Literature DB >> 4371326

Infantile type of so-called neuronal ceroid-lipofuscinosis.

P Santavuori, M Haltia, J Rapola.   

Abstract

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Year:  1974        PMID: 4371326     DOI: 10.1111/j.1469-8749.1974.tb04183.x

Source DB:  PubMed          Journal:  Dev Med Child Neurol        ISSN: 0012-1622            Impact factor:   5.449


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  32 in total

Review 1.  Classification and natural history of the neuronal ceroid lipofuscinoses.

Authors:  Jonathan W Mink; Erika F Augustine; Heather R Adams; Frederick J Marshall; Jennifer M Kwon
Journal:  J Child Neurol       Date:  2013-07-09       Impact factor: 1.987

2.  So-called neuronal ceroid lipofuscinosis. Neurophysiological studies in 60 children.

Authors:  G Pampiglione; A Harden
Journal:  J Neurol Neurosurg Psychiatry       Date:  1977-04       Impact factor: 10.154

3.  The role of attenuated astrocyte activation in infantile neuronal ceroid lipofuscinosis.

Authors:  Shannon L Macauley; Milos Pekny; Mark S Sands
Journal:  J Neurosci       Date:  2011-10-26       Impact factor: 6.167

4.  The association of infantile osteopetrosis and neuronal storage disease in two brothers.

Authors:  V Jagadha; W C Halliday; L E Becker; D Hinton
Journal:  Acta Neuropathol       Date:  1988       Impact factor: 17.088

5.  Lipid thioesters derived from acylated proteins accumulate in infantile neuronal ceroid lipofuscinosis: correction of the defect in lymphoblasts by recombinant palmitoyl-protein thioesterase.

Authors:  J Y Lu; L A Verkruyse; S L Hofmann
Journal:  Proc Natl Acad Sci U S A       Date:  1996-09-17       Impact factor: 11.205

6.  Loss of pigment-laden stellate cells: a severe alteration of the isocortex in juvenile neuronal ceroid-lipofuscinosis.

Authors:  H Braak; H H Goebel
Journal:  Acta Neuropathol       Date:  1978-04-26       Impact factor: 17.088

7.  Genetic heterogeneity in neuronal ceroid lipofuscinosis (NCL): evidence that the late-infantile subtype (Jansky-Bielschowsky disease; CLN2) is not an allelic form of the juvenile or infantile subtypes.

Authors:  R Williams; J Vesa; I Järvelä; T McKay; H Mitchison; E Hellsten; A Thompson; D Callen; G Sutherland; D Luna-Battadano
Journal:  Am J Hum Genet       Date:  1993-10       Impact factor: 11.025

8.  Neuronal ceroid lipofuscinosis. Ocular histopathologic and electron microscopic studies in the late infantile, juvenile, and adult forms.

Authors:  E I Traboulsi; W R Green; M W Luckenbach; Z C de la Cruz
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  1987       Impact factor: 3.117

9.  Histochemical localization of palmitoyl protein thioesterase-1 activity.

Authors:  Joshua T Dearborn; Subramania Ramachandran; Charles Shyng; Jui-Yun Lu; Jonah Thornton; Sandra L Hofmann; Mark S Sands
Journal:  Mol Genet Metab       Date:  2015-11-11       Impact factor: 4.797

10.  Mouse palmitoyl protein thioesterase: gene structure and expression of cDNA.

Authors:  T Salonen; E Hellsten; N Horelli-Kuitunen; L Peltonen; A Jalanko
Journal:  Genome Res       Date:  1998-07       Impact factor: 9.043

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