Literature DB >> 34484918

Novel Mutation in the POLR1C Gene Causing Hypomyelinating Leukodystrophy in an Adult.

Nishtha Yadav1, Jitender Saini1, Madhu Nagappa1.   

Abstract

Entities:  

Year:  2021        PMID: 34484918      PMCID: PMC8382358          DOI: 10.1212/CPJ.0000000000001002

Source DB:  PubMed          Journal:  Neurol Clin Pract        ISSN: 2163-0402


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  6 in total

1.  Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome.

Authors:  Johannes G Dauwerse; Jill Dixon; Saskia Seland; Claudia A L Ruivenkamp; Arie van Haeringen; Lies H Hoefsloot; Dorien J M Peters; Agnes Clement-de Boers; Cornelia Daumer-Haas; Robert Maiwald; Christiane Zweier; Bronwyn Kerr; Ana M Cobo; Joaquín F Toral; A Jeannette M Hoogeboom; Dietmar R Lohmann; Ute Hehr; Michael J Dixon; Martijn H Breuning; Dagmar Wieczorek
Journal:  Nat Genet       Date:  2010-12-05       Impact factor: 38.330

2.  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

3.  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

4.  Novel POLR1C mutation in RNA polymerase III-related leukodystrophy with severe myoclonus and dystonia.

Authors:  Ichraf Kraoua; Adnane Karkar; Cyrine Drissi; Hanene Benrhouma; Hedia Klaa; Simon Samaan; Florence Renaldo; Monique Elmaleh; Mohamed Ben Hamouda; Sonia Abdelhak; Odile Boespflug-Tanguy; Ilfghem Ben Youssef-Turki; Imen Dorboz
Journal:  Mol Genet Genomic Med       Date:  2019-07-31       Impact factor: 2.183

5.  Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III.

Authors:  Isabelle Thiffault; Nicole I Wolf; Diane Forget; Kether Guerrero; Luan T Tran; Karine Choquet; Mathieu Lavallée-Adam; Christian Poitras; Bernard Brais; Grace Yoon; Laszlo Sztriha; Richard I Webster; Dagmar Timmann; Bart P van de Warrenburg; Jürgen Seeger; Alíz Zimmermann; Adrienn Máté; Cyril Goizet; Eva Fung; Marjo S van der Knaap; Sébastien Fribourg; Adeline Vanderver; Cas Simons; Ryan J Taft; John R Yates; Benoit Coulombe; Geneviève Bernard
Journal:  Nat Commun       Date:  2015-07-07       Impact factor: 14.919

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
  6 in total

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