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Amyotrophic Lateral Sclerosis Volume 12, 2011 - Issue 5
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Research Article

A novel T137A SOD1 mutation in an Italian family with two subjects affected by amyotrophic lateral sclerosis

Michela VisaniDepartment of Experimental Pathology, University of Bologna;Department of Haematology and Oncological Sciences ‘L. and A. Seragnoli’, Section of Anatomic Pathology at Bellaria Hospital, University of Bologna
,
Dario de BiaseDepartment of Experimental Pathology, University of Bologna;Department of Haematology and Oncological Sciences ‘L. and A. Seragnoli’, Section of Anatomic Pathology at Bellaria Hospital, University of BolognaCorrespondence[email protected]
,
Ilaria Bartolomei U.O.C. of Neurology, Bellaria Hospital, Bologna
,
Rosaria Plasmati U.O.C. of Neurology, Bellaria Hospital, Bologna
,
Luca MorandiDepartment of Haematology and Oncological Sciences ‘L. and A. Seragnoli’, Section of Anatomic Pathology at Bellaria Hospital, University of Bologna
,
Giovanna CenacchiRadiological and Histopathological Clinical Department, Section of Anatomic Pathology, Bologna University Hospital St. Orsola-Malpighi, Bologna, Italy
,
Fabrizio Salvi U.O.C. of Neurology, Bellaria Hospital, Bologna
&
Annalisa PessionDepartment of Experimental Pathology, University of Bologna
 show all
Pages 385-388 | Received 10 Mar 2011, Accepted 15 Apr 2011, Published online: 16 May 2011

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Paola Origone, Claudia Caponnetto, Simonetta Verdiani, Vittorio Mantero, Elena Cichero, Paola Fossa, Emilia Bellone, Gianluigi Mancardi & Paola Mandich. (2012) T137A variant is a pathogenetic SOD1 mutation associated with a slowly progressive ALS phenotype. Amyotrophic Lateral Sclerosis 13:4, pages 398-399.
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Articles from other publishers (7)

Anna Bartoletti-Stella, Veria Vacchiano, Silvia De Pasqua, Giacomo Mengozzi, Dario De Biase, Ilaria Bartolomei, Patrizia Avoni, Giovanni Rizzo, Piero Parchi, Vincenzo Donadio, Adriano Chiò, Annalisa Pession, Federico Oppi, Fabrizio Salvi, Rocco Liguori & Sabina Capellari. (2021) Targeted sequencing panels in Italian ALS patients support different etiologies in the ALS/FTD continuum. Journal of Neurology 268:10, pages 3766-3776.
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Giacomo Tondo, Leonardo Iaccarino, Chiara Cerami, Giovanna Emilia Vanoli, Luca Presotto, Valeria Masiello, Angela Coliva, Fabrizio Salvi, Ilaria Bartolomei, Lorena Mosca, Christian Lunetta & Daniela Perani. (2020) 11 C‐PK11195 PET–based molecular study of microglia activation in SOD1 amyotrophic lateral sclerosis . Annals of Clinical and Translational Neurology 7:9, pages 1513-1523.
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Shruthi Shanmukha, Gayathri Narayanappa, Atchayaram Nalini, Phalguni Anand Alladi & Trichur R. Raju. (2018) Sporadic amyotrophic lateral sclerosis (SALS) – skeletal muscle response to cerebrospinal fluid from SALS patients in a rat model. Disease Models & Mechanisms 11:4.
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Maria Pia Giannoccaro, Anna Bartoletti-Stella, Silvia Piras, Annalisa Pession, Patrizia De Massis, Federico Oppi, Michelangelo Stanzani-Maserati, Elena Pasini, Simone Baiardi, Patrizia Avoni, Piero Parchi, Rocco Liguori & Sabina Capellari. (2017) Multiple variants in families with amyotrophic lateral sclerosis and frontotemporal dementia related to C9orf72 repeat expansion: further observations on their oligogenic nature. Journal of Neurology 264:7, pages 1426-1433.
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Hong-Fu Li & Zhi-Ying Wu. (2016) Genotype-phenotype correlations of amyotrophic lateral sclerosis. Translational Neurodegeneration 5:1.
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Ming Zhang, Zhengrui Xi, Mahdi Ghani, Peixin Jia, Mrinal Pal, Karolina Werynska, Danielle Moreno, Christine Sato, Yan Liang, Janice Robertson, Arturas Petronis, Lorne Zinman & Ekaterina Rogaeva. (2016) Genetic and epigenetic study of ALS-discordant identical twins with double mutations in SOD1 and ARHGEF28 . Journal of Neurology, Neurosurgery & Psychiatry 87:11, pages 1268-1270.
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Elena Pasini, Dario de BiaseMichela Visani, Luca Morandi, Francesca Danesi, Elisa Boschetti, Vitaliano Tugnoli, Fabrizio Salvi, Alessandra Bordoni & Annalisa Pession. (2012) Activity of the novel T137A SOD1 mutation in amyotrophic lateral sclerosis patients . Future Neurology 7:4, pages 499-503.
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