Literature DB >> 3946122

Action myoclonus-renal failure syndrome: a previously unrecognized neurological disorder unmasked by advances in nephrology.

E Andermann, F Andermann, S Carpenter, L S Wolfe, R Nelson, G Patry, J Boileau.   

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Year:  1986        PMID： 3946122

Source DB:  PubMed          Journal:  Adv Neurol        ISSN： 0091-3952


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  8 in total

Review 1.  The history of progressive myoclonus epilepsies.

Authors:  Pierre Genton; Pasquale Striano; Berge A Minassian
Journal:  Epileptic Disord       Date:  2016-09-01       Impact factor: 1.819

2.  Abnormal muscle and skin mitochondria in family with myoclonus, ataxia, and deafness (May and White syndrome).

Authors:  J Vaamonde; J Muruzabal; T Tuñón; N Perez; J Artieda; M Rodriguez; J A Obeso
Journal:  J Neurol Neurosurg Psychiatry       Date:  1992-02       Impact factor: 10.154

3.  Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis.

Authors:  Samuel F Berkovic; Leanne M Dibbens; Alicia Oshlack; Jeremy D Silver; Marina Katerelos; Danya F Vears; Renate Lüllmann-Rauch; Judith Blanz; Ke Wei Zhang; Jim Stankovich; Renate M Kalnins; John P Dowling; Eva Andermann; Frederick Andermann; Enrico Faldini; Rudi D'Hooge; Lata Vadlamudi; Richard A Macdonell; Bree L Hodgson; Marta A Bayly; Judy Savige; John C Mulley; Gordon K Smyth; David A Power; Paul Saftig; Melanie Bahlo
Journal:  Am J Hum Genet       Date:  2008-02-28       Impact factor: 11.025

4.  Novel SCARB2 mutation in action myoclonus-renal failure syndrome and evaluation of SCARB2 mutations in isolated AMRF features.

Authors:  Franziska Hopfner; Barbara Schormair; Franziska Knauf; Achim Berthele; Thomas R Tölle; Ralf Baron; Christoph Maier; Rolf-Detlef Treede; Andreas Binder; Claudia Sommer; Christian Maihöfner; Wolfram Kunz; Friedrich Zimprich; Uwe Heemann; Arne Pfeufer; Michael Näbauer; Stefan Kääb; Barbara Nowak; Christian Gieger; Peter Lichtner; Claudia Trenkwalder; Konrad Oexle; Juliane Winkelmann
Journal:  BMC Neurol       Date:  2011-10-27       Impact factor: 2.474

5.  Case Report: Distinctive EEG Patterns in SCARB-2 Related Progressive Myoclonus Epilepsy.

Authors:  Mostafa Hotait; Maya Dirani; Tarek El Halabi; Ahmad Beydoun
Journal:  Front Genet       Date:  2020-12-03       Impact factor: 4.599

6.  Genotype-Phenotype correlations of SCARB2 associated clinical presentation: a case report and in-depth literature review.

Authors:  Burcu Atasu; Ayse Nur Ozdag Acarlı; Basar Bilgic; Betül Baykan; Erol Demir; Yasemin Ozluk; Aydin Turkmen; Ann-Kathrin Hauser; Gamze Guven; Hasmet Hanagasi; Hakan Gurvit; Murat Emre; Thomas Gasser; Ebba Lohmann
Journal:  BMC Neurol       Date:  2022-03-28       Impact factor: 2.474

7.  Lysosomal integral membrane protein-2 as a phospholipid receptor revealed by biophysical and cellular studies.

Authors:  Karen S Conrad; Ting-Wen Cheng; Daniel Ysselstein; Saskia Heybrock; Lise R Hoth; Boris A Chrunyk; Christopher W Am Ende; Dimitri Krainc; Michael Schwake; Paul Saftig; Shenping Liu; Xiayang Qiu; Michael D Ehlers
Journal:  Nat Commun       Date:  2017-12-04       Impact factor: 14.919

8.  Coral skeletons reveal the history of nitrogen cycling in the coastal Great Barrier Reef.

Authors:  Dirk V Erler; Hanieh Tohidi Farid; Thomas D Glaze; Natasha L Carlson-Perret; Janice M Lough
Journal:  Nat Commun       Date:  2020-03-20       Impact factor: 14.919
  8 in total

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