Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6-Reference-Cited by-同舟云学术

Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6

Published:2009-02 Issue:4 Volume:379 Page:892-897
ISSN:0006-291X
Container-title:Biochemical and Biophysical Research Communications
language:en
Short-container-title:Biochemical and Biophysical Research Communications

Author:

Cannelli Natalia,Garavaglia Barbara,Simonati Alessandro,Aiello Chiara,Barzaghi Chiara,Pezzini Francesco,Cilio Maria Roberta,Biancheri Roberta,Morbin Michela,Bernardina Bernardo Dalla,Granata Tiziana,Tessa Alessandra,Invernizzi Federica,Pessagno Alice,Boldrini Renata,Zibordi Federica,Grazian Luisa,Claps Dianela,Carrozzo Rosalba,Mole Sara E.,Nardocci Nardo,Santorelli Filippo M.

Publisher

Elsevier BV

Subject

Cell Biology,Molecular Biology,Biochemistry,Biophysics

Reference20 articles.

1. The neuronal ceroid-lipofuscinoses: from past to present;Haltia;Biochim. Biophys. Acta,2006

2. Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses;Mole;Neurogenetics,2005

3. Molecular genetics of the NCLs—status and perspectives;Siintola;Biochim. Biophys. Acta,2006

4. Neuronal ceroid-lipofuscinoses in Italy: an epidemiological study;Cardona;Am. J. Med. Genet.,1995

5. Revelation of a novel CLN5 mutation in early juvenile neuronal ceroid lipofuscinosis;Cannelli;Neuropediatrics,2007

Cited by 45 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Phenotypic/Genotypic Profile of Children with Neuronal Ceroid Lipofuscinosis in Southern Brazil;Neuropediatrics;2024-06-10

2. Natural History of Neuronal Ceroid Lipofuscinosis Type 6, Late Infantile Disease;Pediatric Neurology;2024-05

3. Cellular Modeling of CLN6 with IPSC-derived Neurons and Glia;2024-01-30

4. Whole Exome Sequencing Identifies Variable Expression of CLN6Variants in PME Affected Families;Epilepsy Research;2023-12

5. Characterization of neuropathology in ovine CLN5 and CLN6 neuronal ceroid lipofuscinoses (Batten disease);Developmental Neurobiology;2023-05-28