## 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
✦ LIBER ✦
Mutations in the pantothenate kinase gene PANK2 are not associated with Parkinson disease
✍ Scribed by Thomas Klopstock; Matthias Elstner; Christoph B. Lücking; Bertram Müller-Myhsok; Thomas Gasser; Evelyn Botz; Peter Lichtner; Konstanze Hörtnagel
- Book ID
- 116767483
- Publisher
- Elsevier Science
- Year
- 2005
- Tongue
- English
- Weight
- 61 KB
- Volume
- 379
- Category
- Article
- ISSN
- 0304-3940
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
Pantothenate kinase-associated neurodege
✍
Emilia Gatto; Jose L. Etcheverry; Daniela P. Converso; Carla Bidinost; Alberto R
📂
Article
📅
2010
🏛
John Wiley and Sons
🌐
English
⚖ 903 KB
Novel PANK2 gene mutations in Korean pat
✍
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 compound heterozygous mutations in
✍
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
Novel Mutation in the PANK2 Gene Leads t
✍
Danish Saleheen; Tuba Ali; Zarmeneh Aly; Bhojo Khealani; Philippe M. Frossard
📂
Article
📅
2007
🏛
Elsevier Science
🌐
English
⚖ 210 KB
Hallervorden Spatz syndrome (pantothenat
✍
Giovanni Cossu; Maurizio Melis; Gianluca Floris; Susan J. Hayflick; Andrea Spiss
📂
Article
📅
2002
🏛
Springer
🌐
English
⚖ 113 KB
Pantothenate kinase-associated neurodege
✍
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