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Amyotrophic Lateral Sclerosis Volume 12, 2011 - Issue 3
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SHORT REPORT

Sporadic motor neuron disease in a familial novel SOD1 mutation: Incomplete penetrance or chance association?

Francesca L. Conforti Institute of Neurological Sciences, National Research Council, Mangone, Cosenza, Italy
,
Rita Barone Department of Neurosciences, University of Catania, Catania
,
Salvatore Lo Fermo Department of Neurosciences, University of Catania, Catania
,
Claudia Giliberto Department of Neurosciences, University of Catania, Catania
,
Francesco Patti Department of Neurosciences, University of Catania, Catania
,
Antonio Gambardella Institute of Neurological Sciences, National Research Council, Mangone, Cosenza, Italy
,
Aldo Quattrone Institute of Neurological Sciences, National Research Council, Mangone, Cosenza, Italy
&
Mario Zappia Department of Neurosciences, University of Catania, CataniaCorrespondence[email protected]
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Pages 220-222 | Received 21 Sep 2010, Accepted 03 Dec 2010, Published online: 05 May 2011

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Fabio Coppedè, Andrea Stoccoro, Lorena Mosca, Roberta Gallo, Claudia Tarlarini, Christian Lunetta, Alessandro Marocchi, Lucia Migliore & Silvana Penco. (2018) Increase in DNA methylation in patients with amyotrophic lateral sclerosis carriers of not fully penetrant SOD1 mutations. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 19:1-2, pages 93-101.
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Jaime Vengoechea, Marjorie P. David, Shadi R. Yaghi, Lori Carpenter & Stacy A. Rudnicki. (2013) Clinical variability and female penetrance in X-linked familial FTD/ALS caused by a P506S mutation in UBQLN2. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 14:7-8, pages 615-619.
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Articles from other publishers (4)

Serena Lattante, Giuseppe Marangi, Paolo Niccolò Doronzio, Amelia Conte, Giulia Bisogni, Marcella Zollino & Mario Sabatelli. (2020) High-Throughput Genetic Testing in ALS: The Challenging Path of Variant Classification Considering the ACMG Guidelines. Genes 11:10, pages 1123.
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Lien Nguyen, Fabio Montrasio, Amrutha Pattamatta, Solaleh Khoramian Tusi, Olgert Bardhi, Kevin D. Meyer, Lindsey Hayes, Katsuya Nakamura, Monica Banez-Coronel, Alyssa Coyne, Shu Guo, Lauren A. Laboissonniere, Yuanzheng Gu, Saravanakumar Narayanan, Benjamin Smith, Roger M. Nitsch, Mark W. Kankel, Mia Rushe, Jeffrey Rothstein, Tao Zu, Jan Grimm & Laura P.W. Ranum. (2020) Antibody Therapy Targeting RAN Proteins Rescues C9 ALS/FTD Phenotypes in C9orf72 Mouse Model. Neuron 105:4, pages 645-662.e11.
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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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Mfon E. UmohChristina FournierYingjie LiMeraida PolakLatoya ShawJohn E. LandersWilliam HuMarla GearingJonathan D. Glass. (2016) Comparative analysis of C9orf72 and sporadic disease in an ALS clinic population. Neurology 87:10, pages 1024-1030.
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