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Quoted phrase not found in phrase index: "Neuronal ceroid lipofuscinosis 8 northern epilepsy variant"
Page 1
Pheno/genotypic correlations of neuronal ceroid lipofuscinoses.
Wisniewski KE, Zhong N, Philippart M. Wisniewski KE, et al. Neurology. 2001 Aug 28;57(4):576-81. doi: 10.1212/wnl.57.4.576. Neurology. 2001. PMID: 11548735 Review.
The neuronal ceroid lipofuscinoses (NCL) are a large group of autosomal recessive lysosomal storage disorders with both enzymatic deficiency and structural protein dysfunction. ...With research progress, four additional forms have been recognized: 5) Finnish, …
The neuronal ceroid lipofuscinoses (NCL) are a large group of autosomal recessive lysosomal storage disorders with both …
Exome sequencing identifies a novel homozygous CLN8 mutation in a Turkish family with Northern epilepsy.
Sahin Y, Güngör O, Gormez Z, Demirci H, Ergüner B, Güngör G, Dilber C. Sahin Y, et al. Acta Neurol Belg. 2017 Mar;117(1):159-167. doi: 10.1007/s13760-016-0721-3. Epub 2016 Nov 14. Acta Neurol Belg. 2017. PMID: 27844444
Neuronal ceroid lipofuscinosis (NCL), one of the most common neurodegenerative childhood-onset disorders, is characterized by autosomal-recessive inheritance, epileptic seizures, progressive psychomotor deterioration, visual impairment, and premature death. . …
Neuronal ceroid lipofuscinosis (NCL), one of the most common neurodegenerative childhood-onset disorders, is characteri …