Literature DB >> 22619056

Lower motor neuron disease caused by a novel FUS/TLS gene frameshift mutation.

Makoto Hara, Masayuki Minami, Satoshi Kamei, Naoki Suzuki, Masaaki Kato, Masashi Aoki.   

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Year:  2012        PMID： 22619056     DOI： 10.1007/s00415-012-6542-2

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


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  11 in total

1.  Novel FUS/TLS mutations and pathology in familial and sporadic amyotrophic lateral sclerosis.

Authors:  Christopher Hewitt; Janine Kirby; J Robin Highley; Judith A Hartley; Rachael Hibberd; Hannah C Hollinger; Tim L Williams; Paul G Ince; Christopher J McDermott; Pamela J Shaw
Journal:  Arch Neurol       Date:  2010-04

2.  Novel FUS deletion in a patient with juvenile amyotrophic lateral sclerosis.

Authors:  Veronique V Belzil; Jean-Sébastien Langlais; Hussein Daoud; Patrick A Dion; Bernard Brais; Guy A Rouleau
Journal:  Arch Neurol       Date:  2012-05

3.  FUS mutations in familial amyotrophic lateral sclerosis in the Netherlands.

Authors:  Ewout J N Groen; Michael A van Es; Paul W J van Vught; Wim G M Spliet; Jooyeon van Engelen-Lee; Marianne de Visser; John H J Wokke; Helenius J Schelhaas; Roel A Ophoff; Katsumi Fumoto; R Jeroen Pasterkamp; Dennis Dooijes; Edwin Cuppen; Jan H Veldink; Leonard H van den Berg
Journal:  Arch Neurol       Date:  2010-02

4.  FALS with FUS mutation in Japan, with early onset, rapid progress and basophilic inclusion.

Authors:  Naoki Suzuki; Masashi Aoki; Hitoshi Warita; Masaaki Kato; Hideki Mizuno; Naoko Shimakura; Tetsuya Akiyama; Hirokazu Furuya; Toshihiro Hokonohara; Akiko Iwaki; Shinji Togashi; Hidehiko Konno; Yasuto Itoyama
Journal:  J Hum Genet       Date:  2010-03-12       Impact factor: 3.172

5.  Frameshift and novel mutations in FUS in familial amyotrophic lateral sclerosis and ALS/dementia.

Authors:  J Yan; H-X Deng; N Siddique; F Fecto; W Chen; Y Yang; E Liu; S Donkervoort; J G Zheng; Y Shi; K B Ahmeti; B Brooks; W K Engel; T Siddique
Journal:  Neurology       Date:  2010-07-28       Impact factor: 9.910

6.  Multiple system degeneration with basophilic inclusions in Japanese ALS patients with FUS mutation.

Authors:  Takahisa Tateishi; Toshihiro Hokonohara; Ryo Yamasaki; Shiro Miura; Hitoshi Kikuchi; Akiko Iwaki; Hiroshi Tashiro; Hirokazu Furuya; Yuko Nagara; Yasumasa Ohyagi; Nobuyuki Nukina; Toru Iwaki; Yasuyuki Fukumaki; Jun-ichi Kira
Journal:  Acta Neuropathol       Date:  2009-12-05       Impact factor: 17.088

7.  FUS mutations in amyotrophic lateral sclerosis: clinical, pathological, neurophysiological and genetic analysis.

Authors:  Ian P Blair; Kelly L Williams; Sadaf T Warraich; Jennifer C Durnall; Annora D Thoeng; Jim Manavis; Peter C Blumbergs; Steve Vucic; Matthew C Kiernan; Garth A Nicholson
Journal:  J Neurol Neurosurg Psychiatry       Date:  2009-12-03       Impact factor: 10.154

8.  Lower motor neuron degeneration and familial predisposition to colonic neoplasia in two adult siblings.

Authors:  P J Shaw; P G Ince; J Slade; J Burn; N E Cartlidge
Journal:  J Neurol Neurosurg Psychiatry       Date:  1991-11       Impact factor: 10.154

9.  Two Italian kindreds with familial amyotrophic lateral sclerosis due to FUS mutation.

Authors:  Adriano Chiò; Gabriella Restagno; Maura Brunetti; Irene Ossola; Andrea Calvo; Gabriele Mora; Mario Sabatelli; Maria Rosaria Monsurrò; Stefania Battistini; Jessica Mandrioli; Fabrizio Salvi; Rossella Spataro; Jennifer Schymick; Bryan J Traynor; Vincenzo La Bella
Journal:  Neurobiol Aging       Date:  2009-05-17       Impact factor: 4.673

10.  Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6.

Authors:  Caroline Vance; Boris Rogelj; Tibor Hortobágyi; Kurt J De Vos; Agnes Lumi Nishimura; Jemeen Sreedharan; Xun Hu; Bradley Smith; Deborah Ruddy; Paul Wright; Jeban Ganesalingam; Kelly L Williams; Vineeta Tripathi; Safa Al-Saraj; Ammar Al-Chalabi; P Nigel Leigh; Ian P Blair; Garth Nicholson; Jackie de Belleroche; Jean-Marc Gallo; Christopher C Miller; Christopher E Shaw
Journal:  Science       Date:  2009-02-27       Impact factor: 47.728
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  6 in total

Review 1.  Amyotrophic lateral sclerosis: an update on recent genetic insights.

Authors:  Yohei Iguchi; Masahisa Katsuno; Kensuke Ikenaka; Shinsuke Ishigaki; Gen Sobue
Journal:  J Neurol       Date:  2013-10-02       Impact factor: 4.849

Review 2.  The role of FUS gene variants in neurodegenerative diseases.

Authors:  Hao Deng; Kai Gao; Joseph Jankovic
Journal:  Nat Rev Neurol       Date:  2014-05-20       Impact factor: 42.937

3.  Quantitative patterns of motor cortex proteinopathy across ALS genotypes.

Authors:  Matthew Nolan; Connor Scott; Menuka Pallebage Gamarallage; Daniel Lunn; Kilda Carpenter; Elizabeth McDonough; Dan Meyer; Sireesha Kaanumalle; Alberto Santamaria-Pang; Martin R Turner; Kevin Talbot; Olaf Ansorge
Journal:  Acta Neuropathol Commun       Date:  2020-07-02       Impact factor: 7.801

4.  ALS mutant FUS disrupts nuclear localization and sequesters wild-type FUS within cytoplasmic stress granules.

Authors:  Caroline Vance; Emma L Scotter; Agnes L Nishimura; Claire Troakes; Jacqueline C Mitchell; Claudia Kathe; Hazel Urwin; Catherine Manser; Christopher C Miller; Tibor Hortobágyi; Mike Dragunow; Boris Rogelj; Christopher E Shaw
Journal:  Hum Mol Genet       Date:  2013-03-07       Impact factor: 6.150

5.  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

6.  Frameshift peptides alter the properties of truncated FUS proteins in ALS-FUS.

Authors:  Haiyan An; Camille Rabesahala de Meritens; Vladimir L Buchman; Tatyana A Shelkovnikova
Journal:  Mol Brain       Date:  2020-05-13       Impact factor: 4.399
  6 in total

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