✦ LIBER ✦

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

✍ Scribed by Giovanni Cossu; Maurizio Melis; Gianluca Floris; Susan J. Hayflick; Andrea Spissu

Book ID: 106091956
Publisher: Springer
Year: 2002
Tongue: English
Weight: 113 KB
Volume: 249
Category: Article
ISSN: 0340-5354
DOI: 10.1007/s00415-002-0865-3

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A novel pantothenate kinase gene (PANK2)

A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome

✍ Zhou, Bing; Westaway, Shawn K.; Levinson, Barbara; Johnson, Monique A.; Gitschie 📂 Article 📅 2001 🏛 Nature Publishing Group 🌐 English ⚖ 836 KB

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

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

Pantothenate kinase-associated neurodege

Pantothenate kinase-associated neurodegeneration: Novel mutations in the PANK2 gene in an Argentinean young woman

✍ Emilia Gatto; Jose L. Etcheverry; Daniela P. Converso; Carla Bidinost; Alberto R 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 903 KB

## Video Wilson's disease (WD) and hypoceruloplasminemia are both autosomal recessive disorders associated with low-serum ceruloplasmin that can cause neurological symptoms. WD is due to a defect in copper transport and WD patients with neurological symptoms typically have copper deposits in the c

Novel PANK2 gene mutations in Korean pat

Novel PANK2 gene mutations in Korean patient with pantothenate kinase-associated neurodegeneration presenting unilateral dystonic tremor

✍ Won Tae Yoon; Won Yong Lee; Hee-Young Shin; Seung-Tae Lee; Chang-Seok Ki 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 287 KB

Novel Mutation in the PANK2 Gene Leads t

Novel Mutation in the PANK2 Gene Leads to Pantothenate Kinase-Associated Neurodegeneration in a Pakistani Family

✍ Danish Saleheen; Tuba Ali; Zarmeneh Aly; Bhojo Khealani; Philippe M. Frossard 📂 Article 📅 2007 🏛 Elsevier Science 🌐 English ⚖ 210 KB