✦ LIBER ✦

Novel mutation in ATP13A2 widens the spectrum of Kufor-Rakeb syndrome (PARK9)

✍ Scribed by H Eiberg; L Hansen; L Korbo; IM Nielsen; K Svenstrup; S Bech; LH Pinborg; L Friberg; LE Hjermind; OR Olsen; JE Nielsen

Book ID: 117948282
Publisher: John Wiley and Sons
Year: 2011
Tongue: English
Weight: 794 KB
Volume: 82
Category: Article
ISSN: 0009-9163
DOI: 10.1111/j.1399-0004.2011.01745.x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Clinical spectrum of Kufor-Rakeb syndrom

Clinical spectrum of Kufor-Rakeb syndrome in the Chilean kindred with ATP13A2 mutations

✍ Maria I. Behrens; Norbert Brüggemann; Pedro Chana; Pablo Venegas; Marianne Kägi; 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 207 KB

## Abstract We report the clinical features of the original Chilean family with Kufor‐Rakeb syndrome (KRS) that led to the discovery of the __ATP13A2__ gene at the PARK9 locus. KRS is a rare juvenile‐onset autosomal recessive disease characterized by progressive Parkinsonism, pyramidal signs, and c

55. Mutations in PARK9 (ATP13A2) causing

55. Mutations in PARK9 (ATP13A2) causing Kufor-Rakeb syndrome, provide insights into cellular dysfunction in Parkinson’s disease

✍ Jin-Sung Park; Carolyn M Sue 📂 Article 📅 2010 🏛 Elsevier Science 🌐 English ⚖ 44 KB

Pathogenic effects of novel mutations in

Pathogenic effects of novel mutations in the P-type ATPase ATP13A2 (PARK9) causing Kufor-Rakeb syndrome, a form of early-onset parkinsonism

✍ Jin-Sung Park; Prachi Mehta; Antony A. Cooper; David Veivers; André Heimbach; Ba 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 450 KB 👁 1 views

Kufor-Rakeb syndrome (KRS) is a rare form of autosomal recessive juvenile or early-onset, levodopa responsive parkinsonism and has been associated with mutations in ATP13A2(also known as PARK9), a lysosomal type 5 P-type ATPase. Recently, we identified novel compound heterozygous mutations, c.3176T4

215. Pathogenic effects of novel mutatio

215. Pathogenic effects of novel mutations in ATP13A2 (PARK9) Causing Kufor-Rakeb Syndrome, an Autosomal Recessive Form of Early-onset Parkinsonism

✍ Jin-Sung Park; Neil Manwaring; Victor S. Fung; Carolyn M. Sue 📂 Article 📅 2009 🏛 Elsevier Science 🌐 English ⚖ 40 KB

Altered apoptosis regulation in Kufor–Ra

Altered apoptosis regulation in Kufor–Rakeb syndrome patients with mutations in the ATP13A2 gene

✍ Elena Radi; Patrizia Formichi; Giuseppe Di Maio; Carla Battisti; Antonio Federic 📂 Article 📅 2012 🏛 Carol Davila University of Medicine Bucharest, Rom 🌐 English ⚖ 763 KB

117. Clinical, neurophysiological and ge

117. Clinical, neurophysiological and genetic observations in kufor-rakeb syndrome: report of a new kindred with compound heterozygous mutations in the ATP13A2 Gene

✍ Victor S.C. Fung; Prachi Mehta; Neil Manwaring; Carolyn M. Sue; Christian Kubisc 📂 Article 📅 2009 🏛 Elsevier Science 🌐 English ⚖ 40 KB