Literature DB >> 31314961

Phenotype in an Infant with SOD1 Homozygous Truncating Mutation.

Peter M Andersen1, Ulrika Nordström1, Konstantinos Tsiakas2, Jessika Johannsen2, Alexander E Volk2, Tatjana Bierhals2, Per Zetterström3, Stefan L Marklund3, Maja Hempel2, René Santer2.   

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Year:  2019        PMID： 31314961     DOI： 10.1056/NEJMc1905039

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


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  12 in total

Review 1.  Approaches to Gene Modulation Therapy for ALS.

Authors:  Katharina E Meijboom; Robert H Brown
Journal:  Neurotherapeutics       Date:  2022-09-06       Impact factor: 6.088

Review 2.  Novel genome-editing-based approaches to treat motor neuron diseases: Promises and challenges.

Authors:  Annarita Miccio; Panagiotis Antoniou; Sorana Ciura; Edor Kabashi
Journal:  Mol Ther       Date:  2021-04-03       Impact factor: 11.454

3.  Progressive spastic tetraplegia and axial hypotonia (STAHP) due to SOD1 deficiency: is it really a new entity?

Authors:  Paulo Victor Sgobbi de Souza; Wladimir Bocca Vieira de Rezende Pinto; Igor Braga Farias; Bruno de Mattos Lombardi Badia; Icaro França Navarro Pinto; Gustavo Carvalho Costa; Carolina Maria Marin; Ana Carolina Dos Santos Jorge; Emília Correia Souto; Paulo de Lima Serrano; Roberta Ismael Lacerda Machado; Marco Antônio Troccoli Chieia; Enrico Bertini; Acary Souza Bulle Oliveira
Journal:  Orphanet J Rare Dis       Date:  2021-08-11       Impact factor: 4.123

4.  SOD1 mutations associated with amyotrophic lateral sclerosis analysis of variant severity.

Authors:  Mariusz Berdyński; Przemysław Miszta; Krzysztof Safranow; Peter M Andersen; Mitsuya Morita; Sławomir Filipek; Cezary Żekanowski; Magdalena Kuźma-Kozakiewicz
Journal:  Sci Rep       Date:  2022-01-07       Impact factor: 4.379

5.  Reduced SOD2 expression does not influence prion disease course or pathology in mice.

Authors:  Simote T Foliaki; Brent Race; Katie Williams; Chase Baune; Bradley R Groveman; Cathryn L Haigh
Journal:  PLoS One       Date:  2021-11-04       Impact factor: 3.240

6.  Alteration of Mitochondrial Integrity as Upstream Event in the Pathophysiology of SOD1-ALS.

Authors:  René Günther; Arun Pal; Chloe Williams; Vitaly L Zimyanin; Maria Liehr; Cläre von Neubeck; Mechthild Krause; Mrudula G Parab; Susanne Petri; Norman Kalmbach; Stefan L Marklund; Jared Sterneckert; Peter Munch Andersen; Florian Wegner; Jonathan D Gilthorpe; Andreas Hermann
Journal:  Cells       Date:  2022-04-06       Impact factor: 6.600

7.  Premature termination codons in SOD1 causing Amyotrophic Lateral Sclerosis are predicted to escape the nonsense-mediated mRNA decay.

Authors:  Claire Guissart; Kevin Mouzat; Jovana Kantar; Baptiste Louveau; Paul Vilquin; Anne Polge; Cédric Raoul; Serge Lumbroso
Journal:  Sci Rep       Date:  2020-11-26       Impact factor: 4.379

Review 8.  Does wild-type Cu/Zn-superoxide dismutase have pathogenic roles in amyotrophic lateral sclerosis?

Authors:  Yoshiaki Furukawa; Eiichi Tokuda
Journal:  Transl Neurodegener       Date:  2020-08-19       Impact factor: 8.014

Review 9.  Superoxide Radicals in the Execution of Cell Death.

Authors:  Junichi Fujii; Takujiro Homma; Tsukasa Osaki
Journal:  Antioxidants (Basel)       Date:  2022-03-04

10.  A knockout mutation associated with juvenile paroxysmal dyskinesia in Markiesje dogs indicates SOD1 pleiotropy.

Authors:  P J J Mandigers; F G Van Steenbeek; W Bergmann; M Vos-Loohuis; P A Leegwater
Journal:  Hum Genet       Date:  2021-03-07       Impact factor: 4.132
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