Found: 17
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The spectrum of epilepsy caused by POLG mutations.
- Published in:
- Acta Neurologica Belgica, 2016, v. 116, n. 1, p. 17, doi. 10.1007/s13760-015-0499-8
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- Publication type:
- Article
First line management of prolonged convulsive seizures in children and adults: good practice points.
- Published in:
- Acta Neurologica Belgica, 2013, v. 113, n. 4, p. 375, doi. 10.1007/s13760-013-0247-x
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- Publication type:
- Article
Recommendations for the treatment of epilepsy in adult patients in general practice in Belgium: an update.
- Published in:
- Acta Neurologica Belgica, 2012, v. 112, n. 2, p. 119, doi. 10.1007/s13760-012-0070-9
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- Publication type:
- Article
FAHN/SPG35: a narrow phenotypic spectrum across disease classifications.
- Published in:
- 2019
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- Publication type:
- journal article
Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration.
- Published in:
- Acta Neuropathologica, 2014, v. 128, n. 3, p. 397, doi. 10.1007/s00401-014-1298-7
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- Publication type:
- Article
Meningoencephalitis caused by Streptococcus pneumoniae: a diagnostic and therapeutic challenge.
- Published in:
- Neuroradiology, 2005, v. 47, n. 10, p. 758, doi. 10.1007/s00234-005-1423-3
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- Publication type:
- Article
Occupational airborne allergic contact dermatitis caused by N‐(4‐hydroxyphenyl)benzenesulfonamide.
- Published in:
- 2019
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- Publication type:
- Case Study
STUB1/CHIP mutations cause Gordon Holmes syndrome as part of a widespread multisystemic neurodegeneration: evidence from four novel mutations.
- Published in:
- 2017
- By:
- Publication type:
- journal article
First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsy.
- Published in:
- BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0200-3
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- Publication type:
- Article
First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsy
- Published in:
- BMC Medical Genetics, 2015, v. 16, n. 1, p. 51, doi. 10.1186/s12881-015-0200-3
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- Publication type:
- Article
The SCN1A variant database: a novel research and diagnostic tool.
- Published in:
- 2009
- By:
- Publication type:
- Other
De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy(Communicated by Jacques S. Beckmann).
- Published in:
- Human Mutation, 2003, v. 21, n. 6, p. 615, doi. 10.1002/humu.10217
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- Publication type:
- Article
Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesions.
- Published in:
- 2016
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- Publication type:
- journal article
SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study.
- Published in:
- 2016
- By:
- Publication type:
- journal article
REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31.
- Published in:
- Brain: A Journal of Neurology, 2008, v. 131, n. 4, p. 1078, doi. 10.1093/brain/awn026
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- Publication type:
- Article
KCNQ2 encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy.
- Published in:
- Annals of Neurology, 2012, v. 71, n. 1, p. 15, doi. 10.1002/ana.22644
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- Publication type:
- Article