Search Results - "Soto, Alexandra I."

Study of LRRK2 variation in tauopathy: Progressive supranuclear palsy and corticobasal degeneration by Sanchez‐Contreras, Monica, Heckman, Michael G., Tacik, Pawel, Diehl, Nancy, Brown, Patricia H., Soto‐Ortolaza, Alexandra I., Christopher, Elizabeth A., Walton, Ronald L., Ross, Owen A., Golbe, Lawrence I., Graff‐Radford, Neill, Wszolek, Zbigniew K., Dickson, Dennis W., Rademakers, Rosa

“…ABSTRACT Background Mutations in the leucine‐rich repeat kinase 2 gene (LRRK2) are the most common genetic cause of Parkinson's disease (PD). Unexpectedly, tau…”
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Screening of GBA Mutations in Nigerian Patients with Parkinson's Disease by Milanowski, Lukasz M., Oshinaike, Olajumoke, Walton, Ronald L., Soto‐Beasley, Alexandra I., Hanna Al‐Shaikh, Rana, Strongosky, Audrey J., Ross, Owen A., Wszolek, Zbigniew K., Ogun, Shamsideen Abayomi

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Age- and disease-dependent increase of the mitophagy marker phospho-ubiquitin in normal aging and Lewy body disease by Hou, Xu, Fiesel, Fabienne C., Truban, Dominika, Castanedes Casey, Monica, Lin, Wen-lang, Soto, Alexandra I., Tacik, Pawel, Rousseau, Linda G., Diehl, Nancy N., Heckman, Michael G., Lorenzo-Betancor, Oswaldo, Ferrer, Isidre, Arbelo, José M., Steele, John C., Farrer, Matthew J., Cornejo-Olivas, Mario, Torres, Luis, Mata, Ignacio F., Graff-Radford, Neill R., Wszolek, Zbigniew K., Ross, Owen A., Murray, Melissa E., Dickson, Dennis W., Springer, Wolfdieter

“…Although exact causes of Parkinson disease (PD) remain enigmatic, mitochondrial dysfunction is increasingly appreciated as a key determinant of dopaminergic…”
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ABI3 and PLCG2 missense variants as risk factors for neurodegenerative diseases in Caucasians and African Americans by Conway, Olivia J, Carrasquillo, Minerva M, Wang, Xue, Bredenberg, Jenny M, Reddy, Joseph S, Strickland, Samantha L, Younkin, Curtis S, Burgess, Jeremy D, Allen, Mariet, Lincoln, Sarah J, Nguyen, Thuy, Malphrus, Kimberly G, Soto, Alexandra I, Walton, Ronald L, Boeve, Bradley F, Petersen, Ronald C, Lucas, John A, Ferman, Tanis J, Cheshire, William P, van Gerpen, Jay A, Uitti, Ryan J, Wszolek, Zbigniew K, Ross, Owen A, Dickson, Dennis W, Graff-Radford, Neill R, Ertekin-Taner, Nilüfer

“…Rare coding variants ABI3_rs616338-T and PLCG2_rs72824905-G were identified as risk or protective factors, respectively, for Alzheimer's disease (AD). We…”
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Analysis of Lrrk2 R1628P as a risk factor for Parkinson's disease by Ross, Owen A., Wu, Yih-Ru, Lee, Mei-Ching, Funayama, Manabu, Chen, Meng-Ling, Soto, Alexandra I., Mata, Ignacio F., Lee-Chen, Guey-Jen, Chen, Chiung Mei, Tang, Michelle, Zhao, Yi, Hattori, Nobutaka, Farrer, Matthew J., Tan, Eng-King, Wu, Ruey-Meei

“…Common genetic variants that increase the risk for Parkinson's disease may differentiate patient subgroups and influence future individualized therapeutic…”
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Novel pathogenic LRRK2 p.Asn1437His substitution in familial Parkinson's disease by Aasly, Jan O., Vilariño-Güell, Carles, Dachsel, Justus C., Webber, Philip J., West, Andrew B., Haugarvoll, Kristoffer, Johansen, Krisztina K., Toft, Mathias, Nutt, John G., Payami, Haydeh, Kachergus, Jennifer M., Lincoln, Sarah J., Felic, Amela, Wider, Christian, Soto-Ortolaza, Alexandra I., Cobb, Stephanie A., White, Linda R., Ross, Owen A., Farrer, Matthew J.

“…Genealogical investigation of a large Norwegian family (F04) with autosomal dominant parkinsonism has identified 18 affected family members over four…”
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Multiple system atrophy and apolipoprotein E by Ogaki, Kotaro, Martens, Yuka A., Heckman, Michael G., Koga, Shunsuke, Labbé, Catherine, Lorenzo‐Betancor, Oswaldo, Wernick, Anna I., Walton, Ronald L., Soto, Alexandra I., Vargas, Emily R., Nielsen, Henrietta M., Fujioka, Shinsuke, Kanekiyo, Takahisa, Uitti, Ryan J., van Gerpen, Jay A., Cheshire, William P., Wszolek, Zbigniew K., Low, Phillip A., Singer, Wolfgang, Dickson, Dennis W., Bu, Guojun, Ross, Owen A.

“…ABSTRACT Background: Dysregulation of the specialized lipid metabolism involved in myelin synthesis and maintenance by oligodendrocytes has been associated…”
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Neuropathologically defined subtypes of Alzheimer’s disease differ significantly from neurofibrillary tangle-predominant dementia by Janocko, Nicholas J., Brodersen, Kevin A., Soto-Ortolaza, Alexandra I., Ross, Owen A., Liesinger, Amanda M., Duara, Ranjan, Graff-Radford, Neill R., Dickson, Dennis W., Murray, Melissa E.

“…Alzheimer’s disease (AD) can be classified based on the relative density of neurofibrillary tangles (NFTs) in the hippocampus and association cortices into…”
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Association of MAPT subhaplotypes with clinical and demographic features in Parkinson’s disease by Deutschlander, Angela B., Konno, Takuya, Soto‐Beasley, Alexandra I., Walton, Ronald L., Gerpen, Jay A., Uitti, Ryan J., Heckman, Michael G., Wszolek, Zbigniew K., Ross, Owen A.

“…Objective To determine whether distinct microtubule‐associated protein tau MAPT H1 subhaplotypes are associated with clinical and demographic features in…”
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Association of ABI3 and PLCG2 missense variants with disease risk and neuropathology in Lewy body disease and progressive supranuclear palsy by Strickland, Samantha L, Morel, Hélène, Prusinski, Christian, Allen, Mariet, Patel, Tulsi A, Carrasquillo, Minerva M, Conway, Olivia J, Lincoln, Sarah J, Reddy, Joseph S, Nguyen, Thuy, Malphrus, Kimberly G, Soto, Alexandra I, Walton, Ronald L, Crook, Julia E, Murray, Melissa E, Boeve, Bradley F, Petersen, Ronald C, Lucas, John A, Ferman, Tanis J, Uitti, Ryan J, Wszolek, Zbigniew K, Ross, Owen A, Graff-Radford, Neill R, Dickson, Dennis W, Ertekin-Taner, Nilüfer

“…Missense variants ABI3_rs616338-T and PLCG2_rs72824905-G were previously associated with elevated or reduced risk of Alzheimer's disease (AD), respectively…”
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Screening non-MAPT genes of the Chr17q21 H1 haplotype in Parkinson's disease by Soto-Beasley, Alexandra I., Walton, Ronald L., Valentino, Rebecca R., Hook, Paul W., Labbé, Catherine, Heckman, Michael G., Johnson, Patrick W., Goff, Loyal A., Uitti, Ryan J., McLean, Pamela J., Springer, Wolfdieter, McCallion, Andrew S., Wszolek, Zbigniew K., Ross, Owen A.

“…The microtubule-associated protein tau (MAPT) gene is considered a strong genetic risk factor for Parkinson's disease (PD) in Caucasians. MAPT is located…”
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Association Between Glucocerebrosidase Mutations and Parkinson's Disease in Ireland by Olszewska, Diana A., McCarthy, Allan, Soto-Beasley, Alexandra I., Walton, Ronald L., Magennis, Brian, McLaughlin, Russell L., Hardiman, Orla, Ross, Owen A., Lynch, Tim

“…Multiple studies implicate heterozygous GBA mutations as a major genetic risk factor for Parkinson's disease (PD); however, the frequency of mutations has…”
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Diffuse argyrophilic grain disease with TDP-43 proteinopathy and neuronal intermediate filament inclusion disease: FTLD with mixed tau, TDP-43 and FUS pathologies by Koga, Shunsuke, Murakami, Aya, Soto-Beasley, Alexandra I, Walton, Ronald L, Baker, Matthew C, Castanedes-Casey, Monica, Josephs, Keith A, Ross, Owen A, Dickson, Dennis W

“…Frontotemporal lobar degeneration (FTLD) is a group of disorders characterized by degeneration of the frontal and temporal lobes, leading to progressive…”
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Publisher Correction to: Diffuse argyrophilic grain disease with TDP-43 proteinopathy and neuronal intermediate filament inclusion disease: FTLD with mixed tau, TDP-43 and FUS pathologies by Koga, Shunsuke, Murakami, Aya, Soto-Beasley, Alexandra I, Walton, Ronald L, Baker, Matthew C, Castanedes-Casey, Monica, Josephs, Keith A, Ross, Owen A, Dickson, Dennis W

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Systematic Functional Analysis of PINK1 and PRKN Coding Variants by Broadway, Benjamin J., Boneski, Paige K., Bredenberg, Jenny M., Kolicheski, Ana, Hou, Xu, Soto-Beasley, Alexandra I., Ross, Owen A., Springer, Wolfdieter, Fiesel, Fabienne C.

“…Loss of either PINK1 or PRKN causes an early onset Parkinson’s disease (PD) phenotype. Functionally, PINK1 and PRKN work together to mediate stress-activated…”
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Association study between multiple system atrophy and TREM2 p.R47H by Ogaki, Kotaro, Heckman, Michael G, Koga, Shunsuke, Martens, Yuka A, Labbé, Catherine, Lorenzo-Betancor, Oswaldo, Walton, Ronald L, Soto, Alexandra I, Vargas, Emily R, Fujioka, Shinsuke, Uitti, Ryan J, van Gerpen, Jay A, Cheshire, William P, Younkin, Steven G, Wszolek, Zbigniew K, Low, Phillip A, Singer, Wolfgang, Bu, Guojun, Dickson, Dennis W, Ross, Owen A

“…The triggering receptor expressed on myeloid cells 2 (TREM2) p.R47H substitution (rs75932628) is a risk factor for Alzheimer disease (AD) but has not been well…”
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Independent and joint effects of the MAPT and SNCA genes in Parkinson disease by Elbaz, Alexis, Ross, Owen A., Ioannidis, John P. A., Soto-Ortolaza, Alexandra I., Moisan, Frédéric, Aasly, Jan, Annesi, Grazia, Bozi, Maria, Brighina, Laura, Chartier-Harlin, Marie-Christine, Destée, Alain, Ferrarese, Carlo, Ferraris, Alessandro, Gibson, J. Mark, Gispert, Suzana, Hadjigeorgiou, Georgios M., Jasinska-Myga, Barbara, Klein, Christine, Krüger, Rejko, Lambert, Jean-Charles, Lohmann, Katja, van de Loo, Simone, Loriot, Marie-Anne, Lynch, Timothy, Mellick, George D., Mutez, Eugénie, Nilsson, Christer, Opala, Grzegorz, Puschmann, Andreas, Quattrone, Aldo, Sharma, Manu, Silburn, Peter A., Stefanis, Leonidas, Uitti, Ryan J., Valente, Enza Maria, Vilariño-Güell, Carles, Wirdefeldt, Karin, Wszolek, Zbigniew K., Xiromerisiou, Georgia, Maraganore, Demetrius M., Farrer, Matthew J.

“…Objective: We studied the independent and joint effects of the genes encoding alpha‐synuclein (SNCA) and microtubule‐associated protein tau (MAPT) in Parkinson…”
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Case report of a patient with unclassified tauopathy with molecular and neuropathological features of both progressive supranuclear palsy and corticobasal degeneration by Koga, Shunsuke, Metrick, 2nd, Michael A, Golbe, Lawrence I, Santambrogio, Alessia, Kim, Minji, Soto-Beasley, Alexandra I, Walton, Ronald L, Baker, Matthew C, De Castro, Cristhoper Fernandez, DeTure, Michael, Russell, David, Navia, Bradford A, Sandiego, Christine, Ross, Owen A, Vendruscolo, Michele, Caughey, Byron, Dickson, Dennis W

“…Progressive supranuclear palsy (PSP) and corticobasal degeneration (CBD) are distinct clinicopathological subtypes of frontotemporal lobar degeneration. They…”
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MAPT subhaplotypes in corticobasal degeneration: assessing associations with disease risk, severity of tau pathology, and clinical features by Valentino, Rebecca R, Koga, Shunsuke, Walton, Ronald L, Soto-Beasley, Alexandra I, Kouri, Naomi, DeTure, Michael A, Murray, Melissa E, Johnson, Patrick W, Petersen, Ronald C, Boeve, Bradley F, Uitti, Ryan J, Wszolek, Zbigniew K, Dickson, Dennis W, Ross, Owen A, Heckman, Michael G

“…The microtubule-associated protein tau (MAPT) H1 haplotype is the strongest genetic risk factor for corticobasal degeneration (CBD). However, the specific H1…”
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Associations of mitochondrial genomic variation with corticobasal degeneration, progressive supranuclear palsy, and neuropathological tau measures by Valentino, Rebecca R, Tamvaka, Nikoleta, Heckman, Michael G, Johnson, Patrick W, Soto-Beasley, Alexandra I, Walton, Ronald L, Koga, Shunsuke, Uitti, Ryan J, Wszolek, Zbigniew K, Dickson, Dennis W, Ross, Owen A

“…Mitochondrial health is important in ageing and dysfunctional oxidative phosphorylation (OXPHOS) accelerates ageing and influences neurodegeneration…”
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