Detalles de la búsqueda
1.
The Effect of p.G2019S Mutation in the LRRK2 Gene on the Activity of Lysosomal Hydrolases and the Clinical Features of Parkinson's Disease Associated with p.N370S Mutation in the GBA1 Gene.
J Integr Neurosci;
23(1): 16, 2024 Jan 16.
Artículo
en Inglés
| MEDLINE | ID: mdl-38287861
2.
New Case of Spinocerebellar Ataxia, Autosomal Recessive 4, Due to VPS13D Variants.
Int J Mol Sci;
25(10)2024 May 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-38791166
3.
Association of Rare Variants in ARSA with Parkinson's Disease.
Mov Disord;
38(10): 1806-1812, 2023 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-37381728
4.
Oligomeric complexes formed by Redß single strand annealing protein in its different DNA bound states.
Nucleic Acids Res;
49(6): 3441-3460, 2021 04 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-33693865
5.
Clinical Characterization of Alagille Syndrome in Patients with Cholestatic Liver Disease.
Int J Mol Sci;
24(14)2023 Jul 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-37511516
6.
Whole Transcriptome Analysis of Substantia Nigra in Mice with MPTP-Induced Parkinsonism Bearing Defective Glucocerebrosidase Activity.
Int J Mol Sci;
24(15)2023 Jul 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-37569538
7.
Leigh Syndrome: Spectrum of Molecular Defects and Clinical Features in Russia.
Int J Mol Sci;
24(2)2023 Jan 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-36675121
8.
Clinical and Genetic Characteristics of Calvarial Doughnut Lesions with Bone Fragility in Three Families with a Reccurent SGMS2 Gene Variant.
Int J Mol Sci;
24(9)2023 Apr 28.
Artículo
en Inglés
| MEDLINE | ID: mdl-37175737
9.
Biochemical Characteristics of iPSC-Derived Dopaminergic Neurons from N370S GBA Variant Carriers with and without Parkinson's Disease.
Int J Mol Sci;
24(5)2023 Feb 23.
Artículo
en Inglés
| MEDLINE | ID: mdl-36901867
10.
Potential Binding Sites of Pharmacological Chaperone NCGC00241607 on Mutant ß-Glucocerebrosidase and Its Efficacy on Patient-Derived Cell Cultures in Gaucher and Parkinson's Disease.
Int J Mol Sci;
24(10)2023 May 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-37240451
11.
Mucopolysaccharidosis-Plus Syndrome: Report on a Polish Patient with a Novel VPS33A Variant with Comparison with Other Described Patients.
Int J Mol Sci;
23(19)2022 Sep 28.
Artículo
en Inglés
| MEDLINE | ID: mdl-36232726
12.
Clinical and Genetic Characteristics of Pediatric Patients with Hypophosphatasia in the Russian Population.
Int J Mol Sci;
23(21)2022 Oct 26.
Artículo
en Inglés
| MEDLINE | ID: mdl-36361766
13.
Crystal structure of the Redß C-terminal domain in complex with λ Exonuclease reveals an unexpected homology with λ Orf and an interaction with Escherichia coli single stranded DNA binding protein.
Nucleic Acids Res;
47(4): 1950-1963, 2019 02 28.
Artículo
en Inglés
| MEDLINE | ID: mdl-30624736
14.
Functional Analysis of the PCCA and PCCB Gene Variants Predicted to Affect Splicing.
Int J Mol Sci;
22(8)2021 Apr 16.
Artículo
en Inglés
| MEDLINE | ID: mdl-33923806
15.
Complex Transposon Insertion as a Novel Cause of Pompe Disease.
Int J Mol Sci;
22(19)2021 Oct 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-34639227
16.
Molecular and biochemical study of glutaric aciduria type 1 in 49 Russian families: nine novel mutations in the GCDH gene.
Metab Brain Dis;
35(6): 1009-1016, 2020 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-32240488
17.
Oxysterol/chitotriosidase based selective screening for Niemann-Pick type C in infantile cholestasis syndrome patients.
BMC Med Genet;
20(1): 123, 2019 07 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-31296176
18.
Plasma FGF-21 and GDF-15 are elevated in different inherited metabolic diseases and are not diagnostic for mitochondrial disorders.
J Inherit Metab Dis;
42(5): 918-933, 2019 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-31260105
19.
Blood lysosphingolipids accumulation in patients with parkinson's disease with glucocerebrosidase 1 mutations.
Mov Disord;
33(8): 1325-1330, 2018 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-30192031
20.
Diagnostic Algorithm for Cholesteryl Ester Storage Disease: Clinical Presentation in 19 Polish Patients.
J Pediatr Gastroenterol Nutr;
67(4): 452-457, 2018 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-29958253