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| Semantic variant primary progressive aphasia with a pathogenic variant p.Asp40Gly in the ANXA11 gene. European journal of neurology 2022 Oct 29 (10): 3124-3126. Kim Eun-Joo, Moon So Young, Kim Hee-Jin, Jung Na-Yeon, Lee Sun Min, Kim Young E |
| APOE Alleles With Tau and A? Pathology In Patients With Amyotrophic Lateral Sclerosis and Parkinsonism-Dementia Complex in the Kii Peninsula. Neurology 2022 Sep . Sasaki Ryogen, Morimoto Satoru, Ozawa Fumiko, Okano Hideyuki, Yoshida Mari, Ishiura Hiroyuki, Tsuji Shoji, Kuzuhara Shigeki, Kokubo Yasuma |
| The associations between plasma soluble Trem1 and neurological diseases: a Mendelian randomization study. Journal of neuroinflammation 2022 Sep 19 (1): 218. Shi Xiaolei, Wei Tao, Hu Yachun, Wang Meng, Tang |
| CYLD variants identified in Alzheimer's disease and frontotemporal dementia patients. Annals of clinical and translational neurology 2022 Aug . Xiao Xuewen, Xu Tianyan, Liu Hui, Liu Xixi, Liao Xinxin, Zhou Yafang, Zhou Lu, Wang Xin, Zhu Yuan, Yang Qijie, Hao Xiaoli, Liu Yingzi, Jiang Hong, Guo Jifeng, Wang Junling, Tang Beisha, Li Jinchen, Shen Lu, Jiao B |
| 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 |
| NEK1 and STMN2 short tandem repeat lengths are not associated with Australian amyotrophic lateral sclerosis risk. Neurobiology of aging 2022 Aug 116 92-95. Grima Natalie, Henden Lyndal, Fearnley Liam G, Rowe Dominic B, D'Silva Susan, Pamphlett Roger, Adams Lorel, Kiernan Matthew C, Mazumder Srestha, Timmins Hannah C, Zoing Margaret, Bahlo Melanie, Blair Ian P, Williams Kelly |
| Re-analysis of the Hungarian amyotrophic lateral sclerosis population and evaluation of novel ALS genetic risk variants. Neurobiology of aging 2022 Aug 116 1-11. Nagy Zsófia Flóra, Pál Margit, Salamon András, Kafui Esi Zodanu Gloria, Füstös Dalma, Klivényi Péter, Széll Már |
| Selecting Genetic Variants and Interactions Associated with Amyotrophic Lateral Sclerosis: A Group LASSO Approach. Journal of personalized medicine 2022 Aug 12 (8): . Feronato Sofia Galvão, Silva Maria Luiza Matos, Izbicki Rafael, Farias Ticiana D J, Shigunov Patrícia, Dallagiovanna Bruno, Passetti Fabio, Dos Santos Hellen Geremi |
| Amyotrophic lateral sclerosis and cerebellum. Scientific reports 2022 Jul 12 (1): 12586. Kabiljo Renata, Iacoangeli Alfredo, Al-Chalabi Ammar, Rosenzweig Iva |
| Analysis of Amyotrophic lateral sclerosis & frontotemporal degeneration 2022 Jul 1-3. Doronzio Paolo Niccolò, Lattante Serena, Marangi Giuseppe, Martello Francesco, Conte Amelia, Bisogni Giulia, Bernardo Daniela, Patanella Agata Katia, Meleo Emiliana, Zollino Marcella, Sabatelli Mar |
| Frequency of Parkinson's Disease Genes and Role of Genes 2022 Jul 13 (8): . Vacchiano Veria, Bartoletti-Stella Anna, Rizzo Giovanni, Avoni Patrizia, Parchi Piero, Salvi Fabrizio, Liguori Rocco, Capellari Sabi |
| Sarm1 knockout modifies biomarkers of neurodegeneration and spinal cord circuitry but not disease progression in the mSOD1 Neurobiology of disease 2022 Jul 172 105821. Collins Jessica M, Atkinson Rachel A K, Matthews Lyzette M, Murray Isabella C, Perry Sharn E, King Anna |
| Study of Alzheimer's disease- and frontotemporal dementia-associated genes in the Cretan Aging Cohort. Neurobiology of aging 2022 Jul . Mathioudakis Lambros, Dimovasili Christina, Bourbouli Mara, Latsoudis Helen, Kokosali Evgenia, Gouna Garyfallia, Vogiatzi Emmanouella, Basta Maria, Kapetanaki Stefania, Panagiotakis Simeon, Kanterakis Alexandros, Boumpas Dimitrios, Lionis Christos, Plaitakis Andreas, Simos Panagiotis, Vgontzas Alexandros, Kafetzopoulos Dimitrios, Zaganas Ioann |
| Systematic evaluation of genetic mutations in ALS: a population-based study. Journal of neurology, neurosurgery, and psychiatry 2022 Jul . Grassano Maurizio, Calvo Andrea, Moglia Cristina, Sbaiz Luca, Brunetti Maura, Barberis Marco, Casale Federico, Manera Umberto, Vasta Rosario, Canosa Antonio, D'Alfonso Sandra, Corrado Lucia, Mazzini Letizia, Dalgard Clifton, Karra Ramita, Chia Ruth, Traynor Bryan, Chiò Adria |
| A strong association between VEGF-A rs28357093 and amyotrophic lateral sclerosis: a brazilian genetic study. Molecular biology reports 2022 Jun . da Costa Caroline Christine Pincela, de Lima Nayane Soares, da Cruz Pereira Bento Dhiogo, da Silva Santos Rodrigo, da Silva Reis Angela Adams |
| Targeted copy number variant identification across the neurodegenerative disease spectrum. Molecular genetics & genomic medicine 2022 Jun e1986. Dilliott Allison A, Zhang Kristina K, Wang Jian, Abrahao Agessandro, Binns Malcolm A, Black Sandra E, Borrie Michael, Dowlatshahi Dar, Finger Elizabeth, Fischer Corinne E, Frank Andrew, Freedman Morris, Grimes David, Hassan Ayman, Jog Mandar, Kumar Sanjeev, Lang Anthony E, Mandzia Jennifer, Masellis Mario, Pasternak Stephen H, Pollock Bruce G, Rajji Tarek K, Rogaeva Ekaterina, Sahlas Demetrios J, Saposnik Gustavo, Sato Christine, Seitz Dallas, Shoesmith Christen, Steeves Thomas D L, Swartz Richard H, Tan Brian, Tang-Wai David F, Tartaglia Maria C, Turnbull John, Zinman Lorne, , Hegele Robert |
| Mutation Screening of TFG in ?-Synucleinopathy and Amyotrophic Lateral Sclerosis. Movement disorders : official journal of the Movement Disorder Society 2022 May . Li Chunyu, Lin Junyu, Gu Xiaojing, Hou Yanbing, Liu Kuncheng, Jiang Qirui, Ou Ruwei, Wei Qianqian, Chen Xueping, Song Wei, Zhao Bi, Wu Ying, Chen Yongping, Shang Huifa |
| Genetic Variability of Inflammation and Oxidative Stress Genes Affects Onset, Progression of the Disease and Survival of Patients with Amyotrophic Lateral Sclerosis. Genes 2022 Apr 13 (5): . Ravnik-Glava? Metka, Gori?ar Katja, Vogrinc David, Koritnik Blaž, Lavren?i? Jakob Gašper, Glava? Damjan, Dolžan Vi |
| Lack of an association between SCFD1 rs10139154 polymorphism and amyotrophic lateral sclerosis. Molecular medicine reports 2022 Apr 25 (4): . Siokas Vasileios, Aloizou Athina-Maria, Liampas Ioannis, Bakirtzis Christos, Nasios Grigorios, Paterakis Konstantinos, Sgantzos Markos, Bogdanos Dimitrios P, Spandidos Demetrios A, Tsatsakis Aristidis, Mitsias Panayiotis D, Dardiotis Efthimi |
| Genotype-phenotype association of TARDBP mutations in Chinese patients with amyotrophic lateral sclerosis: a single-center study and systematic review of published literature. Journal of neurology 2022 Mar . Li Jinyue, Liu Qing, Sun Xiaohan, Zhang Kang, Liu Shuangwu, Wang Zhili, Yang Xunzhe, Liu Mingsheng, Cui Liying, Zhang X |
| Survival analysis of clinical and genetic factors in an amyotrophic lateral sclerosis cohort from China. Neurological research 2022 Feb 1-8. Cai Zhengyi, Liu Qing, Liu Mingsheng, Yang Xunzhe, Shen Dongchao, Sun Xiaohan, He Di, Zhang Kang, Shang Liang, Zhang Xue, Cui Liyi |
| A polymorphic transcriptional regulatory domain in the amyotrophic lateral sclerosis risk gene Frontiers in molecular neuroscience 2022 15 954928. Marshall Jack N G, Fröhlich Alexander, Li Li, Pfaff Abigail L, Middlehurst Ben, Spargo Thomas P, Iacoangeli Alfredo, Lang Bing, Al-Chalabi Ammar, Koks Sulev, Bubb Vivien J, Quinn John |
| Exome Sequencing of a Portuguese Cohort of Frontotemporal Dementia Patients: Looking Into the ALS-FTD Continuum. Frontiers in neurology 2022 13 886379. Tábuas-Pereira Miguel, Santana Isabel, Gibbons Elizabeth, Paquette Kimberly, Almeida Maria Rosário, Baldeiras Inês, Bras Jose, Guerreiro Ri |
| Genetic analysis of and clinical characteristics associated with ANXA11 variants in a Chinese cohort with amyotrophic lateral sclerosis. Neurobiology of disease 2022 10 175 105907. Jiang Qirui, Lin Junyu, Wei Qianqian, Li Chunyu, Hou Yanbing, Cao Bei, Zhang Lingyu, Ou Ruwei, Liu Kuncheng, Yang Tianmi, Xiao Yi, Shang Huifa |
| Genetically predicted telomere length and its relationship with neurodegenerative diseases and life expectancy. Computational and structural biotechnology journal 2022 20 4251-4256. Rodríguez-Fernández Blanca, Gispert Juan Domingo, Guigo Roderic, Navarro Arcadi, Vilor-Tejedor Natalia, Crous-Bou Mar |
| Integrating functional genomics with genetics to understand the biology of ALS and FTD. Med (New York, N.Y.) 2022 04 3 (4): 226-227. Cruchaga Carl |
| Phenotype of VCP Mutations in Chinese Amyotrophic Lateral Sclerosis Patients. Frontiers in neurology 2022 2 13 790082. Feng Shu-Yan, Lin Han, Che Chun-Hui, Huang Hua-Pin, Liu Chang-Yun, Zou Zhang- |
| Sleep, Pain, and Neurodegeneration: A Mendelian Randomization Study. Frontiers in neurology 2022 13 765321. Grover Sandeep, Sharma Manu, |
| TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A. Nature 2022 2 603 (7899): 131-137. Brown Anna-Leigh, Wilkins Oscar G, Keuss Matthew J, Hill Sarah E, Zanovello Matteo, Lee Weaverly Colleen, Bampton Alexander, Lee Flora C Y, Masino Laura, Qi Yue A, Bryce-Smith Sam, Gatt Ariana, Hallegger Martina, Fagegaltier Delphine, Phatnani Hemali, , Newcombe Jia, Gustavsson Emil K, Seddighi Sahba, Reyes Joel F, Coon Steven L, Ramos Daniel, Schiavo Giampietro, Fisher Elizabeth M C, Raj Towfique, Secrier Maria, Lashley Tammaryn, Ule Jernej, Buratti Emanuele, Humphrey Jack, Ward Michael E, Fratta Piet |
| TDP-43 represses cryptic exon inclusion in the FTD-ALS gene UNC13A. Nature 2022 2 603 (7899): 124-130. Ma X Rosa, Prudencio Mercedes, Koike Yuka, Vatsavayai Sarat C, Kim Garam, Harbinski Fred, Briner Adam, Rodriguez Caitlin M, Guo Caiwei, Akiyama Tetsuya, Schmidt H Broder, Cummings Beryl B, Wyatt David W, Kurylo Katherine, Miller Georgiana, Mekhoubad Shila, Sallee Nathan, Mekonnen Gemechu, Ganser Laura, Rubien Jack D, Jansen-West Karen, Cook Casey N, Pickles Sarah, Oskarsson Björn, Graff-Radford Neill R, Boeve Bradley F, Knopman David S, Petersen Ronald C, Dickson Dennis W, Shorter James, Myong Sua, Green Eric M, Seeley William W, Petrucelli Leonard, Gitler Aaron |
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- Page last updated:Feb 01, 2023
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