Literature DB >> 24685570

GNE myopathy: new name and new mutation nomenclature.

Marjan Huizing1, Nuria Carrillo-Carrasco2, May Christine V Malicdan3, Satoru Noguchi4, William A Gahl3, Stella Mitrani-Rosenbaum5, Zohar Argov6, Ichizo Nishino4.   

Abstract

Entities:  

Keywords:  Distal Myopathy with Rimmed Vacuoles (DMRV); GNE Myopathy; Hereditary Inclusion Body Myopathy (HIBM); Inclusion Body Myopathy 2 (IBM2); Nonaka myopathy; Sialic acid; UDP-GlcNAc 2-epimersa/ManNAc kinase

Mesh：

Substances：

Year:  2014        PMID： 24685570      PMCID： PMC4015343          DOI： 10.1016/j.nmd.2014.03.004

Source DB:  PubMed          Journal:  Neuromuscul Disord        ISSN： 0960-8966            Impact factor:   4.296


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  8 in total

1.  Hereditary inclusion body myopathy maps to chromosome 9p1-q1.

Authors:  S Mitrani-Rosenbaum; Z Argov; A Blumenfeld; C E Seidman; J G Seidman
Journal:  Hum Mol Genet       Date:  1996-01       Impact factor: 6.150

2.  Gene locus for autosomal recessive distal myopathy with rimmed vacuoles maps to chromosome 9.

Authors:  T Ikeuchi; T Asaka; M Saito; H Tanaka; S Higuchi; K Tanaka; K Saida; E Uyama; H Mizusawa; N Fukuhara; I Nonaka; M Takamori; S Tsuji
Journal:  Ann Neurol       Date:  1997-04       Impact factor: 10.422

3.  Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy.

Authors:  I Nishino; S Noguchi; K Murayama; A Driss; K Sugie; Y Oya; T Nagata; K Chida; T Takahashi; Y Takusa; T Ohi; J Nishimiya; N Sunohara; E Ciafaloni; M Kawai; M Aoki; I Nonaka
Journal:  Neurology       Date:  2002-12-10       Impact factor: 9.910

4.  Identification, tissue distribution, and molecular modeling of novel human isoforms of the key enzyme in sialic acid synthesis, UDP-GlcNAc 2-epimerase/ManNAc kinase.

Authors:  Tal Yardeni; Tsering Choekyi; Katherine Jacobs; Carla Ciccone; Katherine Patzel; Yair Anikster; William A Gahl; Natalya Kurochkina; Marjan Huizing
Journal:  Biochemistry       Date:  2011-09-19       Impact factor: 3.162

5.  The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy.

Authors:  I Eisenberg; N Avidan; T Potikha; H Hochner; M Chen; T Olender; M Barash; M Shemesh; M Sadeh; G Grabov-Nardini; I Shmilevich; A Friedmann; G Karpati; W G Bradley; L Baumbach; D Lancet; E B Asher; J S Beckmann; Z Argov; S Mitrani-Rosenbaum
Journal:  Nat Genet       Date:  2001-09       Impact factor: 38.330

6.  Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation.

Authors:  I Nonaka; N Sunohara; S Ishiura; E Satoyoshi
Journal:  J Neurol Sci       Date:  1981-07       Impact factor: 3.181

7.  "Rimmed vacuole myopathy" sparing the quadriceps. A unique disorder in Iranian Jews.

Authors:  Z Argov; R Yarom
Journal:  J Neurol Sci       Date:  1984-04       Impact factor: 3.181

8.  Clinical and genetic heterogeneity in chromosome 9p associated hereditary inclusion body myopathy: exclusion of GNE and three other candidate genes.

Authors:  Giles D J Watts; M Thorne; M J Kovach; A Pestronk; Virginia E Kimonis
Journal:  Neuromuscul Disord       Date:  2003-09       Impact factor: 4.296
  8 in total
  27 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.  Quantitative nuclear magnetic resonance imaging detects subclinical changes over 1 year in skeletal muscle of GNE myopathy.

Authors:  Teresa Gidaro; Harmen Reyngoudt; Julien Le Louër; Anthony Behin; Ferial Toumi; Melanie Villeret; Ericky C A Araujo; Pierre-Yves Baudin; Benjamin Marty; Melanie Annoussamy; Jean-Yves Hogrel; Pierre G Carlier; Laurent Servais
Journal:  J Neurol       Date:  2019-10-15       Impact factor: 4.849

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

4.  GNE Myopathy and Cell Apoptosis: A Comparative Mutation Analysis.

Authors:  Reema Singh; Ranjana Arya
Journal:  Mol Neurobiol       Date:  2015-05-15       Impact factor: 5.590

5.  Missing genetic variations in GNE myopathy: rearrangement hotspots encompassing 5'UTR and founder allele.

Authors:  Wenhua Zhu; Satomi Mitsuhashi; Takahiro Yonekawa; Satoru Noguchi; Josiah Chai Yui Huei; Atchayaram Nalini; Veeramani Preethish-Kumar; Masayoshi Yamamoto; Kenji Murakata; Madoka Mori-Yoshimura; Sachiko Kamada; Hiroyuki Yahikozawa; Masato Karasawa; Seigo Kimura; Fumitada Yamashita; Ichizo Nishino
Journal:  J Hum Genet       Date:  2016-11-10       Impact factor: 3.172

6.  GNE missense mutation in recessive familial amyotrophic lateral sclerosis.

Authors:  Çiğdem Köroğlu; Rezzak Yılmaz; Mine Hayriye Sorgun; Seyhun Solakoğlu; Özden Şener
Journal:  Neurogenetics       Date:  2017-10-31       Impact factor: 2.660

7.  Atypical presentation of GNE myopathy with asymmetric hand weakness.

Authors:  John Karl L de Dios; Joseph A Shrader; Galen O Joe; Jeffrey C McClean; Kayla Williams; Robert Evers; May Christine V Malicdan; Carla Ciccone; Ami Mankodi; Marjan Huizing; John C McKew; David A Bluemke; William A Gahl; Nuria Carrillo-Carrasco
Journal:  Neuromuscul Disord       Date:  2014-08-07       Impact factor: 4.296

8.  Sialuria: Ninth Patient Described Has a Novel Mutation in GNE.

Authors:  Noelia Nunez Martinez; Michelle Lipke; Jacqueline Robinson; Bridget Wilcken
Journal:  JIMD Rep       Date:  2018-06-20

Review 9.  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

10.  Cricopharyngeal bar on videofluoroscopy: high specificity for inclusion body myositis.

Authors:  Kenichiro Taira; Toshiyuki Yamamoto; Madoka Mori-Yoshimura; Kazuaki Sajima; Hotake Takizawa; Jun Shinmi; Yasushi Oya; Ichizo Nishino; Yuji Takahashi
Journal:  J Neurol       Date:  2020-09-26       Impact factor: 4.849
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