Literature DB >> 22476160

Autosomal recessive transmission of chorea-acanthocytosis confirmed.

Adrian Danek1, Benedikt Bader, Antonio Velayos-Baeza, Ruth H Walker.   

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Year:  2012        PMID： 22476160      PMCID： PMC4629413          DOI： 10.1007/s00401-012-0971-y

Source DB:  PubMed          Journal:  Acta Neuropathol        ISSN： 0001-6322            Impact factor:   17.088


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  7 in total

1.  Clinical and molecular genetic assessment of a chorea-acanthocytosis pedigree.

Authors:  Mio Ichiba; Masayuki Nakamura; Akira Kusumoto; Emiko Mizuno; Yutaka Kurano; Mieko Matsuda; Maiko Kato; Asumi Agemura; Yuko Tomemori; Shinji Muroya; Yoshiaki Nakabeppu; Akira Sano
Journal:  J Neurol Sci       Date:  2007-08-01       Impact factor: 3.181

2.  Dominant transmission of chorea-acanthocytosis with VPS13A mutations remains speculative.

Authors:  Benedikt Bader; Antonio Velayos-Baeza; Ruth H Walker; Adrian Danek
Journal:  Acta Neuropathol       Date:  2008-07-26       Impact factor: 17.088

3.  A neuropathological study of autosomal-dominant chorea-acanthocytosis with a mutation of VPS13A.

Authors:  Chiho Ishida; Takao Makifuchi; Shinji Saiki; Genjiro Hirose; Masahito Yamada
Journal:  Acta Neuropathol       Date:  2008-06-27       Impact factor: 17.088

4.  Chorea-acanthocytosis genotype in the original critchley kentucky neuroacanthocytosis kindred.

Authors:  Antonio Velayos-Baeza; Elke Holinski-Feder; Birgit Neitzel; Benedikt Bader; Edmund M R Critchley; Anthony P Monaco; Adrian Danek; Ruth H Walker
Journal:  Arch Neurol       Date:  2011-10

5.  Novel pathogenic mutations and copy number variations in the VPS13A gene in patients with chorea-acanthocytosis.

Authors:  Akiyuki Tomiyasu; Masayuki Nakamura; Mio Ichiba; Shuichi Ueno; Shinji Saiki; Mizuki Morimoto; Jan Kobal; Yasufumi Kageyama; Toshio Inui; Koichi Wakabayashi; Tatsuo Yamada; Yuji Kanemori; Hans H Jung; Haruhiko Tanaka; Satoshi Orimo; Zaid Afawi; Ilan Blatt; Jan Aasly; Hiroshi Ujike; Dusica Babovic-Vuksanovic; Keith A Josephs; Rie Tohge; Guilherme Riccioppo Rodrigues; Nicolas Dupré; Hidetaka Yamada; Fusako Yokochi; Katya Kotschet; Takanobu Takei; Monika Rudzińska; Andrzej Szczudlik; Silvana Penco; Masaki Fujiwara; Kana Tojo; Akira Sano
Journal:  Am J Med Genet B Neuropsychiatr Genet       Date:  2011-05-19       Impact factor: 3.568

6.  Chorea-acanthocytosis associated with Tourettism.

Authors:  Shinji Saiki; Genjiro Hirose; Koichiro Sakai; Ichiro Matsunari; Kotaro Higashi; Misuzu Saiki; Satoshi Kataoka; Ariyuki Hori; Kohei Shimazaki
Journal:  Mov Disord       Date:  2004-07       Impact factor: 10.338

7.  Mutation in the CHAC gene in a family of autosomal dominant chorea-acanthocytosis.

Authors:  S Saiki; K Sakai; Y Kitagawa; M Saiki; S Kataoka; G Hirose
Journal:  Neurology       Date:  2003-12-09       Impact factor: 9.910
  7 in total
  6 in total

1.  Chorein Deficiency and Alzheimer Disease: An Intriguing, Yet Premature Speculation.

Authors:  Antonio Velayos-Baeza; Adrian Danek
Journal:  Alzheimer Dis Assoc Disord       Date:  2017 Jan-Mar       Impact factor: 2.703

2.  Late Emergence of Parkinsonian Phenotype and Abnormal Dopamine Transporter Scan in Chorea-Acanthocytosis.

Authors:  Anna Nagy; Alastair Noyce; Antonio Velayos-Baeza; Andrew J Lees; Thomas T Warner; Helen Ling
Journal:  Mov Disord Clin Pract       Date:  2015-03-16

3.  Novel VPS13A Gene Mutations Identified in Patients Diagnosed with Chorea-acanthocytosis (ChAc): Case Presentation and Literature Review.

Authors:  Yan Shen; Xiaoming Liu; Xi Long; Chao Han; Fang Wan; Wenliang Fan; Xingfang Guo; Kai Ma; Shiyi Guo; Luxi Wang; Yun Xia; Ling Liu; Jinsha Huang; Zhicheng Lin; Nian Xiong; Tao Wang
Journal:  Front Aging Neurosci       Date:  2017-04-12       Impact factor: 5.750

4.  Therapeutic targeting of Lyn kinase to treat chorea-acanthocytosis.

Authors:  Kevin Peikert; Enrica Federti; Andreas Hermann; Lucia De Franceschi; Alessandro Matte; Gabriela Constantin; Enrica Caterina Pietronigro; Paolo Francesco Fabene; Paola Defilippi; Emilia Turco; Federico Del Gallo; Pietro Pucci; Angela Amoresano; Anna Illiano; Flora Cozzolino; Maria Monti; Francesca Garello; Enzo Terreno; Seth Leo Alper; Hannes Glaß; Lisann Pelzl; Katja Akgün; Tjalf Ziemssen; Rainer Ordemann; Florian Lang; Anna Maria Brunati; Elena Tibaldi; Immacolata Andolfo; Achille Iolascon; Giuseppe Bertini; Mario Buffelli; Carlo Zancanaro; Erika Lorenzetto; Angela Siciliano; Massimiliano Bonifacio; Adrian Danek; Ruth Helen Walker
Journal:  Acta Neuropathol Commun       Date:  2021-05-03       Impact factor: 7.801

5.  Changes in Blood Cell Deformability in Chorea-Acanthocytosis and Effects of Treatment With Dasatinib or Lithium.

Authors:  Felix Reichel; Martin Kräter; Kevin Peikert; Hannes Glaß; Philipp Rosendahl; Maik Herbig; Alejandro Rivera Prieto; Alexander Kihm; Giel Bosman; Lars Kaestner; Andreas Hermann; Jochen Guck
Journal:  Front Physiol       Date:  2022-04-04       Impact factor: 4.755

6.  Targeting Lyn Kinase in Chorea-Acanthocytosis: A Translational Treatment Approach in a Rare Disease.

Authors:  Kevin Peikert; Hannes Glaß; Enrica Federti; Alessandro Matte; Lisann Pelzl; Katja Akgün; Tjalf Ziemssen; Rainer Ordemann; Florian Lang; The Network For Translational Research For Neuroacanthocytosis Patients; Lucia De Franceschi; Andreas Hermann
Journal:  J Pers Med       Date:  2021-05-10
  6 in total

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