Results 141 to 150 of about 3,421 (195)

Therapeutic approaches to the challenge of neuronal ceroid lipofuscinoses. [PDF]

Curr Pharm Biotechnol, 2011
Kohan R, Cismondi IA, Oller-Ramirez AM, Guelbert N, Anzolini TV, Alonso G, Mole SE, de Kremer DR, de Halac NI.   +8 more
europepmc   +1 more source

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

Retinal degeneration and immunomodulation in juvenile Neuronal Ceroid Lipofuscinosis (jNCL) mice [PDF]

, 2018
Dannhausen, Katharina
core  

Neural stem cells for disease modeling and evaluation of therapeutics for Tay-Sachs disease [PDF]

, 2018
et al,, Jiang, Xuntian, Ory, Daniel S
core   +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