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A recurrent mutation in DEPDC5 predisposes to focal epilepsies in the French-Canadian population.
- Published in:
- Clinical Genetics, 2014, v. 86, n. 6, p. 570, doi. 10.1111/cge.12311
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- Publication type:
- Article
Recurrent mutations in DNAJC5 cause autosomal dominant Kufs disease.
- Published in:
- Clinical Genetics, 2013, v. 83, n. 6, p. 571, doi. 10.1111/cge.12020
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- Publication type:
- Article
Surgical Resection for Intractable Epilepsy in “Double Cortex” Syndrome Yields Inadequate Results.
- Published in:
- Epilepsia (Series 4), 2001, v. 42, n. 9, p. 1124, doi. 10.1046/j.1528-1157.2001.39900.x
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- Publication type:
- Article
Severe Myoclonic Epilepsy of Infancy: Extended Spectrum of GEFS<sup>+</sup>?
- Published in:
- Epilepsia (Series 4), 2001, v. 42, n. 7, p. 837, doi. 10.1046/j.1528-1157.2001.042007837.x
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- Publication type:
- Article
Unusual Imaging Findings in Progressive Myoclonus Epilepsy.
- Published in:
- Epilepsia (Series 4), 2001, v. 42, n. 3, p. 430, doi. 10.1046/j.1528-1157.2001.15800.x
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- Publication type:
- Article
Clinical Findings and Linkage Studies in Familial Tuberous Sclerosis.
- Published in:
- Annals of the New York Academy of Sciences, 1991, v. 615, n. 1, p. 380, doi. 10.1111/j.1749-6632.1991.tb37788.x
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- Publication type:
- Article
Anticipation in familial cavernous angioma: ascertainment bias or genetic cause.
- Published in:
- Acta Neurologica Scandinavica, 1998, v. 98, n. 6, p. 372, doi. 10.1111/j.1600-0404.1998.tb07316.x
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- Publication type:
- Article
Immunological studies in focal epilepsy.
- Published in:
- Acta Neurologica Scandinavica, 1988, v. 78, n. 5, p. 358, doi. 10.1111/j.1600-0404.1988.tb03671.x
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- Publication type:
- Article
Immunological and genetic studies in primary generalized corticoreticular epilepsy.
- Published in:
- Acta Neurologica Scandinavica, 1986, v. 74, n. 6, p. 425, doi. 10.1111/j.1600-0404.1986.tb07867.x
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- Publication type:
- Article
Action myoclonus-renal failure syndrome: characterization of a unique cerebro-renal disorder.
- Published in:
- 2004
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- Publication type:
- Journal Article
Differential impact of the FMR1 gene on visual processing in fragile X syndrome.
- Published in:
- 2004
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- Publication type:
- journal article
Spectroscopic imaging of frontal neuronal dysfunction in hyperekplexia.
- Published in:
- Brain: A Journal of Neurology, 1998, v. 121, n. 8, p. 1507, doi. 10.1093/brain/121.8.1507
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- Publication type:
- Article
Stages and patterns of centrifugal arrest of diffuse neuronal migration disorders.
- Published in:
- 1993
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- Publication type:
- journal article
SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure.
- Published in:
- Annals of Neurology, 2009, v. 66, n. 4, p. 532, doi. 10.1002/ana.21765
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- Publication type:
- Article
Herpesviral DNA in brain tissue from patients with temporal lobe epilepsy.
- Published in:
- Acta Neurologica Scandinavica, 2004, v. 109, n. 3, p. 169, doi. 10.1046/j.1600-0404.2003.00238.x
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- Publication type:
- Article
Familial perisylvian polymicrogyria: A new familial syndrome of cortical maldevelopment.
- Published in:
- Annals of Neurology, 2000, v. 48, n. 1, p. 39, doi. 10.1002/1531-8249(200007)48:1<39::AID-ANA7>3.0.CO;2-X
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- Publication type:
- Article
Atrophy of mesial structures in patients with temporal lobe epilepsy: Cause or consequence of repeated seizures?
- Published in:
- Annals of Neurology, 1993, v. 34, n. 6, p. 795, doi. 10.1002/ana.410340607
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- Publication type:
- Article
Unverricht-Lundborg disease: Absence of nonallelic genetic heterogeneity.
- Published in:
- Annals of Neurology, 1993, v. 34, n. 5, p. 739, doi. 10.1002/ana.410340519
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- Publication type:
- Article
Focal neuronal migration disorders and intractable partial epilepsy: a study of 30 patients.
- Published in:
- 1991
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- Publication type:
- journal article
Startle disease, or hyperekplexia.
- Published in:
- 1984
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- Publication type:
- Letter
The mutation mechanism causing juvenile-onset Tay-Sachs disease among Lebanese.
- Published in:
- Clinical Genetics, 1989, v. 35, n. 5, p. 364, doi. 10.1111/j.1399-0004.1989.tb02956.x
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- Publication type:
- Article