Found: 12
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A Distinct Phenotype in a Novel ATP1A3 Mutation: Connecting the Two Ends of a Spectrum.
- Published in:
- Movement Disorders Clinical Practice, 2016, v. 3, n. 4, p. 398, doi. 10.1002/mdc3.12263
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- Article
Adult polyglucosan body disease—an atypical compound heterozygous with a novel GBE1 mutation.
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- Neurological Sciences, 2021, v. 42, n. 7, p. 2955, doi. 10.1007/s10072-021-05096-3
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- Article
Refractory epilepsy in Norrie disease.
- Published in:
- 2018
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- Case Study
Genotypes at the APOE and SCA2 loci do not predict the course of multiple sclerosis in patients of Portuguese origin.
- Published in:
- Multiple Sclerosis (13524585), 2004, v. 10, n. 2, p. 153, doi. 10.1191/1352458504ms998oa
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- Article
Heterozygous variants in SPTBN1 cause intellectual disability and autism.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 2037, doi. 10.1002/ajmg.a.62201
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- Article
Osteopathia Striata With Cranial Sclerosis Owing to WTX Gene Defect.
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- Journal of Bone & Mineral Research, 2010, v. 25, n. 1, p. 82, doi. 10.1359/jbmr.090707
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- Article
Autosomal Dominant Spastic Paraplegias.
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- JAMA Neurology, 2013, v. 70, n. 4, p. 481, doi. 10.1001/jamaneurol.2013.1956
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- Publication type:
- Article
The first Portuguese family with NEFL-related Charcot-Marie-Tooth type 2 disease.
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- Acta Myologica, 2019, v. 38, n. 3, p. 180
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- Article
Bethlem myopathy in a Portuguese patient - case report.
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- Acta Myologica, 2017, v. 36, n. 3, p. 178
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- Publication type:
- Article
Whole Gene Deletion of EBF3 Supporting Haploinsufficiency of This Gene as a Mechanism of Neurodevelopmental Disease.
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- Frontiers in Genetics, 2017, p. 1, doi. 10.3389/fgene.2017.00143
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- Article
Intergenerational instability in Huntington disease: Extreme repeat changes among 134 transmissions.
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- Movement Disorders, 2012, v. 27, n. 4, p. 583, doi. 10.1002/mds.24065
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- Publication type:
- Article
FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutations may be associated with a wider spectrum of phenotypes.
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- Behavioral & Brain Functions, 2011, v. 7, n. 1, p. 19, doi. 10.1186/1744-9081-7-19
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- Publication type:
- Article