✦ LIBER ✦

Same gene, surprising difference: adult neuronal ceroid lipofuscinosis linked to CLN6, mutated in variant late-infantile form

✍ Scribed by C Kay

Book ID: 110889304
Publisher: John Wiley and Sons
Year: 2011
Tongue: English
Weight: 629 KB
Volume: 80
Category: Article
ISSN: 0009-9163
DOI: 10.1111/j.1399-0004.2011.01761.x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Spectrum of CLN6 mutations in variant la

Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis

✍ Julie D. Sharp; Ruth B. Wheeler; Keith A. Parker; R. Mark Gardiner; Ruth E. Will 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 171 KB

The neuronal ceroid lipofuscinoses (NCLs) are a group of autosomal recessive neurodegenerative diseases of childhood. CLN6, the gene mutated in variant late infantile NCL (vLINCL), was recently cloned. We report the identification of eight further mutations in CLN6 making a total of 18 reported muta

Variant Late Infantile Neuronal Ceroid L

Variant Late Infantile Neuronal Ceroid Lipofuscinosis (CLN6 Gene) in Saudi Arabia

✍ Mohammad A. Al-Muhaizea; Zuhair N. Al-Hassnan; Aziza Chedrawi 📂 Article 📅 2009 🏛 Elsevier Science 🌐 English ⚖ 71 KB

Novel mutations in the CLN6 gene causing

Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosis

✍ Carla A. Teixeira; Janice Espinola; Liang Huo; Johannes Kohlschütter; Dixie-Ann 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 185 KB

The neuronal ceroid lipofuscinoses (NCLs) are a heterogeneous group of autosomal recessive neurodegenerative diseases comprising Batten and other related diseases plus numerous variants. They are characterized by progressive neuronal cell death. The CLN6 gene was recently identified, mutations in wh

Late Infantile Neuronal Ceroid Lipofusci

Late Infantile Neuronal Ceroid Lipofuscinosis Is Due to Splicing Mutations in the CLN2 Gene

✍ Jaana M. Hartikainen; Weina Ju; Krystyna E. Wisniewski; Dorota N. Moroziewicz; A 📂 Article 📅 1999 🏛 Elsevier Science 🌐 English ⚖ 384 KB

CLN5, a novel gene encoding a putative t

CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis

✍ Peltonen, Leena; Savukoski, Minna; Klockars, Tuomas; Holmberg, Ville; Santavuori 📂 Article 📅 1998 🏛 Nature Publishing Group 🌐 English ⚖ 109 KB

The Gene Mutated in Variant Late-Infanti

The Gene Mutated in Variant Late-Infantile Neuronal Ceroid Lipofuscinosis (CLN6) and in nclf Mutant Mice Encodes a Novel Predicted Transmembrane Protein

✍ Ruth B. Wheeler; Julie D. Sharp; Roger A. Schultz; John M. Joslin; Ruth E. Willi 📂 Article 📅 2002 🏛 American Society of Human Genetics 🌐 English ⚖ 616 KB