Literature DB >> 26942291

PRICKLE2 Mutations Might Not Be Involved in Epilepsy.

Erin Sandford1, Thomas D Bird2, Jun Z Li3, Margit Burmeister4.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2016        PMID： 26942291      PMCID： PMC4800039          DOI： 10.1016/j.ajhg.2016.01.009

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


× No keyword cloud information.
  10 in total

1.  Parieto-occipital lobe epilepsy caused by a POLG1 compound heterozygous A467T/W748S genotype.

Authors:  David Roshal; David Glosser; Andro Zangaladze
Journal:  Epilepsy Behav       Date:  2011-04-22       Impact factor: 2.937

2.  The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases.

Authors:  Charalampos Tzoulis; Bernt A Engelsen; Wenche Telstad; Jan Aasly; Massimo Zeviani; Synnøve Winterthun; Gianfrancesco Ferrari; Jan H Aarseth; Laurence A Bindoff
Journal:  Brain       Date:  2006-04-25       Impact factor: 13.501

3.  Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions.

Authors:  G Van Goethem; B Dermaut; A Löfgren; J J Martin; C Van Broeckhoven
Journal:  Nat Genet       Date:  2001-07       Impact factor: 38.330

4.  Progressive myoclonus and epilepsy with dentatorubral degeneration: a clinicopathological study of the Ramsay Hunt syndrome.

Authors:  T D Bird; C M Shaw
Journal:  J Neurol Neurosurg Psychiatry       Date:  1978-02       Impact factor: 10.154

5.  POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement.

Authors:  G Van Goethem; P Luoma; M Rantamäki; A Al Memar; S Kaakkola; P Hackman; R Krahe; A Löfgren; J J Martin; P De Jonghe; A Suomalainen; B Udd; C Van Broeckhoven
Journal:  Neurology       Date:  2004-10-12       Impact factor: 9.910

6.  Apraxia of lid opening mimicking ptosis in compound heterozygosity for A467T and W748S POLG1 mutations.

Authors:  Sebastian Paus; Gabor Zsurka; Miriam Baron; Marcus Deschauer; Christian Bamberg; Thomas Klockgether; Wolfram S Kunz; Cornelia Kornblum
Journal:  Mov Disord       Date:  2008-07-15       Impact factor: 10.338

7.  Mutations in prickle orthologs cause seizures in flies, mice, and humans.

Authors:  Hirotaka Tao; J Robert Manak; Levi Sowers; Xue Mei; Hiroshi Kiyonari; Takaya Abe; Nader S Dahdaleh; Tian Yang; Shu Wu; Shan Chen; Mark H Fox; Christina Gurnett; Thomas Montine; Thomas Bird; Lisa G Shaffer; Jill A Rosenfeld; Juliann McConnell; Suneeta Madan-Khetarpal; Elizabeth Berry-Kravis; Hilary Griesbach; Russell P Saneto; Matthew P Scott; Dragana Antic; Jordan Reed; Riley Boland; Salleh N Ehaideb; Hatem El-Shanti; Vinit B Mahajan; Polly J Ferguson; Jeffrey D Axelrod; Anna-Elina Lehesjoki; Bernd Fritzsch; Diane C Slusarski; John Wemmie; Naoto Ueno; Alexander G Bassuk
Journal:  Am J Hum Genet       Date:  2011-02-03       Impact factor: 11.025

8.  3p interstitial deletion including PRICKLE2 in identical twins with autistic features.

Authors:  Akihisa Okumura; Toshiyuki Yamamoto; Masakazu Miyajima; Keiko Shimojima; Satoshi Kondo; Shinpei Abe; Mitsuru Ikeno; Toshiaki Shimizu
Journal:  Pediatr Neurol       Date:  2014-07-29       Impact factor: 4.210

9.  Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations.

Authors:  S Winterthun; G Ferrari; L He; R W Taylor; M Zeviani; D M Turnbull; B A Engelsen; G Moen; L A Bindoff
Journal:  Neurology       Date:  2005-04-12       Impact factor: 9.910

10.  A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome.

Authors:  Alexander G Bassuk; Robyn H Wallace; Aimee Buhr; Andrew R Buller; Zaid Afawi; Masahito Shimojo; Shingo Miyata; Shan Chen; Pedro Gonzalez-Alegre; Hilary L Griesbach; Shu Wu; Marcus Nashelsky; Eszter K Vladar; Dragana Antic; Polly J Ferguson; Sebahattin Cirak; Thomas Voit; Matthew P Scott; Jeffrey D Axelrod; Christina Gurnett; Azhar S Daoud; Sara Kivity; Miriam Y Neufeld; Aziz Mazarib; Rachel Straussberg; Simri Walid; Amos D Korczyn; Diane C Slusarski; Samuel F Berkovic; Hatem I El-Shanti
Journal:  Am J Hum Genet       Date:  2008-10-30       Impact factor: 11.025
  10 in total
  1 in total

1.  Response to Sandford et al.: PRICKLE2 Variants in Epilepsy: A Call for Precision Medicine.

Authors:  Vinit B Mahajan; Alexander G Bassuk
Journal:  Am J Hum Genet       Date:  2016-03-03       Impact factor: 11.025
  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.