• Associations of Health and Financial Literacy with Mortality in Advanced Age 

  Stewart, Christopher C.; Yu, Lei; Lamar, Melissa; Wilson, Robert S.; Bennett, David A. (SpringerLink, 2020-05)

  Background: Health and financial literacy are central to older adults' well-being and financial standing, but the relation of literacy with mortality in advanced age remains unclear. Aims: To determine whether lower ...
• Temporal Trends in Stroke Incidence over Time by Sex and Age in the Greater Cincinnati Northern Kentucky Stroke Study 

  Madsen, Tracy E.; Khoury, Jane C.; Leppert, Michelle; Alwell, Kathleen; Moomaw, Charles J.; Sucharew, Heidi; Woo, Daniel; Ferioli, Simona; Martini, Sharyl; Adeoye, Opeolu; Khatri, Pooja; Flaherty, Matthew; De Los Rios La Rosa, Felipe; Mackey, Jason; Mistry, Eva; Demel, Stacie L.; Coleman, Elisheva; Jasne, Adam; Slavin, Sabreena J.; Walsh, Kyle; Star, Michael; Broderick, Joseph P.; Kissela, Brett M.; Kleindorfer, Dawn O. (American Heart Association, 2020-04)

  Background and Purpose- Sex differences in stroke incidence over time were previously reported from the GCNKSS (Greater Cincinnati/Northern Kentucky Stroke Study). We aimed to determine whether these differences continued ...
• Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity 

  Cheng, Hanyin; Capponi, Simona; Wakeling, Emma; Marchi, Elaine; Li, Quan; Zhao, Mengge; Weng, Chunhua; Piatek, Stefan G.; Ahlfors, Helena; Kleyner, Robert; Rope, Alan; Lumaka, Aimé; Lukusa, Prosper; Devriendt, Koenraad; Vermeesch, Joris; Posey, Jennifer E.; Palmer, Elizabeth E.; Murray, Lucinda; Leon, Eyby; Diaz, Jullianne; Worgan, Lisa; Mallawaarachchi, Amali; Vogt, Julie; de Munnik, Sonja A.; Dreyer, Lauren; Baynam, Gareth; Ewans, Lisa; Stark, Zornitza; Lunke, Sebastian; Gonçalves, Ana R.; Soares, Gabriela; Oliveira, Jorge; Fassi, Emily; Willing, Marcia; Waugh, Jeff L.; Faivre, Laurence; Riviere, Jean-Baptiste; Moutton, Sebastien; Mohammed, Shehla; Payne, Katelyn; Walsh, Laurence; Begtrup, Amber; Guillen Sacoto, Maria J.; Douglas, Ganka; Alexander, Nora; Buckley, Michael F.; Mark, Paul R.; Adès, Lesley C.; Sandaradura, Sarah A.; Lupski, James R.; Roscioli, Tony; Agrawal, Pankaj B.; Kline, Antonie D.; Wang, Kai; Timmers, T. Marc; Lyon, Gholson J. (Wiley, 2019-10-23)

  We recently described a new neurodevelopmental syndrome (TAF1/MRXS33 intellectual disability syndrome) (MIM# 300966) caused by pathogenic variants involving the X-linked gene TAF1, which participates in RNA polymerase II ...
• A morphospace of functional configuration to assess configural breadth based on brain functional networks 

  Duong-Tran, Duy; Abbas, Kausar; Amico, Enrico; Corominas-Murtra, Bernat; Dzemidzic, Mario; Kareken, David; Ventresca, Mario; Goñi, Joaquín (MIT Press, 2021-09)

  The quantification of human brain functional (re)configurations across varying cognitive demands remains an unresolved topic. We propose that such functional configurations may be categorized into three different types: ...
• Patients With Extreme Early Onset Juvenile Huntington Disease Can Have Delays in Diagnosis: A Case Report and Literature Review 

  Moeller, Ashley A.; Felker, Marcia V.; Brault, Jennifer A.; Duncan, Laura C.; Hamid, Rizwan; Golomb, Meredith R. (SAGE, 2021-01-01)

  Huntington disease (HD) is caused by a pathologic cytosine-adenine-guanine (CAG) trinucleotide repeat expansion in the HTT gene. Typical adult-onset disease occurs with a minimum of 40 repeats. With more than 60 CAG repeats, ...
• Deep multiple instance learning for foreground speech localization in ambient audio from wearable devices 

  Hebbar, Rajat; Papadopoulos, Pavlos; Reyes, Ramon; Danvers, Alexander F.; Polsinelli, Angelina J.; Moseley, Suzanne A.; Sbarra, David A.; Mehl, Matthias R.; Narayanan, Shrikanth (Springer, 2021)

  Over the recent years, machine learning techniques have been employed to produce state-of-the-art results in several audio related tasks. The success of these approaches has been largely due to access to large amounts of ...
• A novel SNCA E83Q mutation in a case of dementia with Lewy bodies and atypical frontotemporal lobar degeneration 

  Kapasi, Alifiya; Brosch, Jared R.; Nudelman, Kelly N.; Agrawal, Sonal; Foroud, Tatiana M.; Schneider, Julie A. (Wiley, 2020-12)

  In this case report, we discuss a patient presenting with parkinsonism followed by a non-amnestic dementia with aphasic clinical features, as well as frontal dysexecutive syndrome. There was a family history of dementia ...
• Technology intervention to support caregiving for Alzheimer’s disease (I-CARE): study protocol for a randomized controlled pilot trial 

  Braly, Tyler; Muriathiri, Doris; Brown, Janetta C.; Taylor, Britain M.; Boustani, Malaz A.; Holden, Richard J. (BMC, 2021-01)

  Background: Informal caregivers of patients with Alzheimer's disease and related dementias (ADRD) manage a complex spectrum of patient behavioral and psychological symptoms of dementia (BPSD). Mobile health information ...
• Awareness of Genetic Risk in the Dominantly Inherited Alzheimer Network (DIAN) 

  Aschenbrenner, Andrew J.; James, Bryan D.; McDade, Eric; Wang, Guoqiao; Lim, Yen Ying; Benzinger, Tammie L.S.; Cruchaga, Carlos; Goate, Alison; Xiong, Chengjie; Perrin, Richard; Buckles, Virginia; Allegri, Ricardo; Berman, Sarah B.; Chhatwal, Jasmeer P.; Fagan, Anne; Farlow, Martin; O'Connor, Antoinette; Ghetti, Bernardino; Graff-Radford, Neill; Goldman, Jill; Gräber, Susanne; Karch, Celeste M.; Lee, Jae-Hong; Levin, Johannes; Martins, Ralph N.; Masters, Colin; Mori, Hiroshi; Noble, James; Salloway, Stephen; Schofield, Peter; Morris, John C.; Bateman, Randall J.; Hassenstab, Jason (Wiley, 2020-01)

  Introduction: Although some members of families with autosomal dominant Alzheimer's disease mutations learn their mutation status, most do not. How knowledge of mutation status affects clinical disease progression is ...
• The Impact of Pediatric Basal Ganglia Stroke on Mental Health in Children: Report of 2 Cases 

  Badar, Sidrah A.; Radhakrishnan, Rupa; Golomb, Meredith R. (Sage, 2020-12-15)

  Background: The impact of basal ganglia stroke on mental health is better described in adults than in children. We report 2 children with significant mental health issues after basal ganglia stroke. Case reports: Patient ...
• Comparing cortical signatures of atrophy between late-onset and autosomal dominant Alzheimer disease 

  Dincer, Aylin; Gordon, Brian A.; Hari-Raj, Amrita; Keefe, Sarah J.; Flores, Shaney; McKay, Nicole S.; Paulick, Angela M.; Shady Lewis, Kristine E.; Feldman, Rebecca L.; Hornbeck, Russ C.; Allegri, Ricardo; Ances, Beau M.; Berman, Sarah B.; Brickman, Adam M.; Brooks, William S.; Cash, David M.; Chhatwal, Jasmeer P.; Farlow, Martin R.; la Fougère, Christian; Fox, Nick C.; Fulham, Michael J.; Jack, Clifford R., Jr.; Joseph-Mathurin, Nelly; Karch, Celeste M.; Lee, Athene; Levin, Johannes; Masters, Colin L.; McDade, Eric M.; Oh, Hwamee; Perrin, Richard J.; Raji, Cyrus; Salloway, Stephen P.; Schofield, Peter R.; Su, Yi; Villemagne, Victor L.; Wang, Qing; Weiner, Michael W.; Xiong, Chengjie; Yakushev, Igor; Morris, John C.; Bateman, Randall J.; Benzinger, Tammie L.S. (Elsevier, 2020)

  Defining a signature of cortical regions of interest preferentially affected by Alzheimer disease (AD) pathology may offer improved sensitivity to early AD compared to hippocampal volume or mesial temporal lobe alone. Since ...
• Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome) 

  Batzir, Nurit Assia; Posey, Jennifer E.; Song, Xiaofei; Akdemir, Zeynep Coban; Rosenfeld, Jill A.; Brown, Chester W.; Chen, Emily; Holtrop, Shannon G.; Mizerik, Elizabeth; Moreno, Margarita Nieto; Payne, Katelyn; Raas-Rothschild, Annick; Scott, Richard; Vernon, Hilary J.; Zadeh, Neda; Lupski, James R.; Sutton, V. Reid (Wiley, 2020-01)

  White-Sutton syndrome (WHSUS) is a recently-identified genetic disorder resulting from de novo heterozygous pathogenic variants in POGZ. Thus far, over 50 individuals have been reported worldwide, however phenotypic ...
• The Role of Urocortins in Intracerebral Hemorrhage 

  Choy, KerWoon; Tsai, Andy Po-Yi; Lin, Peter Bor-Chian; Wu, Meng-Yu; Lee, Chihyi; Alias, Aspalilah; Pang, Cheng-Yoong; Liew, Hock-Kean (MDPI, 2020-01)

  Intracerebral hemorrhage (ICH) causes an accumulation of blood in the brain parenchyma that disrupts the normal neurological function of the brain. Despite extensive clinical trials, no medical or surgical therapy has shown ...
• Long-term effect of thymectomy in patients with non-thymomatous myasthenia gravis treated with prednisone: 2-year extension of the MGTX randomised tria 

  Wolfe, Gil I.; Kaminski, Henry J.; Aban, Inmaculada B.; Minisman, Greg; Kuo, Hui-Chien; Marx, Alexander; Ströbel, Philipp; Mazia, Claudio; Oger, Joel; Cea, J. Gabriel; Heckmann, Jeannine M.; Evoli, Amelia; Nix, Wilfred; Ciafaloni, Emma; Antonini, Giovanni; Witoonpanich, Rawiphan; King, John O.; Beydoun, Said R.; Chalk, Colin H.; Barboi, Alexandru C.; Amato, Anthony A.; Shaibani, Aziz I.; Katirji, Bashar; Lecky, Bryan R. F.; Buckley, Camilla; Vincent, Angela; Dias-Tosta, Elza; Yoshikawa, Hiroaki; Waddington-Cruz, Márcia; Pulley, Michael T.; Rivner, Michael H.; Kostera-Pruszczyk, Anna; Pascuzzi, Robert M.; Jackson, Carlayne E.; Verschuuren, Jan J. G. M.; Massey, Janice M.; Kissel, John T.; Werneck, Lineu C.; Benatar, Michael; Barohn, Richard J.; Tandan, Rup; Mozaffar, Tahseen; Silvestri, Nicholas J.; Conwit, Robin; Sonett, Joshua R.; Jaretzki, Alfred, III; Newsom-Davis, John; Cutter, Gary R. (Elsevier, 2019-03)

  Background: The MGTX trial demonstrated that thymectomy combined with prednisone was superior to prednisone alone in improving clinical status measured by the Quantitative MG (QMG) score in patients with non-thymomatous ...
• Documentation of advance care planning forms in patients with amyotrophic lateral sclerosis 

  Takacs, Sara M.; Comer, Amber R. (Wiley, 2022-02)

  Introduction/Aims Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by progressive weakness. Survival is typically only a few years from symptom onset. The often-predictable disease course ...
• Longitudinal assessment of depression during the first year after stroke: Dimensionality and measurement invariance 

  Dong, Liming; Williams, Linda S.; Briceno, Emily; Morgenstern, Lewis B.; Lisabeth, Lynda D. (Elsevier, 2022-02)

  Objective Repeated measurement of depression using summative scores of commonly used depression scales assumes that the construct is unidimensional and invariant across time, but little is known about the validity of these ...
• Telemedicine Evaluations in Neuro-Ophthalmology During the COVID19 Pandemic: Patient and Physician Surveys 

  Conway, Jenna; Krieger, Penina; Hasanaj, Lisena; Sun, Linus; Scharf, Jackson M.; Odel, Jeffrey G.; Dinkin, Marc J.; Oliveira, Cristiano; Mackay, Devin D.; Rasool, Nailyn; Ko, Melissa W.; Rucker, Janet C.; Galetta, Steven L.; Balcer, Laura J. (Wolters Kluwer, 2021-09)

  Background: The novel coronavirus 2019 (COVID-19) pandemic has transformed healthcare. With the need to limit COVID-19 exposures, telemedicine has become an increasingly important format for clinical care. Compared to ...
• The Impact of COVID-19 on Neuro-Ophthalmology Office Visits and Adoption of Telemedicine Services 

  Moss, Heather E.; Ko, Melissa W.; Mackay, Devin D.; Chauhan, Divya; Gutierrez, Karen G.; Villegas, Natacha C.; Lai, Kevin E. (Wolters Kluwer, 2021-09)

  Background: The COVID-19 public health emergency (PHE) has significantly changed medical practice in the U.S., including an increase in the utilization of telemedicine. Here, we characterize change in neuro-ophthalmic care ...
• Central Venous Obstruction–Induced Intracranial Hypertension in Hemodialysis Patients: An Underrecognized Cause of Elevated Intracranial Pressure 

  Mackay, Devin D.; Takacs, Sara M. (Wolters Kluwer, 2020-06)

  Background: Central venous obstruction (stenosis or occlusion) is common in patients with renal failure on hemodialysis and may be associated with intracranial hypertension (IH). Causes include vein injury from an ...
• Referral Patterns in Neuro-Ophthalmology 

  Stunkel, Leanne; Mackay, Devin D.; Bruce, Beau B.; Newman, Nancy J.; Biousse, Valérie (Wolters Kluwer, 2020-12)

  Background: Neuro-ophthalmologists specialize in complex, urgent, vision- and life-threatening problems, diagnostic dilemmas, and management of complex work-ups. Access is currently limited by the relatively small number ...

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