Found: 17
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Autosomal Dominant Lateral Temporal Epilepsy: Clinical Spectrum, New Epitempin Mutations, and Genetic Heterogeneity in Seven European Families.
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- Epilepsia (Series 4), 2003, v. 44, n. 10, p. 1289, doi. 10.1046/j.1528-1157.2003.20003.x
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- Article
Does the severity of the LGMD2A phenotype in compound heterozygotes depend on the combination of mutations?
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- Muscle & Nerve, 2011, v. 44, n. 5, p. 710, doi. 10.1002/mus.22194
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- Article
Key steps and barriers in the journey of patients with epilepsy through the National Healthcare System in Spain: The EPIPASS qualitative study.
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- Epilepsia Open, 2024, v. 9, n. 5, p. 1731, doi. 10.1002/epi4.12984
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- Article
Effectiveness and safety of perampanel monotherapy for focal and generalized tonic‐clonic seizures: Experience from a national multicenter registry.
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- Epilepsia (Series 4), 2020, v. 61, n. 6, p. 1109, doi. 10.1111/epi.16548
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- Article
Actininopathy: A new muscular dystrophy caused by ACTN2 dominant mutations.
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- 2019
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- journal article
Frequency and phenotypic spectrum of spinocerebellar ataxia 27B and other genetic ataxias in a Spanish cohort of late‐onset cerebellar ataxia.
- Published in:
- European Journal of Neurology, 2023, v. 30, n. 12, p. 3828, doi. 10.1111/ene.16039
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- Article
Further Evidence of Cerebellar Cognitive Affective/Schmahmann Syndrome in RFC1‐Related Syndrome.
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- Movement Disorders, 2024, v. 39, n. 7, p. 1246, doi. 10.1002/mds.29885
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- Article
Dysregulated FOXO1 activity drives skeletal muscle intrinsic dysfunction in amyotrophic lateral sclerosis.
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- Acta Neuropathologica, 2024, v. 148, n. 1, p. 1, doi. 10.1007/s00401-024-02794-y
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- Article
A Common Haplotype Associated with the Basque 2362AG → TCATCT Mutation in the Muscular Calpain-3 Gene.
- Published in:
- Human Biology, 2004, v. 76, n. 5, p. 731, doi. 10.1353/hub.2005.0002
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- Article
Prenatal diagnosis in myotonic dystrophy type 1. Thirteen years of experience: implications for reproductive counselling in DM1 families.
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- Prenatal Diagnosis, 2007, v. 27, n. 1, p. 68, doi. 10.1002/pd.1627
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- Article
The ACMSD gene, involved in tryptophan metabolism, is mutated in a family with cortical myoclonus, epilepsy, and parkinsonism.
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- Journal of Molecular Medicine, 2013, v. 91, n. 12, p. 1399, doi. 10.1007/s00109-013-1075-4
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- Article
Diagnóstico y tratamiento de los insomnios en las personas mayores.
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- Kranion, 2020, v. 15, n. 3, p. 104
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- Article
Epilepsia y depresión.
- Published in:
- Kranion, 2019, v. 14, n. 1, p. 17
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- Article
Proposed Recommendations for the Management of Depression in Adults with Epilepsy: An Expert Consensus.
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- Neurology & Therapy, 2023, v. 12, n. 2, p. 479, doi. 10.1007/s40120-023-00437-0
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- Article
Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain.
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- Genes, 2020, v. 11, n. 5, p. 539, doi. 10.3390/genes11050539
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- Article
Olfactory deficits and cardiac 123I-MIBG in Parkinson's disease related to the LRRK2 R1441G and G2019S mutations.
- Published in:
- 2011
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- Publication type:
- journal article
Olfactory deficits and cardiac <sup>123</sup>I-MIBG in Parkinson's disease related to the LRRK2 R1441G and G2019S mutations.
- Published in:
- Movement Disorders, 2011, v. 26, n. 11, p. 2026, doi. 10.1002/mds.23773
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- Publication type:
- Article