC Protein Family.
J Am Soc Nephrol;
30(2): 293-302, 2019 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30635372
10.
The 2018 correlative microscopy techniques roadmap.
J Phys D Appl Phys;
51(44): 443001, 2018 Nov 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30799880
11.
A tale of two CLCs: biophysical insights toward understanding ClC-5 and ClC-7 function in endosomes and lysosomes.
J Physiol;
593(18): 4139-50, 2015 Sep 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26036722
12.
I-J loop involvement in the pharmacological profile of CLC-K channels expressed in Xenopus oocytes.
Biochim Biophys Acta;
1838(11): 2745-56, 2014 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25073071
13.
Mechanism of proton/substrate coupling in the heptahelical lysosomal transporter cystinosin.
Proc Natl Acad Sci U S A;
109(5): E210-7, 2012 Jan 31.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22232659
14.
Patch-clamp fluorometry: electrophysiology meets fluorescence.
Biophys J;
106(6): 1250-7, 2014 Mar 18.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24655500
15.
Thermal sensitivity of CLC and TMEM16 chloride channels and transporters.
Curr Top Membr;
74: 213-31, 2014.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25366238
16.
Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications.
Nat Commun;
15(1): 2269, 2024 Mar 13.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38480682
17.
A single point mutation reveals gating of the human ClC-5 Cl-/H+ antiporter.
J Physiol;
591(23): 5879-93, 2013 Dec 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24099800
18.
Conversion of the 2 Cl(-)/1 H+ antiporter ClC-5 in a NO3(-)/H+ antiporter by a single point mutation.
EMBO J;
28(3): 175-82, 2009 Feb 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-19131966
19.
Biallelic loss of function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental delay syndrome.
medRxiv;
2023 Jun 27.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37425688
20.
Biallelic loss of LDB3 leads to a lethal pediatric dilated cardiomyopathy.
Eur J Hum Genet;
31(1): 97-104, 2023 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36253531