Literature DB >> 26032578

A novel CLN2/TPP1 mutation in a patient with late infantile neuronal ceroid lipofuscinosis.

Feng Yu1, Xiao-Min Liu1, Yin-He Chen2, Sheng-Quan Zhang3, Kai Wang4.   

Abstract

Entities:  

Keywords:  Ceroid lipofuscinosis neuronal 2; Late infantile neuronal ceroid lipofuscinoses (LINCL); Neuronal ceroid lipofuscinoses (NCL); Novel gene mutation; Tripeptidyl-peptidase 1

Mesh：

Substances：

Year:  2015        PMID： 26032578     DOI： 10.1007/s10072-015-2272-4

Source DB:  PubMed          Journal:  Neurol Sci        ISSN： 1590-1874            Impact factor:   3.307


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  8 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 in Qatar: report of a novel mutation in ceroid-lipofuscinosis, neuronal 5 in the Arab population.

Authors:  Moza K Al-Kowari; Sara Hassan; Mahmoud F El-Said; Tawfeg Ben-Omran; Lars Hedin; Sara E Mole; Ramin Badii
Journal:  J Child Neurol       Date:  2011-03-29       Impact factor: 1.987

3.  Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder.

Authors:  D E Sleat; R M Gin; I Sohar; K Wisniewski; S Sklower-Brooks; R K Pullarkat; D N Palmer; T J Lerner; R M Boustany; P Uldall; A N Siakotos; R J Donnelly; P Lobel
Journal:  Am J Hum Genet       Date:  1999-06       Impact factor: 11.025

4.  A novel c.776_777insA mutation in CLN1 leads to infantile neuronal ceroid lipofuscinosis.

Authors:  Jake N Miller; David A Pearce
Journal:  J Child Neurol       Date:  2013-07-14       Impact factor: 1.987

5.  CLN2/TPP1 deficiency: the novel mutation IVS7-10A>G causes intron retention and is associated with a mild disease phenotype.

Authors:  C Bessa; C A Teixeira; A Dias; M Alves; S Rocha; L Lacerda; L Loureiro; A Guimarães; M G Ribeiro
Journal:  Mol Genet Metab       Date:  2007-10-23       Impact factor: 4.797

6.  A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function.

Authors:  Chiara Vantaggiato; Francesca Redaelli; Sestina Falcone; Cristiana Perrotta; Alessandra Tonelli; Sara Bondioni; Michela Morbin; Daria Riva; Veronica Saletti; Maria C Bonaglia; Roberto Giorda; Nereo Bresolin; Emilio Clementi; Maria Teresa Bassi
Journal:  Hum Mutat       Date:  2009-07       Impact factor: 4.878

7.  CLN6 p.I154del mutation causing late infantile neuronal ceroid lipofuscinosis in a large consanguineous Moroccan family.

Authors:  Ahmed Bouhouche; Wafae Regragui; Elmostafa El Fahime; Naima Bouslam; Rachid Tazi-Ahnini; Marouane Melloul; Ali Benomar; Mohamed Yahyaoui
Journal:  Indian J Pediatr       Date:  2012-11-22       Impact factor: 1.967

8.  A novel CLN2/TPP1 mutation in a Chinese patient with late infantile neuronal ceroid lipofuscinosis.

Authors:  Yu-Liang Wang; Zhi-Yong Zeng; Xing-Wang Song; Zhuo-Fang Hao; Yi-Wu Shi; Bin Tang; Sheng-Qiang Chen; Mei-Mei Gao; Wei Di; Yue-Sheng Long; Yong-Hong Yi; Wei-Ping Liao
Journal:  Neurogenetics       Date:  2010-09-07       Impact factor: 3.017
  8 in total
  4 in total

1.  Advances in clinical neurology through the journal "Neurological Sciences" (2015-2016).

Authors:  Ilaria Di Donato; Antonio Federico
Journal:  Neurol Sci       Date:  2017-01       Impact factor: 3.307

2.  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

3.  Case report: Analysis of novel compound heterozygous TPP1 variants in a Chinese patient with neuronal ceroid lipofuscinosis type 2.

Authors:  Sui-Bing Miao; Hui Guo; De-Xian Kong; Yuan-Yuan Zhao; Shu-Hong Pan; Yan Jiang; Xing Gao; Xiao-Hua Wu
Journal:  Front Genet       Date:  2022-08-31       Impact factor: 4.772

4.  The paediatric rheumatologist and orphan disease - a story without happy ending.

Authors:  Justyna Roszkiewicz; Małgorzata Biernacka-Zielińska; Elżbieta Smolewska
Journal:  Reumatologia       Date:  2016-07-18
  4 in total

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