Literature DB >> 24737350

A family with distal myopathy with rimmed vacuoles associated with thrombocytopenia.

Changqing Zhen1, Feng Guo, Xiaosheng Fang, Ying Liu, Xin Wang.   

Abstract

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Year:  2014        PMID： 24737350     DOI： 10.1007/s10072-014-1790-9

Source DB:  PubMed          Journal:  Neurol Sci        ISSN： 1590-1874            Impact factor:   3.307


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  7 in total

1.  UDP-GlcNAc 2-epimerase: a regulator of cell surface sialylation.

Authors:  O T Keppler; S Hinderlich; J Langner; R Schwartz-Albiez; W Reutter; M Pawlita
Journal:  Science       Date:  1999-05-21       Impact factor: 47.728

2.  Sialic Acid: its importance to platelet function in health and disease.

Authors:  M Crook
Journal:  Platelets       Date:  1991       Impact factor: 3.862

3.  A novel type of macrothrombocytopenia associated with a defect in α2,3-sialylation.

Authors:  Claire Jones; Jonas Denecke; Ronald Sträter; Torsten Stölting; Yvonne Schunicht; Dagmar Zeuschner; Judith Klumperman; Dirk J Lefeber; Oliver Spelten; Alexander Zarbock; Sørge Kelm; Karen Strenge; Stuart M Haslam; Kerstin Lühn; Dorothea Stahl; Luca Gentile; Thomas Schreiter; Philip Hilgard; Annette G Beck-Sickinger; Thorsten Marquardt; Martin K Wild
Journal:  Am J Pathol       Date:  2011-08-22       Impact factor: 4.307

4.  Influence of platelet membrane sialic acid and platelet-associated IgG on ageing and sequestration of blood platelets in baboons.

Authors:  H F Kotzé; V van Wyk; P N Badenhorst; A D Heyns; J P Roodt; M G Lötter
Journal:  Thromb Haemost       Date:  1993-10-18       Impact factor: 5.249

Review 5.  Hereditary inclusion body myopathy: a decade of progress.

Authors:  Marjan Huizing; Donna M Krasnewich
Journal:  Biochim Biophys Acta       Date:  2009-07-24

6.  The Ashwell receptor mitigates the lethal coagulopathy of sepsis.

Authors:  Prabhjit K Grewal; Satoshi Uchiyama; David Ditto; Nissi Varki; Dzung T Le; Victor Nizet; Jamey D Marth
Journal:  Nat Med       Date:  2008-05-18       Impact factor: 53.440

7.  Sialyltransferase specificity in selectin ligand formation.

Authors:  Lesley G Ellies; Markus Sperandio; Gregory H Underhill; James Yousif; Michael Smith; John J Priatel; Geoffrey S Kansas; Klaus Ley; Jamey D Marth
Journal:  Blood       Date:  2002-07-25       Impact factor: 22.113
  7 in total
  10 in total

1.  GNE variants causing autosomal recessive macrothrombocytopenia without associated muscle wasting.

Authors:  Shoshana Revel-Vilk; Ela Shai; Ernest Turro; Nivin Jahshan; Esti Hi-Am; Galia Spectre; Hagit Daum; Yossef Kalish; Karina Althaus; Andreas Greinacher; Chaim Kaplinsky; Shai Izraeli; Rutendo Mapeta; Sri V V Deevi; Danuta Jarocha; Willem H Ouwehand; Kate Downes; Mortimer Poncz; David Varon; Michele P Lambert
Journal:  Blood       Date:  2018-08-31       Impact factor: 22.113

2.  Clinical, genetic, and pathological characterization of GNE myopathy in China.

Authors:  Xiao-Qing Lv; Ling Xu; Peng-Fei Lin; Chuan-Zhu Yan
Journal:  Neurol Sci       Date:  2022-02-09       Impact factor: 3.307

3.  Gene analysis and clinical features of 22 GNE myopathy patients.

Authors:  Xuan Guo; Zhe Zhao; Hongrui Shen; Qi Bing; Nan Li; Jiannan Chen; Jing Hu
Journal:  Neurol Sci       Date:  2022-04-19       Impact factor: 3.830

Review 4.  GNE Myopathy: Etiology, Diagnosis, and Therapeutic Challenges.

Authors:  Nuria Carrillo; May C Malicdan; Marjan Huizing
Journal:  Neurotherapeutics       Date:  2018-10       Impact factor: 7.620

5.  Mutation in GNE is associated with severe congenital thrombocytopenia.

Authors:  Jane Futterer; Amanda Dalby; Gillian C Lowe; Ben Johnson; Michael A Simpson; Jayashree Motwani; Mike Williams; Steve P Watson; Neil V Morgan
Journal:  Blood       Date:  2018-06-25       Impact factor: 22.113

6.  Whole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defects.

Authors:  Ben Johnson; Gillian C Lowe; Jane Futterer; Marie Lordkipanidzé; David MacDonald; Michael A Simpson; Isabel Sanchez-Guiú; Sian Drake; Danai Bem; Vincenzo Leo; Sarah J Fletcher; Ban Dawood; José Rivera; David Allsup; Tina Biss; Paula Hb Bolton-Maggs; Peter Collins; Nicola Curry; Charlotte Grimley; Beki James; Mike Makris; Jayashree Motwani; Sue Pavord; Katherine Talks; Jecko Thachil; Jonathan Wilde; Mike Williams; Paul Harrison; Paul Gissen; Stuart Mundell; Andrew Mumford; Martina E Daly; Steve P Watson; Neil V Morgan
Journal:  Haematologica       Date:  2016-06-16       Impact factor: 9.941

7.  GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme.

Authors:  Roberta Bottega; Antonio Marzollo; Maddalena Marinoni; Emmanouil Athanasakis; Ilaria Persico; Anna Monica Bianco; Michela Faleschini; Erica Valencic; Daniela Simoncini; Linda Rossini; Fabio Corsolini; Martina La Bianca; Giuseppe Robustelli; Maria Gabelli; Massimo Agosti; Alessandra Biffi; Paolo Grotto; Valeria Bozzi; Patrizia Noris; Alberto B Burlina; Adamo Pio D'Adamo; Alberto Tommasini; Flavio Faletra; Annalisa Pastore; Anna Savoia
Journal:  Haematologica       Date:  2022-03-01       Impact factor: 9.941

8.  Severe Congenital Thrombocytopenia Characterized by Decreased Platelet Sialylation and Moderate Complement Activation Caused by Novel Compound Heterozygous Variants in GNE.

Authors:  Karolina I Smolag; Marcus Fager Ferrari; Eva Zetterberg; Eva Leinoe; Torben Ek; Anna M Blom; Maria Rossing; Myriam Martin
Journal:  Front Immunol       Date:  2021-11-09       Impact factor: 7.561

9.  Novel compound heterozygous mutations in a GNE myopathy with congenital thrombocytopenia: A case report and literature review.

Authors:  Zhouwei Xu; Jingyan Xiang; Xinghua Luan; Zhi Geng; Li Cao
Journal:  Clin Case Rep       Date:  2022-04-04

10.  Congenital thrombocytopenia associated with GNE mutations in twin sisters: a case report and literature review.

Authors:  Xin Li; Ying Li; Min Lei; Jing Tian; Zuocheng Yang; Shoujin Kuang; Yanjuan Tan; Tao Bo
Journal:  BMC Med Genet       Date:  2020-11-16       Impact factor: 2.103
  10 in total

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