Literature DB >> 12473780

An Italian family with autosomal recessive inclusion-body myopathy and mutations in the GNE gene.

A Broccolini1, M Pescatori, A D'Amico, A Sabino, G Silvestri, E Ricci, S Servidei, P A Tonali, M Mirabella.   

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Year:  2002        PMID： 12473780     DOI： 10.1212/01.wnl.0000031808.04545.e0

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  11 in total

1.  Patient reported outcomes in GNE myopathy: incorporating a valid assessment of physical function in a rare disease.

Authors:  Christina Slota; Margaret Bevans; Li Yang; Joseph Shrader; Galen Joe; Nuria Carrillo
Journal:  Disabil Rehabil       Date:  2017-02-07       Impact factor: 3.033

2.  Mutation analysis of the GNE gene in Korean patients with distal myopathy with rimmed vacuoles.

Authors:  Byoung Joon Kim; Chang-Seok Ki; Jong-Won Kim; Duk Hyun Sung; Young-Chul Choi; Seung Hyun Kim
Journal:  J Hum Genet       Date:  2005-12-22       Impact factor: 3.172

3.  Distal myopathy with rimmed vacuoles: Spectrum of GNE gene mutations in seven Chinese patients.

Authors:  Feifei Su; Jing Miao; Xuemei Liu; Xiaojing Wei; Xuefan Yu
Journal:  Exp Ther Med       Date:  2018-06-22       Impact factor: 2.447

Review 4.  Mutation update for GNE gene variants associated with GNE myopathy.

Authors:  Frank V Celeste; Thierry Vilboux; Carla Ciccone; John Karl de Dios; May Christine V Malicdan; Petcharat Leoyklang; John C McKew; William A Gahl; Nuria Carrillo-Carrasco; Marjan Huizing
Journal:  Hum Mutat       Date:  2014-08       Impact factor: 4.878

5.  Genetics of GNE myopathy in the non-Jewish Persian population.

Authors:  Alireza Haghighi; Shahriar Nafissi; Abrar Qurashi; Zheng Tan; Hosein Shamshiri; Yalda Nilipour; Amirreza Haghighi; Robert J Desnick; Ruth Kornreich
Journal:  Eur J Hum Genet       Date:  2015-05-13       Impact factor: 4.246

6.  Muscle imaging findings in GNE myopathy.

Authors:  Giorgio Tasca; Enzo Ricci; Mauro Monforte; Francesco Laschena; Pierfrancesco Ottaviani; Carmelo Rodolico; Emanuele Barca; Gabriella Silvestri; Elisabetta Iannaccone; Massimiliano Mirabella; Aldobrando Broccolini
Journal:  J Neurol       Date:  2012-01-10       Impact factor: 4.849

Review 7.  Hereditary inclusion body myopathy: a decade of progress.

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

8.  Molecular modeling of the bifunctional enzyme UDP-GlcNAc 2-epimerase/ManNAc kinase and predictions of structural effects of mutations associated with HIBM and sialuria.

Authors:  Natalya Kurochkina; Tal Yardeni; Marjan Huizing
Journal:  Glycobiology       Date:  2009-11-16       Impact factor: 4.313

Review 9.  UDP-GlcNAc 2-Epimerase/ManNAc Kinase (GNE): A Master Regulator of Sialic Acid Synthesis.

Authors:  Stephan Hinderlich; Wenke Weidemann; Tal Yardeni; Rüdiger Horstkorte; Marjan Huizing
Journal:  Top Curr Chem       Date:  2015

10.  Sialylation and muscle performance: sialic acid is a marker of muscle ageing.

Authors:  Frank Hanisch; Wenke Weidemann; Mona Großmann; Pushpa Raj Joshi; Hans-Jürgen Holzhausen; Gisela Stoltenburg; Joachim Weis; Stephan Zierz; Rüdiger Horstkorte
Journal:  PLoS One       Date:  2013-12-11       Impact factor: 3.240
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