Literature DB >> 21397067

Neurodegenerative disorder related to AIMP1/p43 mutation is not a PMLD.

Odile Boespflug-Tanguy, Patrick Aubourg, Imen Dorboz, Mélina Bégou, Geneviève Giraud, Catherine Sarret, Catherine Vaurs-Barrière.   

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Year:  2011        PMID： 21397067      PMCID： PMC3059435          DOI： 10.1016/j.ajhg.2010.12.015

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


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  9 in total

1.  Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations. Clinical European Network on Brain Dysmyelinating Disease.

Authors:  F Cailloux; F Gauthier-Barichard; C Mimault; V Isabelle; V Courtois; G Giraud; B Dastugue; O Boespflug-Tanguy
Journal:  Eur J Hum Genet       Date:  2000-11       Impact factor: 4.246

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

Review 4.  The molecular basis of autosomal recessive diseases among the Arabs and Druze in Israel.

Authors:  Joël Zlotogora
Journal:  Hum Genet       Date:  2010-09-18       Impact factor: 4.132

5.  Proteolipoprotein gene analysis in 82 patients with sporadic Pelizaeus-Merzbacher Disease: duplications, the major cause of the disease, originate more frequently in male germ cells, but point mutations do not. The Clinical European Network on Brain Dysmyelinating Disease.

Authors:  C Mimault; G Giraud; V Courtois; F Cailloux; J Y Boire; B Dastugue; O Boespflug-Tanguy
Journal:  Am J Hum Genet       Date:  1999-08       Impact factor: 11.025

6.  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

7.  Mitochondrial hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophy.

Authors:  Daniella Magen; Costa Georgopoulos; Peter Bross; Debbie Ang; Yardena Segev; Dorit Goldsher; Alexandra Nemirovski; Eli Shahar; Sarit Ravid; Anthony Luder; Bayan Heno; Ruth Gershoni-Baruch; Karl Skorecki; Hanna Mandel
Journal:  Am J Hum Genet       Date:  2008-06-19       Impact factor: 11.025

8.  GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease.

Authors:  M Henneke; P Combes; S Diekmann; E Bertini; K Brockmann; A P Burlina; J Kaiser; A Ohlenbusch; B Plecko; D Rodriguez; O Boespflug-Tanguy; J Gärtner
Journal:  Neurology       Date:  2007-12-19       Impact factor: 9.910

Review 9.  Genes involved in leukodystrophies: a glance at glial functions.

Authors:  Odile Boespflug-Tanguy; Pierre Labauge; Anne Fogli; Catherine Vaurs-Barriere
Journal:  Curr Neurol Neurosci Rep       Date:  2008-05       Impact factor: 5.081
  9 in total
  8 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.  Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy.

Authors:  Martine Tétreault; Karine Choquet; Simona Orcesi; Davide Tonduti; Umberto Balottin; Martin Teichmann; Sébastien Fribourg; Raphael Schiffmann; Bernard Brais; Adeline Vanderver; Geneviève Bernard
Journal:  Am J Hum Genet       Date:  2011-10-27       Impact factor: 11.025

5.  Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy.

Authors:  Geneviève Bernard; Eliane Chouery; Maria Lisa Putorti; Martine Tétreault; Asako Takanohashi; Giovanni Carosso; Isabelle Clément; Odile Boespflug-Tanguy; Diana Rodriguez; Valérie Delague; Joelle Abou Ghoch; Nadine Jalkh; Imen Dorboz; Sebastien Fribourg; Martin Teichmann; André Megarbane; Raphael Schiffmann; Adeline Vanderver; Bernard Brais
Journal:  Am J Hum Genet       Date:  2011-09-09       Impact factor: 11.025

6.  Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia.

Authors:  Martina Minnerop; Delia Kurzwelly; Holger Wagner; Anne S Soehn; Jennifer Reichbauer; Feifei Tao; Tim W Rattay; Michael Peitz; Kristina Rehbach; Alejandro Giorgetti; Angela Pyle; Holger Thiele; Janine Altmüller; Dagmar Timmann; Ilker Karaca; Martina Lennarz; Jonathan Baets; Holger Hengel; Matthis Synofzik; Burcu Atasu; Shawna Feely; Marina Kennerson; Claudia Stendel; Tobias Lindig; Michael A Gonzalez; Rüdiger Stirnberg; Marc Sturm; Sandra Roeske; Johanna Jung; Peter Bauer; Ebba Lohmann; Stefan Herms; Stefanie Heilmann-Heimbach; Garth Nicholson; Muhammad Mahanjah; Rajech Sharkia; Paolo Carloni; Oliver Brüstle; Thomas Klopstock; Katherine D Mathews; Michael E Shy; Peter de Jonghe; Patrick F Chinnery; Rita Horvath; Jürgen Kohlhase; Ina Schmitt; Michael Wolf; Susanne Greschus; Katrin Amunts; Wolfgang Maier; Ludger Schöls; Peter Nürnberg; Stephan Zuchner; Thomas Klockgether; Alfredo Ramirez; Rebecca Schüle
Journal:  Brain       Date:  2017-06-01       Impact factor: 13.501

7.  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

8.  Hypomyelinating disorders in China: The clinical and genetic heterogeneity in 119 patients.

Authors:  Haoran Ji; Dongxiao Li; Ye Wu; Quanli Zhang; Qiang Gu; Han Xie; Taoyun Ji; Huifang Wang; Lu Zhao; Haijuan Zhao; Yanling Yang; Hongchun Feng; Hui Xiong; Jinhua Ji; Zhixian Yang; Liping Kou; Ming Li; Xinhua Bao; Xingzhi Chang; Yuehua Zhang; Li Li; Huijuan Li; Zhengping Niu; Xiru Wu; Jiangxi Xiao; Yuwu Jiang; Jingmin Wang
Journal:  PLoS One       Date:  2018-02-16       Impact factor: 3.240
  8 in total

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