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Rüstem Yilmaz, Torsten Grehl, Lukas Eckrich, Ines Marschalkowski, Kanchi Weishaupt, Ivan Valkadinov, Melita Simic, David Brenner, Peter M. Andersen, Joachim Wolf & Jochen H. Weishaupt. (2023) Frequency of C9orf72 and SOD1 mutations in 302 sporadic ALS patients from three German ALS centers. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 24:5-6, pages 414-419.
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Kristiana Salmon, Nancy Anoja, Ari Breiner, Marvin Chum, Annie Dionne, Nicolas Dupré, Amanda Fiander, Daniel Fok, Amer Ghavanini, Sylvie Gosselin, Aaron Izenberg, Wendy Johnston, Sanjay Kalra, Geneviève Matte, Michel Melanson, Colleen O’Connell, Benjamin Ritsma, Kerri Schellenberg, Christen Shoesmith, Sandra Tremblay, Heather Williams & Angela Genge. (2022) Genetic testing for amyotrophic lateral sclerosis in Canada – an assessment of current practices. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 23:3-4, pages 305-312.
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Wonjae Sung, Jin-Ah Kim, Yong Sung Kim, Jinseok Park, Ki-Wook Oh, Jung-Joon Sung, Chang-Seok Ki, Young-Eun Kim & Seung Hyun Kim. (2023) An analysis of variants in TARDBP in the Korean population with amyotrophic lateral sclerosis: comparison with previous data. Scientific Reports 13:1.
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Reza Boostani, Nahid Olfati, Hosein Shamshiri, Zanireh Salimi, Farzad Fatehi, Seyed Arya Hedjazi, Atefeh Fakharian, Majid Ghasemi, Ali Asghar Okhovat, Keivan Basiri, Bahram Haghi Ashtiani, Behnaz Ansari, Gholam Reza Raissi, Seyed Ahmadreza Khatoonabadi, Payam Sarraf, Sara Movahed, Akram Panahi, Bentolhoda Ziaadini, Mohammad Yazdchi, Jalal Bakhtiyari & Shahriar Nafissi. (2023) Iranian clinical practice guideline for amyotrophic lateral sclerosis. Frontiers in Neurology 14.
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Arsh Haj Mohamad Ebrahim Ketabforoush, Rojin Chegini, Shirin Barati, Fatemeh Tahmasebi, Bardia Moghisseh, Mohammad Taghi Joghataei, Faezeh Faghihi & Fereshteh Azedi. (2023) Masitinib: The promising actor in the next season of the Amyotrophic Lateral Sclerosis treatment series. Biomedicine & Pharmacotherapy 160, pages 114378.
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Naoki Suzuki, Ayumi Nishiyama, Hitoshi Warita & Masashi Aoki. (2022) Genetics of amyotrophic lateral sclerosis: seeking therapeutic targets in the era of gene therapy. Journal of Human Genetics 68:3, pages 131-152.
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Munishikha Kalia, Mattia Miotto, Deborah Ness, Sarah Opie-Martin, Thomas P. Spargo, Lorenzo Di Rienzo, Tommaso Biagini, Francesco Petrizzelli, Ahmad Al Khleifat, Renata Kabiljo, Tommaso Mazza, Giancarlo Ruocco, Edoardo Milanetti, Richard JB Dobson, Ammar Al-Chalabi & Alfredo Iacoangeli. (2023) Molecular dynamics analysis of superoxide dismutase 1 mutations suggests decoupling between mechanisms underlying ALS onset and progression. Computational and Structural Biotechnology Journal 21, pages 5296-5308.
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Zhong-Yu Wang, Zeng-Jin Wen, Hai-Ming Xu, Yu Zhang & Yin-Feng Zhang. (2022) Exosomal noncoding RNAs in central nervous system diseases: biological functions and potential clinical applications. Frontiers in Molecular Neuroscience 15.
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Laxmi Kirola, Ashim Mukherjee & Mousumi Mutsuddi. (2022) Recent Updates on the Genetics of Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Molecular Neurobiology 59:9, pages 5673-5694.
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Kristiana Salmon, Matthew C. Kiernan, Seung H. Kim, Peter M. Andersen, Adriano Chio, Leonard H. van den Berg, Philip Van Damme, Ammar Al-Chalabi, Patricia Lillo, Jinsy A. Andrews & Angela Genge. (2022) The importance of offering early genetic testing in everyone with amyotrophic lateral sclerosis. Brain 145:4, pages 1207-1210.
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Paola Ruffo, Sebastiano Cavallaro & Francesca Luisa Conforti. (2022) The Advent of Omics Sciences in Clinical Trials of Motor Neuron Diseases. Journal of Personalized Medicine 12:5, pages 758.
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Paola Ruffo, Benedetta Perrone & Francesca Luisa Conforti. (2022) SOD-1 Variants in Amyotrophic Lateral Sclerosis: Systematic Re-Evaluation According to ACMG-AMP Guidelines. Genes 13:3, pages 537.
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Mariusz Berdyński, Przemysław Miszta, Krzysztof Safranow, Peter M. Andersen, Mitsuya Morita, Sławomir Filipek, Cezary Żekanowski & Magdalena Kuźma-Kozakiewicz. (2022) SOD1 mutations associated with amyotrophic lateral sclerosis analysis of variant severity. Scientific Reports 12:1.
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Paola Ruffo, Claudia Strafella, Raffaella Cascella, Valerio Caputo, Francesca Luisa Conforti, Sebastiano Andò & Emiliano Giardina. (2021) Deregulation of ncRNA in Neurodegenerative Disease: Focus on circRNA, lncRNA and miRNA in Amyotrophic Lateral Sclerosis. Frontiers in Genetics 12.
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Giulia Gentile, Benedetta Perrone, Giovanna Morello, Isabella Laura Simone, Sebastiano Andò, Sebastiano Cavallaro & Francesca Luisa Conforti. (2021) Individual Oligogenic Background in p.D91A-SOD1 Amyotrophic Lateral Sclerosis Patients. Genes 12:12, pages 1843.
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Anna Bartoletti-Stella, Veria Vacchiano, Silvia De Pasqua, Giacomo Mengozzi, Dario De Biase, Ilaria Bartolomei, Patrizia Avoni, Giovanni Rizzo, Piero Parchi, Vincenzo Donadio, Adriano Chiò, Annalisa Pession, Federico Oppi, Fabrizio Salvi, Rocco Liguori & Sabina Capellari. (2021) Targeted sequencing panels in Italian ALS patients support different etiologies in the ALS/FTD continuum. Journal of Neurology 268:10, pages 3766-3776.
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