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Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration Volume 14, 2013 - Issue 3
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The FIG4 gene does not play a major role in causing ALS in Italian patients

Simonetta VerdianiDepartment of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal Child Health – University of Genova
,
Paola OrigoneDepartment of Internal Medicine and U.O. Medical Genetics of IRCCS AOU S. Martino – IST, Genova
,
Alessandro GeroldiDepartment of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal Child Health – University of Genova
,
Monica Bandettini Di PoggioDepartment of Neuroscience, Rehabilitation, Ophtalmology, Genetics and Maternal Child Health – University of Genova and U.O. Neurology of IRCCS AOU S. Martino – IST, Genova
,
Vittorio ManteroDepartment of Neuroscience, Rehabilitation, Ophtalmology, Genetics and Maternal Child Health – University of Genova and U.O. Neurology of IRCCS AOU S. Martino – IST, Genova
,
Emilia BelloneDepartment of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal Child Health – University of Genova, and U.O. Medical Genetics of IRCCS AOU S. Martino – IST, Genova, Italy
,
Gianluigi MancardiDepartment of Neuroscience, Rehabilitation, Ophtalmology, Genetics and Maternal Child Health – University of Genova and U.O. Neurology of IRCCS AOU S. Martino – IST, Genova
,
Claudia CaponnettoDepartment of Neuroscience, Rehabilitation, Ophtalmology, Genetics and Maternal Child Health – University of Genova and U.O. Neurology of IRCCS AOU S. Martino – IST, Genova
&
Paola MandichDepartment of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal Child Health – University of Genova, and U.O. Medical Genetics of IRCCS AOU S. Martino – IST, Genova, ItalyCorrespondence[email protected]
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Pages 228-229 | Received 17 Oct 2012, Accepted 16 Dec 2012, Published online: 22 Jan 2013

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Afnan A Alsultan, Rachel Waller, Paul R Heath & Janine Kirby. (2016) The genetics of amyotrophic lateral sclerosis: current insights. Degenerative Neurological and Neuromuscular Disease 6, pages 49-64.
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Owen Connolly, Laura Le Gall, Gavin McCluskey, Colette G Donaghy, William J Duddy & Stephanie Duguez. (2020) A Systematic Review of Genotype–Phenotype Correlation across Cohorts Having Causal Mutations of Different Genes in ALS. Journal of Personalized Medicine 10:3, pages 58.
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Paige B. Martin, Amy N. Hicks, Sarah E. Holbrook & Gregory A. Cox. (2020) Overlapping spectrums: The clinicogenetic commonalities between Charcot-Marie-Tooth and other neurodegenerative diseases. Brain Research 1727, pages 146532.
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Jonathan R. Volpatti, Almundher Al-Maawali, Lindsay Smith, Aqeela Al-Hashim, Julie A. Brill & James J. Dowling. (2019) The expanding spectrum of neurological disorders of phosphoinositide metabolism. Disease Models & Mechanisms 12:8.
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C. Maurel, A. Dangoumau, S. Marouillat, C. Brulard, A. Chami, R. Hergesheimer, P. Corcia, H. Blasco, C. R. Andres & P. Vourc’h. (2018) Causative Genes in Amyotrophic Lateral Sclerosis and Protein Degradation Pathways: a Link to Neurodegeneration. Molecular Neurobiology 55:8, pages 6480-6499.
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Alma Osmanovic, Isolde Rangnau, Anne Kosfeld, Susanne Abdulla, Claas Janssen, Bernd Auber, Peter Raab, Matthias Preller, Susanne Petri & Ruthild G Weber. (2017) FIG4 variants in central European patients with amyotrophic lateral sclerosis: a whole-exome and targeted sequencing study. European Journal of Human Genetics 25:3, pages 324-331.
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Ognian C. Ikonomov, Diego Sbrissa, Lauren M. Compton, Rita Kumar, Ellen J. Tisdale, Xuequn Chen & Assia Shisheva. (2015) The Protein Complex of Neurodegeneration-related Phosphoinositide Phosphatase Sac3 and ArPIKfyve Binds the Lewy Body-associated Synphilin-1, Preventing Its Aggregation. Journal of Biological Chemistry 290:47, pages 28515-28529.
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Philippe M. Campeau, Guy M. Lenk, James T. Lu, Yangjin Bae, Lindsay Burrage, Peter Turnpenny, Jorge Román Corona-Rivera, Lucia Morandi, Marina Mora, Heiko Reutter, Anneke T. Vulto-van Silfhout, Laurence Faivre, Eric Haan, Richard A. Gibbs, Miriam H. Meisler & Brendan H. Lee. (2013) Yunis-Varón Syndrome Is Caused by Mutations in FIG4, Encoding a Phosphoinositide Phosphatase. The American Journal of Human Genetics 92:5, pages 781-791.
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