Literature DB >> 28398599

Hippocampal sclerosis and mesial temporal lobe epilepsy in chorea-acanthocytosis: a case with clinical, pathologic and genetic evaluation.

K Mente1, S A Kim2, C Grunseich3, M M Hefti4, J F Crary4, A Danek5, B I Karp1, R H Walker6,7.   

Abstract

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Year:  2017        PMID： 28398599      PMCID： PMC5597461          DOI： 10.1111/nan.12403

Source DB:  PubMed          Journal:  Neuropathol Appl Neurobiol        ISSN： 0305-1846            Impact factor:   8.090


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  12 in total

1.  A new phenotype of chorea-acanthocytosis with dilated cardiomyopathy and myopathy.

Authors:  Yasufumi Kageyama; Keiji Matsumoto; Keiji Ichikawa; Shu-ichi Ueno; Mio Ichiba; Masayuki Nakamura; Akira Sano
Journal:  Mov Disord       Date:  2007-08-15       Impact factor: 10.338

2.  Neuropathological findings in chorea-acanthocytosis: new insights into mechanisms underlying parkinsonism and seizures.

Authors:  Barbara S Connolly; Lili-Naz Hazrati; Anthony E Lang
Journal:  Acta Neuropathol       Date:  2014-01-07       Impact factor: 17.088

3.  Development of mesial temporal lobe epilepsy in chorea-acanthocytosis.

Authors:  R Scheid; B Bader; D V Ott; A Merkenschlager; A Danek
Journal:  Neurology       Date:  2009-10-27       Impact factor: 9.910

Review 4.  Molecular genetics and pathogenesis of cardiomyopathy.

Authors:  Akinori Kimura
Journal:  J Hum Genet       Date:  2015-07-16       Impact factor: 3.172

5.  Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis.

Authors:  C Dobson-Stone; A Danek; L Rampoldi; R J Hardie; R M Chalmers; N W Wood; S Bohlega; M T Dotti; A Federico; M Shizuka; M Tanaka; M Watanabe; Y Ikeda; M Brin; L G Goldfarb; B I Karp; S Mohiddin; L Fananapazir; A Storch; A E Fryer; P Maddison; I Sibon; P C Trevisol-Bittencourt; C Singer; I R Caballero; J O Aasly; K Schmierer; R Dengler; L-P Hiersemenzel; M Zeviani; V Meiner; A Lossos; S Johnson; F C Mercado; G Sorrentino; N Dupré; G A Rouleau; J Volkmann; J Arpa; A Lees; G Geraud; S Chouinard; A Németh; A P Monaco
Journal:  Eur J Hum Genet       Date:  2002-11       Impact factor: 4.246

6.  Phenotypic abnormalities in a chorea-acanthocytosis mouse model are modulated by strain background.

Authors:  Hitoshi Sakimoto; Masayuki Nakamura; Omi Nagata; Izumi Yokoyama; Akira Sano
Journal:  Biochem Biophys Res Commun       Date:  2016-02-24       Impact factor: 3.575

Review 7.  Genetics of temporal lobe epilepsy.

Authors:  Su-Kyeong Hwang; Shinichi Hirose
Journal:  Brain Dev       Date:  2011-11-21       Impact factor: 1.961

8.  Allograft pathology in patients transplanted for idiopathic dilated cardiomyopathy.

Authors:  Mingchang Zhang; Fabio Tavora; Thomas Huebner; Jonathan Heath; Allen Burke
Journal:  Am J Surg Pathol       Date:  2012-03       Impact factor: 6.394

Review 9.  Untangling the Thorns: Advances in the Neuroacanthocytosis Syndromes.

Authors:  Ruth H Walker
Journal:  J Mov Disord       Date:  2015-05-31

10.  Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies.

Authors: 
Journal:  Lancet Neurol       Date:  2014-07-30       Impact factor: 44.182
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  6 in total

1.  Pathoarchitectonics of the cerebral cortex in chorea-acanthocytosis and Huntington's disease.

Authors:  J Liu; H Heinsen; L T Grinberg; E Alho; E Amaro; C A Pasqualucci; U Rüb; K Seidel; W den Dunnen; T Arzberger; C Schmitz; M C Kiessling; B Bader; A Danek
Journal:  Neuropathol Appl Neurobiol       Date:  2018-06-10       Impact factor: 8.090

Review 2.  Cardiac Involvement in Movement Disorders.

Authors:  Malco Rossi; Nestor Wainsztein; Marcelo Merello
Journal:  Mov Disord Clin Pract       Date:  2021-04-07

3.  Decreased Na+/K+ ATPase Expression and Depolarized Cell Membrane in Neurons Differentiated from Chorea-Acanthocytosis Patients.

Authors:  Zohreh Hosseinzadeh; Stefan Hauser; Yogesh Singh; Lisann Pelzl; Stefanie Schuster; Yamini Sharma; Philip Höflinger; Nefeli Zacharopoulou; Christos Stournaras; Daniel L Rathbun; Eberhart Zrenner; Ludger Schöls; Florian Lang
Journal:  Sci Rep       Date:  2020-05-21       Impact factor: 4.379

4.  Unraveling the Spatiotemporal Distribution of VPS13A in the Mouse Brain.

Authors:  Esther García-García; Nerea Chaparro-Cabanillas; Albert Coll-Manzano; Maria Carreras-Caballé; Albert Giralt; Daniel Del Toro; Jordi Alberch; Mercè Masana; Manuel J Rodríguez
Journal:  Int J Mol Sci       Date:  2021-12-01       Impact factor: 5.923

5.  Cooccurrence of Chorea-Acanthocytosis and Mesial Temporal Sclerosis: A Possible Role of Caudate Nucleus.

Authors:  Mehri Salari; Alexander C Lehn; Masoud Etemadifar; Seyed Amir Hejazi
Journal:  Case Rep Neurol Med       Date:  2017-08-13

6.  Chorea-Acanthocytosis Presenting as Autosomal Recessive Epilepsy in a Family With a Novel VPS13A Mutation.

Authors:  Juliane Weber; Lars Frings; Michel Rijntjes; Horst Urbach; Judith Fischer; Cornelius Weiller; Philipp T Meyer; Stephan Klebe
Journal:  Front Neurol       Date:  2019-01-09       Impact factor: 4.003
  6 in total

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