Literature DB >> 28373810

A Turkish Family with a Familial ALS-positive UBQLN2-S340I Mutation.

Dilcan Kotan1, Ceren Iskender2, Aslıhan Özoğuz Erimiş2, A Nazlı Başak2.   

Abstract

Entities:  

Year:  2016        PMID： 28373810      PMCID： PMC5378209          DOI： 10.5152/npa.2016.12371

Source DB:  PubMed          Journal:  Noro Psikiyatr Ars        ISSN： 1300-0667            Impact factor:   1.339


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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.  Rate of familial amyotrophic lateral sclerosis: a systematic review and meta-analysis.

Authors:  Susan Byrne; Cathal Walsh; Catherine Lynch; Peter Bede; Marwa Elamin; Kevin Kenna; Russell McLaughlin; Orla Hardiman
Journal:  J Neurol Neurosurg Psychiatry       Date:  2010-11-03       Impact factor: 10.154

Review 3.  Amyotrophic lateral sclerosis: pathophysiology, diagnosis and management.

Authors:  Paul H Gordon
Journal:  CNS Drugs       Date:  2011-01       Impact factor: 5.749

4.  Familial amyotrophic lateral sclerosis mutants of copper/zinc superoxide dismutase are susceptible to disulfide reduction.

Authors:  Ashutosh Tiwari; Lawrence J Hayward
Journal:  J Biol Chem       Date:  2002-11-27       Impact factor: 5.157

5.  Exome sequencing reveals VCP mutations as a cause of familial ALS.

Authors:  Janel O Johnson; Jessica Mandrioli; Michael Benatar; Yevgeniya Abramzon; Vivianna M Van Deerlin; John Q Trojanowski; J Raphael Gibbs; Maura Brunetti; Susan Gronka; Joanne Wuu; Jinhui Ding; Leo McCluskey; Maria Martinez-Lage; Dana Falcone; Dena G Hernandez; Sampath Arepalli; Sean Chong; Jennifer C Schymick; Jeffrey Rothstein; Francesco Landi; Yong-Dong Wang; Andrea Calvo; Gabriele Mora; Mario Sabatelli; Maria Rosaria Monsurrò; Stefania Battistini; Fabrizio Salvi; Rossella Spataro; Patrizia Sola; Giuseppe Borghero; Giuliana Galassi; Sonja W Scholz; J Paul Taylor; Gabriella Restagno; Adriano Chiò; Bryan J Traynor
Journal:  Neuron       Date:  2010-12-09       Impact factor: 17.173

Review 6.  Protein aggregation diseases: pathogenicity and therapeutic perspectives.

Authors:  Adriano Aguzzi; Tracy O'Connor
Journal:  Nat Rev Drug Discov       Date:  2010-03       Impact factor: 84.694

Review 7.  Cognitive impairment in amyotrophic lateral sclerosis.

Authors:  Julie Phukan; Niall P Pender; Orla Hardiman
Journal:  Lancet Neurol       Date:  2007-11       Impact factor: 44.182

8.  Aggregation and motor neuron toxicity of an ALS-linked SOD1 mutant independent from wild-type SOD1.

Authors:  L I Bruijn; M K Houseweart; S Kato; K L Anderson; S D Anderson; E Ohama; A G Reaume; R W Scott; D W Cleveland
Journal:  Science       Date:  1998-09-18       Impact factor: 47.728

9.  Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia.

Authors:  Han-Xiang Deng; Wenjie Chen; Seong-Tshool Hong; Kym M Boycott; George H Gorrie; Nailah Siddique; Yi Yang; Faisal Fecto; Yong Shi; Hong Zhai; Hujun Jiang; Makito Hirano; Evadnie Rampersaud; Gerard H Jansen; Sandra Donkervoort; Eileen H Bigio; Benjamin R Brooks; Kaouther Ajroud; Robert L Sufit; Jonathan L Haines; Enrico Mugnaini; Margaret A Pericak-Vance; Teepu Siddique
Journal:  Nature       Date:  2011-08-21       Impact factor: 49.962

10.  The non-protein amino acid BMAA is misincorporated into human proteins in place of L-serine causing protein misfolding and aggregation.

Authors:  Rachael Anne Dunlop; Paul Alan Cox; Sandra Anne Banack; Kenneth John Rodgers
Journal:  PLoS One       Date:  2013-09-25       Impact factor: 3.240
  10 in total
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Review 1.  Neuroimaging in genetic frontotemporal dementia and amyotrophic lateral sclerosis.

Authors:  Suvi Häkkinen; Stephanie A Chu; Suzee E Lee
Journal:  Neurobiol Dis       Date:  2020-09-02       Impact factor: 5.996
  1 in total

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