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Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration Volume 16, 2015 - Issue 1-2
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CLINICAL

A novel p.E121G heterozygous missense mutation of SOD1 in an apparently sporadic ALS case with a 14-year course

Antonio CanosaALS Centre, ‘Rita Levi Montalcini’ Department of Neuroscience, University of Torino, Turin, Italy;Department of Neuroscience, Ophthalmology, Genetics, Rehabilitation and Child Health, University of Genova, Genoa, ItalyCorrespondence[email protected]
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Andrea CalvoALS Centre, ‘Rita Levi Montalcini’ Department of Neuroscience, University of Torino, Turin, Italy;Neurologia 2, Azienda Ospedaliero Universitaria Città della Salute e della Scienza di Torino, Turin, Italy;Neuroscience Institute of Torino (NIT), Turin, Italy
,
Cristina MogliaALS Centre, ‘Rita Levi Montalcini’ Department of Neuroscience, University of Torino, Turin, Italy
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Marco BarberisALS Centre, ‘Rita Levi Montalcini’ Department of Neuroscience, University of Torino, Turin, Italy;Laboratory of Molecular Genetics, Azienda Ospedaliero Universitaria Città della Salute e della Scienza di Torino, Turin, Italy
,
Maura BrunettiALS Centre, ‘Rita Levi Montalcini’ Department of Neuroscience, University of Torino, Turin, Italy;Laboratory of Molecular Genetics, Azienda Ospedaliero Universitaria Città della Salute e della Scienza di Torino, Turin, Italy
,
Stefania CammarosanoALS Centre, ‘Rita Levi Montalcini’ Department of Neuroscience, University of Torino, Turin, Italy
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Umberto ManeraALS Centre, ‘Rita Levi Montalcini’ Department of Neuroscience, University of Torino, Turin, Italy
,
Antonio IlardiALS Centre, ‘Rita Levi Montalcini’ Department of Neuroscience, University of Torino, Turin, Italy
,
Gabriella RestagnoLaboratory of Molecular Genetics, Azienda Ospedaliero Universitaria Città della Salute e della Scienza di Torino, Turin, Italy
&
Adriano ChiòALS Centre, ‘Rita Levi Montalcini’ Department of Neuroscience, University of Torino, Turin, Italy;Neurologia 2, Azienda Ospedaliero Universitaria Città della Salute e della Scienza di Torino, Turin, Italy;Neuroscience Institute of Torino (NIT), Turin, Italy
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Pages 127-128 | Received 01 Sep 2014, Accepted 12 Sep 2014, Published online: 09 Oct 2014

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Guillaume Taieb, Anne Polge, Raul Juntas-Morales, Nicolas Pageot, Serge Lumbroso, Kevin Mouzat & William Camu. (2017) Slowly progressive motor neuron disease with multi-system involvement related to p.E121G SOD1 mutation. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 18:3-4, pages 296-297.
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Cinzia Lucchesi, Elena Caldarazzo Ienco, Monica Fabbrini, Livia Pasquali, Annalisa Lo Gerfo, Antonella Fogli & Gabriele Siciliano. (2017) Amyotrophic lateral sclerosis with long lasting disease course and SOD1 and TARDBP mutations: Report of two cases and overview of the literature. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 18:1-2, pages 137-139.
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. (2015) Theme 2 ALS Heterogeneity and Disease Progression. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 16:sup1, pages 73-84.
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Articles from other publishers (2)

Owen Connolly, Laura Le Gall, Gavin McCluskey, Colette G Donaghy, William J Duddy & Stephanie Duguez. (2020) A Systematic Review of Genotype–Phenotype Correlation across Cohorts Having Causal Mutations of Different Genes in ALS. Journal of Personalized Medicine 10:3, pages 58.
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Gareth S. A. Wright, Svetlana V. Antonyuk & S. Samar Hasnain. (2019) The biophysics of superoxide dismutase-1 and amyotrophic lateral sclerosis. Quarterly Reviews of Biophysics 52.
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