Literature DB >> 29236946

Reply: POLR3A variants in hereditary spastic paraplegia and ataxia.

Martina Minnerop1,2, Delia Kurzwelly2,3, Tim W Rattay4,5, Dagmar Timmann6, Holger Hengel4,5, Matthis Synofzik4,5, Claudia Stendel7,8, Rita Horvath9, Rebecca Schüle4,5, Alfredo Ramirez10,11,12,13.   

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Year:  2018        PMID： 29236946      PMCID： PMC5837678          DOI： 10.1093/brain/awx291

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


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  14 in total

1.  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

2.  PLD3 in non-familial Alzheimer's disease.

Authors:  Stefanie Heilmann; Dmitriy Drichel; Jordi Clarimon; Victoria Fernández; André Lacour; Holger Wagner; Mathias Thelen; Isabel Hernández; Juan Fortea; Montserrat Alegret; Rafael Blesa; Ana Mauleón; Maitée Rosende Roca; Johannes Kornhuber; Oliver Peters; Reinhard Heun; Lutz Frölich; Michael Hüll; Michael T Heneka; Eckart Rüther; Steffi Riedel-Heller; Martin Scherer; Jens Wiltfang; Frank Jessen; Tim Becker; Lluís Tárraga; Mercè Boada; Wolfgang Maier; Alberto Lleó; Agustin Ruiz; Markus M Nöthen; Alfredo Ramirez
Journal:  Nature       Date:  2015-04-02       Impact factor: 49.962

3.  Whole-genome sequence variation, population structure and demographic history of the Dutch population.

Authors: 
Journal:  Nat Genet       Date:  2014-06-29       Impact factor: 38.330

4.  POLR3A variants in hereditary spastic paraplegia and ataxia.

Authors:  Laurence Gauquelin; Martine Tétreault; Isabelle Thiffault; Emily Farrow; Neil Miller; Byunggil Yoo; Eric Bareke; Grace Yoon; Oksana Suchowersky; Nicolas Dupré; Mark Tarnopolsky; Bernard Brais; Nicole I Wolf; Jacek Majewski; Guy A Rouleau; Ziv Gan-Or; Geneviève Bernard
Journal:  Brain       Date:  2018-01-01       Impact factor: 13.501

5.  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

6.  Assessing the role of the TREM2 p.R47H variant as a risk factor for Alzheimer's disease and frontotemporal dementia.

Authors:  Agustín Ruiz; Oriol Dols-Icardo; María J Bullido; Pau Pastor; Eloy Rodríguez-Rodríguez; Adolfo López de Munain; Marian M de Pancorbo; Jordi Pérez-Tur; Victoria Alvarez; Anna Antonell; Jesús López-Arrieta; Isabel Hernández; Lluís Tárraga; Mercè Boada; Alberto Lleó; Rafael Blesa; Ana Frank-García; Isabel Sastre; Cristina Razquin; Sara Ortega-Cubero; Elena Lorenzo; Pascual Sánchez-Juan; Onofre Combarros; Fermín Moreno; Ana Gorostidi; Xabier Elcoroaristizabal; Miquel Baquero; Eliecer Coto; Raquel Sánchez-Valle; Jordi Clarimón
Journal:  Neurobiol Aging       Date:  2013-09-13       Impact factor: 4.673

7.  Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism.

Authors:  Hussein Daoud; Martine Tétreault; William Gibson; Kether Guerrero; Ana Cohen; Janina Gburek-Augustat; Matthis Synofzik; Bernard Brais; Cathy A Stevens; Rocio Sanchez-Carpintero; Cyril Goizet; Sakkubai Naidu; Adeline Vanderver; Geneviève Bernard
Journal:  J Med Genet       Date:  2013-01-25       Impact factor: 6.318

8.  TREM2 is associated with the risk of Alzheimer's disease in Spanish population.

Authors:  Bruno A Benitez; Breanna Cooper; Pau Pastor; Sheng-Chih Jin; Elena Lorenzo; Sebastian Cervantes; Carlos Cruchaga
Journal:  Neurobiol Aging       Date:  2013-02-05       Impact factor: 4.673

9.  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.  Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease.

Authors:  Celeste M Karch; Sheng Chih Jin; Carlos Cruchaga; Bruno A Benitez; Yefei Cai; Rita Guerreiro; Oscar Harari; Joanne Norton; John Budde; Sarah Bertelsen; Amanda T Jeng; Breanna Cooper; Tara Skorupa; David Carrell; Denise Levitch; Simon Hsu; Jiyoon Choi; Mina Ryten; Celeste Sassi; Jose Bras; Raphael J Gibbs; Dena G Hernandez; Michelle K Lupton; John Powell; Paola Forabosco; Perry G Ridge; Christopher D Corcoran; JoAnn T Tschanz; Maria C Norton; Ronald G Munger; Cameron Schmutz; Maegan Leary; F Yesim Demirci; Mikhil N Bamne; Xingbin Wang; Oscar L Lopez; Mary Ganguli; Christopher Medway; James Turton; Jenny Lord; Anne Braae; Imelda Barber; Kristelle Brown; Pau Pastor; Oswaldo Lorenzo-Betancor; Zoran Brkanac; Erick Scott; Eric Topol; Kevin Morgan; Ekaterina Rogaeva; Andy Singleton; John Hardy; M Ilyas Kamboh; Peter St George-Hyslop; Nigel Cairns; John C Morris; John S K Kauwe; Alison M Goate
Journal:  Nature       Date:  2013-12-11       Impact factor: 49.962
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  3 in total

1.  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

2.  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

3.  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
  3 in total

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