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Phenotypical spectrum of SACS variants: Neuromuscular perspective of a complex neurodegenerative disorder.
- Published in:
- Acta Neurologica Scandinavica, 2022, v. 145, n. 5, p. 619, doi. 10.1111/ane.13592
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- Article
Autosomal recessive spastic tetraplegia caused by AP4M1 and AP4B1 gene mutation: Expansion of the facial and neuroimaging features.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1677, doi. 10.1002/ajmg.a.36514
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- Article
Episodic ataxia and myokymia syndrome: A new mutation of potassium channel gene Kv1.1.
- Published in:
- Annals of Neurology, 1996, v. 40, n. 4, p. 684, doi. 10.1002/ana.410400422
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- Publication type:
- Article
An association analysis at 2q36 reveals a new candidate susceptibility gene for juvenile absence epilepsy and/or absence seizures associated with generalized tonic-clonic seizures.
- Published in:
- Epilepsia (Series 4), 2011, v. 52, n. 5, p. 975, doi. 10.1111/j.1528-1167.2010.02970.x
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- Article