Literature DB >> 29228109

POLR3A variants in hereditary spastic paraplegia and ataxia.

Laurence Gauquelin1,2, Martine Tétreault3,4, Isabelle Thiffault5, Emily Farrow5, Neil Miller5, Byunggil Yoo5, Eric Bareke3,4, Grace Yoon6,7, Oksana Suchowersky8, Nicolas Dupré9, Mark Tarnopolsky10, Bernard Brais3,11, Nicole I Wolf12, Jacek Majewski3,4, Guy A Rouleau11, Ziv Gan-Or3,11, Geneviève Bernard1,2,13,14.   

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Year:  2018        PMID： 29228109      PMCID： PMC5837469          DOI： 10.1093/brain/awx290

Source DB:  PubMed          Journal:  Brain        ISSN： 0006-8950            Impact factor:   13.501


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  10 in total

1.  Tremor-ataxia with central hypomyelination (TACH) leukodystrophy maps to chromosome 10q22.3-10q23.31.

Authors:  Geneviève Bernard; Isabelle Thiffault; Martine Tetreault; Maria Lisa Putorti; Isabelle Bouchard; Michel Sylvain; Serge Melançon; Rachel Laframboise; Pierre Langevin; Jean-Pierre Bouchard; Michel Vanasse; Adeline Vanderver; Guillaume Sébire; Bernard Brais
Journal:  Neurogenetics       Date:  2010-07-17       Impact factor: 2.660

2.  Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations.

Authors:  Nicole I Wolf; Adeline Vanderver; Rosalina M L van Spaendonk; Raphael Schiffmann; Bernard Brais; Marianna Bugiani; Erik Sistermans; Coriene Catsman-Berrevoets; Johan M Kros; Pedro Soares Pinto; Daniela Pohl; Sandya Tirupathi; Petter Strømme; Ton de Grauw; Sébastien Fribourg; Michelle Demos; Amy Pizzino; Sakkubai Naidu; Kether Guerrero; Marjo S van der Knaap; Geneviève Bernard
Journal:  Neurology       Date:  2014-10-22       Impact factor: 9.910

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.  Leukoencephalopathy with ataxia, hypodontia, and hypomyelination.

Authors:  N I Wolf; I Harting; E Boltshauser; G Wiegand; M J Koch; T Schmitt-Mechelke; E Martin; J Zschocke; B Uhlenberg; G F Hoffmann; L Weber; F Ebinger; D Rating
Journal:  Neurology       Date:  2005-04-26       Impact factor: 9.910

5.  Peripheral and central hypomyelination with hypogonadotropic hypogonadism and hypodontia.

Authors:  M Timmons; M Tsokos; M Abu Asab; S B Seminara; G C Zirzow; C R Kaneski; J D Heiss; M S van der Knaap; M T Vanier; R Schiffmann; K Wong
Journal:  Neurology       Date:  2006-12-12       Impact factor: 9.910

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.  POLR3A and POLR3B Mutations in Unclassified Hypomyelination.

Authors:  Ferdy K Cayami; Roberta La Piana; Rosalina M L van Spaendonk; Miriam Nickel; Annette Bley; Kether Guerrero; Luan T Tran; Marjo S van der Knaap; Geneviève Bernard; Nicole I Wolf
Journal:  Neuropediatrics       Date:  2015-05-08       Impact factor: 1.947

8.  Transcriptome-wide effects of a POLR3A gene mutation in patients with an unusual phenotype of striatal involvement.

Authors:  Dimitar N Azmanov; Stefan J Siira; Teodora Chamova; Ara Kaprelyan; Velina Guergueltcheva; Anne-Marie J Shearwood; Ganqiang Liu; Bharti Morar; Oliver Rackham; Michael Bynevelt; Margarita Grudkova; Zdravko Kamenov; Vassil Svechtarov; Ivailo Tournev; Luba Kalaydjieva; Aleksandra Filipovska
Journal:  Hum Mol Genet       Date:  2016-08-09       Impact factor: 6.150

9.  Brain magnetic resonance imaging (MRI) pattern recognition in Pol III-related leukodystrophies.

Authors:  Roberta La Piana; Davide Tonduti; Heather Gordish Dressman; Johanna L Schmidt; Jonathan Murnick; Bernard Brais; Genevieve Bernard; Adeline Vanderver
Journal:  J Child Neurol       Date:  2013-10-07       Impact factor: 1.987

10.  Diffuse hypomyelination is not obligate for POLR3-related disorders.

Authors:  Roberta La Piana; Ferdy K Cayami; Luan T Tran; Kether Guerrero; Rosalina van Spaendonk; Katrin Õunap; Sander Pajusalu; Tobias Haack; Evangeline Wassmer; Dagmar Timmann; Hanna Mierzewska; Bwee T Poll-Thé; Chirag Patel; Helen Cox; Tahir Atik; Huseyin Onay; Ferda Ozkınay; Adeline Vanderver; Marjo S van der Knaap; Nicole I Wolf; Geneviève Bernard
Journal:  Neurology       Date:  2016-03-30       Impact factor: 9.910
  10 in total
  7 in total

1.  Reply: POLR3A variants in hereditary spastic paraplegia and ataxia.

Authors:  Martina Minnerop; Delia Kurzwelly; Tim W Rattay; Dagmar Timmann; Holger Hengel; Matthis Synofzik; Claudia Stendel; Rita Horvath; Rebecca Schüle; Alfredo Ramirez
Journal:  Brain       Date:  2018-01-01       Impact factor: 13.501

Review 2.  Importance of lipids for upper motor neuron health and disease.

Authors:  Aksu Gunay; Heather H Shin; Oge Gozutok; Mukesh Gautam; P Hande Ozdinler
Journal:  Semin Cell Dev Biol       Date:  2020-12-13       Impact factor: 7.727

3.  Biallelic POLR3A variants confirmed as a frequent cause of hereditary ataxia and spastic paraparesis.

Authors:  Siri L Rydning; Jeanette Koht; Ying Sheng; Piotr Sowa; Hanne S Hjorthaug; Iselin M Wedding; Anne Kjersti Erichsen; Inger Anette Hovden; Paul H Backe; Chantal M E Tallaksen; Magnus D Vigeland; Kaja K Selmer
Journal:  Brain       Date:  2019-04-01       Impact factor: 13.501

Review 4.  Challenges and Controversies in the Genetic Diagnosis of Hereditary Spastic Paraplegia.

Authors:  Lydia Saputra; Kishore Raj Kumar
Journal:  Curr Neurol Neurosci Rep       Date:  2021-02-28       Impact factor: 5.081

5.  Spinal cord-predominant neuropathology in an adult-onset case of POLR3A-related spastic ataxia.

Authors:  Trevor M Sytsma; Dong-Hui Chen; Bradley Rolf; Michael Dorschner; Suman Jayadev; C Dirk Keene; Jing Zhang; Thomas D Bird; Caitlin S Latimer
Journal:  Neuropathology       Date:  2021-11-09       Impact factor: 2.076

6.  Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variants.

Authors:  Laurence Gauquelin; Ferdy K Cayami; László Sztriha; Grace Yoon; Luan T Tran; Kether Guerrero; François Hocke; Rosalina M L van Spaendonk; Eva L Fung; Stefano D'Arrigo; Gessica Vasco; Isabelle Thiffault; Dmitriy M Niyazov; Richard Person; Kara Stuart Lewis; Evangeline Wassmer; Trine Prescott; Penny Fallon; Meriel McEntagart; Julia Rankin; Richard Webster; Heike Philippi; Bart van de Warrenburg; Dagmar Timmann; Abhijit Dixit; Claire Searle; Nivedita Thakur; Michael C Kruer; Suvasini Sharma; Adeline Vanderver; Davide Tonduti; Marjo S van der Knaap; Enrico Bertini; Cyril Goizet; Sébastien Fribourg; Nicole I Wolf; Geneviève Bernard
Journal:  Neurol Genet       Date:  2019-10-30

7.  POLR3A variants with striatal involvement and extrapyramidal movement disorder.

Authors:  Inga Harting; Murtadha Al-Saady; Ingeborg Krägeloh-Mann; Annette Bley; Maja Hempel; Tatjana Bierhals; Stephanie Karch; Ute Moog; Geneviève Bernard; Richard Huntsman; Rosalina M L van Spaendonk; Maaike Vreeburg; Agustí Rodríguez-Palmero; Aurora Pujol; Marjo S van der Knaap; Petra J W Pouwels; Nicole I Wolf
Journal:  Neurogenetics       Date:  2020-01-15       Impact factor: 2.660
  7 in total

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