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Amyotrophic Lateral Sclerosis Volume 12, 2011 - Issue 1
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Research Article

I112M SOD1 mutation causes ALS with rapid progression and reduced penetrance in four Mediterranean families

Josep Gamez Department of Neurology, Hospital Universitari Vall d'Hebron, Autonomous University of Barcelona, Barcelona, Spain
,
Claudia Caponnetto Department of Neuroscience, Ophthalmology and Genetics
,
Loretta Ferrera Department of Oncology, Biology and Genetics, University of Genova
,
Enrique Syriani Department of Neurology, Hospital Universitari Vall d'Hebron, Autonomous University of Barcelona, Barcelona, Spain
,
Valeria Marini Department of Oncology, Biology and Genetics, University of Genova
,
Miguel Morales Department of Neurology, Hospital Universitari Vall d'Hebron, Autonomous University of Barcelona, Barcelona, Spain
,
Domenico Bordo National Cancer Research Institute, Genova
,
Cristina Pirro Department of Neurology and Otorhinolaryngology, University La Sapienza, Roma, Italy
,
Cecilia Garre Department of Oncology, Biology and Genetics, University of Genova
&
Paola Origone Department of Oncology, Biology and Genetics, University of GenovaCorrespondence[email protected]
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Pages 70-75 | Received 03 Feb 2010, Accepted 19 Apr 2010, Published online: 02 Jun 2010

Citations (7)

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Claudia Ricci, Fabio Giannini, Enrica Intini & Stefania Battistini. (2019) Genotype–phenotype correlation and evidence for a common ancestor in two Italian ALS patients with the D124G SOD1 mutation. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 20:7-8, pages 611-614.
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Antonio Canosa, Andrea Calvo, Cristina Moglia, Marco Barberis, Maura Brunetti, Stefania Cammarosano, Umberto Manera, Antonio Ilardi, Gabriella Restagno & Adriano Chiò. (2015) A novel p.E121G heterozygous missense mutation of SOD1 in an apparently sporadic ALS case with a 14-year course. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 16:1-2, pages 127-128.
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Articles from other publishers (5)

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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Merit Lamp, Paola Origone, Alessandro Geroldi, Simonetta Verdiani, Fabio Gotta, Claudia Caponnetto, Grazia Devigili, Lorenzo Verriello, Carlo Scialò, Corrado Cabona, Antonio Canosa, Irene Vanni, Emilia Bellone, Roberto Eleopra & Paola Mandich. (2018) Twenty years of molecular analyses in amyotrophic lateral sclerosis: genetic landscape of Italian patients. Neurobiology of Aging 66, pages 179.e5-179.e16.
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Kevin B. Boylan, Mark A. Ross & Eric J. Sorenson. 2017. Neurodegeneration. Neurodegeneration 137 160 .
Ji He, Marie Mangelsdorf, Dongsheng Fan, Perry Bartlett & Matthew A. Brown. (2014) Amyotrophic Lateral Sclerosis Genetic Studies. The Neuroscientist 21:6, pages 599-615.
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Kevin Boylan. (2015) Familial Amyotrophic Lateral Sclerosis. Neurologic Clinics 33:4, pages 807-830.
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