Literature DB >> 9288090

What is expanded in progressive myoclonus epilepsy?

M D Lalioti, H S Scott, S E Antonarakis.   

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Year:  1997        PMID: 9288090     DOI: 10.1038/ng0997-17

Source DB:  PubMed          Journal:  Nat Genet        ISSN: 1061-4036            Impact factor:   38.330


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  3 in total

1.  A PCR amplification method reveals instability of the dodecamer repeat in progressive myoclonus epilepsy (EPM1) and no correlation between the size of the repeat and age at onset.

Authors:  M D Lalioti; H S Scott; P Genton; D Grid; R Ouazzani; A M'Rabet; S Ibrahim; R Gouider; C Dravet; T Chkili; A Bottani; C Buresi; A Malafosse; S E Antonarakis
Journal:  Am J Hum Genet       Date:  1998-04       Impact factor: 11.025

2.  Progressive volume loss and white matter degeneration in cstb-deficient mice: a diffusion tensor and longitudinal volumetry MRI study.

Authors:  Otto Manninen; Teemu Laitinen; Kimmo K Lehtimäki; Saara Tegelberg; Anna-Elina Lehesjoki; Olli Gröhn; Outi Kopra
Journal:  PLoS One       Date:  2014-03-06       Impact factor: 3.240

3.  Brain inflammation is accompanied by peripheral inflammation in Cstb -/- mice, a model for progressive myoclonus epilepsy.

Authors:  Olesya Okuneva; Zhilin Li; Inken Körber; Saara Tegelberg; Tarja Joensuu; Li Tian; Anna-Elina Lehesjoki
Journal:  J Neuroinflammation       Date:  2016-11-28       Impact factor: 8.322

  3 in total

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