Literature DB >> 33277415

Pearls & Oy-sters: When Genetic Generalized Epilepsy Becomes Progressive.

Priya Purushothaman1, Erin M McGinnis1, Monica Aldulescu1, Cynthia V Stack1, Tracy S Gertler2.   

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Year:  2020        PMID： 33277415      PMCID： PMC8055328          DOI： 10.1212/WNL.0000000000011293

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


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  12 in total

1.  Targeting Pathogenic Lafora Bodies in Lafora Disease Using an Antibody-Enzyme Fusion.

Authors:  M Kathryn Brewer; Annette Uittenbogaard; Grant L Austin; Dyann M Segvich; Anna DePaoli-Roach; Peter J Roach; John J McCarthy; Zoe R Simmons; Jason A Brandon; Zhengqiu Zhou; Jill Zeller; Lyndsay E A Young; Ramon C Sun; James R Pauly; Nadine M Aziz; Bradley L Hodges; Tracy R McKnight; Dustin D Armstrong; Matthew S Gentry
Journal:  Cell Metab       Date:  2019-07-25       Impact factor: 27.287

2.  PTG protein depletion rescues malin-deficient Lafora disease in mouse.

Authors:  Julie Turnbull; Jonathan R Epp; Danielle Goldsmith; Xiaochu Zhao; Nela Pencea; Peixiang Wang; Paul W Frankland; Cameron A Ackerley; Berge A Minassian
Journal:  Ann Neurol       Date:  2014-03-07       Impact factor: 10.422

Review 3.  Lafora disease.

Authors:  Julie Turnbull; Erica Tiberia; Pasquale Striano; Pierre Genton; Stirling Carpenter; Cameron A Ackerley; Berge A Minassian
Journal:  Epileptic Disord       Date:  2016-09-01       Impact factor: 1.819

Review 4.  Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents.

Authors:  Jeffrey R Botkin; John W Belmont; Jonathan S Berg; Benjamin E Berkman; Yvonne Bombard; Ingrid A Holm; Howard P Levy; Kelly E Ormond; Howard M Saal; Nancy B Spinner; Benjamin S Wilfond; Joseph D McInerney
Journal:  Am J Hum Genet       Date:  2015-07-02       Impact factor: 11.025

5.  A pilot study of a ketogenic diet in patients with Lafora body disease.

Authors:  Simonetta Cardinali; Laura Canafoglia; Simona Bertoli; Silvana Franceschetti; Giovanni Lanzi; Anna Tagliabue; Pierangelo Veggiotti
Journal:  Epilepsy Res       Date:  2006-02-28       Impact factor: 3.045

6.  "Both Sides of the Wheelchair": The Views of Individuals with, and Parents of Individuals with Friedreich Ataxia Regarding Pre-symptomatic Testing of Minors.

Authors:  Georgia C Lowe; Louise A Corben; Rony E Duncan; Grace Yoon; Martin B Delatycki
Journal:  J Genet Couns       Date:  2015-01-17       Impact factor: 2.537

Review 7.  Lafora disease - from pathogenesis to treatment strategies.

Authors:  Felix Nitschke; Saija J Ahonen; Silvia Nitschke; Sharmistha Mitra; Berge A Minassian
Journal:  Nat Rev Neurol       Date:  2018-10       Impact factor: 42.937

8.  Experience, knowledge, and opinions about childhood genetic testing in Batten disease.

Authors:  Heather R Adams; Katherine Rose; Erika F Augustine; Jennifer M Kwon; Elisabeth A deBlieck; Frederick J Marshall; Amy Vierhile; Jonathan W Mink; Martha A Nance
Journal:  Mol Genet Metab       Date:  2013-11-04       Impact factor: 4.797

9.  Treatment with metformin in twelve patients with Lafora disease.

Authors:  Francesca Bisulli; Lorenzo Muccioli; Giuseppe d'Orsi; Laura Canafoglia; Elena Freri; Laura Licchetta; Barbara Mostacci; Patrizia Riguzzi; Federica Pondrelli; Carlo Avolio; Tommaso Martino; Roberto Michelucci; Paolo Tinuper
Journal:  Orphanet J Rare Dis       Date:  2019-06-21       Impact factor: 4.123

10.  Drug-Resistant Juvenile Myoclonic Epilepsy: Misdiagnosis of Progressive Myoclonus Epilepsy.

Authors:  Sarah Martin; Adam Strzelczyk; Silvia Lindlar; Kristina Krause; Philipp S Reif; Katja Menzler; Andreas G Chiocchetti; Felix Rosenow; Susanne Knake; Karl Martin Klein
Journal:  Front Neurol       Date:  2019-09-10       Impact factor: 4.003
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