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Amyotrophic Lateral Sclerosis Volume 9, 2008 - Issue 1
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Original Article

The rare G93D mutation causes a slowly progressing lower motor neuron disease

Gabriella Restagno Molecular Diagnosis and Genetic Counselling Unit, Children's Hospital, A.S.O. O.I.R.M.‐S. Anna, Turin
,
Federica Lombardo Molecular Diagnosis and Genetic Counselling Unit, Children's Hospital, A.S.O. O.I.R.M.‐S. Anna, Turin
,
Luca Sbaiz Molecular Diagnosis and Genetic Counselling Unit, Children's Hospital, A.S.O. O.I.R.M.‐S. Anna, Turin
,
Cristina Mari Molecular Diagnosis and Genetic Counselling Unit, Children's Hospital, A.S.O. O.I.R.M.‐S. Anna, Turin
,
Cinzia Gellera Molecular Genetic Department, ‘Carlo Besta’ National Neurological Institute, IRCCS, Milan
,
Dario Alimonti Department of Neurorehabilitation, ‘Salvatore Maugeri’ Foundation, IRCCS, Pavia
,
Andrea Calvo ALS Centre, Department of Neuroscience, University of Turin, Turin, Italy
,
Luisella Tarenzi ALS Centre, Department of Neuroscience, University of Turin, Turin, Italy
&
Adriano Chiò ALS Centre, Department of Neuroscience, University of Turin, Turin, ItalyCorrespondence[email protected]
 show all
Pages 35-39 | Received 13 Jun 2007, Accepted 22 Oct 2007, Published online: 10 Jul 2009

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Yanran Li, Bo Sun, Siyu Chen, Yuting Ren, Fang Cui, Fei Yang, Zhaohui Chen, Li Ling & Xusheng Huang. (2018) A novel D90_K91insN mutation in exon 4 of the SOD1 gene caused familial amyotrophic lateral sclerosis in a Chinese pedigree. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 19:7-8, pages 516-521.
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Fabio Coppedè, Andrea Stoccoro, Lorena Mosca, Roberta Gallo, Claudia Tarlarini, Christian Lunetta, Alessandro Marocchi, Lucia Migliore & Silvana Penco. (2018) Increase in DNA methylation in patients with amyotrophic lateral sclerosis carriers of not fully penetrant SOD1 mutations. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 19:1-2, pages 93-101.
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Fusun Baumann, Stephen E. Rose, Garth A. Nicholson, Nicole Hutchinson, Kerstin Pannek, Anthony Pettitt, Pamela A. Mccombe & Robert D. Henderson. (2010) Biomarkers of disease in a case of familial lower motor neuron ALS. Amyotrophic Lateral Sclerosis 11:5, pages 486-489.
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Marco Luigetti, Francesca Madia, Amelia Conte, Giuseppe Marangi, Marcella Zollino, Alessandra Del Grande, Michele Dileone, Pietro Attilio Tonali & Mario Sabatelli. (2009) SOD1 G93D mutation presenting as paucisymptomatic amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis 10:5-6, pages 479-482.
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Articles from other publishers (11)

David S. Younger. 2023. Motor System Disorders, Part II: Spinal Cord, Neurodegenerative, and Cerebral Disorders and Treatment. Motor System Disorders, Part II: Spinal Cord, Neurodegenerative, and Cerebral Disorders and Treatment 3 42 .
Serena Lattante & Mario Sabatelli. 2021. Spectrums of Amyotrophic Lateral Sclerosis. Spectrums of Amyotrophic Lateral Sclerosis 1 16 .
Arianna Carolina Rosa, Daniele Corsi, Niccolò Cavi, Natascia Bruni & Franco Dosio. (2021) Superoxide Dismutase Administration: A Review of Proposed Human Uses. Molecules 26:7, pages 1844.
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Matthew Nolan, Connor Scott, Menuka Pallebage Gamarallage, Daniel Lunn, Kilda Carpenter, Elizabeth McDonough, Dan Meyer, Sireesha Kaanumalle, Alberto Santamaria-Pang, Martin R. Turner, Kevin Talbot & Olaf Ansorge. (2020) Quantitative patterns of motor cortex proteinopathy across ALS genotypes. Acta Neuropathologica Communications 8:1.
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Teerin Liewluck & David S. Saperstein. (2015) Progressive Muscular Atrophy. Neurologic Clinics 33:4, pages 761-773.
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Ilaria Bicchi, Carla Emiliani, Angelo Vescovi & Sabata Martino. (2015) The Big Bluff of Amyotrophic Lateral Sclerosis Diagnosis: The Role of Neurodegenerative Disease Mimics. Neurodegenerative Diseases 15:6, pages 313-321.
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C. Lunetta, V. A. Sansone, S. Penco, L. Mosca, C. Tarlarini, F. Avemaria, E. Maestri, M. G. Melazzini, G. Meola & M. Corbo. (2014) Amyotrophic lateral sclerosis in pregnancy is associated with a vascular endothelial growth factor promoter genotype. European Journal of Neurology 21:4, pages 594-598.
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Marka van Blitterswijk, Lotte Vlam, Michael A. van Es, W-Ludo van der Pol, Eric A. M. Hennekam, Dennis Dooijes, Helenius J. Schelhaas, Anneke J. van der Kooi, Marianne de Visser, Jan H. Veldink & Leonard H. van den Berg. (2012) Genetic Overlap between Apparently Sporadic Motor Neuron Diseases. PLoS ONE 7:11, pages e48983.
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Marco Luigetti, Serena Lattante, Marcella Zollino, Amelia Conte, Giuseppe Marangi, Alessandra Del Grande & Mario Sabatelli. (2011) SOD1 G93D sporadic amyotrophic lateral sclerosis (SALS) patient with rapid progression and concomitant novel ANG variant. Neurobiology of Aging 32:10, pages 1924.e15-1924.e18.
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Silvana Penco, Christian Lunetta, Lorena Mosca, Eleonora Maestri, Francesca Avemaria, Claudia Tarlarini, Maria Cristina Patrosso, Alessandro Marocchi & Massimo Corbo. (2010) Phenotypic Heterogeneity in a SOD1 G93D Italian ALS Family: An Example of Human Model to Study a Complex Disease. Journal of Molecular Neuroscience 44:1, pages 25-30.
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Lewis P. Rowland. (2010) Progressive muscular atrophy and other lower motor neuron syndromes of adults. Muscle & Nerve 41:2, pages 161-165.
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