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Literature DB >> 25515787

Familial Creutzfeldt-Jakob disease with M232R mutation presented with corticobasal syndrome.

Jung Geol Lim¹, Eungseok Oh, Sangmin Park, Yong-Sun Kim, Aeyoung Lee.

Abstract

Entities: Mutation

Mesh：

Substances：

Year: 2014 PMID： 25515787 DOI： 10.1007/s10072-014-2038-4

Source DB: PubMed Journal: Neurol Sci ISSN： 1590-1874 Impact factor: 3.307

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5 in total

1. Mutation in the prion protein gene at codon 232 in Japanese patients with Creutzfeldt-Jakob disease: a clinicopathological, immunohistochemical and transmission study.

Authors: M Z Hoque; T Kitamoto; H Furukawa; T Muramoto; J Tateishi
Journal: Acta Neuropathol Date: 1996-11 Impact factor: 17.088

2. Prospective 10-year surveillance of human prion diseases in Japan.

Authors: Ichiro Nozaki; Tsuyoshi Hamaguchi; Nobuo Sanjo; Moeko Noguchi-Shinohara; Kenji Sakai; Yosikazu Nakamura; Takeshi Sato; Tetsuyuki Kitamoto; Hidehiro Mizusawa; Fumio Moriwaka; Yusei Shiga; Yoshiyuki Kuroiwa; Masatoyo Nishizawa; Shigeki Kuzuhara; Takashi Inuzuka; Masatoshi Takeda; Shigetoshi Kuroda; Koji Abe; Hiroyuki Murai; Shigeo Murayama; Jun Tateishi; Ichiro Takumi; Susumu Shirabe; Masafumi Harada; Atsuko Sadakane; Masahito Yamada
Journal: Brain Date: 2010-09-20 Impact factor: 13.501

3. Double mutations at codon 180 and codon 232 of the PRNP gene in an apparently sporadic case of Creutzfeldt-Jakob disease.

Authors: S Hitoshi; H Nagura; H Yamanouchi; T Kitamoto
Journal: J Neurol Sci Date: 1993-12-15 Impact factor: 3.181

4. Mutations at codons 178, 200-129, and 232 contributed to the inherited prion diseases in Korean patients.

Authors: Bo-Yeong Choi; Su Yeon Kim; So-Young Seo; Seong Soo A An; Sangyun Kim; Sang-Eun Park; Seung-Han Lee; Yun-Ju Choi; Sang-Jin Kim; Chi-Kyeong Kim; Jun-Sun Park; Young-Ran Ju
Journal: BMC Infect Dis Date: 2009-08-22 Impact factor: 3.090

5. Two different clinical phenotypes of Creutzfeldt-Jakob disease with a M232R substitution.

Authors: Yusei Shiga; Katsuya Satoh; Tetsuyuki Kitamoto; Sigenori Kanno; Ichiro Nakashima; Shigeru Sato; Kazuo Fujihara; Hiroshi Takata; Keigo Nobukuni; Shigetoshi Kuroda; Hiroki Takano; Yoshitaka Umeda; Hidehiko Konno; Kunihiko Nagasato; Akira Satoh; Yoshito Matsuda; Mitsuru Hidaka; Hirokatsu Takahashi; Yasuteru Sano; Kang Kim; Takashi Konishi; Katsumi Doh-ura; Takeshi Sato; Kensuke Sasaki; Yoshikazu Nakamura; Masahito Yamada; Hidehiro Mizusawa; Yasuo Itoyama
Journal: J Neurol Date: 2007-11-02 Impact factor: 6.682

5 in total

Familial Creutzfeldt-Jakob disease with M232R mutation presented with corticobasal syndrome.

1. Mutation in the prion protein gene at codon 232 in Japanese patients with Creutzfeldt-Jakob disease: a clinicopathological, immunohistochemical and transmission study.

2. Prospective 10-year surveillance of human prion diseases in Japan.

3. Double mutations at codon 180 and codon 232 of the PRNP gene in an apparently sporadic case of Creutzfeldt-Jakob disease.

4. Mutations at codons 178, 200-129, and 232 contributed to the inherited prion diseases in Korean patients.

5. Two different clinical phenotypes of Creutzfeldt-Jakob disease with a M232R substitution.

Review 1. Genetics Underlying Atypical Parkinsonism and Related Neurodegenerative Disorders.

2. A Corticobasal Syndrome Variant of Familial Creutzfeldt-Jakob Disease with Stroke-Like Onset.

3. Novel prion mutation (p.Tyr225Cys) in a Korean patient with atypical Creutzfeldt-Jakob disease.

Review 4. Unravelling Genetic Factors Underlying Corticobasal Syndrome: A Systematic Review.

Review 5. Neuropathology and emerging biomarkers in corticobasal syndrome.