Literature DB >> 14237775

LAFORA'S DISEASE. DISTINCT CLINICO-PATHOLOGIC FORM OF UNVERRICHT'S SYNDROME.

G A SCHWARZ, M YANOFF.   

Abstract

Entities:  

Keywords:  ADOLESCENCE; ATAXIA; BLINDNESS; BRAIN DISEASES; CENTRAL NERVOUS SYSTEM; DIAGNOSIS, DIFFERENTIAL; ELECTROENCEPHALOGRAPHY; EPILEPSY, GRAND MAL; GENETICS, HUMAN; HEART; HISTOCYTOCHEMISTRY; LIVER CYTOLOGY; MYOCLONUS; PATHOLOGY; RETINA; SPEECH DISORDERS; SPINAL NERVES

Mesh：

Year:  1965        PMID： 14237775     DOI： 10.1001/archneur.1965.00460260062008

Source DB:  PubMed          Journal:  Arch Neurol        ISSN： 0003-9942


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  35 in total

1.  Progressive myoclonus epilepsy. A variant with probable X-linked inheritance.

Authors:  T F Wienker; G M von Reutern; H H Ropers
Journal:  Hum Genet       Date:  1979-05-23       Impact factor: 4.132

2.  Intra-axonal Corpora amylacea in ventral and lateral horns of the spinal cord.

Authors:  K Takahashi; M Agari; H Nakamura
Journal:  Acta Neuropathol       Date:  1975       Impact factor: 17.088

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.  Central Nervous System Delivery and Biodistribution Analysis of an Antibody-Enzyme Fusion for the Treatment of Lafora Disease.

Authors:  Grant L Austin; Zoe R Simmons; Jack E Klier; Alberto Rondon; Brad L Hodges; Robert Shaffer; Nadine M Aziz; Tracy R McKnight; James R Pauly; Dustin D Armstrong; Craig W Vander Kooi; Matthew S Gentry
Journal:  Mol Pharm       Date:  2019-08-02       Impact factor: 4.939

6.  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

7.  FDG-PET assessment and metabolic patterns in Lafora disease.

Authors:  Lorenzo Muccioli; Andrea Farolfi; Federica Pondrelli; Giuseppe d'Orsi; Roberto Michelucci; Elena Freri; Laura Canafoglia; Laura Licchetta; Francesco Toni; Rachele Bonfiglioli; Simona Civollani; Cinzia Pettinato; Elisa Maietti; Giorgio Marotta; Stefano Fanti; Paolo Tinuper; Francesca Bisulli
Journal:  Eur J Nucl Med Mol Imaging       Date:  2019-12-19       Impact factor: 9.236

8.  Myoclonus epilepsy with cerebellar Lafora bodies. Report of a case.

Authors:  R Scelsi; G L Mazzella; M Lombardi
Journal:  J Neurol Neurosurg Psychiatry       Date:  1976-04       Impact factor: 10.154

Review 9.  Advances in lafora progressive myoclonus epilepsy.

Authors:  Antonio V Delgado-Escueta
Journal:  Curr Neurol Neurosci Rep       Date:  2007-09       Impact factor: 5.081

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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