✦ LIBER ✦

Characterisation of two deletions involving NPC1 and flanking genes in Niemann–Pick Type C disease patients

✍ Scribed by Laura Rodríguez-Pascau; Claudio Toma; Judit Macías-Vidal; Mónica Cozar; Bru Cormand; Lilia Lykopoulou; Maria Josep Coll; Daniel Grinberg; Lluïsa Vilageliu

Book ID: 118507204
Publisher: Elsevier Science
Year: 2012
Tongue: English
Weight: 479 KB
Volume: 107
Category: Article
ISSN: 1096-7192
DOI: 10.1016/j.ymgme.2012.10.004

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

NPC1 gene mutations in Japanese patients

NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C

✍ T. Yamamoto; E. Nanba; H. Ninomiya; K. Higaki; H. Zhang; S. Akaboshi; Y. Watanab 📂 Article 📅 1999 🏛 Springer 🌐 English ⚖ 171 KB

Mutations in NPC1 in two Brazilian patie

Mutations in NPC1 in two Brazilian patients with Niemann-Pick disease type C and progressive supranuclear palsy-like presentation

✍ Clécio Godeiro-Júnior; Riguel Jun Inaoka; Marcelo Rocha Barbosa; Maria Regina Re 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 63 KB

t.i.d. was started and valproate was stopped. Over the next few weeks, however, no improvement was noted. At that time, the hypothesis of parkinsonism due to lamotrigine was raised. To investigate this hypothesis, the treatment with lamotrigine was stopped, which resulted in clear improvements over

Diagnosis of Niemann-Pick disease type C

Diagnosis of Niemann-Pick disease type C with 7-ketocholesterol screening followed by NPC1/NPC2 gene mutation confirmation in Chinese patients

✍ Zhang, Huiwen; Wang, Yu; Lin, Na; Yang, Rui; Qiu, Wenjuan; Han, Lianshu; Ye, Jun 📂 Article 📅 2014 🏛 BioMed Central 🌐 English ⚖ 358 KB

Disorder of cell cholesterol traffic in

Disorder of cell cholesterol traffic in Niemann-Pick type C disease: Analysis of mutations of NPC-1 gene

📂 Article 📅 2002 🏛 Elsevier Science 🌐 English ⚖ 167 KB

Neurological phenotypes in Niemann-Pick

Neurological phenotypes in Niemann-Pick disease type C (NPC): clinical, biochemical and neuroradiological retrospective review of 48 Brazilian patients

✍ Lourenco, Charles M.; Van Der Linden, Vanessa; Santos, Mara L.S.F.; Ribeiro, Erl 📂 Article 📅 2014 🏛 Elsevier Science 🌐 English ⚖ 64 KB

Niemann-Pick Disease Type C: Spectrum of

Niemann-Pick Disease Type C: Spectrum of HE1 Mutations and Genotype/Phenotype Correlations in the NPC2 Group

✍ Gilles Millat; Karim Chikh; Saule Naureckiene; David E. Sleat; Anthony H. Fensom 📂 Article 📅 2001 🏛 American Society of Human Genetics 🌐 English ⚖ 385 KB