Human Genome Epidemiology Literature Finder
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Records 1 - 28 (of 28 Records) |
| Query Trace: Neurodegenerative Diseases and C9orf72[original query] |
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| Investigation of c9orf72 in 4 neurodegenerative disorders. Archives of neurology 2012 Dec 69 (12): 1583-90. Xi Zhengrui, Zinman Lorne, Grinberg Yakov, Moreno Danielle, Sato Christine, Bilbao Juan M, Ghani Mahdi, Hernández Isabel, Ruiz Agustín, Boada Mercè, Morón Francisco J, Lang Anthony E, Marras Connie, Bruni Amalia, Colao Rosanna, Maletta Raffaele G, Puccio Gianfranco, Rainero Innocenzo, Pinessi Lorenzo, Galimberti Daniela, Morrison Karen E, Moorby Catriona, Stockton Joanne D, Masellis Mario, Black Sandra E, Hazrati Lili-Naz, Liang Yan, van Haersma de With Jan, Fornazzari Luis, Villagra Roque, Rojas-Garcia Ricardo, Clarimón Jordi, Mayeux Richard, Robertson Janice, St George-Hyslop Peter, Rogaeva Ekateri |
| Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. The Lancet. Neurology 2012 Apr 11 (4): 323-30. Majounie Elisa, Renton Alan E, Mok Kin, Dopper Elise G P, Waite Adrian, Rollinson Sara, Chiò Adriano, Restagno Gabriella, Nicolaou Nayia, Simon-Sanchez Javier, van Swieten John C, Abramzon Yevgeniya, Johnson Janel O, Sendtner Michael, Pamphlett Roger, Orrell Richard W, Mead Simon, Sidle Katie C, Houlden Henry, Rohrer Jonathan D, Morrison Karen E, Pall Hardev, Talbot Kevin, Ansorge Olaf, , , , Hernandez Dena G, Arepalli Sampath, Sabatelli Mario, Mora Gabriele, Corbo Massimo, Giannini Fabio, Calvo Andrea, Englund Elisabet, Borghero Giuseppe, Floris Gian Luca, Remes Anne M, Laaksovirta Hannu, McCluskey Leo, Trojanowski John Q, Van Deerlin Vivianna M, Schellenberg Gerard D, Nalls Michael A, Drory Vivian E, Lu Chin-Song, Yeh Tu-Hsueh, Ishiura Hiroyuki, Takahashi Yuji, Tsuji Shoji, Le Ber Isabelle, Brice Alexis, Drepper Carsten, Williams Nigel, Kirby Janine, Shaw Pamela, Hardy John, Tienari Pentti J, Heutink Peter, Morris Huw R, Pickering-Brown Stuart, Traynor Bryan |
| C9ORF72 repeat expansions in cases with previously identified pathogenic mutations. Neurology 2013 Oct 81 (15): 1332-41. van Blitterswijk Marka, Baker Matthew C, DeJesus-Hernandez Mariely, Ghidoni Roberta, Benussi Luisa, Finger Elizabeth, Hsiung Ging-Yuek R, Kelley Brendan J, Murray Melissa E, Rutherford Nicola J, Brown Patricia E, Ravenscroft Thomas, Mullen Bianca, Ash Peter E A, Bieniek Kevin F, Hatanpaa Kimmo J, Karydas Anna, Wood Elisabeth McCarty, Coppola Giovanni, Bigio Eileen H, Lippa Carol, Strong Michael J, Beach Thomas G, Knopman David S, Huey Edward D, Mesulam Marsel, Bird Thomas, White Charles L, Kertesz Andrew, Geschwind Dan H, Van Deerlin Vivianna M, Petersen Ronald C, Binetti Giuliano, Miller Bruce L, Petrucelli Leonard, Wszolek Zbigniew K, Boylan Kevin B, Graff-Radford Neill R, Mackenzie Ian R, Boeve Bradley F, Dickson Dennis W, Rademakers Ro |
| Aggregation of neurologic and neuropsychiatric disease in amyotrophic lateral sclerosis kindreds: a population-based case-control cohort study of familial and sporadic amyotrophic lateral sclerosis. Annals of neurology 2013 Nov 74 (5): 699-708. Byrne Susan, Heverin Mark, Elamin Marwa, Bede Peter, Lynch Catherine, Kenna Kevin, MacLaughlin Russell, Walsh Cathal, Al Chalabi Ammar, Hardiman Or |
| C9orf72 hexanucleotide repeat expansion analysis in Chinese spastic paraplegia patients. Journal of the neurological sciences 2014 Dec 347 (1-2): 104-6. Luo Yingying, Jiao Bin, Wang Junling, Du Juan, Yan Xinxiang, Xia Kun, Tang Beisha, Shen |
| C9ORF72 hexanucleotide repeat expansion is a rare cause of schizophrenia. Neurobiology of aging 2014 May 35 (5): 1214.e7-1214.e10. Galimberti Daniela, Reif Andreas, Dell'osso Bernardo, Kittel-Schneider Sarah, Leonhard Christine, Herr Alexandra, Palazzo Carlotta, Villa Chiara, Fenoglio Chiara, Serpente Maria, Cioffi Sara M G, Prunas Cecilia, Paoli Riccardo A, Altamura A Carlo, Scarpini El |
| TMEM106B is a genetic modifier of frontotemporal lobar degeneration with C9orf72 hexanucleotide repeat expansions. Acta neuropathologica 2014 Mar 127 (3): 407-18. Gallagher Michael D, Suh Eunran, Grossman Murray, Elman Lauren, McCluskey Leo, Van Swieten John C, Al-Sarraj Safa, Neumann Manuela, Gelpi Ellen, Ghetti Bernardino, Rohrer Jonathan D, Halliday Glenda, Van Broeckhoven Christine, Seilhean Danielle, Shaw Pamela J, Frosch Matthew P, Alafuzoff Irina, Antonell Anna, Bogdanovic Nenad, Brooks William, Cairns Nigel J, Cooper-Knock Johnathan, Cotman Carl, Cras Patrick, Cruts Marc, De Deyn Peter P, DeCarli Charles, Dobson-Stone Carol, Engelborghs Sebastiaan, Fox Nick, Galasko Douglas, Gearing Marla, Gijselinck Ilse, Grafman Jordan, Hartikainen Päivi, Hatanpaa Kimmo J, Highley J Robin, Hodges John, Hulette Christine, Ince Paul G, Jin Lee-Way, Kirby Janine, Kofler Julia, Kril Jillian, Kwok John B J, Levey Allan, Lieberman Andrew, Llado Albert, Martin Jean-Jacques, Masliah Eliezer, McDermott Christopher J, McKee Ann, McLean Catriona, Mead Simon, Miller Carol A, Miller Josh, Munoz David G, Murrell Jill, Paulson Henry, Piguet Olivier, Rossor Martin, Sanchez-Valle Raquel, Sano Mary, Schneider Julie, Silbert Lisa C, Spina Salvatore, van der Zee Julie, Van Langenhove Tim, Warren Jason, Wharton Stephen B, White Charles L, Woltjer Randall L, Trojanowski John Q, Lee Virginia M Y, Van Deerlin Vivianna, Chen-Plotkin Alice |
| A genetic association study of two genes linked to neurodegeneration in a Sardinian multiple sclerosis population: the TARDBP Ala382Thr mutation and C9orf72 expansion. Journal of the neurological sciences 2015 Oct 357 (1-2): 229-34. Lorefice L, Murru , Fenu G, Corongiu D, Frau J, Cuccu S, Coghe G C, Tranquilli S, Cocco E, Marrosu M |
| Oligogenic inheritance of optineurin (OPTN) and C9ORF72 mutations in ALS highlights localisation of OPTN in the TDP-43-negative inclusions of C9ORF72-ALS. Neuropathology : official journal of the Japanese Society of Neuropathology 2015 Aug . Bury Joanna J, Highley J Robin, Cooper-Knock Johnathan, Goodall Emily F, Higginbottom Adrian, McDermott Christopher J, Ince Paul G, Shaw Pamela J, Kirby Jani |
| Pain and temperature processing in dementia: a clinical and neuroanatomical analysis. Brain : a journal of neurology 2015 Oct . Fletcher Phillip D, Downey Laura E, Golden Hannah L, Clark Camilla N, Slattery Catherine F, Paterson Ross W, Rohrer Jonathan D, Schott Jonathan M, Rossor Martin N, Warren Jason |
| Rare Variants in Neurodegeneration Associated Genes Revealed by Targeted Panel Sequencing in a German ALS Cohort. Frontiers in molecular neuroscience 2016 9 92. Krüger Stefanie, Battke Florian, Sprecher Andrea, Munz Marita, Synofzik Matthis, Schöls Ludger, Gasser Thomas, Grehl Torsten, Prudlo Johannes, Biskup Sask |
| A PCR-based protocol to accurately size C9orf72 intermediate-length alleles. Molecular and cellular probes 2016 Oct . Biasiotto Giorgio, Archetti Silvana, Di Lorenzo Diego, Merola Francesca, Paiardi Giulia, Borroni Barbara, Alberici Antonella, Padovani Alessandro, Filosto Massimiliano, Bonvicini Cristian, Caimi Luigi, Zanella Isabel |
| OPTN p.Met468Arg and ATXN2 intermediate length polyQ extension in families with C9orf72 mediated amyotrophic lateral sclerosis and frontotemporal dementia. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2017 10 177 (1): 75-85. Farhan Sali M K, Gendron Tania F, Petrucelli Leonard, Hegele Robert A, Strong Michael |
| The hippocampal longitudinal axis-relevance for underlying tau and TDP-43 pathology. Neurobiology of aging 2018 6 70 1-9. Lladó Albert, Tort-Merino Adrià, Sánchez-Valle Raquel, Falgàs Neus, Balasa Mircea, Bosch Beatriz, Castellví Magda, Olives Jaume, Antonell Anna, Hornberger Micha |
| Selective Genetic Overlap Between Amyotrophic Lateral Sclerosis and Diseases of the Frontotemporal Dementia Spectrum. JAMA neurology 2018 Jul 75 (7): 860-875. Karch Celeste M, Wen Natalie, Fan Chun C, Yokoyama Jennifer S, Kouri Naomi, Ross Owen A, Höglinger Gunter, Müller Ulrich, Ferrari Raffaele, Hardy John, Schellenberg Gerard D, Sleiman Patrick M, Momeni Parastoo, Hess Christopher P, Miller Bruce L, Sharma Manu, Van Deerlin Vivianna, Smeland Olav B, Andreassen Ole A, Dale Anders M, Desikan Rahul S, |
| The frequency of the C9orf72 expansion in a Brazilian population. Neurobiology of aging 2018 2 66 179.e1-179.e4. Cintra Vívian Pedigone, Bonadia Luciana Cardoso, Andrade Helen Maia T, de Albuquerque Milena, Eusébio Mayara Ferreira, de Oliveira Daniel Sabino, Claudino Rinaldo, Gonçalves Marcus Vinicius Magno, Teixeira Antônio Lúcio, de Godoy Rousseff Prado Laura, de Souza Leonardo Cruz, Dourado Mario Emilio Teixeira, Oliveira Acary Souza Bulle, Tumas Vitor, França Marcondes C, Marques Wils |
| Comprehensive Genetic Analysis of a Hungarian Amyotrophic Lateral Sclerosis Cohort. Frontiers in genetics 2019 10 732. Tripolszki Kornélia, Gampawar Piyush, Schmidt Helena, Nagy Zsófia F, Nagy Dóra, Klivényi Péter, Engelhardt József I, Széll Már |
| Role for ATXN1, ATXN2, and HTT intermediate repeats in frontotemporal dementia and Alzheimer's disease. Neurobiology of aging 2019 Nov . Rosas Irene, Martínez Carmen, Clarimón Jordi, Lleó Alberto, Illán-Gala Ignacio, Dols-Icardo Oriol, Borroni Barbara, Almeida Maria Rosário, van der Zee Julie, Van Broeckhoven Christine, Bruni Amalia C, Anfossi Maria, Bernardi Livia, Maletta Raffaele, Serpente María, Galimberti Daniela, Scarpini Elio, Rossi Giacomina, Caroppo Paola, Benussi Luisa, Ghidoni Roberta, Binetti Giuliano, Nacmias Benedetta, Sorbi Sandro, Piaceri Irene, Bagnoli Silvia, Antonell Anna, Sánchez-Valle Raquel, De la Casa-Fages Beatriz, Grandas Francisco, Diez-Fairen Mónica, Pastor Pau, Ferrari Raffaele, Álvarez Victoria, Menéndez-González Manu |
| Genetic variation in APOE, GRN, and TP53 are phenotype modifiers in frontotemporal dementia. Neurobiology of aging 2020 9 99 99.e15-99.e22. Rosas Irene, Martínez Carmen, Coto Eliecer, Clarimón Jordi, Lleó Alberto, Illán-Gala Ignacio, Dols-Icardo Oriol, Borroni Barbara, Almeida Maria Rosário, van der Zee Julie, Van Broeckhoven Christine, , Bruni Amalia C, Anfossi Maria, Bernardi Livia, Maletta Raffaele, Serpente María, Galimberti Daniela, Scarpini Elio, Rossi Giacomina, Caroppo Paola, Benussi Luisa, Ghidoni Roberta, Binetti Giuliano, Nacmias Benedetta, Sorbi Sandro, Piaceri Irene, Bagnoli Silvia, Antonell Anna, Sánchez-Valle Raquel, De la Casa-Fages Beatriz, Grandas Francisco, Diez-Fairen Mónica, Pastor Pau, Ferrari Raffaele, , Queimaliños-Perez Daniel, Pérez-Oliveira Sergio, Álvarez Victoria, Menéndez-González Manu |
| Reduced mitochondrial D-loop methylation levels in sporadic amyotrophic lateral sclerosis. Clinical epigenetics 2020 9 12 (1): 137. Stoccoro Andrea, Smith Adam R, Mosca Lorena, Marocchi Alessandro, Gerardi Francesca, Lunetta Christian, Cereda Cristina, Gagliardi Stella, Lunnon Katie, Migliore Lucia, Coppedè Fab |
| TMEM106B modifies TDP-43 pathology in human ALS brain and cell-based models of TDP-43 proteinopathy. Acta neuropathologica 2021 6 142 (4): 629-642. Mao Fei, Robinson John L, Unger Travis, Posavi Marijan, Amado Defne A, Elman Lauren, Grossman Murray, Wolk David A, Lee Edward B, Van Deerlin Vivianna M, Porta Sílvia, Lee Virginia M Y, Trojanowski John Q, Chen-Plotkin Alice |
| Synaptic density in carriers of C9orf72 mutations: a [ C]UCB-J PET study. Annals of clinical and translational neurology 2021 6 8 (7): 1515-1523. Malpetti Maura, Holland Negin, Jones P Simon, Ye Rong, Cope Thomas E, Fryer Tim D, Hong Young T, Savulich George, Rittman Timothy, Passamonti Luca, Mak Elijah, Aigbirhio Franklin I, O'Brien John T, Rowe James |
| Targeted sequencing panels in Italian ALS patients support different etiologies in the ALS/FTD continuum. Journal of neurology 2021 Mar . Bartoletti-Stella Anna, Vacchiano Veria, De Pasqua Silvia, Mengozzi Giacomo, De Biase Dario, Bartolomei Ilaria, Avoni Patrizia, Rizzo Giovanni, Parchi Piero, Donadio Vincenzo, Chiò Adriano, Pession Annalisa, Oppi Federico, Salvi Fabrizio, Liguori Rocco, Capellari Sabina, |
| Genetic landscape of early-onset dementia in Hungary. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2022 Jun . Csaban Dora, Illes Anett, Renata Toth-Bencsik, Balicza Peter, Pentelenyi Klara, Molnar Viktor, Gezsi Andras, Grosz Zoltan, Gal Aniko, Kovacs Tibor, Klivenyi Peter, Molnar Maria Jud |
| A molecular view of amyotrophic lateral sclerosis through the lens of interaction network modules. PloS one 2022 5 17 (5): e0268159. Jensen Klaus Højgaard, Stalder Anna Katharina, Wernersson Rasmus, Roloff-Handschin Tim-Christoph, Hansen Daniel Hvidberg, Groenen Peter M |
| The PINK1 p.Asn521Thr Variant Is Associated with Earlier Disease Onset in GRN/C9orf72 Frontotemporal Lobar Degeneration. International journal of molecular sciences 2022 11 23 (21): . Rossi Giacomina, Salvi Erika, Benussi Luisa, Mehmeti Elkadia, Geviti Andrea, Bellini Sonia, Longobardi Antonio, Facconi Alessandro, Carrara Matteo, Bonvicini Cristian, Nicsanu Roland, Saraceno Claudia, Ricci Martina, Giaccone Giorgio, Binetti Giuliano, Ghidoni Rober |
| 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 |
| No Association of Multiple Sclerosis with C9orf72 Hexanucleotide Repeat Size in an Austrian Cohort. International journal of molecular sciences 2023 7 24 (14): . Theresa König, Fritz Leutmezer, Thomas Berger, Alexander Zimprich, Christiane Schmied, Elisabeth Stögmann, Tobias Zrza |
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- Page last updated:Dec 01, 2023
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