Literature DB >> 35015203

X-linked myopathy with excessive autophagy due to a mutation in VMA21 gene: the first case in China.

Jie Yang1, Dingbang Chen1, Li Feng1, Zhicong Yan1, Chao Wu1, Huajing You1, Bing Liao2, Jinlang Wu3, Xunhua Li4.   

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Year:  2022        PMID： 35015203     DOI： 10.1007/s10072-021-05788-w

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


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  6 in total

Review 1.  X-linked myopathy with excessive autophagy: a failure of self-eating.

Authors:  James J Dowling; Steven A Moore; Hannu Kalimo; Berge A Minassian
Journal:  Acta Neuropathol       Date:  2015-02-03       Impact factor: 17.088

2.  Non-coding VMA21 deletions cause X-linked myopathy with excessive autophagy.

Authors:  A Ruggieri; N Ramachandran; P Wang; E Haan; C Kneebone; J Manavis; L Morandi; I Moroni; P Blumbergs; M Mora; B A Minassian
Journal:  Neuromuscul Disord       Date:  2014-11-26       Impact factor: 4.296

3.  Cardiac autophagic vacuolation in severe X-linked myopathy with excessive autophagy.

Authors:  Iulia Munteanu; Hannu Kalimo; Antti Saraste; Ichizo Nishino; Berge A Minassian
Journal:  Neuromuscul Disord       Date:  2016-10-19       Impact factor: 4.296

4.  VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy.

Authors:  Nivetha Ramachandran; Iulia Munteanu; Peixiang Wang; Alessandra Ruggieri; Jennifer J Rilstone; Nyrie Israelian; Taline Naranian; Paul Paroutis; Ray Guo; Zhi-Ping Ren; Ichizo Nishino; Brigitte Chabrol; Jean-Francois Pellissier; Carlo Minetti; Bjarne Udd; Michel Fardeau; Chetankumar S Tailor; Don J Mahuran; John T Kissel; Hannu Kalimo; Nicolas Levy; Morris F Manolson; Cameron A Ackerley; Berge A Minassian
Journal:  Acta Neuropathol       Date:  2013-01-12       Impact factor: 17.088

5.  X-linked myopathy with excessive autophagy: a new hereditary muscle disease.

Authors:  H Kalimo; M L Savontaus; H Lang; L Paljärvi; V Sonninen; P B Dean; K Katevuo; A Salminen
Journal:  Ann Neurol       Date:  1988-03       Impact factor: 10.422

Review 6.  Inherited Neuromuscular Disorders: Which Role for Serum Biomarkers?

Authors:  Antonino Lupica; Vincenzo Di Stefano; Andrea Gagliardo; Salvatore Iacono; Antonia Pignolo; Salvatore Ferlisi; Angelo Torrente; Sonia Pagano; Massimo Gangitano; Filippo Brighina
Journal:  Brain Sci       Date:  2021-03-21
  6 in total

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