Literature DB >> 4121459

Infantile type of so-called neuronal ceroid-lipofuscinosis. 2. Morphological and biochemical studies.

M Haltia, J Rapola, P Santavuori, A Keränen.   

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Year:  1973        PMID： 4121459     DOI： 10.1016/0022-510x(73)90076-2

Source DB:  PubMed          Journal:  J Neurol Sci        ISSN： 0022-510X            Impact factor:   3.181


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  36 in total

Review 1.  The Finnish Disease Heritage III: the individual diseases.

Authors:  Reijo Norio
Journal:  Hum Genet       Date:  2003-03-08       Impact factor: 4.132

2.  Combination small molecule PPT1 mimetic and CNS-directed gene therapy as a treatment for infantile neuronal ceroid lipofuscinosis.

Authors:  Marie S Roberts; Shannon L Macauley; Andrew M Wong; Denis Yilmas; Sarah Hohm; Jonathan D Cooper; Mark S Sands
Journal:  J Inherit Metab Dis       Date:  2012-02-07       Impact factor: 4.982

Review 3.  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

4.  An unusual type of infantile lipofuscinosis.

Authors:  G A Jervis; S Donahue
Journal:  Acta Neuropathol       Date:  1975       Impact factor: 17.088

5.  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

6.  Low and moderate concentrations of lysobisphosphatidic acid in brain and liver of patients affected by some storage diseases.

Authors:  K Kahma; J Brotherus; M Haltia; O Renkonen
Journal:  Lipids       Date:  1976-07       Impact factor: 1.880

7.  Successive neuron loss in the thalamus and cortex in a mouse model of infantile neuronal ceroid lipofuscinosis.

Authors:  Catherine Kielar; Lucy Maddox; Ellen Bible; Charlie C Pontikis; Shannon L Macauley; Megan A Griffey; Michael Wong; Mark S Sands; Jonathan D Cooper
Journal:  Neurobiol Dis       Date:  2006-10-12       Impact factor: 5.996

8.  A role in vacuolar arginine transport for yeast Btn1p and for human CLN3, the protein defective in Batten disease.

Authors:  Yoojin Kim; Denia Ramirez-Montealegre; David A Pearce
Journal:  Proc Natl Acad Sci U S A       Date:  2003-12-05       Impact factor: 11.205

9.  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

10.  Molecular correlates of axonal and synaptic pathology in mouse models of Batten disease.

Authors:  Catherine Kielar; Thomas M Wishart; Alice Palmer; Sybille Dihanich; Andrew M Wong; Shannon L Macauley; Chun-Hung Chan; Mark S Sands; David A Pearce; Jonathan D Cooper; Thomas H Gillingwater
Journal:  Hum Mol Genet       Date:  2009-07-29       Impact factor: 6.150
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