Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 303 Records) |
| Query Trace: Amyotrophic Lateral Sclerosis and C9orf72[original query] |
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| Another de novo mutation in the SOD1 gene: the first Turkish patient with SOD1-His47Arg, a case report. Frontiers in genetics 2023 9 14 1208673. Elif Bayraktar, Vildan Çiftçi, Hilmi Uysal, A Nazl? Ba? |
| Novel data-driven subtypes and stages of brain atrophy in the ALS-FTD spectrum. Research square 2023 8 . Ting Shen, Jacob W Vogel, Jeffrey Duda, Jeffrey S Phillips, Philip A Cook, James Gee, Lauren Elman, Colin Quinn, Defne A Amado, Michael Baer, Lauren Massimo, Murray Grossman, David J Irwin, Corey T McMill |
| Spatial clustering of amyotrophic lateral sclerosis in Sardinia, Italy: The contribution of age, sex, and genetic factors. Muscle & nerve 2023 7 . Giuseppe Borghero, Maria Margherita Sechi, Rosario Vasta, Vincenzo Pierri, Francesca Pili, Ida Pateri, Silvy Pilotto, Tommaso Ercoli, Antonella Muroni, Adriano Chiò, Giovanni Defaz |
| Cumulative Genetic Score and C9orf72 Repeat Status Independently Contribute to Amyotrophic Lateral Sclerosis Risk in 2 Case-Control Studies. Neurology. Genetics 2023 6 9 (4): e200079. John Dou, Kelly Bakulski, Kai Guo, Junguk Hur, Lili Zhao, Sara Saez-Atienzar, Ali Stark, Ruth Chia, Alberto García-Redondo, Ricardo Rojas-Garcia, Juan Francisco Vázquez Costa, Ruben Fernandez Santiago, Sara Bandres-Ciga, Pilar Gómez-Garre, Maria Teresa Periñán, Pablo Mir, Jordi Pérez-Tur, Fernando Cardona, Manuel Menendez-Gonzalez, Javier Riancho, Daniel Borrego-Hernández, Lucia Galán-Dávila, Jon Infante Ceberio, Pau Pastor, Carmen Paradas, Oriol Dols-Icardo, Bryan J Traynor, Eva L Feldman, Stephen A Goutman, |
| Cognitive and neuropsychiatric endophenotypes in amyotrophic lateral sclerosis. Brain communications 2023 6 5 (3): fcad166. Emmet Costello, Marie Ryan, Bronagh Donohoe, Caoimhe Kavanagh, Marta Pinto-Grau, Mark Doherty, Russell Lewis McLaughlin, Caroline McHutchison, Sharon Abrahams, Mark Heverin, Orla Hardiman, Niall Pend |
| Genome-wide structural variant analysis identifies risk loci for non-Alzheimer's dementias. Cell genomics 2023 6 3 (6): 100316. Karri Kaivola, Ruth Chia, Jinhui Ding, Memoona Rasheed, Masashi Fujita, Vilas Menon, Ronald L Walton, Ryan L Collins, Kimberley Billingsley, Harrison Brand, Michael Talkowski, Xuefang Zhao, Ramita Dewan, Ali Stark, Anindita Ray, Sultana Solaiman, Pilar Alvarez Jerez, Laksh Malik, Ted M Dawson, Liana S Rosenthal, Marilyn S Albert, Olga Pletnikova, Juan C Troncoso, Mario Masellis, Julia Keith, Sandra E Black, Luigi Ferrucci, Susan M Resnick, Toshiko Tanaka, , , , , Eric Topol, Ali Torkamani, Pentti Tienari, Tatiana M Foroud, Bernardino Ghetti, John E Landers, Mina Ryten, Huw R Morris, John A Hardy, Letizia Mazzini, Sandra D'Alfonso, Cristina Moglia, Andrea Calvo, Geidy E Serrano, Thomas G Beach, Tanis Ferman, Neill R Graff-Radford, Bradley F Boeve, Zbigniew K Wszolek, Dennis W Dickson, Adriano Chiò, David A Bennett, Philip L De Jager, Owen A Ross, Clifton L Dalgard, J Raphael Gibbs, Bryan J Traynor, Sonja W Scho |
| Genetic screening for Huntington disease phenocopies in Sweden: A tertiary center case series focused on short tandem repeat (STR) disorders. Journal of the neurological sciences 2023 6 451 120707. Martin Paucar, José Laffita-Mesa, Valter Niemelä, Helena Malmgren, Inger Nennesmo, Kristina Lagerstedt-Robinson, Magnus Nordenskjöld, Per Svenningss |
| Spectrum and frequency of genetic variants in sporadic amyotrophic lateral sclerosis. Brain communications 2023 5 5 (3): fcad152. Wolfgang P Ruf, Matej Boros, Axel Freischmidt, David Brenner, Veselin Grozdanov, Joao de Meirelles, Thomas Meyer, Torsten Grehl, Susanne Petri, Julian Grosskreutz, Ute Weyen, Rene Guenther, Martin Regensburger, Tim Hagenacker, Jan C Koch, Alexander Emmer, Annekathrin Roediger, Robert Steinbach, Joachim Wolf, Jochen H Weishaupt, Paul Lingor, Marcus Deschauer, Isabell Cordts, Thomas Klopstock, Peter Reilich, Florian Schoeberl, Berthold Schrank, Daniel Zeller, Andreas Hermann, Antje Knehr, Kornelia Günther, Johannes Dorst, Joachim Schuster, Reiner Siebert, Albert C Ludolph, Kathrin Müll |
| C9orf72 Repeat Expansion Discordance in 6 Multigenerational Kindreds. Neurology. Genetics 2023 12 10 (1): e200112. Marie Ryan, Mark A Doherty, Ahmad Al Khleifat, Emmet Costello, Jennifer C Hengeveld, Mark Heverin, Ammar Al-Chalabi, Russell L Mclaughlin, Orla Hardim |
| Analysis of normal C9orf72 repeat length as possible disease modifier in amyotrophic lateral sclerosis. Amyotrophic lateral sclerosis & frontotemporal degeneration 2023 12 1-4. Silvia Peverelli, Alberto Brusati, Valeria Casiraghi, Marta Nice Sorce, Sabrina Invernizzi, Serena Santangelo, Claudia Morelli, Federico Verde, Vincenzo Silani, Nicola Ticozzi, Antonia Rat |
| Unveiling the SOD1-mediated ALS phenotype: insights from a comprehensive meta-analysis. Journal of neurology 2023 11 . Teuta Domi, Paride Schito, Giacomo Sferruzza, Tommaso Russo, Laura Pozzi, Federica Agosta, Paola Carrera, Nilo Riva, Massimo Filippi, Angelo Quattrini, Yuri Matteo Falzo |
| Identifying risk loci for FTD and shared genetic component with ALS: A large-scale multitrait association analysis. Neurobiology of aging 2023 11 134 28-39. Keying Chen, Tongyu Gao, Ying Liu, Kexuan Zhu, Ting Wang, Ping Ze |
| Disease survival and progression in TARDBP ALS patients from Sardinia, Italy. Journal of neurology 2023 10 . Giuseppe Borghero, Francesca Pili, Antonella Muroni, Tommaso Ercoli, Maria Ida Pateri, Silvy Pilotto, Alessandra Maccabeo, Giovanni Defaz |
| NEK1 haploinsufficiency worsens DNA damage, but not defective ciliogenesis, in C9ORF72 patient-derived iPSC-motoneurons. Human molecular genetics 2024 9 . Serena Santangelo, Sabrina Invernizzi, Marta Nice Sorce, Valeria Casiraghi, Silvia Peverelli, Alberto Brusati, Claudia Colombrita, Nicola Ticozzi, Vincenzo Silani, Patrizia Bossolasco, Antonia Rat |
| Small striatal huntingtin inclusions in patients with motor neuron disease with reduced penetrance and intermediate HTT gene expansions. Human molecular genetics 2024 9 . Anna-Karin Roos, Erica Stenvall, Emmy Skelton Kockum, Kornelia Åman Grönlund, Helena Alstermark, Anna Wuolikainen, Peter M Andersen, Angelica Nordin, Karin M E Forsbe |
| SOD1 gene screening in ALS - frequency of mutations, patients' attitudes to genetic information and transition to tofersen treatment in a multi-center program. Amyotrophic lateral sclerosis & frontotemporal degeneration 2024 9 1-10. Thomas Meyer, Peggy Schumann, Torsten Grehl, Ute Weyen, Susanne Petri, Annekathrin Rödiger, Robert Steinbach, Julian Grosskreutz, Sarah Bernsen, Patrick Weydt, Joachim Wolf, René Günther, Maximilian Vidovic, Petra Baum, Moritz Metelmann, Jochen H Weishaupt, Berthold Streubel, David C Kasper, Yasemin Koc, Dagmar Kettemann, Jenny Norden, Philipp Schmitt, Bertram Walter, Christoph Münch, Susanne Spittel, André Maier, Péter Körtvélyes |
| C9orf72 repeat expansions in Wakayama: One potential cause of amyotrophic lateral sclerosis in the Kii Peninsula, Japan. Journal of the neurological sciences 2024 9 466 123209. Seiji Emori, Kodai Kume, Yoshiaki Nakayama, Hidefumi Ito, Hideshi Kawaka |
| Cognitive reserve as a modulator of cognitive decline and of behavioral symptoms in patients with amyotrophic lateral sclerosis. Amyotrophic lateral sclerosis & frontotemporal degeneration 2024 8 1-11. Sara Simão, Miguel Oliveira Santos, Marta Gromicho, Isabel Pavão Martins, Mamede De Carval |
| Body mass index is lower in asymptomatic C9orf72 expansion carriers but not in SOD1 pathogenic variant carriers compared to gene negatives. Amyotrophic lateral sclerosis & frontotemporal degeneration 2024 8 1-8. Ikjae Lee, Mark A Garret, Joanne Wuu, Elizabeth A Harrington, James D Berry, Timothy M Miller, Matthew Harms, Michael Benatar, Neil Shneid |
| Factors associated with Edinburgh Cognitive and Behavioural ALS Screen (ECAS) alteration at time of diagnosis, in amyotrophic lateral sclerosis. Clinical neurology and neurosurgery 2024 8 245 108499. Federica Ginanneschi, Barbara Pucci, Stefania Casali, Cristina Lissandri, Fabio Giannini, Alessandro Ros |
| Increased copy-number variant load of associated risk genes in sporadic cases of amyotrophic lateral sclerosis. Cellular and molecular life sciences : CMLS 2024 7 81 (1): 316. Maria Guarnaccia, Giovanna Morello, Valentina La Cognata, Vincenzo La Bella, Francesca Luisa Conforti, Sebastiano Cavalla |
| Genetic Landscape of Amyotrophic Lateral Sclerosis in Czech Patients. Journal of neuromuscular diseases 2024 7 . Daniel Baumgartner, Zuzana Mušová, Jana Zídková, Petra Hedvi?áková, Eva Vl?ková, Lubica Joppeková, Tereza Kramá?ová, Lenka Fajkusová, Viktor Stránecký, Jan Geryk, Pavel Votýpka, Radim Mazan |
| TARDBP Mutations in Facial-Onset Sensory and Motor Neuronopathy. Neurology. Genetics 2024 6 10 (3): e200160. Vincent Picher-Martel, Suma Babu, Anthony A Ama |
| Progressive Cerebrocerebellar Uncoupling in Sporadic and Genetic Forms of Amyotrophic Lateral Sclerosis. Neurology 2024 6 103 (2): e209623. Marlene Tahedl, Ee Ling Tan, Jana Kleinerova, Siobhan Delaney, Jennifer C Hengeveld, Mark A Doherty, Russell L Mclaughlin, Pierre-Francois Pradat, Cédric Raoul, Fabrice Ango, Orla Hardiman, Kai Ming Chang, Jasmin Lope, Peter Be |
| Clinical and genetic characteristics of 1672 cases of amyotrophic lateral sclerosis in China: a single-center retrospective study. Journal of neurology 2024 6 . Dongchao Shen, Xunzhe Yang, Di He, Kang Zhang, Shuangwu Liu, Xiaohan Sun, Jinyue Li, Zhengyi Cai, Mingsheng Liu, Xue Zhang, Qing Liu, Liying C |
| Amyotrophic lateral sclerosis patients with various gene mutations show diverse motor phenotypes and survival in China. Journal of medical genetics 2024 6 . Qirui Jiang, Junyu Lin, Qianqian Wei, Tianmi Yang, Yanbing Hou, Lingyu Zhang, Ruwei Ou, Yi Xiao, Shichan Wang, Xiaoting Zheng, Chunyu Li, Huifang Sha |
| Investigating Repeat Expansions in NIPA1, NOP56, and NOTCH2NLC Genes: A Closer Look at Amyotrophic Lateral Sclerosis Patients from Southern Italy. Cells 2024 4 13 (8): . Paola Ruffo, Francesca De Amicis, Vincenzo La Bella, Francesca Luisa Confor |
| Motor band sign is specific for amyotrophic lateral sclerosis and corresponds to motor symptoms. Annals of clinical and translational neurology 2024 4 . Charlotte Zejlon, Stefan Sennfält, Johannes Finnsson, Bryan Connolly, Sven Petersson, Tobias Granberg, Caroline Ing |
| Longitudinal Magnetic Resonance Imaging in Asymptomatic C9orf72 Mutation Carriers Distinguishes Phenoconverters to Amyotrophic Lateral Sclerosis or Amyotrophic Lateral Sclerosis With Frontotemporal Dementia. Annals of neurology 2024 11 . Kevin van Veenhuijzen, Harold H G Tan, Abram D Nitert, Michael A van Es, Jan H Veldink, Leonard H van den Berg, Henk-Jan Westene |
| Beyond C9orf72: repeat expansions and copy number variations as risk factors of amyotrophic lateral sclerosis across various populations. BMC medical genomics 2024 1 17 (1): 30. Zsófia Flóra Nagy, Margit Pál, József I Engelhardt, Mária Judit Molnár, Péter Klivényi, Márta Szé |
- Page last reviewed:Feb 1, 2024
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