Found: 8
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Mutations in the skeletal muscle α-actin gene in patients with actin myopathy and nemaline myopathy.
- Published in:
- Nature Genetics, 1999, v. 23, n. 2, p. 208, doi. 10.1038/13837
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- Publication type:
- Article
Leukodystrophies and genetic leukoencephalopathies in childhood: a national epidemiological study.
- Published in:
- 2016
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- Publication type:
- journal article
An investigation into the relationship between vigabatrin, movement disorders, and brain magnetic resonance imaging abnormalities in children with infantile spasms.
- Published in:
- Developmental Medicine & Child Neurology, 2013, v. 55, n. 9, p. 862, doi. 10.1111/dmcn.12188
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- Publication type:
- Article
GM2 gangliosidosis in a UK study of children with progressive neurodegeneration: 73 cases reviewed.
- Published in:
- Developmental Medicine & Child Neurology, 2012, v. 54, n. 2, p. 176, doi. 10.1111/j.1469-8749.2011.04160.x
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- Publication type:
- Article
The clinical presentation of mitochondrial diseases in children with progressive intellectual and neurological deterioration: a national, prospective, population-based study.
- Published in:
- Developmental Medicine & Child Neurology, 2010, v. 52, n. 5, p. 434, doi. 10.1111/j.1469-8749.2009.03463.x
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- Publication type:
- Article
The underlying etiology of infantile spasms (West syndrome): Information from the International Collaborative Infantile Spasms Study (ICISS).
- Published in:
- Epilepsia (Series 4), 2019, v. 60, n. 9, p. 1861, doi. 10.1111/epi.16305
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- Publication type:
- Article
The effect of lead time to treatment and of age of onset on developmental outcome at 4 years in infantile spasms: Evidence from the United Kingdom Infantile Spasms Study.
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- Epilepsia (Series 4), 2011, v. 52, n. 7, p. 1359, doi. 10.1111/j.1528-1167.2011.03127.x
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- Publication type:
- Article
The underlying etiology of infantile spasms (West syndrome): Information from the United Kingdom Infantile Spasms Study (UKISS) on contemporary causes and their classification.
- Published in:
- Epilepsia (Series 4), 2010, v. 51, n. 10, p. 2168, doi. 10.1111/j.1528-1167.2010.02695.x
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- Publication type:
- Article