Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 289 Records) |
Query Trace: Amyotrophic Lateral Sclerosis and C9orf72[original query] |
---|
Genotype-phenotype correlation in Tunisian patients with Amyotrophic Lateral Sclerosis. Neurobiology of aging 2022 Aug 120 27-33. Kacem Imen, Sghaier Ikram, Peverelli Silvia, Souissi Emira, Ticozzi Nicola, Gharbi Alya, Ratti Antonia, Berrechid Amina Gargouri, Silani Vincenzo, Gouider Ria |
Exploring the phenotype of Italian patients with ALS with intermediate ATXN2 polyQ repeats. Journal of neurology, neurosurgery, and psychiatry 2022 8 93 (11): 1216-20. Chio Adriano, Moglia Cristina, Canosa Antonio, Manera Umberto, Grassano Maurizio, Vasta Rosario, Palumbo Francesca, Gallone Salvatore, Brunetti Maura, Barberis Marco, De Marchi Fabiola, Dalgard Clifton, Chia Ruth, Mora Gabriele, Iazzolino Barbara, Peotta Laura, Traynor Bryan, Corrado Lucia, D'Alfonso Sandra, Mazzini Letizia, Calvo Andr |
Analysis of SOD1 and C9orf72 mutations in patients with amyotrophic lateral sclerosis in Antioquia, Colombia. Biomedica : revista del Instituto Nacional de Salud 2022 12 42 (4): 623-632. Jaramillo Jimena, Solano Juan M, Aristizábal Alejandra, Martínez Julia |
Mutation spectrum of chinese amyotrophic lateral sclerosis patients with frontotemporal dementia. Orphanet journal of rare diseases 2022 11 17 (1): 404. Yang Xunzhe, Sun Xiaohai, Liu Qing, Liu Liyang, Li Jinyue, Cai Zhengyi, Zhang Kang, Liu Shuangwu, He Di, Shen Dongchao, Liu Mingsheng, Cui Liying, Zhang X |
Genetic Screening in Korean Patients with Frontotemporal Dementia Syndrome. Journal of Alzheimer's disease reports 2022 11 6 (1): 651-662. Kim Eun-Joo, Na Duk L, Kim Hee-Jin, Park Kyung Won, Lee Jae-Hong, Roh Jee Hoon, Kwon Jay C, Yoon Soo Jin, Jung Na-Yeon, Jeong Jee Hyang, Jang Jae-Won, Kim Hee-Jin, Park Kee Hyung, Choi Seong Hye, Kim SangYun, Park Young Ho, Kim Byeong C, Youn Young Chul, Ki Chang-Seok, Kim Seung Hyun, Seo Sang Won, Kim Young-E |
Clinical and Metabolic Signature of UNC13A rs12608932 Variant in Amyotrophic Lateral Sclerosis. Neurology. Genetics 2022 10 8 (6): e200033. Calvo Andrea, Canosa Antonio, Moglia Cristina, Manera Umberto, Grassano Maurizio, Vasta Rosario, Palumbo Francesca, Cugnasco Paolo, Gallone Salvatore, Brunetti Maura, De Marchi Fabiola, Arena Vincenzo, Pagani Marco, Dalgard Clifton, Scholz Sonja W, Chia Ruth, Corrado Lucia, Dalfonso Sandra, Mazzini Letizia, Traynor Bryan J, Chio Adria |
MicroRNA signatures in genetic frontotemporal dementia and amyotrophic lateral sclerosis. Annals of clinical and translational neurology 2022 10 9 (11): 1778-1791. Kmetzsch Virgilio, Latouche Morwena, Saracino Dario, Rinaldi Daisy, Camuzat Agnès, Gareau Thomas, , Le Ber Isabelle, Colliot Olivier, Becker Emmanuel |
Expanding the spectrum of C9ORF72-related neurodegenerative disorders in the Greek population. Journal of the neurological sciences 2022 10 442 120450. Kartanou Chrisoula, Kontogeorgiou Zoi, Rentzos Michail, Potagas Constantin, Aristeidou Stavroula, Kapaki Elisabeth, Paraskevas George P, Constantinides Vasilios C, Stefanis Leonidas, Papageorgiou Sokratis G, Houlden Henry, Panas Marios, Koutsis Georgios, Karadima Georg |
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 |
Risk factors of amyotrophic lateral sclerosis: a global meta-summary. Frontiers in neuroscience 2023 5 17 1177431. Qing-Qing Duan, Zheng Jiang, Wei-Ming Su, Xiao-Jing Gu, Han Wang, Yang-Fan Cheng, Bei Cao, Xia Gao, Yi Wang, Yong-Ping Ch |
Clinical and genetic features of amyotrophic lateral sclerosis patients with C9orf72 mutations. Brain communications 2023 4 5 (2): fcad087. Wiesenfarth Maximilian, Günther Kornelia, Müller Kathrin, Witzel Simon, Weiland Ulrike, Mayer Kristina, Herrmann Christine, Brenner David, Schuster Joachim, Freischmidt Axel, Lulé Dorothée, Meyer Thomas, Regensburger Martin, Grehl Torsten, Emmer Alexander, Petri Susanne, Großkreutz Julian, Rödiger Annekathrin, Steinbach Robert, Klopstock Thomas, Reilich Peter, Schöberl Florian, Wolf Joachim, Hagenacker Tim, Weyen Ute, Zeller Daniel, Ludolph Albert C, Dorst Johann |
Genetic variability in sporadic amyotrophic lateral sclerosis. Brain : a journal of neurology 2023 4 . Van Daele Sien Hilde, Moisse Matthieu, van Vugt Joke J F A, Zwamborn Ramona A J, van der Spek Rick, van Rheenen Wouter, Van Eijk Kristel, Kenna Kevin, Corcia Philippe, Vourc'h Patrick, Couratier Philippe, Hardiman Orla, McLaughin Russell, Gotkine Marc, Drory Vivian, Ticozzi Nicola, Silani Vincenzo, Ratti Antonia, de Carvalho Mamede, Mora Pardina Jesús S, Povedano Monica, Andersen Peter M, Weber Markus, Ba?ak Nazli A, Shaw Chris, Shaw Pamela J, Morrison Karen E, Landers John E, Glass Jonathan D, van Es Michael, van den Berg Leonard H, Al-Chalabi Ammar, Veldink Jan, Van Damme Phil |
C9orf72 hexanucleotide repeat allele tagging SNPs: Associations with ALS risk and longevity. Frontiers in genetics 2023 3 14 1087098. Kaivola Karri, Pirinen Matti, Laaksovirta Hannu, Jansson Lilja, Rautila Osma, Launes Jyrki, Hokkanen Laura, Lahti Jari, Eriksson Johan G, Strandberg Timo E, FinnGen , Tienari Pentti |
NOTCH2NLC GGC repeats are not expanded in Italian amyotrophic lateral sclerosis patients. Scientific reports 2023 2 13 (1): 3187. Manini Arianna, Gagliardi Delia, Meneri Megi, Antognozzi Sara, Del Bo Roberto, Comi Giacomo Pietro, Corti Stefania, Ronchi Dar |
Association of the risk factor UNC13A with survival and upper motor neuron involvement in amyotrophic lateral sclerosis. Frontiers in aging neuroscience 2023 2 15 1067954. Manini Arianna, Casiraghi Valeria, Brusati Alberto, Maranzano Alessio, Gentile Francesco, Colombo Eleonora, Bonetti Ruggero, Peverelli Silvia, Invernizzi Sabrina, Gentilini Davide, Messina Stefano, Verde Federico, Poletti Barbara, Fogh Isabella, Morelli Claudia, Silani Vincenzo, Ratti Antonia, Ticozzi Nico |
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 |
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 |
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
- Page last updated:Apr 29, 2024
- Content source: