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Amyotrophic Lateral Sclerosis Volume 6, 2005 - Issue 1
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Original Article

The IVS1 +319 t>a of SOD1 gene is not an ALS causing mutation

G. Restagno S.C. Genetica Molecolare, Dipartimento di Patologia Clinica, A.O. O.I.R.M.-S.Anna, Torino, ItalyCorrespondence[email protected]
,
A. Gomez SCDU Neurologia II, Dipartimento di Neuroscienze, Università di Torino, Italy
,
F. Lombardo S.C. Genetica Molecolare, Dipartimento di Patologia Clinica, A.O. O.I.R.M.-S.Anna, Torino, Italy
,
E. Cocco SCDU Neurologia II, Dipartimento di Neuroscienze, Università di Torino, Italy
,
A. Calvo S.C. Genetica Molecolare, Dipartimento di Patologia Clinica, A.O. O.I.R.M.-S.Anna, Torino, Italy
,
P. Ghiglione SCDU Neurologia II, Dipartimento di Neuroscienze, Università di Torino, Italy
,
R. Mutani S.C. Genetica Molecolare, Dipartimento di Patologia Clinica, A.O. O.I.R.M.-S.Anna, Torino, Italy
&
A. Chiò SCDU Neurologia II, Dipartimento di Neuroscienze, Università di Torino, Italy
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Pages 45-49 | Received 22 Jul 2004, Accepted 01 Dec 2004, Published online: 20 Apr 2012

Citations (9)

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Andrea Calvo, Antonio Ilardi, Cristina Moglia, Antonio Canosa, Giovanna Carrara, Consuelo Valentini, Irene Ossola, Maura Brunetti, Gabriella Restagno & Adriano Chiò. (2012) An ALS case with a novel D90N-SOD1 heterozygous missense mutation. Amyotrophic Lateral Sclerosis 13:4, pages 393-395.
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Natasha Luquin, Bing Yu, Ronald J. Trent & Roger Pamphlett. (2010) DHPLC can be used to detect low-level mutations in amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis 11:1-2, pages 76-82.
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Articles from other publishers (7)

Masanori Sawamura, Keiko Imamura, Rie Hikawa, Takako Enami, Ayako Nagahashi, Hodaka Yamakado, Hidenori Ichijo, Takao Fujisawa, Hirofumi Yamashita, Sumio Minamiyama, Misako Kaido, Hiromi Wada, Makoto Urushitani, Haruhisa Inoue, Naohiro Egawa & Ryosuke Takahashi. (2022) Cellular analysis of SOD1 protein-aggregation propensity and toxicity: a case of ALS with slow progression harboring homozygous SOD1-D92G mutation. Scientific Reports 12:1.
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P. Corcia, H. Blasco, G. Besson, J.‐P. Camdessanché, V. Pautot, S. Beltran, P. Couratier, C. Andres, W. Camu & P. Vourc'h. (2017) SOD 1 mutation can mask C9 orf 72 abnormal expansion . European Journal of Neurology 24:4.
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A. Vela, L. Galán, C. Valencia, P. de la Torre, L. Cuadrado, J. Esteban, A. Guerrero, A. García-Redondo & J. Matías-Guiu. (2012) SOD1-N196 mutation in a family with amyotrophic lateral sclerosis. Neurología (English Edition) 27:1, pages 11-15.
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Enrique Syriani, Miguel Morales & Josep Gamez. (2009) The p.E22G mutation in the Cu/Zn superoxide-dismutase gene predicts a long survival time. Journal of the Neurological Sciences 285:1-2, pages 46-53.
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A. ChiòB. J. TraynorF. LombardoM. FimognariA. CalvoP. GhiglioneR. MutaniG. Restagno. (2008) Prevalence of SOD1 mutations in the Italian ALS population . Neurology 70:7, pages 533-537.
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Peter T. Lansbury & Hilal A. Lashuel. (2006) A century-old debate on protein aggregation and neurodegeneration enters the clinic. Nature 443:7113, pages 774-779.
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Peter M. Andersen. (2006) Amyotrophic lateral sclerosis associated with mutations in the CuZn superoxide dismutase gene. Current Neurology and Neuroscience Reports 6:1, pages 37-46.
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