Detalhe da pesquisa
1.
Functional Characteristics of the Nav1.1 p.Arg1596Cys Mutation Associated with Varying Severity of Epilepsy Phenotypes.
Int J Mol Sci;
25(3)2024 Feb 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38339022
2.
The mutation responsible for torsion dystonia type 1 shows the ability to stimulate intracellular aggregation of mutant huntingtin.
Dev Period Med;
22(1): 33-38, 2018.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29641419
3.
A sequence upstream of canonical PDZ-binding motif within CFTR COOH-terminus enhances NHERF1 interaction.
Am J Physiol Lung Cell Mol Physiol;
311(6): L1170-L1182, 2016 Dec 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27793802
4.
[Torsin 1A and the pathomechanism of torsion dystonia type 1]. / Funkcja torsyny 1A w patomechanizmie dystonii torsyjnej typu 1.
Postepy Biochem;
61(1): 35-41, 2015.
Artigo
em Polonês
| MEDLINE
| ID: mdl-26281352
5.
[Molecular therapeutic strategies for Huntington's disease]. / Molekularne strategie terapeutyczne w chorobie Huntingtona.
Postepy Biochem;
61(1): 18-24, 2015.
Artigo
em Polonês
| MEDLINE
| ID: mdl-26281350
6.
Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital Microcephaly.
Genes (Basel);
12(12)2021 12 18.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34946966
7.
The H-loop in the second nucleotide-binding domain of the cystic fibrosis transmembrane conductance regulator is required for efficient chloride channel closing.
Cell Physiol Biochem;
25(2-3): 169-80, 2010.
Artigo
em Inglês
| MEDLINE
| ID: mdl-20110677
8.
Incidence of spinal muscular atrophy in Poland--more frequent than predicted?
Neuroepidemiology;
34(3): 152-7, 2010.
Artigo
em Inglês
| MEDLINE
| ID: mdl-20090376
9.
The composition of the polyglutamine-containing proteins influences their co-aggregation properties.
Cell Biol Int;
34(9): 933-42, 2010 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-20515443
10.
Phenotype modifiers of spinal muscular atrophy: the number of SMN2 gene copies, deletion in the NAIP gene and probably gender influence the course of the disease.
Acta Biochim Pol;
56(1): 103-8, 2009.
Artigo
em Inglês
| MEDLINE
| ID: mdl-19287802
11.
Unaffected patients with a homozygous absence of the SMN1 gene.
Eur J Hum Genet;
16(8): 930-4, 2008 Aug.
Artigo
em Inglês
| MEDLINE
| ID: mdl-18337729
12.
The CFTR-derived peptides as a model of sequence-specific protein aggregation.
Cell Mol Biol Lett;
12(3): 435-47, 2007 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-17361366
13.
Towards a Better Molecular Diagnosis of FMR1-Related Disorders-A Multiyear Experience from a Reference Lab.
Genes (Basel);
7(9)2016 Sep 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27598204
14.
PDZ-binding motifs are unable to ensure correct polarized protein distribution in the absence of additional localization signals.
FEBS Lett;
579(2): 483-7, 2005 Jan 17.
Artigo
em Inglês
| MEDLINE
| ID: mdl-15642363
15.
[Diseases associated with protein aggregation]. / Choroby zwiazane z agregacja bialek.
Postepy Biochem;
51(3): 297-307, 2005.
Artigo
em Polonês
| MEDLINE
| ID: mdl-16381174
16.
A compound C-terminal nuclear localization signal of human SA2 stromalin.
Acta Biochim Pol;
62(2): 215-9, 2015.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25979289
17.
Complex interplay between the length and composition of the huntingtin-derived peptides modulates the intracellular behavior of the N-terminal fragments of mutant huntingtin.
Eur J Cell Biol;
94(5): 179-89, 2015 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25773959
18.
Nuclear import and export signals of human cohesins SA1/STAG1 and SA2/STAG2 expressed in Saccharomyces cerevisiae.
PLoS One;
7(6): e38740, 2012.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22715410
19.
[Structure and function in PDZ domains]. / Struktura i funkcja bialkowych domen PDZ.
Postepy Biochem;
49(4): 257-67, 2003.
Artigo
em Polonês
| MEDLINE
| ID: mdl-15176117
20.
A family with paroxysmal nonkinesigenic dyskinesia: genetic and treatment issues.
Pediatr Neurol;
41(2): 135-8, 2009 Aug.
Artigo
em Inglês
| MEDLINE
| ID: mdl-19589464