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Amyotrophic Lateral Sclerosis Volume 13, 2012 - Issue 1
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Research Article

Recurrent G41S mutation in Cu/Zn superoxide dismutase gene (SOD1) causing familial amyotrophic lateral sclerosis in a large Polish family

Mariusz BerdyńskiLaboratory of Neurogenetics, Department of Neurodegenerative Disorders, Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland;San Raffaele Scientific Institute, Unit of Genomics for Diagnosis of Genetic Diseases, Milan, Italy
,
Magdalena Kuźma-KozakiewiczDepartment of Neurology, Medical University of Warsaw, Warsaw, Poland;San Raffaele Scientific Institute, Unit of Genomics for Diagnosis of Genetic Diseases, Milan, Italy
,
Claudia RicciDepartment of Neurological, Neurosurgical and Behavioural Sciences, University of Siena, Siena, Italy;San Raffaele Scientific Institute, Unit of Genomics for Diagnosis of Genetic Diseases, Milan, Italy
,
Justyna KubiszewskaDepartment of Neurology, Medical University of Warsaw, Warsaw, Poland;San Raffaele Scientific Institute, Unit of Genomics for Diagnosis of Genetic Diseases, Milan, Italy
,
Stéphanie MillecampsCentre de Recherche de l'Institut du Cerveau et de la Moelle Epinière, INSERM UMR_S975, CNRS UMR7225, Université Pierre et Marie Curie-Paris 6, Hôpital Pitié-Salpêtrière, Paris, France;San Raffaele Scientific Institute, Unit of Genomics for Diagnosis of Genetic Diseases, Milan, Italy
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François SalachasFédération des Maladies du Système Nerveux, APHP, Centre de référence maladies rares SLA, Hôpital Pitié-Salpêtrière, Paris, France;San Raffaele Scientific Institute, Unit of Genomics for Diagnosis of Genetic Diseases, Milan, Italy
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Anna ŁusakowskaDepartment of Neurology, Medical University of Warsaw, Warsaw, Poland;San Raffaele Scientific Institute, Unit of Genomics for Diagnosis of Genetic Diseases, Milan, Italy
,
Paola CarreraDepartment of Neurological, Neurosurgical and Behavioural Sciences, University of Siena, Siena, Italy;San Raffaele Scientific Institute, Unit of Genomics for Diagnosis of Genetic Diseases, Milan, Italy
,
Vincent MeiningerFédération des Maladies du Système Nerveux, APHP, Centre de référence maladies rares SLA, Hôpital Pitié-Salpêtrière, Paris, France;San Raffaele Scientific Institute, Unit of Genomics for Diagnosis of Genetic Diseases, Milan, Italy
,
Stefania BattistiniDepartment of Neurological, Neurosurgical and Behavioural Sciences, University of Siena, Siena, Italy;San Raffaele Scientific Institute, Unit of Genomics for Diagnosis of Genetic Diseases, Milan, Italy
,
Hubert KwiecińskiDepartment of Neurology, Medical University of Warsaw, Warsaw, Poland;San Raffaele Scientific Institute, Unit of Genomics for Diagnosis of Genetic Diseases, Milan, Italy
&
Cezary ŻekanowskiLaboratory of Neurogenetics, Department of Neurodegenerative Disorders, Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland;San Raffaele Scientific Institute, Unit of Genomics for Diagnosis of Genetic Diseases, Milan, ItalyCorrespondence[email protected]
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Pages 132-136 | Received 02 May 2011, Accepted 19 Jun 2011, Published online: 30 Aug 2011

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Magdalena Kuźma-Kozakiewicz, Peter M. Andersen, Elahe Elahi, Afagh Alavi, Peter C. Sapp, Mitsuya Morita, Cezary Żekanowski & Mariusz Berdyński. (2021) Putative founder effect in the Polish, Iranian and United States populations for the L144S SOD1 mutation associated with slowly uniform phenotype of amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 22:1-2, pages 80-85.
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Magdalena Kuźma-Kozakiewicz, Mariusz Berdyński, Mitsuya Morita, Yuji Takahashi, Akihiro Kawata, Ken-Ichi Kaida, Beata Kaźmierczak, Anna Łusakowska, Jun Goto, Shoji Tsuji, Cezary Żekanowski & Hubert Kwieciński. (2013) Recurrent K3E mutation in Cu/Zn superoxide dismutase gene associated with amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 14:7-8, pages 608-614.
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Articles from other publishers (2)

Fulya Akçimen, Elia R. Lopez, John E. Landers, Avindra Nath, Adriano Chiò, Ruth Chia & Bryan J. Traynor. (2023) Amyotrophic lateral sclerosis: translating genetic discoveries into therapies. Nature Reviews Genetics 24:9, pages 642-658.
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Claudia Ricci, Fabio Giannini, Giulia Riolo, Silvia Bocci, Stefania Casali & Stefania Battistini. (2021) A Novel Variant in Superoxide Dismutase 1 Gene (p.V119M) in Als Patients with Pure Lower Motor Neuron Presentation. Genes 12:10, pages 1544.
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