Literature DB >> 34313756

An Unusual Presentation of CLN3-Associated Batten Disease With Classic Histopathologic and Ultrastructural Findings.

Lucy P Evans1,2, Katherine N Gibson-Corley3,4,5, Robert F Mullins3,4, Budd A Tucker3,4, Amy Trent5, Edwin M Stone3,4, Karra A Jones5.   

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Year:  2021        PMID： 34313756      PMCID： PMC8921633          DOI： 10.1093/jnen/nlab064

Source DB:  PubMed          Journal:  J Neuropathol Exp Neurol        ISSN： 0022-3069            Impact factor:   3.685


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  8 in total

Review 1.  Human forms of neuronal ceroid-lipofuscinosis (Batten disease): consensus on diagnostic criteria, Hamburg 1992.

Authors:  A Kohlschütter; R M Gardiner; H H Goebel
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

Review 2.  Clinical challenges and future therapeutic approaches for neuronal ceroid lipofuscinosis.

Authors:  Sara E Mole; Glenn Anderson; Heather A Band; Samuel F Berkovic; Jonathan D Cooper; Sophia-Martha Kleine Holthaus; Tristan R McKay; Diego L Medina; Ahad A Rahim; Angela Schulz; Alexander J Smith
Journal:  Lancet Neurol       Date:  2018-11-21       Impact factor: 44.182

Review 3.  Human NCL Neuropathology.

Authors:  Josefine Radke; Werner Stenzel; Hans H Goebel
Journal:  Biochim Biophys Acta       Date:  2015-05-16

4.  Clinical and magnetic resonance imaging findings in Batten disease: analysis of the major mutation (1.02-kb deletion).

Authors:  I Järvelä; T Autti; S Lamminranta; L Aberg; R Raininko; P Santavuori
Journal:  Ann Neurol       Date:  1997-11       Impact factor: 10.422

Review 5.  The genetic spectrum of human neuronal ceroid-lipofuscinoses.

Authors:  Sara E Mole
Journal:  Brain Pathol       Date:  2004-01       Impact factor: 6.508

6.  Protracted course of juvenile ceroid lipofuscinosis associated with a novel CLN3 mutation (p.Y199X).

Authors:  A Sarpong; G Schottmann; K Rüther; G Stoltenburg; A Kohlschütter; C Hübner; M Schuelke
Journal:  Clin Genet       Date:  2009-05-21       Impact factor: 4.438

Review 7.  CLN3, the protein associated with batten disease: structure, function and localization.

Authors:  Seasson N Phillips; Jared W Benedict; Jill M Weimer; David A Pearce
Journal:  J Neurosci Res       Date:  2005-03-01       Impact factor: 4.433

Review 8.  The CLN3 gene and protein: What we know.

Authors:  Myriam Mirza; Anna Vainshtein; Alberto DiRonza; Uma Chandrachud; Luke J Haslett; Michela Palmieri; Stephan Storch; Janos Groh; Niv Dobzinski; Gennaro Napolitano; Carolin Schmidtke; Danielle M Kerkovich
Journal:  Mol Genet Genomic Med       Date:  2019-09-30       Impact factor: 2.183
  8 in total
  1 in total

Review 1.  Dictyostelium discoideum: A Model System for Neurological Disorders.

Authors:  Claire Louise Storey; Robin Simon Brooke Williams; Paul Robert Fisher; Sarah Jane Annesley
Journal:  Cells       Date:  2022-01-28       Impact factor: 6.600
  1 in total

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