Literature DB >> 24394289

Dementia in 2013: frontotemporal lobar degeneration-building on breakthroughs.

Julie van der Zee1, Christine Van Broeckhoven1.   

Abstract

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Year:  2014        PMID： 24394289     DOI： 10.1038/nrneurol.2013.270

Source DB:  PubMed          Journal:  Nat Rev Neurol        ISSN： 1759-4758            Impact factor:   42.937


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  10 in total

1.  Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS.

Authors:  Mariely DeJesus-Hernandez; Ian R Mackenzie; Bradley F Boeve; Adam L Boxer; Matt Baker; Nicola J Rutherford; Alexandra M Nicholson; NiCole A Finch; Heather Flynn; Jennifer Adamson; Naomi Kouri; Aleksandra Wojtas; Pheth Sengdy; Ging-Yuek R Hsiung; Anna Karydas; William W Seeley; Keith A Josephs; Giovanni Coppola; Daniel H Geschwind; Zbigniew K Wszolek; Howard Feldman; David S Knopman; Ronald C Petersen; Bruce L Miller; Dennis W Dickson; Kevin B Boylan; Neill R Graff-Radford; Rosa Rademakers
Journal:  Neuron       Date:  2011-09-21       Impact factor: 17.173

Review 2.  Current insights into the C9orf72 repeat expansion diseases of the FTLD/ALS spectrum.

Authors:  Marc Cruts; Ilse Gijselinck; Tim Van Langenhove; Julie van der Zee; Christine Van Broeckhoven
Journal:  Trends Neurosci       Date:  2013-06-07       Impact factor: 13.837

3.  Targeted degradation of sense and antisense C9orf72 RNA foci as therapy for ALS and frontotemporal degeneration.

Authors:  Clotilde Lagier-Tourenne; Michael Baughn; Frank Rigo; Shuying Sun; Patrick Liu; Hai-Ri Li; Jie Jiang; Andrew T Watt; Seung Chun; Melanie Katz; Jinsong Qiu; Ying Sun; Shuo-Chien Ling; Qiang Zhu; Magdalini Polymenidou; Kevin Drenner; Jonathan W Artates; Melissa McAlonis-Downes; Sebastian Markmiller; Kasey R Hutt; Donald P Pizzo; Janet Cady; Matthew B Harms; Robert H Baloh; Scott R Vandenberg; Gene W Yeo; Xiang-Dong Fu; C Frank Bennett; Don W Cleveland; John Ravits
Journal:  Proc Natl Acad Sci U S A       Date:  2013-10-29       Impact factor: 11.205

4.  Characterization of the repeat expansion size in C9orf72 in amyotrophic lateral sclerosis and frontotemporal dementia.

Authors:  Oriol Dols-Icardo; Alberto García-Redondo; Ricard Rojas-García; Raquel Sánchez-Valle; Aina Noguera; Estrella Gómez-Tortosa; Pau Pastor; Isabel Hernández; Jesús Esteban-Pérez; Marc Suárez-Calvet; Sofía Antón-Aguirre; Guillermo Amer; Sara Ortega-Cubero; Rafael Blesa; Juan Fortea; Daniel Alcolea; Aura Capdevila; Anna Antonell; Albert Lladó; José Luís Muñoz-Blanco; Jesús S Mora; Lucía Galán-Dávila; Francisco Javier Rodríguez De Rivera; Alberto Lleó; Jordi Clarimón
Journal:  Hum Mol Genet       Date:  2013-09-20       Impact factor: 6.150

5.  A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study.

Authors:  Ilse Gijselinck; Tim Van Langenhove; Julie van der Zee; Kristel Sleegers; Stéphanie Philtjens; Gernot Kleinberger; Jonathan Janssens; Karolien Bettens; Caroline Van Cauwenberghe; Sandra Pereson; Sebastiaan Engelborghs; Anne Sieben; Peter De Jonghe; Rik Vandenberghe; Patrick Santens; Jan De Bleecker; Githa Maes; Veerle Bäumer; Lubina Dillen; Geert Joris; Ivy Cuijt; Ellen Corsmit; Ellen Elinck; Jasper Van Dongen; Steven Vermeulen; Marleen Van den Broeck; Carolien Vaerenberg; Maria Mattheijssens; Karin Peeters; Wim Robberecht; Patrick Cras; Jean-Jacques Martin; Peter P De Deyn; Marc Cruts; Christine Van Broeckhoven
Journal:  Lancet Neurol       Date:  2011-12-07       Impact factor: 44.182

6.  Dipeptide repeat protein pathology in C9ORF72 mutation cases: clinico-pathological correlations.

Authors:  Ian R Mackenzie; Thomas Arzberger; Elisabeth Kremmer; Dirk Troost; Stefan Lorenzl; Kohji Mori; Shih-Ming Weng; Christian Haass; Hans A Kretzschmar; Dieter Edbauer; Manuela Neumann
Journal:  Acta Neuropathol       Date:  2013-10-06       Impact factor: 17.088

7.  Distinct clinical characteristics of C9orf72 expansion carriers compared with GRN, MAPT, and nonmutation carriers in a Flanders-Belgian FTLD cohort.

Authors:  Tim Van Langenhove; Julie van der Zee; Ilse Gijselinck; Sebastiaan Engelborghs; Rik Vandenberghe; Mathieu Vandenbulcke; Jan De Bleecker; Anne Sieben; Jan Versijpt; Adrian Ivanoiu; Olivier Deryck; Christiana Willems; Lubina Dillen; Stéphanie Philtjens; Githa Maes; Veerle Bäumer; Marleen Van Den Broeck; Maria Mattheijssens; Karin Peeters; Jean-Jacques Martin; Alex Michotte; Patrick Santens; Peter De Jonghe; Patrick Cras; Peter P De Deyn; Marc Cruts; Christine Van Broeckhoven
Journal:  JAMA Neurol       Date:  2013-03-01       Impact factor: 18.302

8.  The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS.

Authors:  Kohji Mori; Shih-Ming Weng; Thomas Arzberger; Stephanie May; Kristin Rentzsch; Elisabeth Kremmer; Bettina Schmid; Hans A Kretzschmar; Marc Cruts; Christine Van Broeckhoven; Christian Haass; Dieter Edbauer
Journal:  Science       Date:  2013-02-07       Impact factor: 47.728

9.  A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD.

Authors:  Alan E Renton; Elisa Majounie; Adrian Waite; Javier Simón-Sánchez; Sara Rollinson; J Raphael Gibbs; Jennifer C Schymick; Hannu Laaksovirta; John C van Swieten; Liisa Myllykangas; Hannu Kalimo; Anders Paetau; Yevgeniya Abramzon; Anne M Remes; Alice Kaganovich; Sonja W Scholz; Jamie Duckworth; Jinhui Ding; Daniel W Harmer; Dena G Hernandez; Janel O Johnson; Kin Mok; Mina Ryten; Danyah Trabzuni; Rita J Guerreiro; Richard W Orrell; James Neal; Alex Murray; Justin Pearson; Iris E Jansen; David Sondervan; Harro Seelaar; Derek Blake; Kate Young; Nicola Halliwell; Janis Bennion Callister; Greg Toulson; Anna Richardson; Alex Gerhard; Julie Snowden; David Mann; David Neary; Michael A Nalls; Terhi Peuralinna; Lilja Jansson; Veli-Matti Isoviita; Anna-Lotta Kaivorinne; Maarit Hölttä-Vuori; Elina Ikonen; Raimo Sulkava; Michael Benatar; Joanne Wuu; Adriano Chiò; Gabriella Restagno; Giuseppe Borghero; Mario Sabatelli; David Heckerman; Ekaterina Rogaeva; Lorne Zinman; Jeffrey D Rothstein; Michael Sendtner; Carsten Drepper; Evan E Eichler; Can Alkan; Ziedulla Abdullaev; Svetlana D Pack; Amalia Dutra; Evgenia Pak; John Hardy; Andrew Singleton; Nigel M Williams; Peter Heutink; Stuart Pickering-Brown; Huw R Morris; Pentti J Tienari; Bryan J Traynor
Journal:  Neuron       Date:  2011-09-21       Impact factor: 17.173

10.  A pan-European study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability, and intermediate repeats.

Authors:  Julie van der Zee; Ilse Gijselinck; Lubina Dillen; Tim Van Langenhove; Jessie Theuns; Sebastiaan Engelborghs; Stéphanie Philtjens; Mathieu Vandenbulcke; Kristel Sleegers; Anne Sieben; Veerle Bäumer; Githa Maes; Ellen Corsmit; Barbara Borroni; Alessandro Padovani; Silvana Archetti; Robert Perneczky; Janine Diehl-Schmid; Alexandre de Mendonça; Gabriel Miltenberger-Miltenyi; Sónia Pereira; José Pimentel; Benedetta Nacmias; Silvia Bagnoli; Sandro Sorbi; Caroline Graff; Huei-Hsin Chiang; Marie Westerlund; Raquel Sanchez-Valle; Albert Llado; Ellen Gelpi; Isabel Santana; Maria Rosário Almeida; Beatriz Santiago; Giovanni Frisoni; Orazio Zanetti; Cristian Bonvicini; Matthis Synofzik; Walter Maetzler; Jennifer Müller Vom Hagen; Ludger Schöls; Michael T Heneka; Frank Jessen; Radoslav Matej; Eva Parobkova; Gabor G Kovacs; Thomas Ströbel; Stayko Sarafov; Ivailo Tournev; Albena Jordanova; Adrian Danek; Thomas Arzberger; Gian Maria Fabrizi; Silvia Testi; Eric Salmon; Patrick Santens; Jean-Jacques Martin; Patrick Cras; Rik Vandenberghe; Peter Paul De Deyn; Marc Cruts; Christine Van Broeckhoven; Julie van der Zee; Ilse Gijselinck; Lubina Dillen; Tim Van Langenhove; Jessie Theuns; Stéphanie Philtjens; Kristel Sleegers; Veerle Bäumer; Githa Maes; Ellen Corsmit; Marc Cruts; Christine Van Broeckhoven; Julie van der Zee; Ilse Gijselinck; Lubina Dillen; Tim Van Langenhove; Stéphanie Philtjens; Jessie Theuns; Kristel Sleegers; Veerle Bäumer; Githa Maes; Marc Cruts; Christine Van Broeckhoven; Sebastiaan Engelborghs; Peter P De Deyn; Patrick Cras; Sebastiaan Engelborghs; Peter P De Deyn; Mathieu Vandenbulcke; Mathieu Vandenbulcke; Barbara Borroni; Alessandro Padovani; Silvana Archetti; Robert Perneczky; Janine Diehl-Schmid; Matthis Synofzik; Walter Maetzler; Jennifer Müller Vom Hagen; Ludger Schöls; Matthis Synofzik; Walter Maetzler; Jennifer Müller Vom Hagen; Ludger Schöls; Michael T Heneka; Frank Jessen; Alfredo Ramirez; Delia Kurzwelly; Carmen Sachtleben; Wolfgang Mairer; Alexandre de Mendonça; Gabriel Miltenberger-Miltenyi; Sónia Pereira; Clara Firmo; José Pimentel; Raquel Sanchez-Valle; Albert Llado; Anna Antonell; Jose Molinuevo; Ellen Gelpi; Caroline Graff; Huei-Hsin Chiang; Marie Westerlund; Caroline Graff; Anne Kinhult Ståhlbom; Håkan Thonberg; Inger Nennesmo; Anne Börjesson-Hanson; Benedetta Nacmias; Silvia Bagnoli; Sandro Sorbi; Valentina Bessi; Irene Piaceri; Isabel Santana; Beatriz Santiago; Isabel Santana; Maria Helena Ribeiro; Maria Rosário Almeida; Catarina Oliveira; João Massano; Carolina Garret; Paula Pires; Giovanni Frisoni; Orazio Zanetti; Cristian Bonvicini; Stayko Sarafov; Ivailo Tournev; Albena Jordanova; Ivailo Tournev; Gabor G Kovacs; Thomas Ströbel; Michael T Heneka; Frank Jessen; Alfredo Ramirez; Delia Kurzwelly; Carmen Sachtleben; Wolfgang Mairer; Frank Jessen; Radoslav Matej; Eva Parobkova; Adrian Danel; Thomas Arzberger; Gian Maria Fabrizi; Silvia Testi; Sergio Ferrari; Tiziana Cavallaro; Eric Salmon; Patrick Santens; Patrick Cras
Journal:  Hum Mutat       Date:  2013-01-04       Impact factor: 4.878
  10 in total
  12 in total

Review 1.  Genetics of Frontotemporal Dementia.

Authors:  Diana A Olszewska; Roisin Lonergan; Emer M Fallon; Tim Lynch
Journal:  Curr Neurol Neurosci Rep       Date:  2016-12       Impact factor: 5.081

Review 2.  The roles of intrinsic disorder-based liquid-liquid phase transitions in the "Dr. Jekyll-Mr. Hyde" behavior of proteins involved in amyotrophic lateral sclerosis and frontotemporal lobar degeneration.

Authors:  Vladimir N Uversky
Journal:  Autophagy       Date:  2017-12-17       Impact factor: 16.016

3.  Frequency of frontotemporal dementia gene variants in C9ORF72, MAPT, and GRN in academic versus commercial laboratory cohorts.

Authors:  Natasha Zr Steele; Alison R Bright; Suzee E Lee; Jamie C Fong; Luke W Bonham; Anna Karydas; Izabela D Karbassi; Mochtar Pribadi; Marc A Meservey; Matthew C Gallen; Eliana Marisa Ramos; Khalida Liaquat; Carol C Hoffman; Meagan R Krasner; Whitney Dodge; Bruce L Miller; Giovanni Coppola; Katherine P Rankin; Jennifer S Yokoyama; Joseph J Higgins
Journal:  Adv Genomics Genet       Date:  2018-10-25

4.  Effects of Multiple Genetic Loci on Age at Onset in Frontotemporal Dementia.

Authors:  Raffaele Ferrari; Mario Grassi; Francesca Graziano; Fernando Palluzzi; Silvana Archetti; Elisa Bonomi; Amalia C Bruni; Raffaele G Maletta; Livia Bernardi; Chiara Cupidi; Rosanna Colao; Innocenzo Rainero; Elisa Rubino; Lorenzo Pinessi; Daniela Galimberti; Elio Scarpini; Maria Serpente; Benedetta Nacmias; Irene Piaceri; Silvia Bagnoli; Giacomina Rossi; Giorgio Giaccone; Fabrizio Tagliavini; Luisa Benussi; Giuliano Binetti; Roberta Ghidoni; Andrew Singleton; John Hardy; Parastoo Momeni; Alessandro Padovani; Barbara Borroni
Journal:  J Alzheimers Dis       Date:  2017       Impact factor: 4.472

Review 5.  Biomarker discovery and development for frontotemporal dementia and amyotrophic lateral sclerosis.

Authors:  Jared S Katzeff; Fiona Bright; Katherine Phan; Jillian J Kril; Lars M Ittner; Michael Kassiou; John R Hodges; Olivier Piguet; Matthew C Kiernan; Glenda M Halliday; Woojin Scott Kim
Journal:  Brain       Date:  2022-06-03       Impact factor: 15.255

Review 6.  Invited review: Frontotemporal dementia caused by microtubule-associated protein tau gene (MAPT) mutations: a chameleon for neuropathology and neuroimaging.

Authors:  B Ghetti; A L Oblak; B F Boeve; K A Johnson; B C Dickerson; M Goedert
Journal:  Neuropathol Appl Neurobiol       Date:  2015-02       Impact factor: 8.090

Review 7.  TDP-43 as a possible biomarker for frontotemporal lobar degeneration: a systematic review of existing antibodies.

Authors:  Joery Goossens; Eugeen Vanmechelen; John Q Trojanowski; Virginia M Y Lee; Christine Van Broeckhoven; Julie van der Zee; Sebastiaan Engelborghs
Journal:  Acta Neuropathol Commun       Date:  2015-04-01       Impact factor: 7.801

Review 8.  Tau physiology and pathomechanisms in frontotemporal lobar degeneration.

Authors:  Liviu-Gabriel Bodea; Anne Eckert; Lars Matthias Ittner; Olivier Piguet; Jürgen Götz
Journal:  J Neurochem       Date:  2016-06-15       Impact factor: 5.372

Review 9.  Phenotypic Heterogeneity of Monogenic Frontotemporal Dementia.

Authors:  Alberto Benussi; Alessandro Padovani; Barbara Borroni
Journal:  Front Aging Neurosci       Date:  2015-09-01       Impact factor: 5.750

10.  ALS/FTD Mutation-Induced Phase Transition of FUS Liquid Droplets and Reversible Hydrogels into Irreversible Hydrogels Impairs RNP Granule Function.

Authors:  Tetsuro Murakami; Seema Qamar; Julie Qiaojin Lin; Gabriele S Kaminski Schierle; Eric Rees; Akinori Miyashita; Ana R Costa; Roger B Dodd; Fiona T S Chan; Claire H Michel; Deborah Kronenberg-Versteeg; Yi Li; Seung-Pil Yang; Yosuke Wakutani; William Meadows; Rodylyn Rose Ferry; Liang Dong; Gian Gaetano Tartaglia; Giorgio Favrin; Wen-Lang Lin; Dennis W Dickson; Mei Zhen; David Ron; Gerold Schmitt-Ulms; Paul E Fraser; Neil A Shneider; Christine Holt; Michele Vendruscolo; Clemens F Kaminski; Peter St George-Hyslop
Journal:  Neuron       Date:  2015-10-29       Impact factor: 17.173
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