Literature DB >> 12741032

Neuronal ceroid lipofuscinoses in childhood.

P Santavuori1, L Lauronen, K Kirveskari, L Aberg, K Sainio.   

Abstract

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Year:  2000        PMID： 12741032     DOI： 10.1016/s1567-424x(09)70193-x

Source DB:  PubMed          Journal:  Suppl Clin Neurophysiol        ISSN： 1567-424X


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  8 in total

1.  Juvenile neuronal ceroid lipofuscinosis: clinical course and genetic studies in Spanish patients.

Authors:  María-Socorro Pérez-Poyato; Montserrat Milà Recansens; Isidre Ferrer Abizanda; Raquel Montero Sánchez; Laia Rodríguez-Revenga; Victoria Cusí Sánchez; M Mar García González; Rosario Domingo Jiménez; Rafael Camino León; Ramón Velázquez Fragua; Antonio Martínez-Bermejo; Mercè Pineda Marfà
Journal:  J Inherit Metab Dis       Date:  2011-04-16       Impact factor: 4.982

2.  Topological Alterations of the Structural Brain Connectivity Network in Children with Juvenile Neuronal Ceroid Lipofuscinosis.

Authors:  T Roine; U Roine; A Tokola; M H Balk; M Mannerkoski; L Åberg; T Lönnqvist; T Autti
Journal:  AJNR Am J Neuroradiol       Date:  2019-11-14       Impact factor: 3.825

3.  A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis.

Authors:  E Stogmann; S El Tawil; J Wagenstaller; A Gaber; S Edris; A Abdelhady; E Assem-Hilger; F Leutmezer; S Bonelli; C Baumgartner; F Zimprich; T M Strom; A Zimprich
Journal:  Neurogenetics       Date:  2008-10-11       Impact factor: 2.660

4.  Gene correction of the CLN3 c.175G>A variant in patient-derived induced pluripotent stem cells prevents pathological changes in retinal organoids.

Authors:  Xiao Zhang; Dan Zhang; Jennifer A Thompson; Shang-Chih Chen; Zhiqin Huang; Luke Jennings; Terri L McLaren; Tina M Lamey; John N De Roach; Fred K Chen; Samuel McLenachan
Journal:  Mol Genet Genomic Med       Date:  2021-01-26       Impact factor: 2.183

5.  Human INCL fibroblasts display abnormal mitochondrial and lysosomal networks and heightened susceptibility to ROS-induced cell death.

Authors:  Bailey Balouch; Halle Nagorsky; Truc Pham; James Thai LaGraff; Quynh Chu-LaGraff
Journal:  PLoS One       Date:  2021-02-09       Impact factor: 3.240

6.  Molecular correlates of axonal and synaptic pathology in mouse models of Batten disease.

Authors:  Catherine Kielar; Thomas M Wishart; Alice Palmer; Sybille Dihanich; Andrew M Wong; Shannon L Macauley; Chun-Hung Chan; Mark S Sands; David A Pearce; Jonathan D Cooper; Thomas H Gillingwater
Journal:  Hum Mol Genet       Date:  2009-07-29       Impact factor: 6.150

7.  In a model of Batten disease, palmitoyl protein thioesterase-1 deficiency is associated with brown adipose tissue and thermoregulation abnormalities.

Authors:  Alfia Khaibullina; Nicholas Kenyon; Virginia Guptill; Martha M Quezado; Li Wang; Deloris Koziol; Robert Wesley; Pablo R Moya; Zhongjian Zhang; Arjun Saha; Anil B Mukherjee; Zenaide M N Quezado
Journal:  PLoS One       Date:  2012-11-06       Impact factor: 3.240

8.  Spinal manifestations of CLN1 disease start during the early postnatal period.

Authors:  H R Nelvagal; J T Dearborn; J R Ostergaard; M S Sands; J D Cooper
Journal:  Neuropathol Appl Neurobiol       Date:  2020-09-07       Impact factor: 8.090
  8 in total

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