Literature DB >> 15466003

POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease.

C Diesen, A Saarinen, H Pihko, C Rosenlew, B Cormand, W B Dobyns, J Dieguez, L Valanne, T Joensuu, A-E Lehesjoki.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2004        PMID： 15466003      PMCID： PMC1735594          DOI： 10.1136/jmg.2004.020701

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


× No keyword cloud information.
  14 in total

1.  O Mannosylation of alpha-dystroglycan is essential for lymphocytic choriomeningitis virus receptor function.

Authors:  Mauro Imperiali; Claudio Thoma; Ernesto Pavoni; Andrea Brancaccio; Nico Callewaert; Annette Oxenius
Journal:  J Virol       Date:  2005-11       Impact factor: 5.103

2.  Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa.

Authors:  Mingchu Xu; Takeyuki Yamada; Zixi Sun; Aiden Eblimit; Irma Lopez; Feng Wang; Hiroshi Manya; Shan Xu; Li Zhao; Yumei Li; Adva Kimchi; Dror Sharon; Ruifang Sui; Tamao Endo; Robert K Koenekoop; Rui Chen
Journal:  Hum Mol Genet       Date:  2016-01-28       Impact factor: 6.150

3.  A glycogene mutation map for discovery of diseases of glycosylation.

Authors:  Lars Hansen; Allan Lind-Thomsen; Hiren J Joshi; Nis Borbye Pedersen; Christian Theil Have; Yun Kong; Shengjun Wang; Thomas Sparso; Niels Grarup; Malene Bech Vester-Christensen; Katrine Schjoldager; Hudson H Freeze; Torben Hansen; Oluf Pedersen; Bernard Henrissat; Ulla Mandel; Henrik Clausen; Hans H Wandall; Eric P Bennett
Journal:  Glycobiology       Date:  2014-09-28       Impact factor: 4.313

4.  Evidence-based guideline summary: evaluation, diagnosis, and management of congenital muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine.

Authors:  Peter B Kang; Leslie Morrison; Susan T Iannaccone; Robert J Graham; Carsten G Bönnemann; Anne Rutkowski; Joseph Hornyak; Ching H Wang; Kathryn North; Maryam Oskoui; Thomas S D Getchius; Julie A Cox; Erin E Hagen; Gary Gronseth; Robert C Griggs
Journal:  Neurology       Date:  2015-03-31       Impact factor: 9.910

5.  Phenotype and Genotype Study of Chinese POMT2-Related α-Dystroglycanopathy.

Authors:  Xiao-Yu Chen; Dan-Yu Song; Li Jiang; Dan-Dan Tan; Yi-Dan Liu; Jie-Yu Liu; Xing-Zhi Chang; Guo-Gang Xing; Tatsushi Toda; Hui Xiong
Journal:  Front Genet       Date:  2021-08-03       Impact factor: 4.599

6.  Novel POMGnT1 mutations cause muscle-eye-brain disease in Chinese patients.

Authors:  Hui Jiao; Hiroshi Manya; Shuo Wang; Yanzhi Zhang; Xiaoqing Li; Jiangxi Xiao; Yanling Yang; Kazuhiro Kobayashi; Tatsushi Toda; Tamao Endo; Xiru Wu; Hui Xiong
Journal:  Mol Genet Genomics       Date:  2013-05-21       Impact factor: 3.291

7.  Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophy.

Authors:  Jorge Oliveira; Isabel Soares-Silva; Ivo Fokkema; Ana Gonçalves; Alexandra Cabral; Luísa Diogo; Lucía Galán; António Guimarães; Isabel Fineza; Johan T den Dunnen; Rosário Santos
Journal:  J Hum Genet       Date:  2008-03-11       Impact factor: 3.172

8.  Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease.

Authors:  Ute Hehr; Goekhan Uyanik; Claudia Gross; Maggie C Walter; Axel Bohring; Monika Cohen; Barbara Oehl-Jaschkowitz; Lynne M Bird; Ghiat M Shamdeen; Ulrich Bogdahn; Gerhard Schuierer; Haluk Topaloglu; Ludwig Aigner; Hanns Lochmüller; Jürgen Winkler
Journal:  Neurogenetics       Date:  2007-09-29       Impact factor: 2.660

Review 9.  What disorders of cortical development tell us about the cortex: one plus one does not always make two.

Authors:  M Chiara Manzini; Christopher A Walsh
Journal:  Curr Opin Genet Dev       Date:  2011-02-01       Impact factor: 5.578

10.  Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain disease.

Authors:  S Saredi; A Ardissone; A Ruggieri; E Mottarelli; L Farina; R Rinaldi; E Silvestri; C Gandioli; S D'Arrigo; F Salerno; L Morandi; P Grammatico; C Pantaleoni; I Moroni; M Mora
Journal:  J Neurol Sci       Date:  2012-05-02       Impact factor: 3.181
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.