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Amyotrophic Lateral Sclerosis Volume 11, 2010 - Issue 1-2
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Original Article

Enlarging clinical spectrum of FALS with TARDBP gene mutations: S393L variant in an Italian family showing phenotypic variability and relevance for genetic counselling

Paola Origone Department of Oncology, Biology and Genetics, University of Genoa and U.O. Medical Genetics of Azienda Ospedaliera, Universitaria S. Martino di Genova,
,
Claudia Caponnetto Department of Neuroscience, Ophthalmology and Genetics – Section of Neurology, University of Genoa and U.O. Neurology II of Azienda Ospedaliera, Universitaria S. Martino di Genova,
,
Monica Bandettini Di Poggio Department of Neuroscience, Ophthalmology and Genetics – Section of Neurology, University of Genoa and U.O. Neurology II of Azienda Ospedaliera, Universitaria S. Martino di Genova,
,
Elisabetta Ghiglione U.O. Neurologia, Alessandria, ASL
,
Emilia Bellone Department of Neuroscience, Ophthalmology and Genetics – Section of Medical Genetics, University of Genoa and U.O. Medical Genetics of Azienda Ospedaliera, Universitaria S. Martino di Genova,
,
Giovanna Ferrandes U.O. Clinical Psychology of Azienda Ospedaliera, Universitaria S. Martino di Genova,
,
Giovanni Luigi Mancardi Department of Neuroscience, Ophthalmology and Genetics – Section of Neurology, University of Genoa and U.O. Neurology II of Azienda Ospedaliera, Universitaria S. Martino di Genova,
&
Paola Mandich Department of Neuroscience, Ophthalmology and Genetics – Section of Medical Genetics, University of Genoa and U.O. Medical Genetics of Azienda Ospedaliera, Universitaria S. Martino di Genova,Correspondence[email protected]
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Pages 223-227 | Received 20 May 2009, Accepted 29 Jun 2009, Published online: 26 Feb 2010

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Paola Origone, Jennifer Accardo, Simonetta Verdiani, Merit Lamp, Dario Arnaldi, Emilia Bellone, Agnese Picco, Silvia Morbelli, Paola Mandich & Flavio Nobili. (2015) Neuroimaging features in C9orf72 and TARDBP double mutation with FTD phenotype. Neurocase 21:4, pages 529-534.
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Tim van Langenhove, Julie van der Zee & Christine van Broeckhoven. (2012) The molecular basis of the frontotemporal lobar degeneration–amyotrophic lateral sclerosis spectrum. Annals of Medicine 44:8, pages 817-828.
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Imen Kacem, Benoît Funalot, Frédéric Torny, Géraldine Lautrette, Peter M. Andersen & Philippe Couratier. (2012) Early onset Parkinsonism associated with an intronic SOD1 mutation. Amyotrophic Lateral Sclerosis 13:3, pages 315-317.
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Julien Praline, Patrick Vourc'h, Anne-Marie Guennoc, Charlotte Veyrat-Durebex & Philippe Corcia. (2012) Co-occurrence of progressive anarthria with an S393L TARDBP mutation and ALS within a family. Amyotrophic Lateral Sclerosis 13:1, pages 155-157.
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Articles from other publishers (18)

Cinzia Tiloca, Stefano Goldwurm, Narghes Calcagno, Federico Verde, Silvia Peverelli, Daniela Calini, Anna Lena Zecchinelli, Davide Sangalli, Antonia Ratti, Gianni Pezzoli, Vincenzo Silani & Nicola Ticozzi. (2022) TARDBP mutations in a cohort of Italian patients with Parkinson’s disease and atypical parkinsonisms. Frontiers in Aging Neuroscience 14.
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N. Kreiter, A. Pal, X. Lojewski, P. Corcia, M. Naujock, P. Reinhardt, J. Sterneckert, S. Petri, F. Wegner, A. Storch & A. Hermann. (2018) Age-dependent neurodegeneration and organelle transport deficiencies in mutant TDP43 patient-derived neurons are independent of TDP43 aggregation. Neurobiology of Disease 115, pages 167-181.
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Merit Lamp, Paola Origone, Alessandro Geroldi, Simonetta Verdiani, Fabio Gotta, Claudia Caponnetto, Grazia Devigili, Lorenzo Verriello, Carlo Scialò, Corrado Cabona, Antonio Canosa, Irene Vanni, Emilia Bellone, Roberto Eleopra & Paola Mandich. (2018) Twenty years of molecular analyses in amyotrophic lateral sclerosis: genetic landscape of Italian patients. Neurobiology of Aging 66, pages 179.e5-179.e16.
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Katannya Kapeli, Fernando J. Martinez & Gene W. Yeo. (2017) Genetic mutations in RNA-binding proteins and their roles in ALS. Human Genetics 136:9, pages 1193-1214.
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Jer-Cherng Chang & David B. Morton. (2017) Drosophila lines with mutant and wild type human TDP-43 replacing the endogenous gene reveals phosphorylation and ubiquitination in mutant lines in the absence of viability or lifespan defects. PLOS ONE 12:7, pages e0180828.
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Yulong Sun & Avijit Chakrabartty. (2017) Phase to Phase with TDP-43. Biochemistry 56:6, pages 809-823.
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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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Chien-Hao Chiang, Cédric Grauffel, Lien-Szu Wu, Pan-Hsien Kuo, Lyudmila G. Doudeva, Carmay Lim, Che-Kun James Shen & Hanna S. Yuan. (2016) Structural analysis of disease-related TDP-43 D169G mutation: linking enhanced stability and caspase cleavage efficiency to protein accumulation. Scientific Reports 6:1.
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Emma L. Scotter, Han-Jou Chen & Christopher E. Shaw. (2015) TDP-43 Proteinopathy and ALS: Insights into Disease Mechanisms and Therapeutic Targets. Neurotherapeutics 12:2, pages 352-363.
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Emanuele Buratti. 2015. 1 53 .
Serena Lattante, Guy A. Rouleau & Edor Kabashi. (2013) TARDBP and FUS Mutations Associated with Amyotrophic Lateral Sclerosis: Summary and Update . Human Mutation 34:6, pages 812-826.
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Shoji Watanabe, Kumi Kaneko & Koji Yamanaka. (2013) Accelerated Disease Onset with Stabilized Familial Amyotrophic Lateral Sclerosis (ALS)-linked Mutant TDP-43 Proteins. Journal of Biological Chemistry 288:5, pages 3641-3654.
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D. Czell, P.M. Andersen, M. Morita, C. Neuwirth, F. Perren & M. Weber. (2013) Phenotypes in Swiss Patients with Familial ALS Carrying <b><i>TARDBP</i></b> Mutations. Neurodegenerative Diseases 12:3, pages 150-155.
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Zhang-Yu Zou, Yu Peng, Xin-Ning Wang, Ming-Sheng Liu, Xiao-Guang Li & Li-Ying Cui. (2012) Screening of the TARDBP gene in familial and sporadic amyotrophic lateral sclerosis patients of Chinese origin. Neurobiology of Aging 33:9, pages 2229.e11-2229.e18.
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P. CorciaP. ValdmanisS. MillecampsC. LionnetH. BlascoK. MouzatH. DaoudV. BelzilR. MoralesN. PageotV. Danel-BrunaudN. VandenbergheP.F. PradatP. CouratierF. SalachasS. LumbrosoG.A. RouleauV. MeiningerW. Camu. (2012) Phenotype and genotype analysis in amyotrophic lateral sclerosis with TARDBP gene mutations . Neurology 78:19, pages 1519-1526.
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Rachel L. Redler & Nikolay V. Dokholyan. 2012. Molecular Biology of Neurodegenerative Diseases. Molecular Biology of Neurodegenerative Diseases 215 262 .
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
Gregory A Jicha & Peter T Nelson. (2011) Management of frontotemporal dementia: targeting symptom management in such a heterogeneous disease requires a wide range of therapeutic options. Neurodegenerative Disease Management 1:2, pages 141-156.
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