Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: another genetic hit in the Mediterranean-Reference-Cited by-同舟云学术

Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: another genetic hit in the Mediterranean

Published:2006-03-29 Issue:2 Volume:7 Page:111-117
ISSN:1364-6745
Container-title:Neurogenetics
language:en
Short-container-title:Neurogenetics

Author:

Cannelli Natalia,Cassandrini Denise,Bertini Enrico,Striano Pasquale,Fusco Lucia,Gaggero Roberto,Specchio Nicola,Biancheri Roberta,Vigevano Federico,Bruno Claudio,Simonati Alessandro,Zara Federico,Santorelli Filippo M.

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s10048-005-0024-y.pdf

Reference18 articles.

1. Mole SE, Williams RE, Goebel HH (2005) Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses. Neurogenetics 6:107–126

2. Weimer JM, Kriscenski-Perry E, Elshatory Y, Pearce DA (2002) The neuronal ceroid lipofuscinoses: mutations in different proteins result in similar disease. Neuromolecular Med 1:111–124

3. Haltia M (2003) The neuronal ceroid-lipofuscinoses. J Neuropathol Exp Neurol 62:1–13

4. Cardona F, Rosati E (1995) Neuronal ceroid-lipofuscinoses in Italy: an epidemiological study. Am J Med Genet 57:142–143

5. Schulz A, Dhar S, Rylova S, Dbaibo G, Alroy J, Hagel C, Artacho I, Kohlschutter A, Lin S, Boustany RM (2004) Impaired cell adhesion and apoptosis in a novel CLN9 Batten disease variant. Ann Neurol 56:342–350

Cited by 43 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. Lysosomal Dysfunction: Connecting the Dots in the Landscape of Human Diseases;Biology;2024-01-07

3. CLN8 Gene Compound Heterozygous Variants: A New Case and Protein Bioinformatics Analyses;Genes;2022-08-05

4. CLN8 Mutations Presenting with a Phenotypic Continuum of Neuronal Ceroid Lipofuscinosis—Literature Review and Case Report;Genes;2021-06-23

5. AAV9 Gene Therapy Increases Lifespan and Treats Pathological and Behavioral Abnormalities in a Mouse Model of CLN8-Batten Disease;Molecular Therapy;2021-01