Found: 19
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Infantile type of so-called neuronal ceroid-lipofuscinosis.
- Published in:
- Acta Neuropathologica, 1973, v. 26, n. 2, p. 157, doi. 10.1007/BF00697751
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- Publication type:
- Article
DNA-based prenatal diagnosis of the infantile form of neuronal ceroid lipofuscinosis (INCL, CLN1).
- Published in:
- 1991
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- Publication type:
- journal article
Prenatal diagnosis of the infantile type of neuronal ceroid lipofuscinosis by electron microscopic investigation of human chorionic villi.
- Published in:
- 1990
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- Publication type:
- journal article
High‐resolution magic angle spinning and 1H magnetic resonance spectroscopy reveal significantly altered neuronal metabolite profiles in CLN1 but not in CLN3.
- Published in:
- Journal of Neuroscience Research, 2004, v. 77, n. 5, p. 762, doi. 10.1002/jnr.20123
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- Publication type:
- Article
OPHTHALMOLOGICAL FINDINGS IN A NEW SYNDROME WITH MUSCLE, EYE AND BRAIN INVOLVEMENT.
- Published in:
- Acta Ophthalmologica (1755375X), 1978, v. 56, n. 3, p. 465, doi. 10.1111/j.1755-3768.1978.tb05700.x
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- Publication type:
- Article
OPHTHALMOLOGICAL FINDINGS IN INFANTILE TYPE OF SO-CALLED NEURONAL CEROID LIPOFUSCINOSIS.
- Published in:
- Acta Ophthalmologica (1755375X), 1973, v. 51, n. 6, p. 755, doi. 10.1111/j.1755-3768.1973.tb06044.x
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- Publication type:
- Article
Antioxidant treatment in Spielmeyer-Sjögren's disease.
- Published in:
- Acta Neurologica Scandinavica, 1985, v. 71, n. 2, p. 136, doi. 10.1111/j.1600-0404.1985.tb03178.x
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- Publication type:
- Article
Absence seizures: Valproate or ethosuximide?
- Published in:
- Acta Neurologica Scandinavica, 1983, v. 68, p. 41, doi. 10.1111/j.1600-0404.1983.tb01534.x
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- Publication type:
- Article
Iron and oxygen radicals in tissue damage: implications for the neuronal ceroid lipofuscinoses.
- Published in:
- Acta Neurologica Scandinavica, 1983, v. 68, n. 6, p. 365, doi. 10.1111/j.1600-0404.1983.tb04845.x
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- Publication type:
- Article
EEG and evoked potentials in infantile neuronal ceroid-lipofuscinosis.
- Published in:
- 1997
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- Publication type:
- journal article
MRI of the brain, EEG sleep spindles and SPECT in the early diagnosis of infantile neuronal ceroid lipofuscinosis.
- Published in:
- 1992
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- Publication type:
- journal article
Infantile type of so-called neuronal ceroid-lipofuscinosis.
- Published in:
- 1974
- By:
- Publication type:
- journal article
Sleep and Its Disturbance in a Variant Form of Late Infantile Neuronal Ceroid Lipofuscinosis (CLN5).
- Published in:
- Journal of Child Neurology, 2001, v. 16, n. 10, p. 707, doi. 10.1177/088307380101601001
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- Publication type:
- Article
MRI Evaluation of the Brain in Infantile Neuronal Ceroid-Lipofuscinosis.
- Published in:
- Journal of Child Neurology, 1995, v. 10, n. 6, p. 444, doi. 10.1177/088307389501000604
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- Publication type:
- Article
MRI Evaluation of the Brain in Infantile Neuronal Ceroid-Lipofuscinosis. Part 1: Postmortem MRI With Histopathologic Correlation.
- Published in:
- Journal of Child Neurology, 1995, v. 10, n. 6, p. 438, doi. 10.1177/088307389501000603
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- Publication type:
- Article
Large Alterations in Ganglioside and Neutral Glycosphingolipid Patterns in Brains from Cases with Infantile Neuronal Ceroid Lipofuscinosis/Polyunsaturated Fatty Acid Lipidosis.
- Published in:
- Journal of Neurochemistry, 1987, v. 49, n. 6, p. 1772, doi. 10.1111/j.1471-4159.1987.tb02435.x
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- Publication type:
- Article
Clinical and magnetic resonance imaging findings in batten disease: Analysis of the major mutation (1.02-kb deletion).
- Published in:
- Annals of Neurology, 1997, v. 42, n. 5, p. 799, doi. 10.1002/ana.410420517
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- Publication type:
- Article
Urinary sediment dolichols in the diagnosis of neuronal ceroid-lipofuscinosis.
- Published in:
- Annals of Neurology, 1986, v. 19, n. 3, p. 270, doi. 10.1002/ana.410190308
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- Publication type:
- Article
CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis.
- Published in:
- Nature Genetics, 1998, v. 19, n. 3, p. 286, doi. 10.1038/975
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- Publication type:
- Article