✦ LIBER ✦

NovelPANK2gene mutations in two Chinese siblings with atypical pantothenate kinase-associated neurodegeneration

✍ Scribed by Jingli Shan,Bing Wen,Jun Zhu,Pengfei Lin,Jinfan Zheng…

Book ID: 126347699
Publisher: Springer Milan
Year: 2012
Tongue: English
Weight: 267 KB
Volume: 34
Category: Article
ISSN: 1590-1874
DOI: 10.1007/s10072-012-1177-8

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Novel compound heterozygous mutations in

Novel compound heterozygous mutations in the PANK2 gene in a Chinese patient with atypical pantothenate kinase-associated neurodegeneration

✍ Yu-hu Zhang; Bei-sha Tang; Ai-ling Zhao; Kun Xia; Zhi-gao Long; Ji-feng Guo; Sha 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 81 KB

## Abstract We investigated the presence of mutations in the pantothenate kinase (__PANK2__) gene in a 27‐year‐old male Chinese patient with atypical pantothenate kinase‐associated neurodegeneration (PKAN), formerly Hallervorden‐Spatz syndrome. Automated DNA sequence analyses revealed compound hete

Pantothenate kinase-associated neurodege

Pantothenate kinase-associated neurodegeneration in two Taiwanese siblings: Identification of a novel PANK2 gene mutation

✍ Yih-Ru Wu; Chiung-Mei Chen; Chih-Ying Chao; Ron-Kuo Lyu; Guey-Jen Lee-Chen 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 302 KB

A novel gene mutation in PANK2 in a pati

A novel gene mutation in PANK2 in a patient with an atypical form of pantothenate kinase-associated neurodegeneration

✍ Pérez-González, E.A.; Chacón-Camacho, O.F.; Arteaga-Vázquez, J.; Zenteno, J.C.; 📂 Article 📅 2013 🏛 Elsevier Science 🌐 English ⚖ 822 KB

Hallervorden Spatz syndrome (pantothenat

Hallervorden Spatz syndrome (pantothenate kinase associated neurodegeneration) in two Sardinian brother with homozygous mutation in PANK 2 gene

✍ Giovanni Cossu; Maurizio Melis; Gianluca Floris; Susan J. Hayflick; Andrea Spiss 📂 Article 📅 2002 🏛 Springer 🌐 English ⚖ 113 KB

Pantothenate kinase 2 mutation with clas

Pantothenate kinase 2 mutation with classic pantothenate-kinase-associated neurodegeneration without ‘eye-of-the-tiger’ sign on MRI in a pair of siblings

✍ Zarazuela Zolkipli; Hisham Dahmoush; Dawn E. Saunders; W. K. Kling Chong; Robert 📂 Article 📅 2006 🏛 Springer-Verlag 🌐 English ⚖ 172 KB

Novel homozygous PANK2 mutation causing

Novel homozygous PANK2 mutation causing atypical pantothenate kinase-associated neurodegeneration (PKAN) in a Cypriot family

✍ Tanteles, George A.; Spanou-Aristidou, Elena; Antoniou, Chloe; Christophidou-Ana 📂 Article 📅 2014 🏛 Elsevier Science 🌐 English ⚖ 487 KB