Found: 14
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β-Glucocerebrosidase Deficiency Activates an Aberrant Lysosome-Plasma Membrane Axis Responsible for the Onset of Neurodegeneration.
- Published in:
- Cells (2073-4409), 2022, v. 11, n. 15, p. 2343, doi. 10.3390/cells11152343
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- Publication type:
- Article
Two novel splicing mutations in the SLC45A2 gene cause Oculocutaneous Albinism Type IV by unmasking cryptic splice sites.
- Published in:
- Journal of Human Genetics, 2015, v. 60, n. 9, p. 467, doi. 10.1038/jhg.2015.56
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- Publication type:
- Article
A lysosome-plasma membrane-sphingolipid axis linking lysosomal storage to cell growth arrest.
- Published in:
- FASEB Journal, 2018, v. 32, n. 10, p. 5685, doi. 10.1096/fj.201701512RR
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- Publication type:
- Article
Saposin D variants are not a common cause of familial Parkinson's disease among Italians.
- Published in:
- 2020
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- Publication type:
- letter
A Novel Homozygous VPS11 Variant May Cause Generalized Dystonia.
- Published in:
- Annals of Neurology, 2021, v. 89, n. 4, p. 834, doi. 10.1002/ana.26021
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- Publication type:
- Article
DNAJC12 and dopa-responsive nonprogressive parkinsonism.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Low‐grade parental gonosomal mosaicism in CHD2 siblings with Smith–Magenis‐like syndrome.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2024, v. 195, n. 6, p. 1, doi. 10.1002/ajmg.b.32976
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- Publication type:
- Article
Inside Cover: 2,6-Difluorobenzamide Inhibitors of Bacterial Cell Division Protein FtsZ: Design, Synthesis, and Structure-Activity Relationships (ChemMedChem 16/2017).
- Published in:
- ChemMedChem, 2017, v. 12, n. 16, p. 1225, doi. 10.1002/cmdc.201700471
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- Publication type:
- Article
2,6-Difluorobenzamide Inhibitors of Bacterial Cell Division Protein FtsZ: Design, Synthesis, and Structure-Activity Relationships.
- Published in:
- ChemMedChem, 2017, v. 12, n. 16, p. 1303, doi. 10.1002/cmdc.201700201
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- Publication type:
- Article
Massive Accumulation of Sphingomyelin Affects the Lysosomal and Mitochondria Compartments and Promotes Apoptosis in Niemann-Pick Disease Type A.
- Published in:
- Journal of Molecular Neuroscience, 2022, v. 72, n. 7, p. 1482, doi. 10.1007/s12031-022-02036-4
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- Publication type:
- Article
Role of Lysosomal Gene Variants in Modulating GBA‐Associated Parkinson's Disease Risk.
- Published in:
- Movement Disorders, 2022, v. 37, n. 6, p. 1202, doi. 10.1002/mds.28987
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- Publication type:
- Article
First Replication of the Involvement of OTUD6B in Intellectual Disability Syndrome With Seizures and Dysmorphic Features.
- Published in:
- Frontiers in Genetics, 2018, p. N.PAG, doi. 10.3389/fgene.2018.00464
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- Publication type:
- Article
Alpha-Synuclein oligomers in skin biopsy: a reliable biomarker in GBA associated Parkinson’s disease.
- Published in:
- Italian Journal of Anatomy & Embryology / Archivio Italiano di Anatomia Ed Embriologia, 2022, v. 126, p. 163
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- Publication type:
- Article
The LRRK2 Variant E193K Prevents Mitochondrial Fission Upon MPP+ Treatment by Altering LRRK2 Binding to DRP1.
- Published in:
- Frontiers in Molecular Neuroscience, 2018, p. 1, doi. 10.3389/fnmol.2018.00064
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- Publication type:
- Article