Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 39 Records) |
Query Trace: Motor Neuron Disease and C9orf72[original query] |
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Genetic modifiers in carriers of repeat expansions in the C9ORF72 gene. Molecular neurodegeneration 2014 9 38. van Blitterswijk Marka, Mullen Bianca, Wojtas Aleksandra, Heckman Michael G, Diehl Nancy N, Baker Matthew C, DeJesus-Hernandez Mariely, Brown Patricia H, Murray Melissa E, Hsiung Ging-Yuek R, Stewart Heather, Karydas Anna M, Finger Elizabeth, Kertesz Andrew, Bigio Eileen H, Weintraub Sandra, Mesulam Marsel, Hatanpaa Kimmo J, White Charles L, Neumann Manuela, Strong Michael J, Beach Thomas G, Wszolek Zbigniew K, Lippa Carol, Caselli Richard, Petrucelli Leonard, Josephs Keith A, Parisi Joseph E, Knopman David S, Petersen Ronald C, Mackenzie Ian R, Seeley William W, Grinberg Lea T, Miller Bruce L, Boylan Kevin B, Graff-Radford Neill R, Boeve Bradley F, Dickson Dennis W, Rademakers Ro |
Frontotemporal dementia and its subtypes: a genome-wide association study.
The Lancet. Neurology 2014 Jul 13 (7): 686-99. Ferrari Raffaele, Hernandez Dena G, Nalls Michael A, Rohrer Jonathan D, Ramasamy Adaikalavan, Kwok John B J, Dobson-Stone Carol, Brooks William S, Schofield Peter R, Halliday Glenda M, Hodges John R, Piguet Olivier, Bartley Lauren, Thompson Elizabeth, Haan Eric, Hernández Isabel, Ruiz Agustín, Boada Mercè, Borroni Barbara, Padovani Alessandro, Cruchaga Carlos, Cairns Nigel J, Benussi Luisa, Binetti Giuliano, Ghidoni Roberta, Forloni Gianluigi, Galimberti Daniela, Fenoglio Chiara, Serpente Maria, Scarpini Elio, Clarimón Jordi, Lleó Alberto, Blesa Rafael, Waldö Maria Landqvist, Nilsson Karin, Nilsson Christer, Mackenzie Ian R A, Hsiung Ging-Yuek R, Mann David M A, Grafman Jordan, Morris Christopher M, Attems Johannes, Griffiths Timothy D, McKeith Ian G, Thomas Alan J, Pietrini P, Huey Edward D, Wassermann Eric M, Baborie Atik, Jaros Evelyn, Tierney Michael C, Pastor Pau, Razquin Cristina, Ortega-Cubero Sara, Alonso Elena, Perneczky Robert, Diehl-Schmid Janine, Alexopoulos Panagiotis, Kurz Alexander, Rainero Innocenzo, Rubino Elisa, Pinessi Lorenzo, Rogaeva Ekaterina, St George-Hyslop Peter, Rossi Giacomina, Tagliavini Fabrizio, Giaccone Giorgio, Rowe James B, Schlachetzki Johannes C M, Uphill James, Collinge John, Mead Simon, Danek Adrian, Van Deerlin Vivianna M, Grossman Murray, Trojanowski John Q, van der Zee Julie, Deschamps William, Van Langenhove Tim, Cruts Marc, Van Broeckhoven Christine, Cappa Stefano F, Le Ber Isabelle, Hannequin Didier, Golfier Véronique, Vercelletto Martine, Brice Alexis, Nacmias Benedetta, Sorbi Sandro, Bagnoli Silvia, Piaceri Irene, Nielsen Jørgen E, Hjermind Lena E, Riemenschneider Matthias, Mayhaus Manuel, Ibach Bernd, Gasparoni Gilles, Pichler Sabrina, Gu Wei, Rossor Martin N, Fox Nick C, Warren Jason D, Spillantini Maria Grazia, Morris Huw R, Rizzu Patrizia, Heutink Peter, Snowden Julie S, Rollinson Sara, Richardson Anna, Gerhard Alexander, Bruni Amalia C, Maletta Raffaele, Frangipane Francesca, Cupidi Chiara, Bernardi Livia, Anfossi Maria, Gallo Maura, Conidi Maria Elena, Smirne Nicoletta, Rademakers Rosa, Baker Matt, Dickson Dennis W, Graff-Radford Neill R, Petersen Ronald C, Knopman David, Josephs Keith A, Boeve Bradley F, Parisi Joseph E, Seeley William W, Miller Bruce L, Karydas Anna M, Rosen Howard, van Swieten John C, Dopper Elise G P, Seelaar Harro, Pijnenburg Yolande A L, Scheltens Philip, Logroscino Giancarlo, Capozzo Rosa, Novelli Valeria, Puca Annibale A, Franceschi Massimo, Postiglione Alfredo, Milan Graziella, Sorrentino Paolo, Kristiansen Mark, Chiang Huei-Hsin, Graff Caroline, Pasquier Florence, Rollin Adeline, Deramecourt Vincent, Lebert Florence, Kapogiannis Dimitrios, Ferrucci Luigi, Pickering-Brown Stuart, Singleton Andrew B, Hardy John, Momeni Parast |
Altered network connectivity in frontotemporal dementia with C9orf72 hexanucleotide repeat expansion. Brain : a journal of neurology 2014 Nov 137 (Pt 11): 3047-60. Lee Suzee E, Khazenzon Anna M, Trujillo Andrew J, Guo Christine C, Yokoyama Jennifer S, Sha Sharon J, Takada Leonel T, Karydas Anna M, Block Nikolas R, Coppola Giovanni, Pribadi Mochtar, Geschwind Daniel H, Rademakers Rosa, Fong Jamie C, Weiner Michael W, Boxer Adam L, Kramer Joel H, Rosen Howard J, Miller Bruce L, Seeley William |
Global investigation and meta-analysis of the C9orf72 (G4C2)n repeat in Parkinson disease. Neurology 2014 Nov 83 (21): 1906-13. Theuns Jessie, Verstraeten Aline, Sleegers Kristel, Wauters Eline, Gijselinck Ilse, Smolders Stefanie, Crosiers David, Corsmit Ellen, Elinck Ellen, Sharma Manu, Krüger Rejko, Lesage Suzanne, Brice Alexis, Chung Sun Ju, Kim Mi-Jung, Kim Young Jin, Ross Owen A, Wszolek Zbigniew K, Rogaeva Ekaterina, Xi Zhengrui, Lang Anthony E, Klein Christine, Weissbach Anne, Mellick George D, Silburn Peter A, Hadjigeorgiou Georgios M, Dardiotis Efthimios, Hattori Nobutaka, Ogaki Kotaro, Tan Eng-King, Zhao Yi, Aasly Jan, Valente Enza Maria, Petrucci Simona, Annesi Grazia, Quattrone Aldo, Ferrarese Carlo, Brighina Laura, Deutschländer Angela, Puschmann Andreas, Nilsson Christer, Garraux Gaëtan, LeDoux Mark S, Pfeiffer Ronald F, Boczarska-Jedynak Magdalena, Opala Grzegorz, Maraganore Demetrius M, Engelborghs Sebastiaan, De Deyn Peter Paul, Cras Patrick, Cruts Marc, Van Broeckhoven Christine, |
Screening for C9orf72 Expansion Mutation in Serbian Patients with Early-Onset Dementia. Dementia and geriatric cognitive disorders 2015 Sep 40 (5-6): 358-365. Mandic-Stojmenovic Gorana, Stefanova Elka, Dobricic Valerija, Novakovic Ivana, Stojkovic Tanja, Jesic Aleksandar, Kostic Vladim |
Cerebellar c9RAN proteins associate with clinical and neuropathological characteristics of C9ORF72 repeat expansion carriers. Acta neuropathologica 2015 Oct 130 (4): 559-73. Gendron Tania F, van Blitterswijk Marka, Bieniek Kevin F, Daughrity Lillian M, Jiang Jie, Rush Beth K, Pedraza Otto, Lucas John A, Murray Melissa E, Desaro Pamela, Robertson Amelia, Overstreet Karen, Thomas Colleen S, Crook Julia E, Castanedes-Casey Monica, Rousseau Linda, Josephs Keith A, Parisi Joseph E, Knopman David S, Petersen Ronald C, Boeve Bradley F, Graff-Radford Neill R, Rademakers Rosa, Lagier-Tourenne Clotilde, Edbauer Dieter, Cleveland Don W, Dickson Dennis W, Petrucelli Leonard, Boylan Kevin |
Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease. Acta neuropathologica 2015 Jul 130 (1): 77-92. Pottier Cyril, Bieniek Kevin F, Finch NiCole, van de Vorst Maartje, Baker Matt, Perkersen Ralph, Brown Patricia, Ravenscroft Thomas, van Blitterswijk Marka, Nicholson Alexandra M, DeTure Michael, Knopman David S, Josephs Keith A, Parisi Joseph E, Petersen Ronald C, Boylan Kevin B, Boeve Bradley F, Graff-Radford Neill R, Veltman Joris A, Gilissen Christian, Murray Melissa E, Dickson Dennis W, Rademakers Ro |
Serum neurofilament light chain protein is a measure of disease intensity in frontotemporal dementia. Neurology 2016 Aug . Rohrer Jonathan D, Woollacott Ione O C, Dick Katrina M, Brotherhood Emilie, Gordon Elizabeth, Fellows Alexander, Toombs Jamie, Druyeh Ronald, Cardoso M Jorge, Ourselin Sebastien, Nicholas Jennifer M, Norgren Niklas, Mead Simon, Andreasson Ulf, Blennow Kaj, Schott Jonathan M, Fox Nick C, Warren Jason D, Zetterberg Henr |
Analyses MAPT, GRN, and C9orf72 mutations in Chinese patients with frontotemporal dementia. Neurobiology of aging 2016 May . Tang Min, Gu Xiaohua, Wei Jingya, Jiao Bin, Zhou Lin, Zhou Yafang, Weng Ling, Yan Xinxiang, Tang Beisha, Xu Jun, Shen |
C9orf72 Hexanucleotide Repeat Analysis in Cases with Pathologically Confirmed Dementia with Lewy Bodies. Neuro-degenerative diseases 2016 May 16 (5-6): 370-372. Geiger Joshua T, Arthur Karissa C, Dawson Ted M, Rosenthal Liana S, Pantelyat Alexander, Albert Marilyn, Hillis Argye E, Crain Barbara, Pletnikova Olga, Troncoso Juan C, Scholz Sonja |
Mutations in FUS are the most frequent genetic cause in juvenile sporadic ALS patients of Chinese origin. Amyotrophic lateral sclerosis & frontotemporal degeneration 2016 Mar 1-4. Zou Zhang-Yu, Liu Ming-Sheng, Li Xiao-Guang, Cui Li-Yi |
Screening for the C9ORF72 repeat expansion in a greek frontotemporal dementia cohort. Amyotrophic lateral sclerosis & frontotemporal degeneration 2017 Nov 1-3. Kartanou Chrisoula, Karadima Georgia, Koutsis Georgios, Breza Marianthi, Papageorgiou Sokratis G, Paraskevas George P, Kapaki Elisabeth, Panas Mari |
Genetic epidemiology of motor neuron disease-associated variants in the Scottish population. Neurobiology of aging 2016 Dec . Black Holly A, Leighton Danielle J, Cleary Elaine M, Rose Elaine, Stephenson Laura, Colville Shuna, Ross David, Warner Jon, Porteous Mary, Gorrie George H, Swingler Robert, Goldstein David, Harms Matthew B, Connick Peter, Pal Suvankar, Aitman Timothy J, Chandran Siddharth |
Current knowledge and recent insights into the genetic basis of amyotrophic lateral sclerosis. Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V 2018 9 30 (2): 252-258. Volk Alexander E, Weishaupt Jochen H, Andersen Peter M, Ludolph Albert C, Kubisch Christi |
Genetics of dementia in a Finnish cohort. European journal of human genetics : EJHG 2018 Feb . Pasanen Petra, Myllykangas Liisa, Pöyhönen Minna, Kiviharju Anna, Siitonen Maija, Hardy John, Bras Jose, Paetau Anders, Tienari Pentti J, Guerreiro Rita, Verkkoniemi-Ahola Au |
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 |
C9ORF72 hexanucleotide repeat expansion frequency in patients with Paget's disease of bone. Neurobiology of aging 2019 Aug . Rubino Elisa, Di Stefano Marco, Galimberti Daniela, Serpente Maria, Scarpini Elio, Fenoglio Chiara, Bo Mario, Rainero Innocen |
Confirmation of high frequency of C9orf72 mutations in patients with frontotemporal dementia from Sweden. Neurobiology of aging 2019 4 84 241.e21-241.e25. Öijerstedt Linn, Chiang Huei-Hsin, Björkström Jenny, Forsell Charlotte, Lilius Lena, Lindström Anna-Karin, Thonberg Håkan, Graff Caroli |
Role of MAPT in Pure Motor Neuron Disease: Report of a Recurrent Mutation in Italian Patients. Neuro-degenerative diseases 2019 Mar 18 (5-6): 310-314. Origone Paola, Geroldi Alessandro, Lamp Merit, Sanguineri Francesca, Caponnetto Claudia, Cabona Corrado, Gotta Fabio, Trevisan Lucia, Bellone Emilia, Manganelli Fiore, Devigili Grazia, Mandich Pao |
C9orf72, age at onset, and ancestry help discriminate behavioral from language variants in FTLD cohorts. Neurology 2020 9 95 (24): e3288-e3302. Costa Beatrice, Manzoni Claudia, Bernal-Quiros Manuel, Kia Demis A, Aguilar Miquel, Alvarez Ignacio, Alvarez Victoria, Andreassen Ole, Anfossi Maria, Bagnoli Silvia, Benussi Luisa, Bernardi Livia, Binetti Giuliano, Blackburn Daniel, Boada Mercè, Borroni Barbara, Bowns Lucy, Bråthen Geir, Bruni Amalia C, Chiang Huei-Hsin, Clarimon Jordi, Colville Shuna, Conidi Maria E, Cope Tom E, Cruchaga Carlos, Cupidi Chiara, Di Battista Maria Elena, Diehl-Schmid Janine, Diez-Fairen Monica, Dols-Icardo Oriol, Durante Elisabetta, Flisar Dušan, Frangipane Francesca, Galimberti Daniela, Gallo Maura, Gallucci Maurizio, Ghidoni Roberta, Graff Caroline, Grafman Jordan H, Grossman Murray, Hardy John, Hernández Isabel, Holloway Guy J T, Huey Edward D, Illán-Gala Ignacio, Karydas Anna, Khoshnood Behzad, Kramberger Milica G, Kristiansen Mark, Lewis Patrick A, Lleó Alberto, Madhan Gaganjit K, Maletta Raffaele, Maver Aleš, Menendez-Gonzalez Manuel, Milan Graziella, Miller Bruce, Mol Merel O, Momeni Parastoo, Moreno-Grau Sonia, Morris Chris M, Nacmias Benedetta, Nilsson Christer, Novelli Valeria, Öijerstedt Linn, Padovani Alessandro, Pal Suvankar, Panchbhaya Yasmin, Pastor Pau, Peterlin Borut, Piaceri Irene, Pickering-Brown Stuart, Pijnenburg Yolande A L, Puca Annibale A, Rainero Innocenzo, Rendina Antonella, Richardson Anna M T, Rogaeva Ekaterina, Rogelj Boris, Rollinson Sara, Rossi Giacomina, Rossmeier Carola, Rowe James B, Rubino Elisa, Ruiz Agustín, Sanchez-Valle Raquel, Sando Sigrid B, Santillo Alexander F, Saxon Jennifer, Scarpini Elio, Serpente Maria, Smirne Nicoletta, Sorbi Sandro, Suh EunRan, Tagliavini Fabrizio, Thompson Jennifer C, Trojanowski John Q, Van Deerlin Vivianna M, Van der Zee Julie, Van Broeckhoven Christine, van Rooij Jeroen, Van Swieten John C, Veronesi Arianna, Vitale Emilia, Waldö Maria L, Woodward Cathy, Yokoyama Jennifer, Escott-Price Valentina, Polke James M, Ferrari Raffaele, |
Inflammatory profiles relate to survival in subtypes of amyotrophic lateral sclerosis. Neurology(R) neuroimmunology & neuroinflammation 2020 3 7 (3): . Olesen Mads Nikolaj, Wuolikainen Anna, Nilsson Anna Christine, Wirenfeldt Martin, Forsberg Karin, Madsen Jonna Skov, Lillevang Soeren Thue, Brandslund Ivan, Andersen Peter Munch, Asgari Nasr |
Spastic paraplegia due to recessive or dominant mutations in ERLIN2 can convert to ALS. Neurology. Genetics 2020 2 5 (6): e374. Amador Maria-Del-Mar, Muratet François, Teyssou Elisa, Banneau Guillaume, Danel-Brunaud Véronique, Allart Etienne, Antoine Jean-Christophe, Camdessanché Jean-Philippe, Anheim Mathieu, Rudolf Gabrielle, Tranchant Christine, Fleury Marie-Céline, Bernard Emilien, Stevanin Giovanni, Millecamps Stéphan |
Structural MRI Signatures in Genetic Presentations of the Frontotemporal Dementia/Motor Neuron Disease Spectrum. Neurology 2021 9 97 (16): e1594-e1607. Spinelli Edoardo Gioele, Ghirelli Alma, Basaia Silvia, Cividini Camilla, Riva Nilo, Canu Elisa, Castelnovo Veronica, Domi Teuta, Magnani Giuseppe, Caso Francesca, Caroppo Paola, Prioni Sara, Rossi Giacomina, Tremolizzo Lucio, Appollonio Ildebrando, Silani Vincenzo, Carrera Paola, Filippi Massimo, Agosta Federi |
A Novel Genetic Marker for the C9orf72 Repeat Expansion in the Finnish Population. Journal of Alzheimer's disease : JAD 2021 Aug . Rostalski Hannah, Korhonen Ville, Kuulasmaa Teemu, Solje Eino, Krüger Johanna, Gen Finn, Kaivola Karri, Eide Per Kristian, Lambert Jean-Charles, Julkunen Valtteri, Tienari Pentti J, Remes Anne M, Leinonen Ville, Hiltunen Mikko, Haapasalo Annakai |
Concurrent tau pathologies in frontotemporal lobar degeneration with TDP-43 pathology. Neuropathology and applied neurobiology 2021 11 48 (2): e12778. Koga Shunsuke, Zhou Xiaolai, Murakami Aya, Fernandez De Castro Cristhoper, Baker Matthew C, Rademakers Rosa, Dickson Dennis |
Behavioral and Cognitive Phenotypes of Patients With Amyotrophic Lateral Sclerosis Carrying SOD1 Variants. Neurology 2022 8 99 (18): e2052-62. Bella Eleonora Dalla, Bersano Enrica, Bruzzone Maria Grazia, Gellera Cinzia, Pensato Viviana, Lauria Giuseppe, Consonni Moni |
Does epilepsy contribute to the clinical phenotype of C9orf72 mutation in fronto-temporal dementia? Epilepsy & behavior : E&B 2022 6 133 108783. Muroni Antonella, Floris Gianluca, Polizzi Lorenzo, Fadda Laura, Piga Giuseppe, Primicerio Giulia, Rocchi Lorenzo, Defazio Giovan |
ALS in Finland: Major Genetic Variants and Clinical Characteristics of Patients With and Without the C9orf72 Hexanucleotide Repeat Expansion. Neurology. Genetics 2022 3 8 (2): e665. Laaksovirta Hannu, Launes Jyrki, Jansson Lilja, Traynor Bryan J, Kaivola Karri, Tienari Pentti |
Genotype-phenotype characterisation of long survivors with motor neuron disease in Scotland. Journal of neurology 2022 12 . Leighton Danielle J, Ansari Morad, Newton Judith, Parry David, Cleary Elaine, Colville Shuna, Stephenson Laura, Larraz Juan, Johnson Micheala, Beswick Emily, Wong Michael, Gregory Jenna, Carod Artal Javier, Davenport Richard, Duncan Callum, Morrison Ian, Smith Colin, Swingler Robert, Deary Ian J, Porteous Mary, Aitman Timothy J, Chandran Siddharthan, Gorrie George H, Pal Suvankar, , |
Loss of brainstem white matter predicts onset and motor neuron symptoms in C9orf72 expansion carriers: a GENFI study. Journal of neurology 2022 11 . Pérez-Millan Agnès, Borrego-Écija Sergi, van Swieten John C, Jiskoot Lize, Moreno Fermin, Laforce Robert, Graff Caroline, Masellis Mario, Tartaglia Maria Carmela, Rowe James B, Borroni Barbara, Finger Elizabeth, Synofzik Matthis, Galimberti Daniela, Vandenberghe Rik, de Mendonça Alexandre, Butler Chris R, Gerhard Alexander, Ducharme Simon, Le Ber Isabelle, Santana Isabel, Pasquier Florence, Levin Johannes, Otto Markus, Sorbi Sandro, Tiraboschi Pietro, Seelaar Harro, Langheinrich Tobias, Rohrer Jonathan D, Sala-Llonch Roser, Sánchez-Valle Raquel, |
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