Literature DB >> 21397066

AIMP1/p43 mutation and PMLD.

Roberta Biancheri, Andrea Rossi, Federico Zara, Mirella Filocamo.   

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Year:  2011        PMID： 21397066      PMCID： PMC3059415          DOI： 10.1016/j.ajhg.2011.02.003

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  6 in total

1.  Quantitative proton MRS of Pelizaeus-Merzbacher disease: evidence of dys- and hypomyelination.

Authors:  F A Hanefeld; K Brockmann; P J W Pouwels; B Wilken; J Frahm; P Dechent
Journal:  Neurology       Date:  2005-09-13       Impact factor: 9.910

2.  Pelizaeus-Merzbacher-like disease caused by AIMP1/p43 homozygous mutation.

Authors:  Miora Feinstein; Barak Markus; Iris Noyman; Hannah Shalev; Hagit Flusser; Ilan Shelef; Keren Liani-Leibson; Zamir Shorer; Idan Cohen; Shareef Khateeb; Sara Sivan; Ohad S Birk
Journal:  Am J Hum Genet       Date:  2010-11-18       Impact factor: 11.025

3.  Magnetic resonance imaging pattern recognition in hypomyelinating disorders.

Authors:  Marjan E Steenweg; Adeline Vanderver; Susan Blaser; Alberto Bizzi; Tom J de Koning; Grazia M S Mancini; Wessel N van Wieringen; Frederik Barkhof; Nicole I Wolf; Marjo S van der Knaap
Journal:  Brain       Date:  2010-10       Impact factor: 13.501

4.  GJA12 mutations in children with recessive hypomyelinating leukoencephalopathy.

Authors:  M Bugiani; S Al Shahwan; E Lamantea; A Bizzi; E Bakhsh; I Moroni; M R Balestrini; G Uziel; M Zeviani
Journal:  Neurology       Date:  2006-05-17       Impact factor: 9.910

5.  Invited article: an MRI-based approach to the diagnosis of white matter disorders.

Authors:  Raphael Schiffmann; Marjo S van der Knaap
Journal:  Neurology       Date:  2009-02-24       Impact factor: 9.910

6.  Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease.

Authors:  Birgit Uhlenberg; Markus Schuelke; Franz Rüschendorf; Nico Ruf; Angela M Kaindl; Marco Henneke; Holger Thiele; Gisela Stoltenburg-Didinger; Fuat Aksu; Haluk Topaloğlu; Peter Nürnberg; Christoph Hübner; Bernhard Weschke; Jutta Gärtner
Journal:  Am J Hum Genet       Date:  2004-06-10       Impact factor: 11.025
  6 in total
  5 in total

1.  The N terminus of pro-endothelial monocyte-activating polypeptide II (EMAP II) regulates its binding with the C terminus, arginyl-tRNA synthetase, and neurofilament light protein.

Authors:  Haiming Xu; Nikolay L Malinin; Niranjan Awasthi; Roderich E Schwarz; Margaret A Schwarz
Journal:  J Biol Chem       Date:  2015-02-27       Impact factor: 5.157

2.  AIMP1 deficiency presents as a cortical neurodegenerative disease with infantile onset.

Authors:  L Armstrong; R Biancheri; C Shyr; A Rossi; G Sinclair; C J Ross; M Tarailo-Graovac; W W Wasserman; C D M van Karnebeek
Journal:  Neurogenetics       Date:  2014-06-24       Impact factor: 2.660

3.  Missense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegeneration.

Authors:  Zafar Iqbal; Lucia Püttmann; Luciana Musante; Attia Razzaq; Muhammad Yasir Zahoor; Hao Hu; Thomas F Wienker; Masoud Garshasbi; Zohreh Fattahi; Christian Gilissen; Lisenka E L M Vissers; Arjan P M de Brouwer; Joris A Veltman; Rolph Pfundt; Hossein Najmabadi; Hans-Hilger Ropers; Sheikh Riazuddin; Kimia Kahrizi; Hans van Bokhoven
Journal:  Eur J Hum Genet       Date:  2015-07-15       Impact factor: 4.246

4.  Mutations in RARS cause a hypomyelination disorder akin to Pelizaeus-Merzbacher disease.

Authors:  Michael Nafisinia; Nara Sobreira; Lisa Riley; Wendy Gold; Birgit Uhlenberg; Claudia Weiß; Corinne Boehm; Kristina Prelog; Robert Ouvrier; John Christodoulou
Journal:  Eur J Hum Genet       Date:  2017-07-26       Impact factor: 4.246

5.  Rare Neurologic Disease-Associated Mutations of AIMP1 are Related with Inhibitory Neuronal Differentiation Which is Reversed by Ibuprofen.

Authors:  Yu Takeuchi; Marina Tanaka; Nanako Okura; Yasuyuki Fukui; Ko Noguchi; Yoshihiro Hayashi; Tomohiro Torii; Hiroaki Ooizumi; Katsuya Ohbuchi; Kazushige Mizoguchi; Yuki Miyamoto; Junji Yamauchi
Journal:  Medicines (Basel)       Date:  2020-05-06
  5 in total

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