Search Results - "McKeever, Paul M."

Synaptic localization of C9orf72 regulates post-synaptic glutamate receptor 1 levels by Xiao, Shangxi, McKeever, Paul M, Lau, Agnes, Robertson, Janice

“…A hexanucleotide repeat expansion in a noncoding region of C9orf72 is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal…”
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Implementation of an antibody characterization procedure and application to the major ALS/FTD disease gene C9ORF72 by Laflamme, Carl, McKeever, Paul M, Kumar, Rahul, Schwartz, Julie, Kolahdouzan, Mahshad, Chen, Carol X, You, Zhipeng, Benaliouad, Faiza, Gileadi, Opher, McBride, Heidi M, Durcan, Thomas M, Edwards, Aled M, Healy, Luke M, Robertson, Janice, McPherson, Peter S

“…Antibodies are a key resource in biomedical research yet there are no community-accepted standards to rigorously characterize their quality. Here we develop a…”
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Jump from Pre-mutation to Pathologic Expansion in C9orf72 by Xi, Zhengrui, van Blitterswijk, Marka, Zhang, Ming, McGoldrick, Philip, McLean, Jesse R., Yunusova, Yana, Knock, Erin, Moreno, Danielle, Sato, Christine, McKeever, Paul M., Schneider, Raphael, Keith, Julia, Petrescu, Nicolae, Fraser, Paul, Tartaglia, Maria Carmela, Baker, Matthew C., Graff-Radford, Neill R., Boylan, Kevin B., Dickson, Dennis W., Mackenzie, Ian R., Rademakers, Rosa, Robertson, Janice, Zinman, Lorne, Rogaeva, Ekaterina

“…An expanded G4C2 repeat in C9orf72 represents the most common known genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration…”
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Isoform-specific antibodies reveal distinct subcellular localizations of C9orf72 in amyotrophic lateral sclerosis by Xiao, Shangxi, MacNair, Laura, McGoldrick, Philip, McKeever, Paul M., McLean, Jesse R., Zhang, Ming, Keith, Julia, Zinman, Lorne, Rogaeva, Ekaterina, Robertson, Janice

“…Objective A noncoding hexanucleotide repeat expansion in C9orf72 is the most common cause of amyotrophic lateral sclerosis (ALS) and frontotemporal lobar…”
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MicroRNA Expression Levels Are Altered in the Cerebrospinal Fluid of Patients with Young-Onset Alzheimer’s Disease by McKeever, Paul M., Schneider, Raphael, Taghdiri, Foad, Weichert, Anna, Multani, Namita, Brown, Robert A., Boxer, Adam L., Karydas, Anna, Miller, Bruce, Robertson, Janice, Tartaglia, Maria Carmela

“…Clinical diagnosis of Alzheimer’s disease (AD) prior to the age of 65 years is classified as young-onset (YOAD), whereas diagnosis after the age of 65 years is…”
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Nodding syndrome in Uganda is a tauopathy by Pollanen, Michael S., Onzivua, Sylvester, Robertson, Janice, McKeever, Paul M., Olawa, Francis, Kitara, David L., Fong, Amanda

“…Nodding syndrome is an epidemic neurologic disorder of unknown cause that affects children in the subsistence-farming communities of East Africa. We report the…”
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The spectrum of disease and tau pathology of nodding syndrome in Uganda by Pollanen, Michael S, Onzivua, Sylvester, McKeever, Paul M, Robertson, Janice, Mackenzie, Ian R, Kovacs, Gabor G, Olwa, Francis, Kitara, David L, Fong, Amanda

“…Abstract Nodding syndrome is an enigmatic recurrent epidemic neurologic disease that affects children in East Africa. The illness begins with vertical nodding…”
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DNA methylation age acceleration is associated with ALS age of onset and survival by Zhang, Ming, McKeever, Paul M., Xi, Zhengrui, Moreno, Danielle, Sato, Christine, Bergsma, Tessa, McGoldrick, Philip, Keith, Julia, Robertson, Janice, Zinman, Lorne, Rogaeva, Ekaterina

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Unaffected mosaic C9orf72 case: RNA foci, dipeptide proteins, but upregulated C9orf72 expression by McGoldrick, Philip, Zhang, Ming, van Blitterswijk, Marka, Sato, Christine, Moreno, Danielle, Xiao, Shangxi, Zhang, Ashley B, McKeever, Paul M, Weichert, Anna, Schneider, Raphael, Keith, Julia, Petrucelli, Leonard, Rademakers, Rosa, Zinman, Lorne, Robertson, Janice, Rogaeva, Ekaterina

“…OBJECTIVESuggested C9orf72 disease mechanisms for amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration include C9orf72 haploinsufficiency,…”
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TDP-43 stabilizes G3BP1 mRNA: relevance to amyotrophic lateral sclerosis/frontotemporal dementia by Sidibé, Hadjara, Khalfallah, Yousra, Xiao, Shangxi, Gómez, Nicolás B, Fakim, Hana, Tank, Elizabeth M H, Di Tomasso, Geneviève, Bareke, Eric, Aulas, Anaïs, McKeever, Paul M, Melamed, Ze'ev, Destroimaisons, Laurie, Deshaies, Jade-Emmanuelle, Zinman, Lorne, Parker, J Alex, Legault, Pascale, Tétreault, Martine, Barmada, Sami J, Robertson, Janice, Vande Velde, Christine

“…TDP-43 nuclear depletion and concurrent cytoplasmic accumulation in vulnerable neurons is a hallmark feature of progressive neurodegenerative proteinopathies…”
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Cholinergic Neuron Gene Expression Differences Captured by Translational Profiling In A Mouse Model of Alzheimer’s Disease by McKeever, Paul M, Kim, TaeHyung, Hesketh, Andrew R, MacNair, Laura, Miletic, Denise, Favrin, Giorgio, Oliver, Stephen G, Zhang, Zhaolei, St George-Hyslop, Peter, Robertson, Janice

“…Abstract Cholinergic neurotransmission is impaired in Alzheimer’s disease (AD) and loss of basal forebrain cholinergic neurons is a key component of disease…”
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Elucidating the gene expression changes that underpin cholinergic dysfunction in a mouse model of Alzheimer’s disease by McKeever, Paul M, Hesketh, Andrew, Favrin, Giorgio, Oliver, Stephen, St. George-Hyslop, Peter, Robertson, Janice

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A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers by Zhang, Ming, Ferrari, Raffaele, Tartaglia, Maria Carmela, Keith, Julia, Surace, Ezequiel I, Wolf, Uri, Sato, Christine, Grinberg, Mark, Liang, Yan, Xi, Zhengrui, Dupont, Kyle, McGoldrick, Philip, Weichert, Anna, McKeever, Paul M, Schneider, Raphael, McCorkindale, Michael D, Manzoni, Claudia, Rademakers, Rosa, Graff-Radford, Neill R, Dickson, Dennis W, Parisi, Joseph E, Boeve, Bradley F, Petersen, Ronald C, Miller, Bruce L, Seeley, William W, van Swieten, John C, van Rooij, Jeroen, Pijnenburg, Yolande, van der Zee, Julie, Van Broeckhoven, Christine, Le Ber, Isabelle, Van Deerlin, Vivianna, Suh, EunRan, Rohrer, Jonathan D, Mead, Simon, Graff, Caroline, Öijerstedt, Linn, Pickering-Brown, Stuart, Rollinson, Sara, Rossi, Giacomina, Tagliavini, Fabrizio, Brooks, William S, Dobson-Stone, Carol, Halliday, Glenda M, Hodges, John R, Piguet, Olivier, Binetti, Giuliano, Benussi, Luisa, Ghidoni, Roberta, Nacmias, Benedetta, Sorbi, Sandro, Bruni, Amalia C, Galimberti, Daniela, Scarpini, Elio, Rainero, Innocenzo, Rubino, Elisa, Clarimon, Jordi, Lleó, Alberto, Ruiz, Agustin, Hernández, Isabel, Pastor, Pau, Diez-Fairen, Monica, Borroni, Barbara, Pasquier, Florence, Deramecourt, Vincent, Lebouvier, Thibaud, Perneczky, Robert, Diehl-Schmid, Janine, Grafman, Jordan, Huey, Edward D, Mayeux, Richard, Nalls, Michael A, Hernandez, Dena, Singleton, Andrew, Momeni, Parastoo, Zeng, Zhen, Hardy, John, Robertson, Janice, Zinman, Lorne, Rogaeva, Ekaterina

“…Discovery of disease age-of-onset modifiers is important for clinical trials and drug design. Zhang et al. perform a genome-wide analysis of epigenetic…”
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PROFILING EXOSOMAL MIRNAS IN EARLY ONSET ALZHEIMER’S DISEASE CEREBROSPINAL FLUID by McKeever, Paul M., Schneider, Raphael, Multani, Namita, Taghdiri, Foad, Brown, Robert, Boxer, Adam L., Robertson, Janice, Tartaglia, Maria Carmela

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Isoform‐specific antibodies reveal distinct subcellular localizations of C 9orf72 in amyotrophic lateral sclerosis by Xiao, Shangxi, MacNair, Laura, McGoldrick, Philip, McKeever, Paul M., McLean, Jesse R., Zhang, Ming, Keith, Julia, Zinman, Lorne, Rogaeva, Ekaterina, Robertson, Janice

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O5‐06‐02: Elucidating the gene expression changes that underpin cholinergic dysfunction in a mouse model of Alzheimer's disease by McKeever, Paul M., Hesketh, Andrew, Favrin, Giorgio, Oliver, Stephen, St. George-Hyslop, Peter, Robertson, Janice

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C9orf72 expansion creates the unstable folate-sensitive fragile site FRA9A by Mirceta, Mila, Schmidt, Monika H M, Shum, Natalie, Prasolava, Tanya K, Meikle, Bryanna, Lanni, Stella, Mohiuddin, Mohiuddin, Mckeever, Paul M, Zhang, Ming, Liang, Minggao, van der Werf, Ilse, Scheers, Stefaan, Dion, Patrick A, Wang, Peixiang, Wilson, Michael D, Abell, Theresa, Philips, Elliot A, Sznajder, Łukasz J, Swanson, Maurice S, Mehkary, Mustafa, Khan, Mahreen, Yokoi, Katsuyuki, Jung, Christine, de Jong, Pieter J, Freudenreich, Catherine H, McGoldrick, Philip, Yuen, Ryan K C, Abrahão, Agessandro, Keith, Julia, Zinman, Lorne, Robertson, Janice, Rogaeva, Ekaterina, Rouleau, Guy A, Kooy, R Frank, Pearson, Christopher E

“…The hyper-unstable Chr9p21 locus, harbouring the interferon gene cluster, oncogenes and C9orf72, is linked to multiple diseases. C9orf72 (GGGGCC)n expansions…”
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UNUSUAL PRESENTATIONS OF LMNA -ASSOCIATED LIPODYSTROPHY WITH COMPLEX PHENOTYPES AND GENERALIZED FAT LOSS: WHEN THE GENETIC DIAGNOSIS UNCOVERS NOVEL FEATURES by de Andrade, Natalia Xavier S, Adiyaman, Suleyman Cem, Yuksel, Berna Demir, Ferrari, Carla T, Eldin, Abdelwahab Jalal, Saydam, Basak Ozgen, Altay, Canan, Sharma, Pratima, Bhave, Nicole, Little, Ann, McKeever, Paul, Onay, Huseyin, Ozkal, Sermin, Secil, Mustafa, Yenerel, Mustafa Nuri, Akinci, Baris, Oral, Elif A

“…Lipodystrophy represents a group of rare diseases characterized by loss of body fat. While patients with generalized lipodystrophy exhibit near-total lack of…”
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Pathologic Basis of Central Nervous System Infections by McKeever, Paul E., MD, PhD

“…Radiology provides valuable gross pathologic information about central nervous system (CNS) infections. Major categories of infectious lesions of the brain and…”
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Symptomatic calcified perineural cyst after use of bone morphogenetic protein in transforaminal lumbar interbody fusion: a case report by Than, Khoi D., MD, Rahman, Shayan U., MD, McKeever, Paul E., MD, Wang, Anthony C., MD, La Marca, Frank, MD, Park, Paul, MD

“…Abstract Background context Human recombinant bone morphogenetic protein-2 (BMP-2) is commonly used in spinal surgery to augment arthrodesis, and a number of…”
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