Found: 8
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SCA2 may present as levodopa-responsive parkinsonism.
- Published in:
- Movement Disorders, 2003, v. 18, n. 4, p. 425, doi. 10.1002/mds.10375
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- Publication type:
- Article
Severe X-Linked Charcot-Marie-Tooth Neuropathy Due to New Mutations [G59R(G→C), W44X(G→A)] in the Connexin 32 Gene.
- Published in:
- European Neurology, 2000, v. 44, n. 1, p. 61, doi. 10.1159/000008196
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- Publication type:
- Article
Rare autosomal trisomies, revealed by maternal plasma DNA sequencing, suggest increased risk of feto-placental disease.
- Published in:
- Science Translational Medicine, 2017, v. 9, n. 405, p. 1, doi. 10.1126/scitranslmed.aan1240
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- Publication type:
- Article
Muscle glycerol kinase in Duchenne dystrophy and glycerol kinase deficiency.
- Published in:
- 1989
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- Publication type:
- journal article
A founder mutation in presenilin 1 causing early-onset Alzheimer disease in unrelated Caribbean Hispanic families.
- Published in:
- 2001
- By:
- Publication type:
- journal article
Expansion of a novel CAG trinucleotide repeat in the 5′ region of PPP2R2B is associated with SCA12.
- Published in:
- Nature Genetics, 1999, v. 23, n. 4, p. 391, doi. 10.1038/70493
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- Publication type:
- Article
The spectrum of SCN1A-related infantile epileptic encephalopathies.
- Published in:
- Brain: A Journal of Neurology, 2007, v. 130, n. 3, p. 843
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- Publication type:
- Article
Huntington's disease–like 2 (HDL2) in North America and Japan.
- Published in:
- Annals of Neurology, 2004, v. 56, n. 5, p. 670
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- Publication type:
- Article