A complex form of hereditary spastic paraplegia in three siblings due to somatic mosaicism for a novel SPAST mutation in the mother
Author:
Funder
BMBF
Publisher
Elsevier BV
Subject
Neurology (clinical),Neurology
Reference15 articles.
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3. Bladder dysfunction in hereditary spastic paraplegia: what to expect?;Braschinsky;J Neurol Neurosurg Psychiatry,2010
4. Motor evoked potentials from the external anal sphincter in patients with autosomal dominant pure spastic paraplegia linked to chromosome 2p;Jennum;J Neurol Neurosurg Psychiatry,2001
5. Molecular aspects of hereditary spastic paraplegia;Noreau;Exp Cell Res,2014
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1. Evidence of mosaicism in SPAST variant carriers in four French families;European Journal of Human Genetics;2021-05-06
2. A Japanese SPG4 Patient with a Confirmed De Novo Mutation of the SPAST Gene;Internal Medicine;2020-09-15
3. An allosteric network in spastin couples multiple activities required for microtubule severing;Nature Structural & Molecular Biology;2019-07-08
4. De novo SPAST mutations may cause a complex SPG4 phenotype;Brain;2019-06-03
5. Review: Somatic mutations in neurodegeneration;Neuropathology and Applied Neurobiology;2018-02-28
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