Literature DB >> 27566744

Fatal hepatic failure and pontine and extrapontine myelinolysis in XMEA.

Cameron A Ackerley1, Mary Anne Cooper1, David G Munoz1, Berge A Minassian2.   

Abstract

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Mesh：

Year:  2016        PMID： 27566744      PMCID： PMC5047040          DOI： 10.1212/WNL.0000000000003155

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


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  7 in total

1.  X-linked vacuolated myopathy: membrane attack complex deposition on muscle fiber membranes with calcium accumulation on sarcolemma.

Authors:  J P Louboutin; M Villanova; B Lucas-Héron; M Fardeau
Journal:  Ann Neurol       Date:  1997-01       Impact factor: 10.422

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

Authors:  Iulia Munteanu; Nivetha Ramachandran; Alessandra Ruggieri; Tomonari Awaya; Ichizo Nishino; Berge A Minassian
Journal:  Neurology       Date:  2015-03-27       Impact factor: 9.910

3.  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

4.  X-linked myopathy with excessive autophagy: a clinicopathological study of five new families.

Authors:  B Chabrol; D Figarella-Branger; M Coquet; J Mancini; D Fontan; J M Pedespan; C Francannet; J Pouget; A M Beaufrère; J F Pellissier
Journal:  Neuromuscul Disord       Date:  2001-05       Impact factor: 4.296

5.  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

6.  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.  LAMP-2 deficiency leads to hippocampal dysfunction but normal clearance of neuronal substrates of chaperone-mediated autophagy in a mouse model for Danon disease.

Authors:  Michelle Rothaug; Stijn Stroobants; Michaela Schweizer; Judith Peters; Friederike Zunke; Mirka Allerding; Rudi D'Hooge; Paul Saftig; Judith Blanz
Journal:  Acta Neuropathol Commun       Date:  2015-01-31       Impact factor: 7.801
  7 in total
  1 in total

1.  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
  1 in total

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