| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Carlo Wilke, Jörn K Pomper, Saskia Biskup, Cornelia Puskás, Daniela Berg, Matthis Synofzi. Atypical parkinsonism in C9orf72 expansions: a case report and systematic review of 45 cases from the literature. Journal of neurology. vol 263. issue 3. 2016-12-13. PMID:26810719. |
while c9orf72 repeat expansions usually present with frontotemporal dementia (ftd) and/or amyotrophic lateral sclerosis (als), an increasing number of reports suggests that the primary phenotype of c9orf72 patients may also include movement disorders. |
2016-12-13 |
2023-08-13 |
Not clear |
| Maria Rosário Almeida, Liliana Letra, Paula Pires, Ana Santos, Olinda Rebelo, Rita Guerreiro, Julie van der Zee, Christine Van Broeckhoven, Isabel Santan. Characterization of an FTLD-PDB family with the coexistence of SQSTM1 mutation and hexanucleotide (G₄C₂) repeat expansion in C9orf72 gene. Neurobiology of aging. vol 40. 2016-12-13. PMID:26839080. |
the c9orf72 expansion is considered a major genetic cause of familial frontotemporal dementia (ftd) in several patients' cohorts. |
2016-12-13 |
2023-08-13 |
Not clear |
| Tatiana Itzcovich, Zhengrui Xi, Horacio Martinetto, Patricio Chrem-Méndez, María Julieta Russo, Bruno de Ambrosi, Osvaldo D Uchitel, Martín Nogués, Emanuel Silva, Galeno Rojas, Pablo Bagnatti, Alejandra Amengual, Jorge Campos, Ekaterina Rogaeva, Peter St George-Hyslop, Ricardo Allegri, Gustavo Sevlever, Ezequiel I Surac. Analysis of C9orf72 in patients with frontotemporal dementia and amyotrophic lateral sclerosis from Argentina. Neurobiology of aging. vol 40. 2016-12-13. PMID:26925510. |
analysis of c9orf72 in patients with frontotemporal dementia and amyotrophic lateral sclerosis from argentina. |
2016-12-13 |
2023-08-13 |
Not clear |
| Tatiana Itzcovich, Zhengrui Xi, Horacio Martinetto, Patricio Chrem-Méndez, María Julieta Russo, Bruno de Ambrosi, Osvaldo D Uchitel, Martín Nogués, Emanuel Silva, Galeno Rojas, Pablo Bagnatti, Alejandra Amengual, Jorge Campos, Ekaterina Rogaeva, Peter St George-Hyslop, Ricardo Allegri, Gustavo Sevlever, Ezequiel I Surac. Analysis of C9orf72 in patients with frontotemporal dementia and amyotrophic lateral sclerosis from Argentina. Neurobiology of aging. vol 40. 2016-12-13. PMID:26925510. |
pathologic expansion of the g4c2 repeat in c9orf72 is the main genetic cause of frontotemporal dementia (ftd) and amyotrophic lateral sclerosis (als). |
2016-12-13 |
2023-08-13 |
Not clear |
| Dieter Edbauer, Christian Haas. An amyloid-like cascade hypothesis for C9orf72 ALS/FTD. Current opinion in neurobiology. vol 36. 2016-11-01. PMID:26555807. |
expansion of a ggggcc repeat in c9orf72 causes amyotrophic lateral sclerosis, frontotemporal dementia, or a combination of both. |
2016-11-01 |
2023-08-13 |
Not clear |
| Miao He, Wei-Qian Yan, Sheng Zeng, Zhen Liu, Yao Zhou, Xian-Feng Zeng, Jun-Sheng Zeng, Hong Jiang, Lu Shen, Bei-Sha Tang, Jun-Ling Wan. C9ORF72 repeat expansion is not detected in sporadic ataxia patients in mainland China. Journal of the neurological sciences. vol 361. 2016-10-20. PMID:26810537. |
expansion of a ggggcc hexanucleotide repeat in the gene c9orf72 is a common pathogenic mutation in families with autosomal dominant frontotemporal dementia (ftd) and amyotrophic lateral sclerosis (als). |
2016-10-20 |
2023-08-13 |
Not clear |
| Bo Zhou, Changdong Liu, Yanyan Geng, Guang Zh. Topology of a G-quadruplex DNA formed by C9orf72 hexanucleotide repeats associated with ALS and FTD. Scientific reports. vol 5. 2016-10-14. PMID:26564809. |
abnormal expansions of an intronic hexanucleotide ggggcc (g4c2) repeat of the c9orf72 gene are the most common genetic cause of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2016-10-14 |
2023-08-13 |
Not clear |
| Michael Niblock, Bradley N Smith, Youn-Bok Lee, Valentina Sardone, Simon Topp, Claire Troakes, Safa Al-Sarraj, Claire S Leblond, Patrick A Dion, Guy A Rouleau, Christopher E Shaw, Jean-Marc Gall. Retention of hexanucleotide repeat-containing intron in C9orf72 mRNA: implications for the pathogenesis of ALS/FTD. Acta neuropathologica communications. vol 4. 2016-10-14. PMID:26916632. |
the most common forms of amyotrophic lateral sclerosis and frontotemporal dementia are caused by a large ggggcc repeat expansion in the first intron of the c9orf72 gene. |
2016-10-14 |
2023-08-13 |
Not clear |
| Patrizia Rizzu, Cornelis Blauwendraat, Sasja Heetveld, Emily M Lynes, Melissa Castillo-Lizardo, Ashutosh Dhingra, Elwira Pyz, Markus Hobert, Matthis Synofzik, Javier Simón-Sánchez, Margherita Francescatto, Peter Heutin. C9orf72 is differentially expressed in the central nervous system and myeloid cells and consistently reduced in C9orf72, MAPT and GRN mutation carriers. Acta neuropathologica communications. vol 4. issue 1. 2016-09-23. PMID:27079381. |
a non-coding hexanucleotide repeat expansion (hre) in c9orf72 is a common cause of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd) acting through a loss of function mechanism due to haploinsufficiency of c9orf72 or a gain of function mediated by aggregates of bidirectionally transcribed hre-rnas translated into di-peptide repeat (dpr) proteins. |
2016-09-23 |
2023-08-13 |
Not clear |
| Annie Watson, Mochtar Pribadi, Kodavali Chowdari, Sue Clifton, Joel Wood, Bruce L Miller, Giovanni Coppola, Vishwajit Nimgaonka. C9orf72 repeat expansions that cause frontotemporal dementia are detectable among patients with psychosis. Psychiatry research. vol 235. 2016-09-19. PMID:26723138. |
c9orf72 repeat expansions that cause frontotemporal dementia are detectable among patients with psychosis. |
2016-09-19 |
2023-08-13 |
human |
| Annie Watson, Mochtar Pribadi, Kodavali Chowdari, Sue Clifton, Joel Wood, Bruce L Miller, Giovanni Coppola, Vishwajit Nimgaonka. C9orf72 repeat expansions that cause frontotemporal dementia are detectable among patients with psychosis. Psychiatry research. vol 235. 2016-09-19. PMID:26723138. |
a pathologic hexanucleotide repeat expansion in c9orf72 causes frontotemporal dementia (ftd) or amyotrophic lateral sclerosis (als). |
2016-09-19 |
2023-08-13 |
human |
| James R Burrell, Glenda M Halliday, Jillian J Kril, Lars M Ittner, Jürgen Götz, Matthew C Kiernan, John R Hodge. The frontotemporal dementia-motor neuron disease continuum. Lancet (London, England). vol 388. issue 10047. 2016-09-19. PMID:26987909. |
frontotemporal dementia, motor neuron disease, and frontotemporal dementia-motor neuron disease are characterised by overlapping patterns of tar dna binding protein (tdp-43) pathology, while the chromosome 9 open reading frame 72 (c9orf72) repeat expansion is common across the disease spectrum. |
2016-09-19 |
2023-08-13 |
Not clear |
| b' Marc Su\\xc3\\xa1rez-Calvet, Valle Camacho, Beatriz G\\xc3\\xb3mez-Ans\\xc3\\xb3n, Sofia Ant\\xc3\\xb3n, Yolanda Vives-Gilabert, Oriol Dols-Icardo, Jordi Clarim\\xc3\\xb3n, Daniel Alcolea, Rafael Blesa, Juan Fortea, Alberto Lle\\xc3\\xb. Early Cerebellar Hypometabolism in Patients With Frontotemporal Dementia Carrying the C9orf72 Expansion. Alzheimer disease and associated disorders. vol 29. issue 4. 2016-09-12. PMID:25203513.' |
early cerebellar hypometabolism in patients with frontotemporal dementia carrying the c9orf72 expansion. |
2016-09-12 |
2023-08-13 |
Not clear |
| Jiaxin Hu, Jing Liu, Liande Li, Keith T Gagnon, David R Core. Engineering Duplex RNAs for Challenging Targets: Recognition of GGGGCC/CCCCGG Repeats at the ALS/FTD C9orf72 Locus. Chemistry & biology. vol 22. issue 11. 2016-09-07. PMID:26584779. |
a ggggcc expansion within an intronic region of the c9orf72 gene forms rna foci that are associated with one-third of familial amyotrophic lateral sclerosis and one-quarter of frontotemporal dementia. |
2016-09-07 |
2023-08-13 |
human |
| Antonino Cannas, Paolo Solla, Giuseppe Borghero, Gian Luca Floris, Adriano Chio, Marcello Mario Mascia, Nicola Modugno, Antonella Muroni, Gianni Orofino, Francesca Di Stefano, Andrea Calvo, Cristina Moglia, Gabriella Restagno, Mario Meloni, Rita Farris, Daniela Ciaccio, Roberta Puddu, Melisa Iris Vacca, Rosanna Melis, Maria Rita Murru, Stefania Tranquilli, Daniela Corongiu, Marcella Rolesu, Stefania Cuccu, Maria Giovanna Marrosu, Francesco Marros. C9ORF72 intermediate repeat expansion in patients affected by atypical parkinsonian syndromes or Parkinson's disease complicated by psychosis or dementia in a Sardinian population. Journal of neurology. vol 262. issue 11. 2016-09-06. PMID:26275564. |
the hexanucleotide repeat expansion ggggcc in the c9orf72 gene larger than 30 repeats has been identified as a major genetic cause of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2016-09-06 |
2023-08-13 |
human |
| Nicholas J Kramer, Yari Carlomagno, Yong-Jie Zhang, Sandra Almeida, Casey N Cook, Tania F Gendron, Mercedes Prudencio, Marka Van Blitterswijk, Veronique Belzil, Julien Couthouis, Joseph West Paul, Lindsey D Goodman, Lillian Daughrity, Jeannie Chew, Aliesha Garrett, Luc Pregent, Karen Jansen-West, Lilia J Tabassian, Rosa Rademakers, Kevin Boylan, Neill R Graff-Radford, Keith A Josephs, Joseph E Parisi, David S Knopman, Ronald C Petersen, Bradley F Boeve, Ning Deng, Yanan Feng, Tzu-Hao Cheng, Dennis W Dickson, Stanley N Cohen, Nancy M Bonini, Christopher D Link, Fen-Biao Gao, Leonard Petrucelli, Aaron D Gitle. Spt4 selectively regulates the expression of C9orf72 sense and antisense mutant transcripts. Science (New York, N.Y.). vol 353. issue 6300. 2016-09-02. PMID:27516603. |
an expanded hexanucleotide repeat in c9orf72 causes amyotrophic lateral sclerosis and frontotemporal dementia (c9ftd/als). |
2016-09-02 |
2023-08-13 |
human |
| Julie S Snowden, Jennifer Adams, Jennifer Harris, Jennifer C Thompson, Sara Rollinson, Anna Richardson, Matthew Jones, David Neary, David M Mann, Stuart Pickering-Brow. Distinct clinical and pathological phenotypes in frontotemporal dementia associated with MAPT, PGRN and C9orf72 mutations. Amyotrophic lateral sclerosis & frontotemporal degeneration. vol 16. issue 7-8. 2016-08-31. PMID:26473392. |
distinct clinical and pathological phenotypes in frontotemporal dementia associated with mapt, pgrn and c9orf72 mutations. |
2016-08-31 |
2023-08-13 |
Not clear |
| Julie S Snowden, Jennifer Adams, Jennifer Harris, Jennifer C Thompson, Sara Rollinson, Anna Richardson, Matthew Jones, David Neary, David M Mann, Stuart Pickering-Brow. Distinct clinical and pathological phenotypes in frontotemporal dementia associated with MAPT, PGRN and C9orf72 mutations. Amyotrophic lateral sclerosis & frontotemporal degeneration. vol 16. issue 7-8. 2016-08-31. PMID:26473392. |
our objective was to compare the clinical and pathological characteristics of frontotemporal dementia patients with mapt, grn and c9orf72 gene mutations. |
2016-08-31 |
2023-08-13 |
Not clear |
| Ian R A Mackenzie, Petra Frick, Friedrich A Grässer, Tania F Gendron, Leonard Petrucelli, Neil R Cashman, Dieter Edbauer, Elisabeth Kremmer, Johannes Prudlo, Dirk Troost, Manuela Neuman. Quantitative analysis and clinico-pathological correlations of different dipeptide repeat protein pathologies in C9ORF72 mutation carriers. Acta neuropathologica. vol 130. issue 6. 2016-08-24. PMID:26374446. |
hexanucleotide repeat expansion in c9orf72 is the most common genetic cause of frontotemporal dementia and motor neuron disease. |
2016-08-24 |
2023-08-13 |
Not clear |
| David W Dodd, Diana R Tomchick, David R Corey, Keith T Gagno. Pathogenic C9ORF72 Antisense Repeat RNA Forms a Double Helix with Tandem C:C Mismatches. Biochemistry. vol 55. issue 9. 2016-07-28. PMID:26878348. |
expansion of a ggggcc/ccccgg repeat sequence in the first intron of the c9orf72 gene is a leading cause of frontotemporal dementia (ftd) and amyotrophic lateral sclerosis (als). |
2016-07-28 |
2023-08-13 |
Not clear |