Literature DB >> 17682007

De novo seven extra repeat expanded mutation in the PRNP gene in an Italian patient with early onset dementia.

M Cannella, T Martino, M Simonelli, A Ciammola, R Gradini, A Ciarmiello, F Gianfrancesco, F Squitieri.   

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Year:  2007        PMID： 17682007      PMCID： PMC2095619          DOI： 10.1136/jnnp.2007.121137

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN： 0022-3050            Impact factor:   10.154


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  4 in total

1.  Octapeptide repeat insertions in the prion protein gene and early onset dementia.

Authors:  E A Croes; J Theuns; J J Houwing-Duistermaat; B Dermaut; K Sleegers; G Roks; M Van den Broeck; B van Harten; J C van Swieten; M Cruts; C Van Broeckhoven; C M van Duijn
Journal:  J Neurol Neurosurg Psychiatry       Date:  2004-08       Impact factor: 10.154

Review 2.  A case with a 120 base pair insertional mutation in the prion protein gene: the first case in Japan.

Authors:  G Beck; T Kawano; I Naba; T Nishimura; J Sawada; T Hazama
Journal:  J Neurol Neurosurg Psychiatry       Date:  2005-05       Impact factor: 10.154

3.  Prominent psychiatric features and early onset in an inherited prion disease with a new insertional mutation in the prion protein gene.

Authors:  J L Laplanche; K H Hachimi; I Durieux; P Thuillet; L Defebvre; N Delasnerie-Lauprêtre; K Peoc'h; J F Foncin; A Destée
Journal:  Brain       Date:  1999-12       Impact factor: 13.501

4.  Transmissible familial Creutzfeldt-Jakob disease associated with five, seven, and eight extra octapeptide coding repeats in the PRNP gene.

Authors:  L G Goldfarb; P Brown; W R McCombie; D Goldgaber; G D Swergold; P R Wills; L Cervenakova; H Baron; C J Gibbs; D C Gajdusek
Journal:  Proc Natl Acad Sci U S A       Date:  1991-12-01       Impact factor: 11.205
  4 in total
  4 in total

Review 1.  Genetic PrP Prion Diseases.

Authors:  Mee-Ohk Kim; Leonel T Takada; Katherine Wong; Sven A Forner; Michael D Geschwind
Journal:  Cold Spring Harb Perspect Biol       Date:  2018-05-01       Impact factor: 10.005

Review 2.  De novo mutations in neurological and psychiatric disorders: effects, diagnosis and prevention.

Authors:  Julie Gauthier; Guy A Rouleau
Journal:  Genome Med       Date:  2012-09-25       Impact factor: 11.117

Review 3.  A novel seven-octapeptide repeat insertion in the prion protein gene (PRNP) in a Dutch pedigree with Gerstmann-Sträussler-Scheinker disease phenotype: comparison with similar cases from the literature.

Authors:  Casper Jansen; Willem Voet; Mark W Head; Piero Parchi; Helen Yull; Aad Verrips; Pieter Wesseling; Jan Meulstee; Frank Baas; Willem A van Gool; James W Ironside; Annemieke J M Rozemuller
Journal:  Acta Neuropathol       Date:  2010-03-03       Impact factor: 17.088

4.  The Features of Genetic Prion Diseases Based on Chinese Surveillance Program.

Authors:  Qi Shi; Wei Zhou; Cao Chen; Bao-Yun Zhang; Kang Xiao; Xiu-Chun Zhang; Xiao-Jing Shen; Qing Li; Li-Quan Deng; Jian-Hua Dong; Wen-Qing Lin; Pu Huang; Wei-Jia Jiang; Jie Lv; Jun Han; Xiao-Ping Dong
Journal:  PLoS One       Date:  2015-10-21       Impact factor: 3.240
  4 in total

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