629
Views
197
CrossRef citations to date
0
Altmetric
Original research

Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes

, , , , , , , , , , , , & show all
Pages 62-73 | Received 22 Apr 2003, Accepted 12 May 2003, Published online: 10 Jul 2009

Keep up to date with the latest research on this topic with citation updates for this article.

Read on this site (34)

Ilaria Martinelli, Elisabetta Zucchi, Annalisa Gessani, Nicola Fini, Adriano Chiò, Valentina Pecoraro, Tommaso Trenti & Jessica Mandrioli. (2020) A novel p.N66T mutation in exon 3 of the SOD1 gene: report of two families of ALS patients with early cognitive impairment. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 21:3-4, pages 296-300.
Read now
Dharma Rao Tompa & Saraboji Kadhirvel. (2018) Molecular dynamics of a far positioned SOD1 mutant V14M reveals pathogenic misfolding behavior. Journal of Biomolecular Structure and Dynamics 36:15, pages 4085-4098.
Read now
S. Parakh, E. R. Perri, C. J. Jagaraj, A. M. G. Ragagnin & J. D. Atkin. (2018) Rab-dependent cellular trafficking and amyotrophic lateral sclerosis. Critical Reviews in Biochemistry and Molecular Biology 53:6, pages 623-651.
Read now
Nikolay A. Alemasov, Nikita V. Ivanisenko, Sergey P. Medvedev, Suren M. Zakian, Nikolay A. Kolchanov & Vladimir A. Ivanisenko. (2017) Dynamic properties of SOD1 mutants can predict survival time of patients carrying familial amyotrophic lateral sclerosis. Journal of Biomolecular Structure and Dynamics 35:3, pages 645-656.
Read now
Abhishek Vats, Mandaville Gourie-Devi, Meenakshi Verma, Srinivasan Ramachandran, Bhupesh Taneja, Ritushree Kukreti & Vibha Taneja. (2016) Identification of L84F mutation with a novel nucleotide change c.255G > T in the superoxide dismutase gene in a North Indian family with amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 17:3-4, pages 253-259.
Read now
Leslie I Grad & Neil R Cashman. (2014) Prion-like activity of Cu/Zn superoxide dismutase. Prion 8:1, pages 33-41.
Read now
Dale J. Lange, Peter M. Andersen, Rahul Remanan, Stefan Marklund & Daniel Benjamin. (2013) Pyrimethamine decreases levels of SOD1 in leukocytes and cerebrospinal fluid of ALS patients: A phase I pilot study. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 14:3, pages 199-204.
Read now
Jeffrey A. Brown, Jionghong Min, John F. Staropoli, Elisa Collin, Stephen Bi, Xin Feng, Rosemary Barone, Yi Cao, Lei O'malley, Winnie Xin, Thomas E. Mullen & Katherine B. Sims. (2012) SOD1, ANG, TARDBP and FUS mutations in amyotrophic lateral sclerosis: A United States clinical testing lab experience. Amyotrophic Lateral Sclerosis 13:2, pages 217-222.
Read now
Dušan Keckarević, Zorica Stević, Milica Keckarević-Marković, Miljana Kecmanović & Stanka Romac. (2012) A novel P66S mutation in exon 3 of the SOD1 gene with early onset and rapid progression. Amyotrophic Lateral Sclerosis 13:2, pages 237-240.
Read now
Paola Origone, Claudia Caponnetto, Vittorio Mantero, Elena Cichero, Paola Fossa, Alessandro Geroldi, Simonetta Verdiani, Emilia Bellone, Gianluigi Mancardi & Paola Mandich. (2012) Fast course ALS presenting with vocal cord paralysis: Clinical features, bioinformatic and modelling analysis of the novel SOD1 Gly147Ser mutation. Amyotrophic Lateral Sclerosis 13:1, pages 144-148.
Read now
Will C. Guest, J. Maxwell Silverman, Edward Pokrishevsky, Megan A. O'Neill, Leslie I. Grad & Neil R. Cashman. (2011) Generalization of the Prion Hypothesis to Other Neurodegenerative Diseases: An Imperfect Fit. Journal of Toxicology and Environmental Health, Part A 74:22-24, pages 1433-1459.
Read now
Michela Visani, Dario de Biase, Ilaria Bartolomei, Rosaria Plasmati, Luca Morandi, Giovanna Cenacchi, Fabrizio Salvi & Annalisa Pession. (2011) A novel T137A SOD1 mutation in an Italian family with two subjects affected by amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis 12:5, pages 385-388.
Read now
Andreas Hermann, Ulrike Reuner, Georg Ziethe, Andreas Bräuer, Uta Gölnitz, Arndt Rolfs & Claudia Ricci. (2011) Vocal cord paralysis and rapid progressive motor neuron disease by the I113F mutation in SOD1 gene. Amyotrophic Lateral Sclerosis 12:5, pages 382-384.
Read now
Alessandra del Grande, Marco Luigetti, Amelia Conte, Irene Mancuso, Serena Lattante, Giuseppe Marangi, Giuseppe Stipa, Marcella Zollino & Mario Sabatelli. (2011) A novel L67P SOD1 mutation in an Italian ALS patient. Amyotrophic Lateral Sclerosis 12:2, pages 150-152.
Read now
Daniel J. Amante, Jinho Kim, Samantha T. Carreiro, Andrew C. Cooper, Steven W. Jones, Ting Li, Jennifer P. Moody, Christina K. Edgerly, Olivia L. Bordiuk, Kerry Cormier, Karen Smith, Robert J. Ferrante & James Rusche. (2010) Uridine ameliorates the pathological phenotype in transgenic G93A-ALS mice. Amyotrophic Lateral Sclerosis 11:6, pages 520-530.
Read now
Trygve Holmøy, John A. Wilson, Charlotte von der Lippe, Peter M. Andersen & Pål Berg-Hansen. (2010) G127R: A novel SOD1 mutation associated with rapidly evolving ALS and severe pain syndrome. Amyotrophic Lateral Sclerosis 11:5, pages 478-480.
Read now
Sergiu C. Blumen, Rivka Inzelberg, Puiu Nisipeanu, Ralph L. Carasso, Daniel Oved, Orna Aizenstein, Vivian E. Drory, Christina Bergstrom & Peter M. Andersen. (2010) Aggressive familial ALS with unusual brain MRI and a SOD1 gene mutation. Amyotrophic Lateral Sclerosis 11:1-2, pages 228-231.
Read now
Fabio Giannini, Stefania Battistini, Michelangelo Mancuso, Giuseppe Greco, Claudia Ricci, Nila Volpi, Alberto Del Corona, Selina Piazza & Gabriele Siciliano. (2010) D90A-SOD1 mutation in ALS: The first report of heterozygous Italian patients and unusual findings. Amyotrophic Lateral Sclerosis 11:1-2, pages 216-219.
Read now
Ceryl A. Harwood, Christopher J. McDermott & Pamela J. Shaw. (2009) Physical activity as an exogenous risk factor in motor neuron disease (MND): A review of the evidence. Amyotrophic Lateral Sclerosis 10:4, pages 191-204.
Read now
Steven J. Del Signore, Daniel J. Amante, Jinho Kim, Edward C. Stack, Sarah Goodrich, Kerry Cormier, Karen Smith, Merit E. Cudkowicz & Robert J. Ferrante. (2009) Combined riluzole and sodium phenylbutyrate therapy in transgenic amyotrophic lateral sclerosis mice. Amyotrophic Lateral Sclerosis 10:2, pages 85-94.
Read now
Anna Nordlund & Mikael Oliveberg. (2008) SOD1‐associated ALS: A promising system for elucidating the origin of protein‐misfolding disease. HFSP Journal 2:6, pages 354-364.
Read now
Andrew Eisen, Michelle M. Mezei, Heather G. Stewart, Marife Fabros, Gillan Gibson & Peter M. Andersen. (2008) SOD1 gene mutations in ALS patients from British Columbia, Canada: Clinical features, neurophysiology and ethical issues in management. Amyotrophic Lateral Sclerosis 9:2, pages 108-119.
Read now
Gabriella Restagno, Federica Lombardo, Luca Sbaiz, Cristina Mari, Cinzia Gellera, Dario Alimonti, Andrea Calvo, Luisella Tarenzi & Adriano Chiò. (2008) The rare G93D mutation causes a slowly progressing lower motor neuron disease. Amyotrophic Lateral Sclerosis 9:1, pages 35-39.
Read now
Peter Munch Andersen, Gian Domenico Borasio, Reinhard Dengler, Orla Hardiman, Katja Kollewe, Peter Nigel Leigh, Pierre‐Francois Pradat, Vincenzo Silani & Barbara Tomik. (2007) Good practice in the management of amyotrophic lateral sclerosis: Clinical guidelines. An evidence‐based review with good practice points. EALSC Working Group. Amyotrophic Lateral Sclerosis 8:4, pages 195-213.
Read now
Hyun Young Kim, Chang‐Seok Ki, Seong‐Ho Koh, Kee‐Hyung Park, Il‐Nam Sunwoo & Seung H. Kim. (2007) Clinical characteristics of familial amyotrophic lateral sclerosis with a Phe20Cys mutation in the SOD1 gene in a Korean family. Amyotrophic Lateral Sclerosis 8:2, pages 73-78.
Read now
Masatoshi Suzuki, Craig Tork, Brandon Shelley, Jacalyn Mchugh, Kyle Wallace, Sandra M. Klein, Mary J. Lindstrom & Clive N. Svendsen. (2007) Sexual dimorphism in disease onset and progression of a rat model of ALS. Amyotrophic Lateral Sclerosis 8:1, pages 20-25.
Read now
N. T. T. Thuong, S. J. Dunstan, N. M. Dung, J.-P. Charlieu, H. T. Loan, B. Wills, T. Solomon & J. J. Farrar. (2006) Polymorphisms of the gene coding for copper/zinc superoxide dismutase (SOD1) in patients with Japanese encephalitis. Annals of Tropical Medicine & Parasitology 100:7, pages 631-636.
Read now
Gardian C. Y. Fong, Ken H. H. Kwok, Y. Q. Song, T. S. Cheng, Philip W. L. Ho, Andrew C. Y. Chu, Michelle H. W. Kung, K. H. Chan, Windsor Mak, Raymond T. F. Cheung, David B. Ramsden & S. L. Ho. (2006) Clinical phenotypes of a large Chinese multigenerational kindred with autosomal dominant familial ALS due to Ile149Thr SOD1 gene mutation. Amyotrophic Lateral Sclerosis 7:3, pages 142-149.
Read now
Yingshuang Zhang, Huagang Zhang, Yu Fu, Hongsong Song, Liping Wang, Jun Zhang & Dongsheng Fan. (2006) VEGF C2578A polymorphism does not contribute to amyotrophic lateral sclerosis susceptibility in sporadic Chinese patients. Amyotrophic Lateral Sclerosis 7:2, pages 119-122.
Read now
M. D. Weiss, J. M. Ravits, N. Schuman & G. T. Carter. (2006) A4V superoxide dismutase mutation in apparently sporadic ALS resembling neuralgic amyotrophy. Amyotrophic Lateral Sclerosis 7:1, pages 61-63.
Read now
G. Restagno, A. Gomez, F. Lombardo, E. Cocco, A. Calvo, P. Ghiglione, R. Mutani & A. Chiò. (2005) The IVS1 +319 t>a of SOD1 gene is not an ALS causing mutation. Amyotrophic Lateral Sclerosis 6:1, pages 45-49.
Read now
. (2005) THEME 2 Genetics and Epidemiology. Amyotrophic Lateral Sclerosis 6:sup1, pages 75-90.
Read now
Huagang Zhang, Hongshan Zhao, Ming Lu, Yingshuang Zhang, Liping Wang, Jun Zhang, Dalon Ma & Dongsheng Fan. (2005) A rare Cu/Zn superoxide dismutase mutation causing familial amyotrophic lateral sclerosis with variable age of onset and incomplete penetrance in China. Amyotrophic Lateral Sclerosis 6:4, pages 234-238.
Read now
Tessa Gordon, Janka Hegedus & Siu Lin Tam. (2004) Adaptive and maladaptive motor axonal sprouting in aging and motoneuron disease. Neurological Research 26:2, pages 174-185.
Read now

Articles from other publishers (163)

Ilaria Martinelli, Andrea Ghezzi, Elisabetta Zucchi, Giulia Gianferrari, Laura Ferri, Cristina Moglia, Umberto Manera, Luca Solero, Rosario Vasta, Antonio Canosa, Maurizio Grassano, Maura Brunetti, Letizia Mazzini, Fabiola De Marchi, Cecilia Simonini, Nicola Fini, Marco Vinceti, Marcello Pinti, Adriano Chiò, Andrea Calvo & Jessica Mandrioli. (2023) Predictors for progression in amyotrophic lateral sclerosis associated to SOD1 mutation: insight from two population-based registries. Journal of Neurology 270:12, pages 6081-6092.
Crossref
Bi Zhao, Qirui Jiang, Junyu Lin, Qianqian Wei, Chunyu Li, Yanbing Hou, Bei Cao, Lingyu Zhang, Ruwei Ou, Kuncheng Liu, Tianmi Yang, Yi Xiao & Huifang Shang. (2023) TBK1 variants in Chinese patients with amyotrophic lateral sclerosis: Genetic analysis and clinical features . European Journal of Neurology 30:10, pages 3079-3089.
Crossref
Kee-Shin Sim & Tsuyoshi Inoue. (2023) Structure of a superoxide dismutase from a tardigrade: Ramazzottius varieornatus strain YOKOZUNA-1 . Acta Crystallographica Section F Structural Biology Communications 79:7, pages 169-179.
Crossref
Karin M. Forsberg, Karin S. Graffmo, Erica Stenvall, Naima Tabikh, Stefan L. Marklund, Thomas Brännström & Peter M. Andersen. (2022) Widespread CNS pathology in amyotrophic lateral sclerosis homozygous for the D90A SOD1 mutation. Acta Neuropathologica 145:1, pages 13-28.
Crossref
Juliana Acosta-Uribe, David Aguillón, J. Nicholas Cochran, Margarita Giraldo, Lucía Madrigal, Bradley W. Killingsworth, Rijul Singhal, Sarah Labib, Diana Alzate, Lina Velilla, Sonia Moreno, Gloria P. García, Amanda Saldarriaga, Francisco Piedrahita, Liliana Hincapié, Hugo E. López, Nithesh Perumal, Leonilde Morelo, Dionis Vallejo, Juan Marcos Solano, Eric M. Reiman, Ezequiel I. Surace, Tatiana Itzcovich, Ricardo Allegri, Raquel Sánchez-Valle, Andrés Villegas-Lanau, Charles L. WhiteIIIIII, Diana Matallana, Richard M. Myers, Sharon R. Browning, Francisco Lopera & Kenneth S. Kosik. (2022) A neurodegenerative disease landscape of rare mutations in Colombia due to founder effects. Genome Medicine 14:1.
Crossref
Rishabh Chaudhary, Vipul Agarwal, Mujeeba Rehman, Arjun Singh Kaushik & Vikas Mishra. (2022) Genetic architecture of motor neuron diseases. Journal of the Neurological Sciences 434, pages 120099.
Crossref
Kathrin Müller, Ki-Wook Oh, Angelica Nordin, Sudhan Panthi, Seung Hyun Kim, Frida Nordin, Axel Freischmidt, Albert C Ludolph, Chang Seok Ki, Karin Forsberg, Jochen Weishaupt, Young-Eun Kim & Peter Munch Andersen. (2022) De novo mutations in SOD1 are a cause of ALS . Journal of Neurology, Neurosurgery & Psychiatry 93:2, pages 201-206.
Crossref
Xinmei Wen, Wenjia Zhu, Nan L. Xia, Qianwen Li, Li Di, Shu Zhang, Hai Chen, Yan Lu, Min Wang, Min Xu, Suobin Wang, Xin-Ming Shen, Jie Lu & Yuwei Da. (2021) Missense Mutations of Codon 116 in the SOD1 Gene Cause Rapid Progressive Familial ALS and Predict Short Viability With PMA Phenotype. Frontiers in Genetics 12.
Crossref
Claudia Ricci, Fabio Giannini, Giulia Riolo, Silvia Bocci, Stefania Casali & Stefania Battistini. (2021) A Novel Variant in Superoxide Dismutase 1 Gene (p.V119M) in Als Patients with Pure Lower Motor Neuron Presentation. Genes 12:10, pages 1544.
Crossref
Mara Bourbouli, George P. Paraskevas, Mihail Rentzos, Lambros Mathioudakis, Vasiliki Zouvelou, Anastasia Bougea, Athanasios Tychalas, Vasilios K. Kimiskidis, Vasilios Constantinides, Spiros Zafeiris, Minas Tzagournissakis, Georgios Papadimas, Georgia Karadima, Georgios Koutsis, Christos Kroupis, Chrisoula Kartanou, Elisabeth Kapaki & Ioannis Zaganas. (2021) Genotyping and Plasma/Cerebrospinal Fluid Profiling of a Cohort of Frontotemporal Dementia–Amyotrophic Lateral Sclerosis Patients. Brain Sciences 11:9, pages 1239.
Crossref
François Muratet, Elisa Teyssou, Aude Chiot, Séverine Boillée, Christian S Lobsiger, Delphine Bohl, Beata Gyorgy, Justine Guegan, Yannick Marie, Maria del Mar Amador, Francois Salachas, Vincent Meininger, Emilien Bernard, Jean-Christophe Antoine, Jean-Philippe Camdessanché, William Camu, Cécile Cazeneuve, Anne-Laure Fauret-Amsellem, Eric Leguern, Kevin Mouzat, Claire Guissart, Serge Lumbroso, Philippe Corcia, Patrick Vourc'h, Aude-Marie Grapperon, Shahram Attarian, Annie Verschueren, Danielle Seilhean & Stéphanie Millecamps. (2021) Impact of a frequent nearsplice SOD1 variant in amyotrophic lateral sclerosis: optimising SOD1 genetic screening for gene therapy opportunities . Journal of Neurology, Neurosurgery & Psychiatry 92:9, pages 942-949.
Crossref
Julia Post, Anja Schaffrath, Ian Gering, Sonja Hartwig, Stefan Lehr, N. Jon Shah, Karl-Josef Langen, Dieter Willbold, Janine Kutzsche & Antje Willuweit. (2021) Oral Treatment with RD2RD2 Impedes Development of Motoric Phenotype and Delays Symptom Onset in SOD1G93A Transgenic Mice. International Journal of Molecular Sciences 22:13, pages 7066.
Crossref
Carmine Ungaro, Teresa Sprovieri, Giovanna Morello, Benedetta Perrone, Antonio Gianmaria Spampinato, Isabella Laura Simone, Francesca Trojsi, Maria Rosaria Monsurrò, Rossella Spataro, Vincenzo La Bella, Sebastiano Andò, Sebastiano Cavallaro & Francesca Luisa Conforti. (2021) Genetic investigation of amyotrophic lateral sclerosis patients in south Italy: a two-decade analysis. Neurobiology of Aging 99, pages 99.e7-99.e14.
Crossref
Cyril Jones Jagaraj, Sonam Parakh & Julie D. Atkin. (2021) Emerging Evidence Highlighting the Importance of Redox Dysregulation in the Pathogenesis of Amyotrophic Lateral Sclerosis (ALS). Frontiers in Cellular Neuroscience 14.
Crossref
Silvia Silva-Hucha, Angel M. Pastor & Sara Morcuende. (2021) Neuroprotective Effect of Vascular Endothelial Growth Factor on Motoneurons of the Oculomotor System. International Journal of Molecular Sciences 22:2, pages 814.
Crossref
Claire Guissart, Kevin Mouzat, Jovana Kantar, Baptiste Louveau, Paul Vilquin, Anne Polge, Cédric Raoul & Serge Lumbroso. (2020) Premature termination codons in SOD1 causing Amyotrophic Lateral Sclerosis are predicted to escape the nonsense-mediated mRNA decay. Scientific Reports 10:1.
Crossref
Debasish Kumar Ghosh, Abhishek Kumar & Akash Ranjan. (2020) T54R mutation destabilizes the dimer of superoxide dismutase 1 T54R by inducing steric clashes at the dimer interface . RSC Advances 10:18, pages 10776-10788.
Crossref
Sourav Chowdhury, Dwipanjan Sanyal, Sagnik Sen, Vladimir N. Uversky, Ujjwal Maulik & Krishnananda Chattopadhyay. (2019) Evolutionary Analyses of Sequence and Structure Space Unravel the Structural Facets of SOD1. Biomolecules 9:12, pages 826.
Crossref
Cecilia Garcia, Jose Manuel Vidal-Taboada, Enrique Syriani, Maria Salvado, Miguel Morales & Josep Gamez. (2019) Haplotype Analysis of the First A4V-SOD1 Spanish Family: Two Separate Founders or a Single Common Founder?. Frontiers in Genetics 10.
Crossref
Audrey M. G. Ragagnin, Sina Shadfar, Marta Vidal, Md Shafi Jamali & Julie D. Atkin. (2019) Motor Neuron Susceptibility in ALS/FTD. Frontiers in Neuroscience 13.
Crossref
Liina KuuluvainenKarri KaivolaSaana MönkäreHannu LaaksovirtaManu JokelaBjarne UddMiko ValoriPetra PasanenAnders PaetauBryan J. TraynorDavid J. StoneJohanna SchleutkerMinna PöyhönenPentti J. TienariLiisa Myllykangas. (2019) Oligogenic basis of sporadic ALS. Neurology Genetics 5:3.
Crossref
David Czell. (2019) Genetik der amyotrophen Lateralsklerose. Praxis 108:1, pages 37-44.
Crossref
Gareth S. A. Wright, Svetlana V. Antonyuk & S. Samar Hasnain. (2019) The biophysics of superoxide dismutase-1 and amyotrophic lateral sclerosis. Quarterly Reviews of Biophysics 52.
Crossref
Antonio Canosa, Giovanni De Marco, Annarosa Lomartire, Maria Teresa Rinaudo, Ferdinando Di Cunto, Emilia Turco, Marco Barberis, Maura Brunetti, Federico Casale, Cristina Moglia, Andrea Calvo, Stefan L. Marklund, Peter M. Andersen, Gabriele Mora & Adriano Chiò. (2018) A novel p.Ser108LeufsTer15 SOD1 mutation leading to the formation of a premature stop codon in an apparently sporadic ALS patient: insights into the underlying pathomechanisms. Neurobiology of Aging 72, pages 189.e11-189.e17.
Crossref
Kathrin Müller, David Brenner, Patrick Weydt, Thomas Meyer, Torsten Grehl, Susanne Petri, Julian Grosskreutz, Joachim Schuster, Alexander E Volk, Guntram Borck, Christian Kubisch, Thomas Klopstock, Daniel Zeller, Sibylle Jablonka, Michael Sendtner, Stephan Klebe, Antje Knehr, Kornelia Günther, Joachim Weis, Kristl G Claeys, Berthold Schrank, Anne-Dorte Sperfeld, Annemarie Hübers, Markus Otto, Johannes Dorst, Thomas Meitinger, Tim M Strom, Peter M Andersen, Albert C Ludolph & Jochen H Weishaupt. (2018) Comprehensive analysis of the mutation spectrum in 301 German ALS families. Journal of Neurology, Neurosurgery & Psychiatry 89:8, pages 817-827.
Crossref
Anne Vejux, Amira Namsi, Thomas Nury, Thibault Moreau & Gérard Lizard. (2018) Biomarkers of Amyotrophic Lateral Sclerosis: Current Status and Interest of Oxysterols and Phytosterols. Frontiers in Molecular Neuroscience 11.
Crossref
Hiroya Naruse, Hiroyuki Ishiura, Jun Mitsui, Hidetoshi Date, Yuji Takahashi, Takashi Matsukawa, Masaki Tanaka, Akiko Ishii, Akira Tamaoka, Keiichi Hokkoku, Masahiro Sonoo, Mari Segawa, Yoshikazu Ugawa, Koichiro Doi, Jun Yoshimura, Shinichi Morishita, Jun Goto & Shoji Tsuji. (2018) Molecular epidemiological study of familial amyotrophic lateral sclerosis in Japanese population by whole-exome sequencing and identification of novel HNRNPA1 mutation. Neurobiology of Aging 61, pages 255.e9-255.e16.
Crossref
Stephen A. Goutman, Kevin S. Chen, Ximena Paez-Colasante & Eva L. Feldman. 2018. Neurogenetics, Part II. Neurogenetics, Part II 603 623 .
Nicola Ticozzi & Vincenzo Silani. 2018. Neurodegenerative Diseases. Neurodegenerative Diseases 279 295 .
Salah Abu-Hamad, Joy Kahn, Marcel F. Leyton-Jaimes, Jonathan Rosenblatt & Adrian Israelson. (2017) Misfolded SOD1 Accumulation and Mitochondrial Association Contribute to the Selective Vulnerability of Motor Neurons in Familial ALS: Correlation to Human Disease. ACS Chemical Neuroscience 8:10, pages 2225-2234.
Crossref
Ju-Hwang Park, Hae Rim Jang, In Young Lee, Hye Kyung Oh, Eui-Ju Choi, Hyangshuk Rhim & Seongman Kang. (2017) Amyotrophic lateral sclerosis-related mutant superoxide dismutase 1 aggregates inhibit 14-3-3-mediated cell survival by sequestration into the JUNQ compartment. Human Molecular Genetics 26:18, pages 3615-3629.
Crossref
Hamideh Shahheydari, Audrey Ragagnin, Adam K. Walker, Reka P. Toth, Marta Vidal, Cyril J. Jagaraj, Emma R. Perri, Anna Konopka, Jessica M. Sultana & Julie D. Atkin. (2017) Protein Quality Control and the Amyotrophic Lateral Sclerosis/Frontotemporal Dementia Continuum. Frontiers in Molecular Neuroscience 10.
Crossref
QianQian Wei, QingQing Zhou, YongPing Chen, RuWei Ou, Bei Cao, YaQian Xu, Jing Yang & Hui-Fang Shang. (2017) Analysis of SOD1 mutations in a Chinese population with amyotrophic lateral sclerosis: a case-control study and literature review. Scientific Reports 7:1.
Crossref
Taha Bali, Wade Self, Jingxia Liu, Teepu Siddique, Leo H Wang, Thomas D Bird, Elena Ratti, Nazem Atassi, Kevin B Boylan, Jonathan D Glass, Nicholas J Maragakis, James B Caress, Leo F McCluskey, Stanley H Appel, James P Wymer, Summer Gibson, Lorne Zinman, Tahseen Mozaffar, Brian Callaghan, April L McVey, Jennifer Jockel-Balsarotti, Peggy Allred, Elena R Fisher, Glenn Lopate, Alan Pestronk, Merit E Cudkowicz & Timothy M Miller. (2017) Defining SOD1 ALS natural history to guide therapeutic clinical trial design. Journal of Neurology, Neurosurgery & Psychiatry 88:2, pages 99-105.
Crossref
K.P. Kenna, J.E. Landers & N. Ticozzi. 2017. Molecular and Cellular Therapies for Motor Neuron Diseases. Molecular and Cellular Therapies for Motor Neuron Diseases 43 59 .
Lucas T. Vu & Robert Bowser. (2016) Fluid-Based Biomarkers for Amyotrophic Lateral Sclerosis. Neurotherapeutics 14:1, pages 119-134.
Crossref
Ju-Hwang Park, Hang-Soo Park, Sunghoi Hong & Seongman Kang. (2016) Motor neurons derived from ALS-related mouse iPS cells recapitulate pathological features of ALS. Experimental & Molecular Medicine 48:12, pages e276-e276.
Crossref
Lihua Hou, Bin Jiao, Tingting Xiao, Lu Zhou, Zhifan Zhou, Juan Du, Xinxiang Yan, Junling Wang, Beisha Tang & Lu Shen. (2016) Screening of SOD1, FUS and TARDBP genes in patients with amyotrophic lateral sclerosis in central-southern China. Scientific Reports 6:1.
Crossref
Jared R. Williams, Emiliano Trias, Pamela R. Beilby, Nathan I. Lopez, Edwin M. Labut, C. Samuel Bradford, Blaine R. Roberts, Erin J. McAllum, Peter J. Crouch, Timothy W. Rhoads, Cliff Pereira, Marjatta Son, Jeffrey L. Elliott, Maria Clara Franco, Alvaro G. Estévez, Luis Barbeito & Joseph S. Beckman. (2016) Copper delivery to the CNS by CuATSM effectively treats motor neuron disease in SODG93A mice co-expressing the Copper-Chaperone-for-SOD. Neurobiology of Disease 89, pages 1-9.
Crossref
Isil Keskin, Elin Forsgren, Dale J. Lange, Markus Weber, Anna Birve, Matthis Synofzik, Jonathan D. Gilthorpe, Peter M. Andersen & Stefan L. Marklund. (2016) Effects of Cellular Pathway Disturbances on Misfolded Superoxide Dismutase-1 in Fibroblasts Derived from ALS Patients. PLOS ONE 11:2, pages e0150133.
Crossref
J. B. Hilton, A. R. White & P. J. Crouch. (2016) Endogenous Cu in the central nervous system fails to satiate the elevated requirement for Cu in a mutant SOD1 mouse model of ALS. Metallomics 8:9, pages 1002-1011.
Crossref
Masataka Nakamura, Kevin F. Bieniek, Wen-Lang Lin, Neill R. Graff-Radford, Melissa E. Murray, Monica Castanedes-Casey, Pamela Desaro, Matthew C. Baker, Nicola J. Rutherford, Janice Robertson, Rosa Rademakers, Dennis W. Dickson & Kevin B. Boylan. (2015) A truncating SOD1 mutation, p.Gly141X, is associated with clinical and pathologic heterogeneity, including frontotemporal lobar degeneration. Acta Neuropathologica 130:1, pages 145-157.
Crossref
Leslie I. Grad, Sarah M. Fernando & Neil R. Cashman. (2015) From molecule to molecule and cell to cell: Prion-like mechanisms in amyotrophic lateral sclerosis. Neurobiology of Disease 77, pages 257-265.
Crossref
S. P. Keerthana & P. Kolandaivel. (2015) Interaction between dimer interface residues of native and mutated SOD1 protein: a theoretical study. JBIC Journal of Biological Inorganic Chemistry 20:3, pages 509-522.
Crossref
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.
Crossref
Marianna Marino, Simonetta Papa, Valeria Crippa, Giovanni Nardo, Marco Peviani, Cristina Cheroni, Maria Chiara Trolese, Eliana Lauranzano, Valentina Bonetto, Angelo Poletti, Silvia DeBiasi, Laura Ferraiuolo, Pamela J. Shaw & Caterina Bendotti. (2015) Differences in protein quality control correlate with phenotype variability in 2 mouse models of familial amyotrophic lateral sclerosis. Neurobiology of Aging 36:1, pages 492-504.
Crossref
Antonio Canosa, Andrea Calvo, Cristina Moglia, Barbara Iazzolino, Maura Brunetti, Gabriella Restagno, Angelina Cistaro, Piercarlo Fania, Giovanna Carrara, Maria Consuelo Valentini, Raffaella Tanel & Adriano Chiò. (2014) A familial ALS case carrying a novel p.G147C SOD1 heterozygous missense mutation with non-executive cognitive impairment: Figure 1 . Journal of Neurology, Neurosurgery & Psychiatry 85:12, pages 1437-1439.
Crossref
Zhi-Jun Liu, Hong-Fu Li, Guo-He Tan, Qing-Qing Tao, Wang Ni, Xue-Wen Cheng, Zhi-Qi Xiong & Zhi-Ying Wu. (2014) Identify mutation in amyotrophic lateral sclerosis cases using HaloPlex target enrichment system. Neurobiology of Aging 35:12, pages 2881.e11-2881.e15.
Crossref
Vahid M. Harandi, Susanne Lindquist, Shrikant Shantilal Kolan, Thomas Brännström & Jing-Xia Liu. (2014) Analysis of Neurotrophic Factors in Limb and Extraocular Muscles of Mouse Model of Amyotrophic Lateral Sclerosis. PLoS ONE 9:10, pages e109833.
Crossref
Elizabeth C. M. de Lange. 2014. Drug Delivery to the Brain. Drug Delivery to the Brain 591 634 .
Steve Vucic & Matthew C. Kiernan. 2014. Handbook of Neurotoxicity. Handbook of Neurotoxicity 1435 1456 .
Nicola Ticozzi & Vincenzo Silani. 2014. Neurodegenerative Diseases. Neurodegenerative Diseases 179 192 .
L. Di Vito, D. de Biase, A. Pession, M. Visani, R. Liguori, S. Zambito Marsala, V. Leta, P. De Carolis & V. Donadio. (2013) Brachial amyotrophic diplegia associated with the a140a superoxide dismutase 1 mutation. neurogenetics 14:3-4, pages 255-256.
Crossref
Katie Richardson, Scott P. Allen, Heather Mortiboys, Andrew J. Grierson, Stephen B. Wharton, Paul G. Ince, Pamela J. Shaw & Paul R. Heath. (2013) The Effect of SOD1 Mutation on Cellular Bioenergetic Profile and Viability in Response to Oxidative Stress and Influence of Mutation-Type. PLoS ONE 8:6, pages e68256.
Crossref
Per Zetterström, Karin S. Graffmo, Peter M. Andersen, Thomas Brännström & Stefan L. Marklund. (2012) Composition of Soluble Misfolded Superoxide Dismutase-1 in Murine Models of Amyotrophic Lateral Sclerosis. NeuroMolecular Medicine 15:1, pages 147-158.
Crossref
Serena LattanteAmelia ConteMarcella ZollinoMarco LuigettiAlessandra Del GrandeGiuseppe MarangiAngela RomanoAlessandro MarcaccioEmiliana MeleoGiulia BisogniPaolo Maria RossiniMario Sabatelli. (2012) Contribution of major amyotrophic lateral sclerosis genes to the etiology of sporadic disease. Neurology 79:1, pages 66-72.
Crossref
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.
Crossref
Tim Harder, Mikael Borg, Sandro Bottaro, Wouter Boomsma, Simon Olsson, Jesper Ferkinghoff-Borg & Thomas Hamelryck. (2012) An Efficient Null Model for Conformational Fluctuations in Proteins. Structure 20:6, pages 1028-1039.
Crossref
Min-Jung Kwon, Wonki Baek, Chang-Seok Ki, Hyun Young Kim, Seong-Ho Koh, Jong-Won Kim & Seung Hyun Kim. (2012) Screening of the SOD1, FUS, TARDBP, ANG, and OPTN mutations in Korean patients with familial and sporadic ALS. Neurobiology of Aging 33:5, pages 1017.e17-1017.e23.
Crossref
Xueping Chen, Huifang Shang, Xiaozhong Qiu, Noriko Fujiwara, Liying Cui, Xin-Min Li, Tian-Ming Gao & Jiming Kong. (2012) Oxidative Modification of Cysteine 111 Promotes Disulfide Bond-Independent Aggregation of SOD1. Neurochemical Research 37:4, pages 835-845.
Crossref
Peter M. Andersen, Sharon Abrahams, Gian D. Borasio, Mamede de Carvalho, Adriano Chio, Philip Van Damme, Orla Hardiman, Katja Kollewe, Karen E. Morrison, Susanne Petri, Pierre‐Francois Pradat, Vincenzo Silani, Barbara Tomik, Maria Wasner & Markus Weber. (2011) EFNS guidelines on the Clinical Management of Amyotrophic Lateral Sclerosis (MALS) – revised report of an EFNS task force. European Journal of Neurology 19:3, pages 360-375.
Crossref
Véronique V. Belzil & Guy A. Rouleau. (2014) SOD1 Mutations: More to Learn. Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 39:2, pages 132-133.
Crossref
Anna Wuolikainen, Peter M. Andersen, Thomas Moritz, Stefan L. Marklund & Henrik Antti. (2012) ALS patients with mutations in the SOD1 gene have an unique metabolomic profile in the cerebrospinal fluid compared with ALS patients without mutations. Molecular Genetics and Metabolism 105:3, pages 472-478.
Crossref
Tian Chen, Radhia Benmohamed, Jinho Kim, Karen Smith, Daniel Amante, Richard I. Morimoto, Donald R. Kirsch, Robert J. Ferrante & Richard B. Silverman. (2011) ADME-Guided Design and Synthesis of Aryloxanyl Pyrazolone Derivatives To Block Mutant Superoxide Dismutase 1 (SOD1) Cytotoxicity and Protein Aggregation: Potential Application for the Treatment of Amyotrophic Lateral Sclerosis. Journal of Medicinal Chemistry 55:1, pages 515-527.
Crossref
Peter M. Andersen & Ammar Al-Chalabi. (2011) Clinical genetics of amyotrophic lateral sclerosis: what do we really know?. Nature Reviews Neurology 7:11, pages 603-615.
Crossref
James E. Klaunig, Zemin Wang, Xinzhu Pu & Shaoyu Zhou. (2011) Oxidative stress and oxidative damage in chemical carcinogenesis. Toxicology and Applied Pharmacology 254:2, pages 86-99.
Crossref
J. WeisI. KatonaG. Müller-NewenC. SommerG. NeculaC. HendrichA.C. LudolphA.-D. Sperfeld. (2011) Small-fiber neuropathy in patients with ALS. Neurology 76:23, pages 2024-2029.
Crossref
Vivek Swarup & Jean-Pierre Julien. (2011) ALS pathogenesis: Recent insights from genetics and mouse models. Progress in Neuro-Psychopharmacology and Biological Psychiatry 35:2, pages 363-369.
Crossref
Trygve Holmøy, Øivind Braaten, Inger Hovden & Chantal Tallaksen. (2011) En ung kvinne som mistet kraften i ett bein. Tidsskrift for Den norske legeforening 131:6, pages 583-586.
Crossref
Alzbeta Trancikova, David Ramonet & Darren J. Moore. 2011. Animal Models of Human Disease. Animal Models of Human Disease 419 482 .
Elena M. Ribe, Lianna Heidt, Nike Beaubier & Carol M. Troy. 2011. Neurochemical Mechanisms in Disease. Neurochemical Mechanisms in Disease 17 47 .
C. F. Meehan, M. Moldovan, S. L. Marklund, K. S. Graffmo, J. B. Nielsen & H. Hultborn. (2010) Intrinsic properties of lumbar motor neurones in the adult G127insTGGG superoxide dismutase‐1 mutant mouse in vivo : evidence for increased persistent inward currents . Acta Physiologica 200:4, pages 361-376.
Crossref
Anna Birve, Christoph Neuwirth, Markus Weber, Stefan L. Marklund, Ann-Charloth Nilsson, Per Andreas Jonsson & Peter M. Andersen. (2010) A novel SOD1 splice site mutation associated with familial ALS revealed by SOD activity analysis. Human Molecular Genetics 19:21, pages 4201-4206.
Crossref
Nils Erik Gilhus, Michael P. Barnes & Michael BraininP. M. Andersen (chairman)S. Abrahams, G. D. Borasio, M. de Carvalho, A. Chio, P. Van Damme, O. Hardiman, K. Kollewe, K. E. Morrison, S. Petri, P. ‐F. Pradat, V. Silani, B. Tomik, M. Wasner & M. Weber. 2010. European Handbook of Neurological Management. European Handbook of Neurological Management 283 310 .
Malessa Rabe, Ansgar Felbecker, Stefan Waibel, Peter Steinbach, Pia Winter & Albert C. Ludolph. (2010) The epidemiology of CuZn-SOD mutations in Germany: a study of 217 families. Journal of Neurology 257:8, pages 1298-1302.
Crossref
Karin Forsberg, P. Andreas Jonsson, Peter M. Andersen, Daniel Bergemalm, Karin S. Graffmo, Magnus Hultdin, Johan Jacobsson, Roland Rosquist, Stefan L. Marklund & Thomas Brännström. (2010) Novel Antibodies Reveal Inclusions Containing Non-Native SOD1 in Sporadic ALS Patients. PLoS ONE 5:7, pages e11552.
Crossref
Daniel Bergemalm, Karin Forsberg, Vaibhav Srivastava, Karin S. Graffmo, Peter M. Andersen, Thomas Brännström, Gunnar Wingsle & Stefan L. Marklund. (2010) Superoxide dismutase-1 and other proteins in inclusions from transgenic amyotrophic lateral sclerosis model mice. Journal of Neurochemistry 114:2, pages 408-418.
Crossref
Duane D. Winkler, Mercedes Prudencio, Celeste Karch, David R. Borchelt & John Hart. 2010. Protein Misfolding Diseases. Protein Misfolding Diseases 381 401 .
Roberth Byström, Peter M. Andersen, Gerhard Gröbner & Mikael Oliveberg. (2010) SOD1 Mutations Targeting Surface Hydrogen Bonds Promote Amyotrophic Lateral Sclerosis without Reducing Apo-state Stability. Journal of Biological Chemistry 285:25, pages 19544-19552.
Crossref
Keith A. Hanson, Sang Hwa Kim, David A. Wassarman & Randal S. Tibbetts. (2010) Ubiquilin Modifies TDP-43 Toxicity in a Drosophila Model of Amyotrophic Lateral Sclerosis (ALS). Journal of Biological Chemistry 285:15, pages 11068-11072.
Crossref
Can Kayatekin, Jill A. Zitzewitz & C. Robert Matthews. (2010) Disulfide-Reduced ALS Variants of Cu, Zn Superoxide Dismutase Exhibit Increased Populations of Unfolded Species. Journal of Molecular Biology 398:2, pages 320-331.
Crossref
Masatoshi Suzuki, Sandra Klein, Elizabeth A. Wetzel, Michael Meyer, Jacalyn McHugh, Craig Tork, Antonio Hayes & Clive N. Svendsen. (2010) Acute glial activation by stab injuries does not lead to overt damage or motor neuron degeneration in the G93A mutant SOD1 rat model of amyotrophic lateral sclerosis. Experimental Neurology 221:2, pages 346-352.
Crossref
Manoj Kumar Jaiswal, Wolf-Dieter Zech, Miriam Goos, Christine Leutbecher, Alberto Ferri, Annette Zippelius, Maria Teresa Carrì, Roland Nau & Bernhard U Keller. (2009) Impairment of mitochondrial calcium handling in a mtSOD1 cell culture model of motoneuron disease. BMC Neuroscience 10:1.
Crossref
Satomi Maekawa, P. Nigel Leigh, Andrew King, Edith Jones, John C. Steele, Istvan Bodi, Christopher E. Shaw, Tibor Hortobagyi & Safa Al-Sarraj. (2009) TDP-43 is consistently co-localized with ubiquitinated inclusions in sporadic and Guam amyotrophic lateral sclerosis but not in familial amyotrophic lateral sclerosis with and without SOD1 mutations. Neuropathology 29:6, pages 672-683.
Crossref
P. Andreas Jonsson, Karin S. Graffmo, Peter M. Andersen, Stefan L. Marklund & Thomas Brännström. (2009) Superoxide dismutase in amyotrophic lateral sclerosis patients homozygous for the D90A mutation. Neurobiology of Disease 36:3, pages 421-424.
Crossref
Johnny S. Salameh, Nazem Atassi & William S. David. (2009) SOD1 (A4V)-mediated ALS presenting with lower motor neuron facial diplegia and unilateral vocal cord paralysis. Muscle & Nerve 40:5, pages 880-882.
Crossref
Sai V. Seetharaman, Mercedes Prudencio, Celeste Karch, Stephen P. Holloway, David R. Borchelt & P. John Hart. (2009) Immature Copper-Zinc Superoxide Dismutase and Familial Amyotrophic Lateral Sclerosis. Experimental Biology and Medicine 234:10, pages 1140-1154.
Crossref
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.
Crossref
Wendy J. Broom, Daniel V. Johnson, Manuel Garber, Peter M. Andersen, Niall Lennon, John Landers, Chad Nusbaum, Carsten Russ & Robert H. BrownJr.Jr.. (2009) DNA sequence analysis of the conserved region around the SOD1 gene locus in recessively inherited ALS. Neuroscience Letters 463:1, pages 64-69.
Crossref
Kari A. TrumbullJoseph S. Beckman. (2009) A Role for Copper in the Toxicity of Zinc-Deficient Superoxide Dismutase to Motor Neurons in Amyotrophic Lateral Sclerosis. Antioxidants & Redox Signaling 11:7, pages 1627-1639.
Crossref
Yahya Choonara, Viness Pillay, Lisa Du Toit, Girish Modi, Dinesh Naidoo, Valence Ndesendo & Sibongile Sibambo. (2009) Trends in the Molecular Pathogenesis and Clinical Therapeutics of Common Neurodegenerative Disorders. International Journal of Molecular Sciences 10:6, pages 2510-2557.
Crossref
Junghee Lee, Mari Kannagi, Robert J. Ferrante, Neil W. Kowall & Hoon Ryu. (2009) Activation of Ets‐2 by oxidative stress induces Bcl‐xL expression and accounts for glial survival in amyotrophic lateral sclerosis. The FASEB Journal 23:6, pages 1739-1749.
Crossref
Daniel Bergemalm, Karin Forsberg, P. Andreas Jonsson, Karin S. Graffmo, Thomas Brännström, Peter M. Andersen, Henrik Antti & Stefan L. Marklund. (2009) Changes in the Spinal Cord Proteome of an Amyotrophic Lateral Sclerosis Murine Model Determined by Differential In-gel Electrophoresis. Molecular & Cellular Proteomics 8:6, pages 1306-1317.
Crossref
Sang Hwa Kim, Yuling Shi, Keith A. Hanson, Leah M. Williams, Ryo Sakasai, Michael J. Bowler & Randal S. Tibbetts. (2009) Potentiation of Amyotrophic Lateral Sclerosis (ALS)-associated TDP-43 Aggregation by the Proteasome-targeting Factor, Ubiquilin 1. Journal of Biological Chemistry 284:12, pages 8083-8092.
Crossref
Stefania Corti, Chiara Donadoni, Dario Ronchi, Andreina Bordoni, Francesco Fortunato, Domenico Santoro, Roberto Del Bo, Valeria Lucchini, Veronica Crugnola, Dimitra Papadimitriou, Sabrina Salani, Maurizio Moggio, Nereo Bresolin & Giacomo P. Comi. (2009) Amyotrophic lateral sclerosis linked to a novel SOD1 mutation with muscle mitochondrial dysfunction. Journal of the Neurological Sciences 276:1-2, pages 170-174.
Crossref
Cleber A. Trujillo, Telma T. Schwindt, Antonio H. Martins, Janaína M. Alves, Luiz Eugênio Mello & Henning Ulrich. (2008) Novel perspectives of neural stem cell differentiation: From neurotransmitters to therapeutics. Cytometry Part A 75A:1, pages 38-53.
Crossref
Masatoshi Suzuki, Jacalyn McHugh, Craig Tork, Brandon Shelley, Antonio Hayes, Ilaria Bellantuono, Patrick Aebischer & Clive N Svendsen. (2008) Direct Muscle Delivery of GDNF With Human Mesenchymal Stem Cells Improves Motor Neuron Survival and Function in a Rat Model of Familial ALS. Molecular Therapy 16:12, pages 2002-2010.
Crossref
Can Kayatekin, Jill A. Zitzewitz & C. Robert Matthews. (2008) Zinc Binding Modulates the Entire Folding Free Energy Surface of Human Cu,Zn Superoxide Dismutase. Journal of Molecular Biology 384:2, pages 540-555.
Crossref
Florian L. Muller, Yuhong Liu, Amanda Jernigan, David Borchelt, Arlan Richardson & Holly Van Remmen. (2008) MnSOD deficiency has a differential effect on disease progression in two different ALS mutant mouse models. Muscle & Nerve 38:3, pages 1173-1183.
Crossref
Masatoshi Suzuki & Clive N. Svendsen. (2008) Combining growth factor and stem cell therapy for amyotrophic lateral sclerosis. Trends in Neurosciences 31:4, pages 192-198.
Crossref
Dick Jaarsma, Eva Teuling, Elize D. Haasdijk, Chris I. De Zeeuw & Casper C. Hoogenraad. (2008) Neuron-Specific Expression of Mutant Superoxide Dismutase Is Sufficient to Induce Amyotrophic Lateral Sclerosis in Transgenic Mice. The Journal of Neuroscience 28:9, pages 2075-2088.
Crossref
P. Corcia, J. Praline, P. Vourc’h & C. Andres. (2008) Génétique des maladies du motoneurone. Revue Neurologique 164:2, pages 115-130.
Crossref
W.J. Broom, D.V. Johnson, K.E. Auwarter, A.J. Iafrate, C. Russ, A. Al-Chalabi, P.C. Sapp, D. McKenna-Yasek, P.M. Andersen & R.H. BrownJr.Jr.. (2008) SOD1A4V-mediated ALS: Absence of a closely linked modifier gene and origination in Asia. Neuroscience Letters 430:3, pages 241-245.
Crossref
J. Praline & P. Corcia. (2008) Genetica della sclerosi laterale amiotrofica. EMC - Neurologia 8:3, pages 1-8.
Crossref
J. Praline & P. Corcia. (2008) Génétique de la sclérose latérale amyotrophique. EMC - Neurologie 5:2, pages 1-8.
Crossref
Stephan Niemann, Wendy J. Broom & Robert H. Brown Jr.. (2007) Analysis of a genetic defect in the TATA box of theSOD1 gene in a patient with familial amyotrophic lateral sclerosis. Muscle & Nerve 36:5, pages 704-707.
Crossref
Gianluca Marucci, Luca Morandi, Ilaria Bartolomei, Fabrizio Salvi, Annalisa Pession, Alberto Righi, Giuseppe Lauria & Maria P. Foschini. (2007) Amyotrophic lateral sclerosis with mutation of the Cu/Zn superoxide dismutase gene (SOD1) in a patient with Down syndrome. Neuromuscular Disorders 17:9-10, pages 673-676.
Crossref
Per Zetterström, Heather G. Stewart, Daniel Bergemalm, P. Andreas Jonsson, Karin S. Graffmo, Peter M. AndersenThomas Brännström, Mikael Oliveberg & Stefan L. Marklund. (2007) Soluble misfolded subfractions of mutant superoxide dismutase-1s are enriched in spinal cords throughout life in murine ALS models. Proceedings of the National Academy of Sciences 104:35, pages 14157-14162.
Crossref
Masatoshi Suzuki, Jacalyn McHugh, Craig Tork, Brandon Shelley, Sandra M. Klein, Patrick Aebischer & Clive N. Svendsen. (2007) GDNF Secreting Human Neural Progenitor Cells Protect Dying Motor Neurons, but Not Their Projection to Muscle, in a Rat Model of Familial ALS. PLoS ONE 2:8, pages e689.
Crossref
Erik Sandelin, Anna Nordlund, Peter M. Andersen, Stefan S.L. Marklund & Mikael Oliveberg. (2007) Amyotrophic Lateral Sclerosis-associated Copper/Zinc Superoxide Dismutase Mutations Preferentially Reduce the Repulsive Charge of the Proteins. Journal of Biological Chemistry 282:29, pages 21230-21236.
Crossref
Caroline Rouaux, Irina Panteleeva, Frédérique René, Jose-Luis Gonzalez de Aguilar, Andoni Echaniz-Laguna, Luc Dupuis, Yannick Menger, Anne-Laurence Boutillier & Jean-Philippe Loeffler. (2007) Sodium Valproate Exerts Neuroprotective Effects In Vivo through CREB-Binding Protein-Dependent Mechanisms But Does Not Improve Survival in an Amyotrophic Lateral Sclerosis Mouse Model . The Journal of Neuroscience 27:21, pages 5535-5545.
Crossref
G. Siciliano, S. Piazza, C. Carlesi, A. Corona, M. Franzini, A. Pompella, G. Malvaldi, M. Mancuso, A. Paolicchi & L. Murri. (2007) Antioxidant capacity and protein oxidation in cerebrospinal fluid of amyotrophic lateral sclerosis. Journal of Neurology 254:5, pages 575-580.
Crossref
Ali Naini, Mahsa Mehrazin, Jiesheng Lu, Paul Gordon & Hiroshi Mitsumoto. (2007) Identification of a novel D109Y mutation in Cu/Zn superoxide dismutase (sod1) gene associated with amyotrophic lateral sclerosis. Journal of the Neurological Sciences 254:1-2, pages 17-21.
Crossref
Wen Li, Danielle Brakefield, Yanchun Pan, Dan Hunter, Terence M. Myckatyn & Alexander Parsadanian. (2007) Muscle-derived but not centrally derived transgene GDNF is neuroprotective in G93A-SOD1 mouse model of ALS. Experimental Neurology 203:2, pages 457-471.
Crossref
Andreas Hörnberg, Derek T. Logan, Stefan L. Marklund & Mikael Oliveberg. (2007) The Coupling between Disulphide Status, Metallation and Dimer Interface Strength in Cu/Zn Superoxide Dismutase. Journal of Molecular Biology 365:2, pages 333-342.
Crossref
Christopher E. Shaw, Virginia Arechavala-Gomeza & Ammar Al-Chalabi. 2007. Motor neuron disorders and related diseases. Motor neuron disorders and related diseases 279 300 .
Autumn M. Klein & Robert J. Ferrante. 2007. Creatine and Creatine Kinase in Health and Disease. Creatine and Creatine Kinase in Health and Disease 205 243 .
P. Andreas Jonsson, Karin S. Graffmo, Thomas Brännström, Peter Nilsson, Peter M. Andersen & Stefan L. Marklund. (2006) Motor Neuron Disease in Mice Expressing the Wild Type-Like D90A Mutant Superoxide Dismutase-1. Journal of Neuropathology and Experimental Neurology 65:12, pages 1126-1136.
Crossref
L. Corrado, S. D’Alfonso, L. Bergamaschi, L. Testa, M. Leone, N. Nasuelli, P. Momigliano-Richiardi & L. Mazzini. (2006) SOD1 gene mutations in Italian patients with Sporadic Amyotrophic Lateral Sclerosis (ALS). Neuromuscular Disorders 16:11, pages 800-804.
Crossref
Claire L. Simpson & Ammar Al-Chalabi. (2006) Amyotrophic lateral sclerosis as a complex genetic disease. Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease 1762:11-12, pages 973-985.
Crossref
Allitia B. DiBernardo & Merit E. Cudkowicz. (2006) Translating preclinical insights into effective human trials in ALS. Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease 1762:11-12, pages 1139-1149.
Crossref
Wendy J. Broom, Kristen E. Auwarter, Jake Ni, Deborah E. Russel, Li-An Yeh, Michele M. Maxwell, Marcie Glicksman, Aleksey G. Kazantsev & Robert H. Brown Jr.. (2006) Two Approaches to Drug Discovery in SOD1-Mediated ALS. SLAS Discovery 11:7, pages 729-735.
Crossref
Nizar Souayah & Howard W. Sander. (2006) Lumbosacral Magnetic Root Stimulation in Lumbar Plexopathy. American Journal of Physical Medicine & Rehabilitation 85:10, pages 858-861.
Crossref
Christopher E. ShawAmmar Al-Chalabi. (2006) Susceptibility genes in sporadic ALS. Neurology 67:5, pages 738-739.
Crossref
Piera Pasinelli & Robert H. Brown. (2006) Molecular biology of amyotrophic lateral sclerosis: insights from genetics. Nature Reviews Neuroscience 7:9, pages 710-723.
Crossref
Josep Gamez, Marc Corbera-Bellalta, Gisela Nogales, Nuria Raguer, Elena García-Arumí, Mercè Badia-Canto, E. Lladó-Carbó & José Álvarez-Sabín. (2006) Mutational analysis of the Cu/Zn superoxide dismutase gene in a Catalan ALS population: Should all sporadic ALS cases also be screened for SOD1?. Journal of the Neurological Sciences 247:1, pages 21-28.
Crossref
Heather G. Stewart, Peter M. Andersen, Andrew Eisen & Markus Weber. (2006) Corticomotoneuronal dysfunction in ALS patients with different SOD1 mutations. Clinical Neurophysiology 117:8, pages 1850-1861.
Crossref
Anna Nordlund & Mikael Oliveberg. (2006) Folding of Cu/Zn superoxide dismutase suggests structural hotspots for gain of neurotoxic function in ALS: Parallels to precursors in amyloid disease. Proceedings of the National Academy of Sciences 103:27, pages 10218-10223.
Crossref
H.G. Stewart, I.R. Mackenzie, A. Eisen, T. Brännström, S.L. Marklund & P.M. Andersen. (2006) Clinicopathological phenotype of ALS with a novel G72C SOD1 gene mutation mimicking a myopathy . Muscle & Nerve 33:5, pages 701-706.
Crossref
Caroline Vance, Ammar Al-Chalabi, Deborah Ruddy, Bradley N. Smith, Xun Hu, Jemeen Sreedharan, Teepu Siddique, H. Jurgen Schelhaas, Benno Kusters, Dirk Troost, Frank Baas, Vianney de Jong & Christopher E. Shaw. (2006) Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2–21.3. Brain 129:4, pages 868-876.
Crossref
Peter B. Stathopulos, Jessica A.O. Rumfeldt, Farhad Karbassi, Clare A. Siddall, James R. Lepock & Elizabeth M. Meiering. (2006) Calorimetric Analysis of Thermodynamic Stability and Aggregation for Apo and Holo Amyotrophic Lateral Sclerosis-associated Gly-93 Mutants of Superoxide Dismutase. Journal of Biological Chemistry 281:10, pages 6184-6193.
Crossref
P. Andreas Jonsson, Karin S. Graffmo, Peter M. Andersen, Thomas Brännström, Mikael Lindberg, Mikael Oliveberg & Stefan L. Marklund. (2006) Disulphide-reduced superoxide dismutase-1 in CNS of transgenic amyotrophic lateral sclerosis models. Brain 129:2, pages 451-464.
Crossref
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.
Crossref
Wendy J. Broom, Ilknur Ay, Piera Pasinelli & Robert H. BrownJr.Jr.. (2006) Inhibition of SOD1 expression by mitomycin C is a non-specific consequence of cellular toxicity. Neuroscience Letters 393:2-3, pages 184-188.
Crossref
P. M. Andersen, G. D. Borasio, R. Dengler, O. Hardiman, K. Kollewe, P. N. Leigh, P.‐F. Pradat, V. Silani & B. Tomik. 2006. European Handbook of Neurological Management. European Handbook of Neurological Management 299 321 .
P. M. Andersen, G. D. Borasio, R. Dengler, O. Hardiman, K. Kollewe, P. N. Leigh, P.-F. Pradat, V. Silani & B. Tomik. (2005) EFNS task force on management of amyotrophic lateral sclerosis: guidelines for diagnosing and clinical care of patients and relatives. An evidence-based review with good practice points. European Journal of Neurology 12:12, pages 921-938.
Crossref
Lisa Dellefave & Teepu Siddique. 2005. Neurogenetics. Neurogenetics 681 716 .
Angela S. Vlug, Eva Teuling, Elize D. Haasdijk, Pim French, Casper C. Hoogenraad & Dick Jaarsma. (2005) ATF3 expression precedes death of spinal motoneurons in amyotrophic lateral sclerosis-SOD1 transgenic mice and correlates with c-Jun phosphorylation, CHOP expression, somato-dendritic ubiquitination and Golgi fragmentation. European Journal of Neuroscience 22:8, pages 1881-1894.
Crossref
Carmel Armon. (2005) Acquired nucleic acid changes may trigger sporadic amyotrophic lateral sclerosis. Muscle & Nerve 32:3, pages 373-377.
Crossref
Ashutosh Tiwari, Zuoshang Xu & Lawrence J. Hayward. (2005) Aberrantly Increased Hydrophobicity Shared by Mutants of Cu,Zn-Superoxide Dismutase in Familial Amyotrophic Lateral Sclerosis. Journal of Biological Chemistry 280:33, pages 29771-29779.
Crossref
Mikael J. Lindberg, Roberth Byström, Niklas Boknäs, Peter M. Andersen & Mikael Oliveberg. (2005) Systematically perturbed folding patterns of amyotrophic lateral sclerosis (ALS)-associated SOD1 mutants. Proceedings of the National Academy of Sciences 102:28, pages 9754-9759.
Crossref
S. Battistini, F. Giannini, G. Greco, G. Bibbò, L. Ferrera, V. Marini, R. Causarano, M. Casula, G. Lando, M. C. Patrosso, C. Caponnetto, P. Origone, A. Marocchi, A. Del Corona, G. Siciliano, P. Carrera, V. Mascia, M. Giagheddu, C. Carcassi, S. Orrù, C. Garrè & S. Penco. (2005) SOD1 mutations in amyotrophic lateral sclerosis. Journal of Neurology 252:7, pages 782-788.
Crossref
M. Flint Beal, Anthony E. Lang & Albert C. LudolphAmmar Al-Chalabi & Robert H. Brown. 2010. Neurodegenerative Diseases. Neurodegenerative Diseases 758 771 .
M. Flint Beal, Anthony E. Lang & Albert C. LudolphStefan L. Marklund. 2010. Neurodegenerative Diseases. Neurodegenerative Diseases 3 17 .
Joan Selverstone ValentinePeter A. DoucetteSoshanna Zittin Potter. (2005) COPPER-ZINC SUPEROXIDE DISMUTASE AND AMYOTROPHIC LATERAL SCLEROSIS. Annual Review of Biochemistry 74:1, pages 563-593.
Crossref
Hoon Ryu, Karen Smith, Sandra I. Camelo, Isabel Carreras, Junghee Lee, Antonio H. Iglesias, Fernando Dangond, Kerry A. Cormier, Merit E. Cudkowicz, Robert H. BrownJrJr & Robert J. Ferrante. (2005) Sodium phenylbutyrate prolongs survival and regulates expression of anti-apoptotic genes in transgenic amyotrophic lateral sclerosis mice. Journal of Neurochemistry 93:5, pages 1087-1098.
Crossref
M. R. Turner, A. Hammers, A. Al-Chalabi, C. E. Shaw, P. M. Andersen, D. J. Brooks & P. N. Leigh. (2005) Distinct cerebral lesions in sporadic and ‘D90A’ SOD1 ALS: studies with [11C]flumazenil PET. Brain 128:6, pages 1323-1329.
Crossref
Sandra M. KleinSoshana BehrstockJacalyn McHughKristin HoffmannKyle WallaceMasatoshi SuzukiPatrick AebischerClive N. Svendsen. (2005) GDNF Delivery Using Human Neural Progenitor Cells in a Rat Model of ALS. Human Gene Therapy 16:4, pages 509-521.
Crossref
AMMAR AL-CHALABI & P. NIGEL LEIGH. 2005. Peripheral Neuropathy. Peripheral Neuropathy 1595 1601 .
W. J. BroomM. J. PartonC. A. VanceC. RussP. M. AndersenV. HansenP. N. LeighJ. F. PowellA. Al-ChalabiC. E. Shaw. (2004) No association of the SOD1 locus and disease susceptibility or phenotype in sporadic ALS . Neurology 63:12, pages 2419-2422.
Crossref
Catherine B. Kunst. (2004) Complex Genetics of Amyotrophic Lateral Sclerosis. The American Journal of Human Genetics 75:6, pages 933-947.
Crossref
Mikael J. Lindberg, Johanna Normark, Arne Holmgren & Mikael Oliveberg. (2004) Folding of human superoxide dismutase: Disulfide reduction prevents dimerization and produces marginally stable monomers. Proceedings of the National Academy of Sciences 101:45, pages 15893-15898.
Crossref
Piera Pasinelli, Mary Elizabeth Belford, Niall Lennon, Brian J Bacskai, Bradley T Hyman, Davide Trotti & Robert H BrownJr.Jr.. (2004) Amyotrophic Lateral Sclerosis-Associated SOD1 Mutant Proteins Bind and Aggregate with Bcl-2 in Spinal Cord Mitochondria. Neuron 43:1, pages 19-30.
Crossref
Jian Liu, Concepción Lillo, P.Andreas Jonsson, Christine Vande Velde, Christopher M Ward, Timothy M Miller, Jamuna R Subramaniam, Jeffery D Rothstein, Stefan Marklund, Peter M Andersen, Thomas Brännström, Ole Gredal, Philip C Wong, David S Williams & Don W Cleveland. (2004) Toxicity of Familial ALS-Linked SOD1 Mutants from Selective Recruitment to Spinal Mitochondria. Neuron 43:1, pages 5-17.
Crossref
Abena D. Osei-Lah, Martin R. Turner, Peter M. Andersen, P. Nigel Leigh & Kerry R. Mills. (2004) A novel central motor conduction abnormality in D90A-homozygous patients with amyotrophic lateral sclerosis. Muscle & Nerve 29:6, pages 790-794.
Crossref
Mitchel D. de Beus, Jinhyuk Chung & Wilfredo Colón. (2004) Modification of cysteine 111 in Cu/Zn superoxide dismutase results in altered spectroscopic and biophysical properties. Protein Science 13:5, pages 1347-1355.
Crossref
Gisela Nogales-Gadea, Elena Garcia-Arumi, Antonio L. Andreu, Carlos Cervera & Josep Gamez. (2004) A novel exon 5 mutation (N139H) in the SOD1 gene in a Spanish family associated with incomplete penetrance. Journal of the Neurological Sciences 219:1-2, pages 1-6.
Crossref
Michele M. Maxwell, Piera Pasinelli, Aleksey G. Kazantsev & Robert H. BrownJr.Jr.. (2004) RNA interference-mediated silencing of mutant superoxide dismutase rescues cyclosporin A-induced death in cultured neuroblastoma cells. Proceedings of the National Academy of Sciences 101:9, pages 3178-3183.
Crossref
Peter M. Andersen, Gabriella Restagno, Heather G. Stewart & Adriano Chiò. (2004) Disease penetrance in amyotrophic lateral sclerosis associated with mutations in the SOD1 gene . Annals of Neurology 55:2, pages 298-299.
Crossref
P. Andreas Jonsson, Karin Ernhill, Peter M. Andersen, Daniel Bergemalm, Thomas Brännström, Ole Gredal, Peter Nilsson & Stefan L. Marklund. (2004) Minute quantities of misfolded mutant superoxide dismutase‐1 cause amyotrophic lateral sclerosis. Brain 127:1, pages 73-88.
Crossref
Andrew Eisen. 2004. Advances in Clinical Neurophysiology, Proceedings of the 27th International Congress of Clinical Neurophysiology, AAEM 50th Anniversary and 57th Annual Meeting of the ACNS Joint Meeting. Advances in Clinical Neurophysiology, Proceedings of the 27th International Congress of Clinical Neurophysiology, AAEM 50th Anniversary and 57th Annual Meeting of the ACNS Joint Meeting 187 190 .
Heather G. Stewart & Peter M. Andersen. 2004. Clinical Neurophysiology of Motor Neuron Diseases. Clinical Neurophysiology of Motor Neuron Diseases 543 562 .
M. Dewil, P.M. Andersen, L. Van Den Bosch & W. Robberecht. 2004. Clinical Neurophysiology of Motor Neuron Diseases. Clinical Neurophysiology of Motor Neuron Diseases 169 186 .

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.