Literature DB >> 3088452

Progressive myoclonus epilepsies: specific causes and diagnosis.

S F Berkovic, F Andermann, S Carpenter, L S Wolfe.   

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Year:  1986        PMID: 3088452     DOI: 10.1056/NEJM198607313150506

Source DB:  PubMed          Journal:  N Engl J Med        ISSN: 0028-4793            Impact factor:   91.245


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  48 in total

1.  Ramsay Hunt syndrome: to bury or to praise.

Authors:  S F Berkovic; F Andermann
Journal:  J Neurol Neurosurg Psychiatry       Date:  1990-01       Impact factor: 10.154

Review 2.  Definition and classification of hyperkinetic movements in childhood.

Authors:  Terence D Sanger; Daofen Chen; Darcy L Fehlings; Mark Hallett; Anthony E Lang; Jonathan W Mink; Harvey S Singer; Katharine Alter; Hilla Ben-Pazi; Erin E Butler; Robert Chen; Abigail Collins; Sudarshan Dayanidhi; Hans Forssberg; Eileen Fowler; Donald L Gilbert; Sharon L Gorman; Mark E Gormley; H A Jinnah; Barbara Kornblau; Kristin J Krosschell; Rebecca K Lehman; Colum MacKinnon; C J Malanga; Ronit Mesterman; Margaret Barry Michaels; Toni S Pearson; Jessica Rose; Barry S Russman; Dagmar Sternad; Kathy J Swoboda; Francisco Valero-Cuevas
Journal:  Mov Disord       Date:  2010-08-15       Impact factor: 10.338

3.  Has Progress Been Made in Progressive Myoclonic Epilepsy (EPM1)?

Authors:  M Scott Perry
Journal:  Epilepsy Curr       Date:  2015 Sep-Oct       Impact factor: 7.500

4.  Familial encephalopathy with neuroserpin inclusion bodies.

Authors:  R L Davis; P D Holohan; A E Shrimpton; A H Tatum; J Daucher; G H Collins; R Todd; C Bradshaw; P Kent; D Feiglin; A Rosenbaum; M S Yerby; C M Shaw; F Lacbawan; D A Lawrence
Journal:  Am J Pathol       Date:  1999-12       Impact factor: 4.307

5.  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

6.  Prevalence of different types of lysosomal storage diseases in Saudi Arabia.

Authors:  P T Ozand; G Gascon; A al Aqeel; G Roberts; M Dhalla; S B Subramanyam
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

7.  A distinct autosomal recessive ataxia maps to chromosome 12 in an inbred family from Jordan.

Authors:  Hatem El-Shanti; Azhar Daoud; Ammar A Sadoon; Suzanne M Leal; Shan Chen; Kwanghyuk Lee; Ronald Spiegel
Journal:  Brain Dev       Date:  2006-01-10       Impact factor: 1.961

8.  Cystatin B deficiency sensitizes neurons to oxidative stress in progressive myoclonus epilepsy, EPM1.

Authors:  Maria K Lehtinen; Saara Tegelberg; Hyman Schipper; Haixiang Su; Hillel Zukor; Otto Manninen; Outi Kopra; Tarja Joensuu; Paula Hakala; Azad Bonni; Anna-Elina Lehesjoki
Journal:  J Neurosci       Date:  2009-05-06       Impact factor: 6.167

9.  Myoclonic dystonia.

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

10.  Epilepsy in a mitochondrial disorder.

Authors:  T Torbergsen; E Mathiesen; J Aasly
Journal:  J Neurol Neurosurg Psychiatry       Date:  1991-12       Impact factor: 10.154

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