✦ LIBER ✦

Late Infantile Neuronal Ceroid Lipofuscinosis: A New Mutation in Arabs

✍ Scribed by Hadassa Goldberg-Stern; Ayelet Halevi; Dafna Marom; Rachel Straussberg; Aviva Mimouni-Bloch

Book ID: 116825588
Publisher: Elsevier Science
Year: 2009
Tongue: English
Weight: 192 KB
Volume: 41
Category: Article
ISSN: 0887-8994
DOI: 10.1016/j.pediatrneurol.2009.04.022

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Photoparoxysmal response in late infanti

Photoparoxysmal response in late infantile neuronal ceroid-lipofuscinosis

✍ Sayed Z. Naqvi; Robert L. Beach; Diane M. Armao; Robert S. Greenwood 📂 Article 📅 1998 🏛 Elsevier Science 🌐 English ⚖ 244 KB

Late Infantile Neuronal Ceroid Lipofusci

Late Infantile Neuronal Ceroid Lipofuscinosis in a Tunisian Boy

✍ Tinsa, Faten; Caillaud, Catherine; Jallouli, Manel; Louati, Hela; Bousnina, Dorr 📂 Article 📅 2008 🏛 Informa plc 🌐 English ⚖ 476 KB

A novel mutation in the MFSD8 gene in la

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

✍ E. Stogmann; S. El Tawil; J. Wagenstaller; A. Gaber; S. Edris; A. Abdelhady; E. 📂 Article 📅 2008 🏛 Springer 🌐 English ⚖ 146 KB

Variant Late Infantile Neuronal Ceroid L

Variant Late Infantile Neuronal Ceroid Lipofuscinosis Because of CLN1 Mutations

✍ Alessandro Simonati; Alessandra Tessa; Bernardo Dalla Bernardina; Roberta Bianch 📂 Article 📅 2009 🏛 Elsevier Science 🌐 English ⚖ 264 KB

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

A New Locus for Variant Late Infantile N

A New Locus for Variant Late Infantile Neuronal Ceroid Lipofuscinosis—CLN7

✍ R.B Wheeler; J.D Sharp; W.A Mitchell; S.L Bate; R.E Williams; B.D Lake; R.M Gard 📂 Article 📅 1999 🏛 Elsevier Science 🌐 English ⚖ 29 KB