Literature DB >> 8411967

Early juvenile neuronal ceroid-lipofuscinosis or variant Jansky-Bielschowsky disease: diagnostic criteria and nomenclature.

P Santavuori1, J Rapola, R Raininko, T Autti, M Lappi, A Nuutila, J Launes, K Sainio.   

Abstract

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Year:  1993        PMID： 8411967     DOI： 10.1007/bf00710251

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  6 in total

1.  The spectrum of Jansky-Bielschowsky disease.

Authors:  P Santavuori; J Rapola; A Nuutila; R Raininko; M Lappi; J Launes; R Herva; K Sainio
Journal:  Neuropediatrics       Date:  1991-05       Impact factor: 1.947

2.  Jansky-Bielschowsky variant disease: CT, MRI, and SPECT findings.

Authors:  T Autti; R Raininko; J Launes; A Nuutila; P Santavuori
Journal:  Pediatr Neurol       Date:  1992 Mar-Apr       Impact factor: 3.372

3.  Evoked potentials in neuronal ceroid lipofuscinosis.

Authors:  W Tackmann; D Kuhlendahl
Journal:  Eur Neurol       Date:  1979       Impact factor: 1.710

4.  A variant of Jansky-Bielschowsky disease.

Authors:  P Santavuori; J Rapola; K Sainio; C Raitta
Journal:  Neuropediatrics       Date:  1982-08       Impact factor: 1.947

5.  Early-juvenile Batten's disease--a recognisable sub-group distinct from other forms of Batten's disease. Analysis of 5 patients.

Authors:  B D Lake; N P Cavanagh
Journal:  J Neurol Sci       Date:  1978-04       Impact factor: 3.181

6.  Electron microscopic studies on skin and lymphocytes in early juvenile neuronal ceroid-lipofuscinosis.

Authors:  S Kimura; H H Goebel
Journal:  Brain Dev       Date:  1987       Impact factor: 1.961
  6 in total
  5 in total

1.  Progressive thalamocortical neuron loss in Cln5 deficient mice: Distinct effects in Finnish variant late infantile NCL.

Authors:  Carina von Schantz; Catherine Kielar; Stine N Hansen; Charlie C Pontikis; Noreen A Alexander; Outi Kopra; Anu Jalanko; Jonathan D Cooper
Journal:  Neurobiol Dis       Date:  2009-05       Impact factor: 5.996

2.  Defined chromosomal assignment of CLN5 demonstrates that at least four genetic loci are involved in the pathogenesis of human ceroid lipofuscinoses.

Authors:  M Savukoski; M Kestilä; R Williams; I Järvelä; J Sharp; J Harris; P Santavuori; M Gardiner; L Peltonen
Journal:  Am J Hum Genet       Date:  1994-10       Impact factor: 11.025

Review 3.  A lysosomal enigma CLN5 and its significance in understanding neuronal ceroid lipofuscinosis.

Authors:  I Basak; H E Wicky; K O McDonald; J B Xu; J E Palmer; H L Best; S Lefrancois; S Y Lee; L Schoderboeck; S M Hughes
Journal:  Cell Mol Life Sci       Date:  2021-04-01       Impact factor: 9.261

4.  Induced Pluripotent Stem Cells Derived from a CLN5 Patient Manifest Phenotypic Characteristics of Neuronal Ceroid Lipofuscinoses.

Authors:  Kristiina Uusi-Rauva; Tea Blom; Carina von Schantz-Fant; Tomas Blom; Anu Jalanko; Aija Kyttälä
Journal:  Int J Mol Sci       Date:  2017-05-01       Impact factor: 5.923

5.  Deficiency of the Lysosomal Protein CLN5 Alters Lysosomal Function and Movement.

Authors:  Indranil Basak; Rachel A Hansen; Michael E Ward; Stephanie M Hughes
Journal:  Biomolecules       Date:  2021-09-27
  5 in total

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