Results 101 to 110 of about 1,809 (153)

Neuronal Ceroid-lipofuscinoses

NO TO HATATSU, 1972
openaire   +1 more source

PPARα and RXRα in the regulation of neuronal ceroid lipofuscinosis genes: implications for Batten disease therapy. [PDF]

NeuroImmune Pharm Ther
Chandra S, Pahan K.
europepmc   +1 more source

Topiramate-Responsive Myoclonic Status Epilepticus in a Child with Progressive Myoclonus Epilepsy Due to Neuronal Ceroid Lipofuscinosis Type 8: A Case Report. [PDF]

Yonago Acta Med
Tsuchie H, Kawanami Y, Yoshino G, Okanishi T, Maegaki Y.   +4 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

Neurodegenerative Diseases in Children: A Comprehensive Review. [PDF]

Int J Mol Sci
Ailioaie C, Ailioaie LM, Stan CI, Sava A, Chiran DA.   +4 more
europepmc   +1 more source

Neuronal Ceroid Lipofuscinosis-like Disorder in a Dachshund with Sequence Variants in Lysosome-Related Genes. [PDF]

Genes (Basel)
Coates JR, Keyes K, Whiting REH, Kuroki J, Morgan-Jack B, Mhlanga-Mutangadura T, Kuroki K, Katz ML.   +7 more
europepmc   +1 more source

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Progress in Neuropathology of the Neuronal Ceroid Lipofuscinoses

Molecular Genetics and Metabolism, 1999
Since the last, 6th, International Congress on Neuronal Ceroid-Lipofuscinoses, neuropathological advances in neuronal ceroid lipofuscinoses (NCL) have been made in several areas: (1) In adult NCL (ANCL) lipopigments have now been repeatedly confirmed to contain subunit c of mitochondrial ATP synthase and even sphingolipid activators (saposins).
Alfried Kohlschütter, Wolfgang Bruck, Sydney S Schochet   +2 more
exaly   +3 more sources

Prenatal diagnosis of neuronal ceroid-lipofuscinoses

American Journal of Medical Genetics Part A, 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.
J Zonana
exaly   +3 more sources