HuGE Literature Finder
Records 1-14
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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 |
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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, |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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- Page last updated:Feb 24, 2021
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