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Pilot Study of Fingolimod Treatment in Neuronal Ceroid Lipofuscinosis Type 1. [PDF]

Neurol Genet
Messina M, Whiteley R, Gan C, Heywood WE, Heslegrave AJ, Keating M, Taylor S, Footitt E, Mills P, Hemingway C, Gissen P, Vecchiato K.   +11 more
europepmc   +1 more source

Autosomal dominant Kufs disease in a Georgian adult woman: A case report. [PDF]

Epilepsy Behav Rep
Papiashvili N, Gagua S, Gonjilashvili N, Okujava N, Tsereteli A.   +4 more
europepmc   +1 more source

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The neuronal ceroid‐lipofuscinoses

Developmental Disabilities Research Reviews, 2013
The neuronal ceroid‐lipofuscinoses (NCL's, Batten disease) represent a group of severe neurodegenerative diseases, which mostly present in childhood. The phenotypes are similar and include visual loss, seizures, loss of motor and cognitive function, and early death.
Michael J, Bennett, Dinesh, Rakheja
openaire   +4 more sources

Neuronal ceroid-lipofuscinoses in childhood

Brain and Development, 1988
Neuronal Childhood types of ceroid-lipofuscinoses (NCL) are reviewed. All three main types, infantile, late infantile and juvenile, are progressive encephalopathies characterized by neural and extraneural accumulation of ceroid- and lipofuscin like storage cytosomes. The pathogenesis of NCL is unknown.
openaire   +4 more sources

Prenatal diagnosis of neuronal ceroid‐lipofuscinoses

American Journal of Medical Genetics, 1985
AbstractWe report on the successful prenatal diagnosis of the late infantile “Jansky‐Bielschowsky” variant of the neuronal ceroid‐lipofuscinoses (NCL). The fetus was studied at 16 weeks of gestation because of an affected sib. Uncultured amniotic fluid cells were studied by conventional electron microscopic techniques.
Patrick M. Macleod, Clarissa L. Dolman, Robert E. Nickel, Eva Chang, Sukriti Nag, Johnathan Zonana, Kerry Silvey, John M. Opitz, James F. Reynolds   +8 more
openaire   +4 more sources

Neuronal ceroid lipofuscinoses

Epileptic Disorders, 2016
Abstract The neuronal ceroid lipofuscinoses (NCL) are neurodegenerative conditions that associate cognitive decline, progressive cerebellar atrophy, retinopathy, and myoclonic epilepsy. NCL result from the excessive accumulation of neuronal and extraneuronal lipopigments, despite having diverse underlying biochemical aetiologies. Here
Dragos A, Nita, Sara E, Mole, Berge A, Minassian   +2 more
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Neuronal ceroid lipofuscinoses

2013
Neuronal ceroid lipofuscinoses (NCL) represent a group of autosomal recessive neurodegenerative disorders, presenting with myoclonic epilepsy, psychomotor delay, progressive loss of vision, and early death. Four main clinical forms have been delineated (infantile, late infantile, juvenile, and adult), but many other variants have also been described ...
Brigitte, Chabrol, Catherine, Caillaud, Berge, Minassian   +2 more
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Neuronal ceroid lipofuscinoses in childhood

Neurological Sciences, 2000
NCL disorders are progressive brain diseases with an autosomal recessive inheritance in all eleven childhood types. These occur world-wide but may be enriched in some countries. In Finland altogether about 400 patients have been diagnosed during the last forty years.
P, Santavuori, L, Lauronen, E, Kirveskari, L, Aberg, K, Sainio, T, Autti   +5 more
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Neuronal ceroid lipofuscinoses: research update

Neurological Sciences, 2000
This study describes the phenotype/genotype analysis of 159 probands with neuronal ceroid lipofuscinosis (37 CLN1, 72 classic CLN2, 10 variant LINCL, and 40 CLN3) collected at the New York State Institute for Basic Research in Developmental Disabilities (IBR).
K E, Wisniewski, E, Kida, F, Connell, N, Zhong   +3 more
openaire   +2 more sources