Literature DB >> 12414822

Identification of novel CLN2 mutations shows Canadian specific NCL2 alleles.

W Ju, R Zhong, S Moore, D Moroziewicz, J R Currie, P Parfrey, W T Brown, N Zhong.   

Abstract

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Year:  2002        PMID： 12414822      PMCID： PMC1735024          DOI： 10.1136/jmg.39.11.822

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  7 in total

Review 1.  Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses.

Authors:  Sara E Mole; Ruth E Williams; Hans H Goebel
Journal:  Neurogenetics       Date:  2005-09-28       Impact factor: 2.660

2.  Neuronal ceroid lipofuscinosis type CLN2: a new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America.

Authors:  Romina Kohan; María Noelia Carabelos; Winnie Xin; Katherine Sims; Norberto Guelbert; Inés Adriana Cismondi; Patricia Pons; Graciela Irene Alonso; Mónica Troncoso; Scarlet Witting; David A Pearce; Raquel Dodelson de Kremer; Ana María Oller-Ramírez; Inés Noher de Halac
Journal:  Gene       Date:  2012-12-22       Impact factor: 3.688

3.  Structure-function analysis of Sedolisins: evolution of tripeptidyl peptidase and endopeptidase subfamilies in fungi.

Authors:  Facundo Orts; Arjen Ten Have
Journal:  BMC Bioinformatics       Date:  2018-12-04       Impact factor: 3.169

4.  Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease.

Authors:  Emily Gardner; Mitch Bailey; Angela Schulz; Mikel Aristorena; Nicole Miller; Sara E Mole
Journal:  Hum Mutat       Date:  2019-07-26       Impact factor: 4.878

5.  Cerliponase Alfa for the Treatment of Atypical Phenotypes of CLN2 Disease: A Retrospective Case Series.

Authors:  Eva Wibbeler; Raymond Wang; Emily de Los Reyes; Nicola Specchio; Paul Gissen; Norberto Guelbert; Miriam Nickel; Christoph Schwering; Lenora Lehwald; Marina Trivisano; Laura Lee; Gianni Amato; Jessica Cohen-Pfeffer; Renée Shediac; Fernanda Leal-Pardinas; Angela Schulz
Journal:  J Child Neurol       Date:  2020-12-23       Impact factor: 1.987

6.  Atypical CLN2 with later onset and prolonged course: a neuropathologic study showing different sensitivity of neuronal subpopulations to TPP1 deficiency.

Authors:  Milan Elleder; Lenka Dvoráková; Larisa Stolnaja; Hana Vlásková; Helena Hůlková; Rastislav Druga; Helena Poupetová; Eva Kostálová; Josef Mikulástík
Journal:  Acta Neuropathol       Date:  2008-02-19       Impact factor: 15.887

Review 7.  Using the social amoeba Dictyostelium to study the functions of proteins linked to neuronal ceroid lipofuscinosis.

Authors:  Robert J Huber
Journal:  J Biomed Sci       Date:  2016-11-24       Impact factor: 12.771
  7 in total

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