Literature DB >> 13269595

Progressive familial myoclonic epilepsy in three families: its clinical features and pathological basis.

D G HARRIMAN, J H MILLAR, A C STEVENSON.   

Abstract

Entities:  

Keywords:  EPILEPSY

Mesh：

Year:  1955        PMID： 13269595     DOI： 10.1093/brain/78.3.325

Source DB:  PubMed          Journal:  Brain        ISSN： 0006-8950            Impact factor:   13.501


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  50 in total

1.  MYOCLONUS AND ATAXIA OCCURING IN A FAMILY.

Authors:  H JACOBS
Journal:  J Neurol Neurosurg Psychiatry       Date:  1965-06       Impact factor: 10.154

2.  Histochemical studies on the cerebral lipidoses and other cellular metabolic disorders.

Authors:  D G FREIMAN; B H LANDING
Journal:  Am J Pathol       Date:  1957 Jan-Feb       Impact factor: 4.307

3.  Insights into Lafora disease: malin is an E3 ubiquitin ligase that ubiquitinates and promotes the degradation of laforin.

Authors:  Matthew S Gentry; Carolyn A Worby; Jack E Dixon
Journal:  Proc Natl Acad Sci U S A       Date:  2005-06-01       Impact factor: 11.205

4.  The myocardium in Lafora disease.

Authors:  S Yokoi; Y Aihara; S Maeda
Journal:  Acta Neuropathol       Date:  1975-12-30       Impact factor: 17.088

5.  Myoclonic dystonia.

Authors:  S M Pueschel; J H Friedman; T Shetty
Journal:  Childs Nerv Syst       Date:  1992-03       Impact factor: 1.475

6.  A MYOPATHY PRESENTING IN ADULT LIFE WITH FEATURES SUGGESTIVE OF GLYCOGEN STORAGE DISEASE.

Authors:  J M Holmes; C R Houghton; A L Woolf
Journal:  J Neurol Neurosurg Psychiatry       Date:  1960-11       Impact factor: 10.154

Review 7.  [Lafora disease: a review of the literature].

Authors:  L Desdentado; R Espert; P Sanz; J Tirapu-Ustarroz
Journal:  Rev Neurol       Date:  2019-01-16       Impact factor: 0.870

8.  Structural basis for the glucan phosphatase activity of Starch Excess4.

Authors:  Craig W Vander Kooi; Adam O Taylor; Rachel M Pace; David A Meekins; Hou-Fu Guo; Youngjun Kim; Matthew S Gentry
Journal:  Proc Natl Acad Sci U S A       Date:  2010-08-02       Impact factor: 11.205

9.  STARCH-EXCESS4 is a laforin-like Phosphoglucan phosphatase required for starch degradation in Arabidopsis thaliana.

Authors:  Oliver Kötting; Diana Santelia; Christoph Edner; Simona Eicke; Tina Marthaler; Matthew S Gentry; Sylviane Comparot-Moss; Jychian Chen; Alison M Smith; Martin Steup; Gerhard Ritte; Samuel C Zeeman
Journal:  Plant Cell       Date:  2009-01-13       Impact factor: 11.277

10.  Polysaccharide accumulation in the central nervous system of D-penicillamine-treated rats.

Authors:  A P Jayaraj
Journal:  Acta Neuropathol       Date:  1980       Impact factor: 17.088
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