Literature DB >> 29907606

Ocular phenotype and electroretinogram abnormalities in Lafora disease: A "window to the brain".

Ajoy Vincent1, Angelo Macrì1, Anupreet Tumber1, Nikolas Koukas1, Saija Ahonen1, Pasquale Striano1, Berge Minassian2.   

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Year:  2018        PMID： 29907606      PMCID： PMC6059029          DOI： 10.1212/WNL.0000000000005821

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  6 in total

1.  Skin biopsy in Lafora disease: genotype-phenotype correlations and diagnostic pitfalls.

Authors:  D M Andrade; C A Ackerley; T S C Minett; H A G Teive; S Bohlega; S W Scherer; B A Minassian
Journal:  Neurology       Date:  2003-12-09       Impact factor: 9.910

2.  Retinitis pigmentosa in Lafora disease: Expanding findings of progressive myoclonic epilepsy.

Authors:  Stirling Carpenter; Wladimir Bocca Vieira de Rezende Pinto; Paulo Victor Sgobbi de Souza; Acary Souza Bulle Oliveira
Journal:  Neurology       Date:  2016-04-19       Impact factor: 9.910

3.  Retinitis pigmentosa in Lafora disease: expanding findings of progressive myoclonic epilepsy.

Authors:  Wladimir Bocca Vieira de Rezende Pinto; Paulo Victor Sgobbi de Souza; Jhonatan Rafael Siqueira Pinheiro; Karine Yoshiye Kajiyama Okamoto; Mílvia Maria Simões e Silva Enokihara; Acary Souza Bulle Oliveira
Journal:  Neurology       Date:  2015-09-22       Impact factor: 9.910

4.  Electroretinographic responses in Lafora disease.

Authors:  A D Korczyn; N Ben-Tovim
Journal:  Electroencephalogr Clin Neurophysiol       Date:  1978-12

5.  Lafora-body disease with optic atrophy, macular degeneration and cardiac failure.

Authors:  A S de Graaf; E Ancker; G S Rutherfoord; J J van der Walt; D J Rossouw
Journal:  J Neurol Sci       Date:  1989-10       Impact factor: 3.181

6.  The retina in Lafora disease: light and electron microscopy.

Authors:  M Berard-Badier; J F Pellissier; D Gambarelli; T de Barsy; J Roger; M Toga
Journal:  Albrecht Von Graefes Arch Klin Exp Ophthalmol       Date:  1980
  6 in total
  3 in total

1.  Lafora Disease and Alpha-Synucleinopathy in Two Adult Free-Ranging Moose (Alces alces) Presenting with Signs of Blindness and Circling.

Authors:  Madhu Ravi; Atilano Lacson; Margo Pybus; Mark C Ball
Journal:  Animals (Basel)       Date:  2022-06-25       Impact factor: 3.231

2.  Retinal alterations in patients with Lafora disease.

Authors:  Heather Heitkotter; Rachel E Linderman; Jenna A Cava; Erica N Woertz; Rebecca R Mastey; Phyllis Summerfelt; Toco Y Chui; Richard B Rosen; Emily J Patterson; Ajoy Vincent; Joseph Carroll; Berge A Minassian
Journal:  Am J Ophthalmol Case Rep       Date:  2021-06-15

3.  Natural history of Lafora disease: a prognostic systematic review and individual participant data meta-analysis.

Authors:  Luca Vignatelli; Francesca Bisulli; Federica Pondrelli; Lorenzo Muccioli; Laura Licchetta; Barbara Mostacci; Corrado Zenesini; Paolo Tinuper
Journal:  Orphanet J Rare Dis       Date:  2021-08-16       Impact factor: 4.123
  3 in total

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