Literature DB >> 25817839

Congenital autophagic vacuolar myopathy is allelic to X-linked myopathy with excessive autophagy.

Iulia Munteanu1, Nivetha Ramachandran1, Alessandra Ruggieri1, Tomonari Awaya1, Ichizo Nishino1, Berge A Minassian2.   

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Year:  2015        PMID： 25817839      PMCID： PMC4409585          DOI： 10.1212/WNL.0000000000001499

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


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  7 in total

Review 1.  The structure and function of proteins involved in mammalian pre-mRNA splicing.

Authors:  A Krämer
Journal:  Annu Rev Biochem       Date:  1996       Impact factor: 23.643

2.  A new congenital form of X-linked autophagic vacuolar myopathy.

Authors:  C Yan; M Tanaka; K Sugie; T Nobutoki; M Woo; N Murase; Y Higuchi; S Noguchi; I Nonaka; Y K Hayashi; I Nishino
Journal:  Neurology       Date:  2005-10-11       Impact factor: 9.910

3.  Late adult-onset of X-linked myopathy with excessive autophagy.

Authors:  Cameron D Crockett; Alessandra Ruggieri; Meena Gujrati; Christopher M Zallek; Nivetha Ramachandran; Berge A Minassian; Steven A Moore
Journal:  Muscle Nerve       Date:  2014-05-17       Impact factor: 3.217

4.  Epidemiology of neonatal respiratory failure in the United States: projections from California and New York.

Authors:  D C Angus; W T Linde-Zwirble; G Clermont; M F Griffin; R H Clark
Journal:  Am J Respir Crit Care Med       Date:  2001-10-01       Impact factor: 21.405

5.  A mutational analysis of the polypyrimidine tract of introns. Effects of sequence differences in pyrimidine tracts on splicing.

Authors:  R F Roscigno; M Weiner; M A Garcia-Blanco
Journal:  J Biol Chem       Date:  1993-05-25       Impact factor: 5.157

6.  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

7.  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
  7 in total
  6 in total

1.  Congenital autophagic vacuolar myopathy is allelic to X-linked myopathy with excessive autophagy.

Authors: 
Journal:  Neurology       Date:  2019-08-20       Impact factor: 9.910

2.  Fatal hepatic failure and pontine and extrapontine myelinolysis in XMEA.

Authors:  Cameron A Ackerley; Mary Anne Cooper; David G Munoz; Berge A Minassian
Journal:  Neurology       Date:  2016-08-26       Impact factor: 9.910

3.  Prenatal diagnosis of X-linked myopathy associated with a VMA21 gene mutation afforded through a novel targeted exome sequencing strategy applied in fetuses with abnormal ultrasound findings.

Authors:  Christopher Konialis; Efstratios Assimakopoulos; Birgitta Hagnefelt; Sophia Karapanou; Alexandros Sotiriadis; Constantinos Pangalos
Journal:  Clin Case Rep       Date:  2017-02-04

Review 4.  Update Review about Metabolic Myopathies.

Authors:  Josef Finsterer
Journal:  Life (Basel)       Date:  2020-04-17

Review 5.  The Role of Autophagy in Skeletal Muscle Diseases.

Authors:  Qianghua Xia; Xubo Huang; Jieru Huang; Yongfeng Zheng; Michael E March; Jin Li; Yongjie Wei
Journal:  Front Physiol       Date:  2021-03-25       Impact factor: 4.566

6.  Mutations in the V-ATPase Assembly Factor VMA21 Cause a Congenital Disorder of Glycosylation With Autophagic Liver Disease.

Authors:  Magda Cannata Serio; Laurie A Graham; Angel Ashikov; Tom H Stevens; Matias Simons; Dirk J Lefeber; Lars Elmann Larsen; Kimiyo Raymond; Sharita Timal; Gwenn Le Meur; Margret Ryan; Elzbieta Czarnowska; Jos C Jansen; Miao He; Can Ficicioglu; Pavel Pichurin; Linda Hasadsri; Berge Minassian; Alessandra Rugierri; Hannu Kalimo; W Alfredo Ríos-Ocampo; Christian Gilissen; Richard Rodenburg; Johan W Jonker; Adriaan G Holleboom; Eva Morava; Joris A Veltman; Piotr Socha
Journal:  Hepatology       Date:  2020-12       Impact factor: 17.298
  6 in total

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