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Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration Volume 21, 2020 - Issue 3-4
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Genomics & Pathology

The first case of the TARDBP p.G294V mutation in a homozygous state: is a single pathogenic allele sufficient to cause ALS?

Lucia CorradoDepartment of Health Sciences, Human Genetics Laboratory, UPO University, Novara, Italy, Correspondence[email protected]
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Viviana PensatoUnit of Genetics of Neurodegenerative and Metabolic Diseases and Motor Neuron Diseases Centre, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy, View further author information
,
Roberta CroceDepartment of Health Sciences, Human Genetics Laboratory, UPO University, Novara, Italy, View further author information
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Alice Di PierroDepartment of Health Sciences, Human Genetics Laboratory, UPO University, Novara, Italy, View further author information
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Simona MelloneDepartment of Health Sciences, Human Genetics Laboratory, UPO University, Novara, Italy, View further author information
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Eleonora Dalla BellaIII Neurology Unit and Motor Neuron Diseases Centre, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy, View further author information
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Ettore SalsanoX Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy, View further author information
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Elvezia Maria ParaboschiDepartment of Biomedical Sciences, Humanitas University, Milan, Italy, and View further author information
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Mara GiordanoDepartment of Health Sciences, Human Genetics Laboratory, UPO University, Novara, Italy, View further author information
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Massimo SaracenoDepartment of Neurology, UPO University and Maggiore della Carità Hospital, Corso Mazzini, NovaraView further author information
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Letizia MazziniDepartment of Neurology, UPO University and Maggiore della Carità Hospital, Corso Mazzini, NovaraView further author information
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Cinzia GelleraUnit of Genetics of Neurodegenerative and Metabolic Diseases and Motor Neuron Diseases Centre, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy, View further author information
&
Sandra D’AlfonsoDepartment of Health Sciences, Human Genetics Laboratory, UPO University, Novara, Italy, View further author information
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Pages 273-279 | Received 02 Aug 2019, Accepted 05 Dec 2019, Published online: 18 Dec 2019

References

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