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Amyotrophic Lateral Sclerosis Volume 12, 2011 - Issue 2
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Brief Report

A novel L67P SOD1 mutation in an Italian ALS patient

Alessandra del Grande Institute of Neurology, Catholic University of Sacred Heart, Rome
,
Marco Luigetti Institute of Neurology, Catholic University of Sacred Heart, Rome
,
Amelia Conte Institute of Neurology, Catholic University of Sacred Heart, Rome
,
Irene Mancuso Institute of Medical Genetics, Catholic University of Sacred Heart, Rome
,
Serena Lattante Institute of Medical Genetics, Catholic University of Sacred Heart, Rome
,
Giuseppe Marangi Institute of Medical Genetics, Catholic University of Sacred Heart, Rome
,
Giuseppe Stipa Neurophysiopathology Service, Azienda Ospedaliera ‘Santa Maria’, Terni, Italy
,
Marcella Zollino Institute of Medical Genetics, Catholic University of Sacred Heart, Rome
&
Mario Sabatelli Institute of Neurology, Catholic University of Sacred Heart, RomeCorrespondence[email protected]
 show all
Pages 150-152 | Received 19 Nov 2010, Accepted 23 Dec 2010, Published online: 19 Jan 2011

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Ilaria Martinelli, Elisabetta Zucchi, Annalisa Gessani, Nicola Fini, Adriano Chiò, Valentina Pecoraro, Tommaso Trenti & Jessica Mandrioli. (2020) A novel p.N66T mutation in exon 3 of the SOD1 gene: report of two families of ALS patients with early cognitive impairment. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 21:3-4, pages 296-300.
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Dušan Keckarević, Zorica Stević, Milica Keckarević-Marković, Miljana Kecmanović & Stanka Romac. (2012) A novel P66S mutation in exon 3 of the SOD1 gene with early onset and rapid progression. Amyotrophic Lateral Sclerosis 13:2, pages 237-240.
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Charles Krieger, Shelagh Haase & Patrick Scott. (2011) A second ALS patient having an L67P mutation in exon 3 of the Cu/Zn superoxide dismutase gene. Amyotrophic Lateral Sclerosis 12:6, pages 466-467.
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Articles from other publishers (7)

Payam Baziyar, Bagher Seyedalipour & Saman Hosseinkhani. (2022) Zinc binding loop mutations of hSOD1 promote amyloid fibrils under physiological conditions: Implications for initiation of amyotrophic lateral sclerosis. Biochimie 199, pages 170-181.
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Xinmei Wen, Wenjia Zhu, Nan L. Xia, Qianwen Li, Li Di, Shu Zhang, Hai Chen, Yan Lu, Min Wang, Min Xu, Suobin Wang, Xin-Ming Shen, Jie Lu & Yuwei Da. (2021) Missense Mutations of Codon 116 in the SOD1 Gene Cause Rapid Progressive Familial ALS and Predict Short Viability With PMA Phenotype. Frontiers in Genetics 12.
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Stefania Scarlino, Teuta Domi, Laura Pozzi, Alessandro Romano, Giovanni Battista Pipitone, Yuri Matteo Falzone, Lorena Mosca, Silvana Penco, Christian Lunetta, Valeria Sansone, Lucio Tremolizzo, Raffaella Fazio, Federica Agosta, Massimo Filippi, Paola Carrera, Nilo Riva & Angelo Quattrini. (2020) Burden of Rare Variants in ALS and Axonal Hereditary Neuropathy Genes Influence Survival in ALS: Insights from a Next Generation Sequencing Study of an Italian ALS Cohort. International Journal of Molecular Sciences 21:9, pages 3346.
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Sourav Chowdhury, Dwipanjan Sanyal, Sagnik Sen, Vladimir N. Uversky, Ujjwal Maulik & Krishnananda Chattopadhyay. (2019) Evolutionary Analyses of Sequence and Structure Space Unravel the Structural Facets of SOD1. Biomolecules 9:12, pages 826.
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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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Serena LattanteAmelia ConteMarcella ZollinoMarco LuigettiAlessandra Del GrandeGiuseppe MarangiAngela RomanoAlessandro MarcaccioEmiliana MeleoGiulia BisogniPaolo Maria RossiniMario Sabatelli. (2012) Contribution of major amyotrophic lateral sclerosis genes to the etiology of sporadic disease. Neurology 79:1, pages 66-72.
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Wonki Baek, Seong-Ho Koh, Young Seo Kim, Hyun Young Kim, Min-Jung Kwon, Chang-Seok Ki & Seung Hyun Kim. (2014) A Novel Exon 3 Mutation (P66S) in the SOD1 Gene in Familial ALS. Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 39:2, pages 245-246.
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