Found: 9
Select item for more details and to access through your institution.
Erbliche spastische Spinalparalysen: aktuelle Erkenntnisse und Entwicklungen.
- Published in:
- Medizinische Genetik, 2018, v. 30, n. 2, p. 238, doi. 10.1007/s11825-018-0196-0
- By:
- Publication type:
- Article
RTN2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity.
- Published in:
- Brain: A Journal of Neurology, 2024, v. 147, n. 7, p. 2334, doi. 10.1093/brain/awae091
- By:
- Publication type:
- Article
Neuroinflammatory disease signatures in SPG11-related hereditary spastic paraplegia patients.
- Published in:
- Acta Neuropathologica, 2024, v. 147, n. 1, p. 1, doi. 10.1007/s00401-023-02675-w
- By:
- Publication type:
- Article
In Vivo Evidence for Lysosome Depletion and Impaired Autophagic Clearance in Hereditary Spastic Paraplegia Type SPG11.
- Published in:
- PLoS Genetics, 2015, v. 11, n. 8, p. 1, doi. 10.1371/journal.pgen.1005454
- By:
- Publication type:
- Article
A Hereditary Spastic Paraplegia Mouse Model Supports a Role of ZFYVE26/SPASTIZIN for the Endolysosomal System.
- Published in:
- PLoS Genetics, 2013, v. 9, n. 12, p. 1, doi. 10.1371/journal.pgen.1003988
- By:
- Publication type:
- Article
The spectrum of KIAA0196 variants, and characterization of a murine knockout: implications for the mutational mechanism in hereditary spastic paraplegia type SPG8.
- Published in:
- 2015
- By:
- Publication type:
- journal article
A spastic paraplegia mouse model reveals REEP1-dependent ER shaping.
- Published in:
- 2013
- By:
- Publication type:
- journal article
A spastic paraplegia mouse model reveals REEP1-dependent ER shaping.
- Published in:
- Journal of Clinical Investigation, 2013, v. 123, n. 10, p. 4273, doi. 10.1172/JCI65665
- By:
- Publication type:
- Article
SPG15 protein deficits are at the crossroads between lysosomal abnormalities, altered lipid metabolism and synaptic dysfunction.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 16, p. 2693, doi. 10.1093/hmg/ddac063
- By:
- Publication type:
- Article