Found: 21
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Mechanistic basis of an epistatic interaction reducing age at onset in hereditary spastic paraplegia.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Idiopathic Epilepsies with Seizures Precipitated by Fever and SCN1A Abnormalities.
- Published in:
- Epilepsia (Series 4), 2007, v. 48, n. 9, p. 1678, doi. 10.1111/j.1528-1167.2007.01122.x
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- Publication type:
- Article
Expanding the phenotype of ASXL3‐related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 11, p. 3446, doi. 10.1002/ajmg.a.62465
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- Publication type:
- Article
Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth.
- Published in:
- Nature Genetics, 2007, v. 39, n. 8, p. 963, doi. 10.1038/ng2083
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- Publication type:
- Article
ESCRT-III-associated proteins and spastin inhibit protrudin-dependent polarised membrane traffic.
- Published in:
- Cellular & Molecular Life Sciences, 2020, v. 77, n. 13, p. 2641, doi. 10.1007/s00018-019-03313-z
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- Publication type:
- Article
Spastin Couples Microtubule Severing to Membrane Traffic in Completion of Cytokinesis and Secretion.
- Published in:
- Traffic, 2009, v. 10, n. 1, p. 42, doi. 10.1111/j.1600-0854.2008.00847.x
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- Publication type:
- Article
A locus for complicated hereditary spastic paraplegia maps to chromosome 1q24-q32.
- Published in:
- Annals of Neurology, 2003, v. 54, n. 6, p. 796
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- Publication type:
- Article
Diagnosis, investigation and management of hereditary spastic paraplegias in the era of next-generation sequencing.
- Published in:
- Journal of Neurology, 2015, v. 262, n. 7, p. 1601, doi. 10.1007/s00415-014-7598-y
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- Publication type:
- Article
Reticulon-like-1, the Drosophila orthologue of the Hereditary Spastic Paraplegia gene reticulon 2, is required for organization of endoplasmic reticulum and of distal motor axons.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 15, p. 3356, doi. 10.1093/hmg/dds167
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- Publication type:
- Article
An Automated Image Analysis System to Quantify Endosomal Tubulation.
- Published in:
- PLoS ONE, 2016, v. 11, n. 12, p. 1, doi. 10.1371/journal.pone.0168294
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- Publication type:
- Article
Quantitative Gait Analysis Using a Motorized Treadmill System Sensitively Detects Motor Abnormalities in Mice Expressing ATPase Defective Spastin.
- Published in:
- PLoS ONE, 2016, v. 11, n. 3, p. 1, doi. 10.1371/journal.pone.0152413
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- Publication type:
- Article
Hereditary spastic paraplegias: membrane traffic and the motor pathway.
- Published in:
- Nature Reviews Neuroscience, 2011, v. 12, n. 2, p. 118, doi. 10.1038/nrn2990
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- Publication type:
- Article
Hereditary spastic paraplegias: membrane traffic and the motor pathway.
- Published in:
- 2011
- By:
- Publication type:
- journal article
Drosophila spichthyin inhibits BMP signaling and regulates synaptic growth and axonal microtubules.
- Published in:
- Nature Neuroscience, 2007, v. 10, n. 2, p. 177, doi. 10.1038/nn1841
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- Publication type:
- Article
Spastin MIT Domain Disease-Associated Mutations Disrupt Lysosomal Function.
- Published in:
- Frontiers in Neuroscience, 2019, v. 13, p. 1, doi. 10.3389/fnins.2019.01179
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- Publication type:
- Article
The hereditary spastic paraplegia proteins NIPA1, spastin and spartin are inhibitors of mammalian BMP signalling.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 20, p. 3805, doi. 10.1093/hmg/ddp324
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- Publication type:
- Article
Spastin and atlastin, two proteins mutated in autosomal-dominant hereditary spastic paraplegia, are binding partners.
- Published in:
- Human Molecular Genetics, 2006, v. 15, n. 2, p. 307, doi. 10.1093/hmg/ddi447
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- Publication type:
- Article
The hereditary spastic paraplegia protein spastin interacts with the ESCRT-III complex-associated endosomal protein CHMP1B.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 1, p. 19, doi. 10.1093/hmg/ddi003
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- Publication type:
- Article
Axonal transport deficit in a KIF5A mouse model.
- Published in:
- Neurogenetics, 2012, v. 13, n. 2, p. 169, doi. 10.1007/s10048-012-0324-y
- By:
- Publication type:
- Article
An SPG3A whole gene deletion neither co-segregates with disease nor modifies phenotype in a hereditary spastic paraplegia family with a pathogenic SPG4 deletion.
- Published in:
- 2007
- By:
- Publication type:
- Letter
Protrudin functions from the endoplasmic reticulum to support axon regeneration in the adult CNS.
- Published in:
- Nature Communications, 2020, v. 11, n. 1, p. N.PAG, doi. 10.1038/s41467-020-19436-y
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- Publication type:
- Article