Literature DB >> 17035052

Neuronal ceroid lipofuscinoses (NCL).

Sara E Mole1.   

Abstract

Entities:  

Mesh：

Year:  2006        PMID： 17035052     DOI： 10.1016/j.ejpn.2006.08.009

Source DB:  PubMed          Journal:  Eur J Paediatr Neurol        ISSN： 1090-3798            Impact factor:   3.140


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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.  Simultaneous characterization of glyco- and phosphoproteomes of mouse brain membrane proteome with electrostatic repulsion hydrophilic interaction chromatography.

Authors:  Huoming Zhang; Tiannan Guo; Xin Li; Arnab Datta; Jung Eun Park; Jie Yang; Sai Kiang Lim; James P Tam; Siu Kwan Sze
Journal:  Mol Cell Proteomics       Date:  2010-01-04       Impact factor: 5.911

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.  Neuronal ceroid lipofuscinosis caused by MFSD8 mutations: a common theme emerging.

Authors:  M A Aldahmesh; Z N Al-Hassnan; M Aldosari; F S Alkuraya
Journal:  Neurogenetics       Date:  2009-03-10       Impact factor: 2.660

5.  Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis.

Authors:  Samuel F Berkovic; Leanne M Dibbens; Alicia Oshlack; Jeremy D Silver; Marina Katerelos; Danya F Vears; Renate Lüllmann-Rauch; Judith Blanz; Ke Wei Zhang; Jim Stankovich; Renate M Kalnins; John P Dowling; Eva Andermann; Frederick Andermann; Enrico Faldini; Rudi D'Hooge; Lata Vadlamudi; Richard A Macdonell; Bree L Hodgson; Marta A Bayly; Judy Savige; John C Mulley; Gordon K Smyth; David A Power; Paul Saftig; Melanie Bahlo
Journal:  Am J Hum Genet       Date:  2008-02-28       Impact factor: 11.025

6.  Intracranial delivery of AAV9 gene therapy partially prevents retinal degeneration and visual deficits in CLN6-Batten disease mice.

Authors:  Katherine A White; Hemanth R Nelvagal; Timothy A Poole; Bin Lu; Tyler B Johnson; Samantha Davis; Melissa A Pratt; Jon Brudvig; Ana B Assis; Shibi Likhite; Kathrin Meyer; Brian K Kaspar; Jonathan D Cooper; Shaomei Wang; Jill M Weimer
Journal:  Mol Ther Methods Clin Dev       Date:  2021-01-05       Impact factor: 6.698

7.  Neuronal Ceroid Lipofuscinosis Type 6 (CLN6) clinical findings and molecular diagnosis: Costa Rica's experience.

Authors:  R Badilla-Porras; A Echeverri-McCandless; J M Weimer; A Ulate-Campos; A Soto-Rodríguez; A Gutiérrez-Mata; L Hernández-Con; S Bogantes-Ledezma; A Balmaceda-Meza; J Brudvig; A Sanabria-Castro
Journal:  Orphanet J Rare Dis       Date:  2022-01-10       Impact factor: 4.123

8.  CLN6 disease caused by the same mutation originating in Pakistan has varying pathology.

Authors:  Rita Guerreiro; Jose T Bras; Mariana Vieira; Varun Warrier; Shakti Agrawal; Helen Stewart; Glenn Anderson; Sara E Mole
Journal:  Eur J Paediatr Neurol       Date:  2013-06-02       Impact factor: 3.140
  8 in total

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