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Aicardi–Goutières syndrome: monogenic recessive disease, genetically heterogeneous disease, or multifactorial disease?
- Published in:
- Clinical Genetics, 1999, v. 56, n. 2, p. 149, doi. 10.1034/j.1399-0004.1999.560210.x
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- Publication type:
- Article
Inherited microdeletion in Xp21.3-22.1 involved in non-specific mental retardation.
- Published in:
- Clinical Genetics, 1998, v. 53, n. 2, p. 136, doi. 10.1111/j.1399-0004.1998.tb02661.x
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- Publication type:
- Article
Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus.
- Published in:
- Nature Genetics, 2006, v. 38, n. 8, p. 917, doi. 10.1038/ng1845
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- Article
Unexplained mental retardation: is brain MRI useful?
- Published in:
- 2005
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- Publication type:
- journal article
Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesis.
- Published in:
- Developmental Medicine & Child Neurology, 2010, v. 52, n. 2, p. e1, doi. 10.1111/j.1469-8749.2009.03541.x
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- Publication type:
- Article
Herpes simplex encephalitis: diagnostic problems and late relapse.
- Published in:
- Developmental Medicine & Child Neurology, 2006, v. 48, n. 1, p. 60, doi. 10.1017/s0012162206000120
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- Publication type:
- Article
Intrathecal synthesis of different alpha-interferons in patients with various neurological diseases.
- Published in:
- Acta Neurologica Scandinavica, 1985, v. 71, n. 6, p. 504, doi. 10.1111/j.1600-0404.1985.tb03235.x
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- Publication type:
- Article
MRI prognostic factors for relapse after acute CNS inflammatory demyelination in childhood.
- Published in:
- Brain: A Journal of Neurology, 2004, v. 127, n. 9, p. 1942, doi. 10.1093/brain/awh218
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- Publication type:
- Article
Limits of Early Diagnosis of Herpes Simplex Encephalitis in Children: A Retrospective Study of 38 Cases.
- Published in:
- Clinical Infectious Diseases, 2003, v. 36, n. 10, p. 1335, doi. 10.1086/374839
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- Publication type:
- Article
Acute measles encephalitis of the delayed type.
- Published in:
- Annals of Neurology, 1977, v. 2, n. 4, p. 322, doi. 10.1002/ana.410020411
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- Publication type:
- Article
Evidence against haploinsuffiency of human ataxin 10 as a cause of spinocerebellar ataxia type 10.
- Published in:
- 2010
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- Publication type:
- Letter
doublecortin is the major gene causing X-linked subcortical laminar heterotopia (SCLH).
- Published in:
- Human Molecular Genetics, 1998, v. 7, n. 7, p. 1063, doi. 10.1093/hmg/7.7.1063
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- Publication type:
- Article
Localization of the Schwartz–Jampel syndrome (SJS) locus to chromosome 1p34–p36.1 by homozygosity mapping.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 9, p. 1633
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- Publication type:
- Article
Pyruvate dehydrogenase deficiency in a female due to a 4 base pair deletion in exon 10 of the E1α gene.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 2, p. 307
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- Publication type:
- Article