Literature DB >> 22220808

Variant late-infantile neuronal ceroid lipofuscinosis due to a novel heterozygous CLN8 mutation and de novo 8p23.3 deletion.

N M Allen, B O'hIci, G Anderson, T Nestor, S Ann Lynch, M D King.   

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Year:  2011        PMID： 22220808     DOI： 10.1111/j.1399-0004.2011.01777.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  10 in total

Review 1.  Therapeutic landscape for Batten disease: current treatments and future prospects.

Authors:  Tyler B Johnson; Jacob T Cain; Katherine A White; Denia Ramirez-Montealegre; David A Pearce; Jill M Weimer
Journal:  Nat Rev Neurol       Date:  2019-03       Impact factor: 42.937

2.  CLN8 disease caused by large genomic deletions.

Authors:  Clare Beesley; Rita J Guerreiro; Jose T Bras; Ruth E Williams; Ana Lia Taratuto; Christin Eltze; Sara E Mole
Journal:  Mol Genet Genomic Med       Date:  2016-11-23       Impact factor: 2.183

3.  Atypical presentation of neuronal ceroid lipofuscinosis type 8 in a sibling pair and review of the eye findings and neurological features.

Authors:  Rossana L Sanchez; Jiong Yan; Sarah Richards; Gary Mierau; Eric P Wartchow; Christin D Collins; Suma P Shankar
Journal:  Am J Ophthalmol Case Rep       Date:  2016-08-27

4.  Identification of two novel null variants in CLN8 by targeted next-generation sequencing: first report of a Chinese patient with neuronal ceroid lipofuscinosis due to CLN8 variants.

Authors:  Zhijie Gao; Hua Xie; Qian Jiang; Nan Wu; Xiaoli Chen; Qian Chen
Journal:  BMC Med Genet       Date:  2018-02-08       Impact factor: 2.103

5.  Retinal degeneration in mice and humans with neuronal ceroid lipofuscinosis type 8.

Authors:  Elyse M Salpeter; Brian C Leonard; Antonio J Lopez; Christopher J Murphy; Sara Thomasy; Denise M Imai; Kristin Grimsrud; K C Kent Lloyd; Jiong Yan; Rossana Sanchez Russo; Suma P Shankar; Ala Moshiri
Journal:  Ann Transl Med       Date:  2021-08

Review 6.  Detection of Structural Variants by NGS: Revealing Missing Alleles in Lysosomal Storage Diseases.

Authors:  Valentina La Cognata; Sebastiano Cavallaro
Journal:  Biomedicines       Date:  2022-07-29

7.  CLN8 Gene Compound Heterozygous Variants: A New Case and Protein Bioinformatics Analyses.

Authors:  Rajech Sharkia; Abdelnaser Zalan; Hazar Zahalka; Amit Kessel; Ayman Asaly; Wasif Al-Shareef; Muhammad Mahajnah
Journal:  Genes (Basel)       Date:  2022-08-05       Impact factor: 4.141

8.  Inherited unbalanced translocation (4p16.3p15.32 duplication/8p23.3p23.2deletion) in the four generation pedigree with intellectual disability/developmental delay.

Authors:  Dongmei Hao; Yajuan Li; Lisha Chen; Xiliang Wang; Mengxing Wang; Yuexin Yu
Journal:  Mol Cytogenet       Date:  2021-07-08       Impact factor: 2.009

9.  CLN8 Mutations Presenting with a Phenotypic Continuum of Neuronal Ceroid Lipofuscinosis-Literature Review and Case Report.

Authors:  Magdalena Badura-Stronka; Anna Winczewska-Wiktor; Anna Pietrzak; Adam Sebastian Hirschfeld; Tomasz Zemojtel; Katarzyna Wołyńska; Katarzyna Bednarek-Rajewska; Monika Seget-Dubaniewicz; Agnieszka Matheisel; Anna Latos-Bielenska; Barbara Steinborn
Journal:  Genes (Basel)       Date:  2021-06-23       Impact factor: 4.096

10.  Isolated chromosome 8p23.2‑pter deletion: Novel evidence for developmental delay, intellectual disability, microcephaly and neurobehavioral disorders.

Authors:  Shanshan Shi; Shaobin Lin; Baojiang Chen; Yi Zhou
Journal:  Mol Med Rep       Date:  2017-09-07       Impact factor: 2.952
  10 in total

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