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2. Mitochondrial damage and impaired mitophagy contribute to disease progression in SCA6.

Author

Leung, Tsz Chui Sophia, Fields, Eviatar, Rana, Namrata, Shen, Ru Yi Louisa, Bernstein, Alexandra E., Cook, Anna A., Phillips, Daniel E., and Watt, Alanna J.

Abstract

Spinocerebellar ataxia type 6 (SCA6) is a neurodegenerative disease that manifests in midlife and progressively worsens with age. SCA6 is rare, and many patients are not diagnosed until long after disease onset. Whether disease-causing cellular alterations differ at different disease stages is currently unknown, but it is important to answer this question in order to identify appropriate therapeutic targets across disease duration. We used transcriptomics to identify changes in gene expression at disease onset in a well-established mouse model of SCA6 that recapitulates key disease features. We observed both up- and down-regulated genes with the major down-regulated gene ontology terms suggesting mitochondrial dysfunction. We explored mitochondrial function and structure and observed that changes in mitochondrial structure preceded changes in function, and that mitochondrial function was not significantly altered at disease onset but was impaired later during disease progression. We also detected elevated oxidative stress in cells at the same disease stage. In addition, we observed impairment in mitophagy that exacerbates mitochondrial dysfunction at late disease stages. In post-mortem SCA6 patient cerebellar tissue, we observed metabolic changes that are consistent with mitochondrial impairments, supporting our results from animal models being translatable to human disease. Our study reveals that mitochondrial dysfunction and impaired mitochondrial degradation likely contribute to disease progression in SCA6 and suggests that these could be promising targets for therapeutic interventions in particular for patients diagnosed after disease onset. [ABSTRACT FROM AUTHOR]

Published
2024
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3. Integrating Academic and Clinical Learning Using a Clinical Swallowing Assessment

Author

Phillips, Daniel E.

Abstract

This article describes an experiential learning activity designed to integrate classroom knowledge and a clinical swallowing assessment. Twenty master's-level graduate students in a dysphagia course conducted a clinical swallowing assessment with a resident of an independent retirement community. The exercise was designed to allow students an opportunity to obtain a case history and assess the oral motor and swallowing abilities of older adults without clinical dysphagia. The students' favorable responses from evaluating the experience suggested that it is a beneficial activity to bridge academic knowledge and emerging clinical skills. The areas the students considered most beneficial were the following: asking questions during the case history interview, providing clear explanations and directions during tasks, practicing the clinical task and observing a normal swallow, and increased confidence and competence to perform a clinical swallowing assessment. This activity could be used in academic training programs regardless of location and availability of clients. (Contains 3 tables.)

Published
2013
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5. Moyamoya Disease Susceptibility Gene RNF213 Regulates Endothelial Barrier Function

Author

Roy, Vincent, primary, Ross, Jay P., additional, Pépin, Rémy, additional, Cortez Ghio, Sergio, additional, Brodeur, Alyssa, additional, Touzel Deschênes, Lydia, additional, Le-Bel, Gaëtan, additional, Phillips, Daniel E., additional, Milot, Geneviève, additional, Dion, Patrick A., additional, Guérin, Sylvain, additional, Germain, Lucie, additional, Berthod, François, additional, Auger, François A., additional, Rouleau, Guy A., additional, Dupré, Nicolas, additional, and Gros-Louis, François, additional

Published
2022
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7. List of Contributors

Author

Abbas, Ghulam, primary, Adamowicz, Piotr, additional, Adan, Ana, additional, Agay, Nirit, additional, Al-Halabí, S., additional, Altun, Hatice, additional, Amini, Maryam, additional, Andersen, Monica L., additional, Andreassen, Cecilie Schou, additional, Anthony, James C., additional, Ardakani, Yalda Hosseinzadeh, additional, Aromatario, Mariarosaria, additional, Arun, Priti, additional, Atik, Anzari, additional, Atti, Anna Rita, additional, Baird, Alison L., additional, Balconi, Michela, additional, Ballóková, Anna Lukačišinová, additional, Bascarán, M.T., additional, Battagliese, Gemma, additional, Benaiges, Irina, additional, Bergen-Cico, Dessa, additional, Berrettini, Wade H., additional, Berro, Laís F., additional, Bertol, Elisabetta, additional, Bian, Jin-Song, additional, Bobes-Bascarán, M.T., additional, Bobes, J., additional, Bocarsly, Miriam E., additional, Bocca, Marie-Laure, additional, Bonafede, Roberta, additional, Borroto-Escuela, Dasiel O., additional, Bottoni, Edoardo, additional, Bousoño, M., additional, Bowen, Michael T., additional, Bramanti, Placido, additional, Buck, Kari J., additional, Buisman-Pijlman, Femke T.A., additional, Büttner, Andreas, additional, Calabrò, Rocco S., additional, Çamsari, Ulaş M., additional, Cappelletti, Simone, additional, Carbo-Gas, María, additional, Casadio, Paola, additional, Casadó-Anguera, Verònica, additional, Casadó, Vicent, additional, Ceccanti, Mauro, additional, Chang, Yong-Yuan, additional, Chang, Young-Tae, additional, Chiu, Meng-Chun, additional, Chiu, Nan-Ying, additional, Cho, Zang-Hee, additional, Chung, Yemina, additional, Ciallella, Costantino, additional, Cinosi, Eduardo, additional, Conigrave, Katherine M., additional, Coogan, Andrew N., additional, Coppola, Maurizio, additional, Cortés, Antoni, additional, Costa, Giulia, additional, Cox, Stephen, additional, Dafny, Nachum, additional, Das, Subhash, additional, Davis, Jonathan M., additional, De Matteo, Robert, additional, Demetrovics, Zsolt, additional, Demirkol, Apo, additional, Denovan-Wright, Eileen M., additional, di Giannantonio, Massimo, additional, Edgunlu, Tuba, additional, Elliott, Simon, additional, Enman, Nicole M., additional, Ensafi, Ali A., additional, Faccini, Marco, additional, Falls, Brian A., additional, Fang, Chiu-Ping, additional, Fan, Lir-Wan, additional, Farooq, Ahsana Dar, additional, Feingold, Daniel, additional, Ferraro, Luca, additional, Fialová, Daniela, additional, Filip, Malgorzata, additional, Findikli, Ebru, additional, Finocchiaro, Roberta, additional, Fiore, Paola A., additional, Font-Mayolas, Sílvia, additional, Fox, Jonah, additional, Fragou, Domniki, additional, Fu, Qiang, additional, Fuxe, Kjell, additional, Gahr, Maximilian, additional, García-Portilla, M.P., additional, George, Preeta, additional, Gil-Miravet, Isis, additional, Gorwood, Philip, additional, Gras, Maria Eugènia, additional, Gravielle, María Clara, additional, Griffiths, Mark D., additional, Haber, Paul S., additional, Hadad, Natalie A., additional, Hall, F. Scott, additional, Han, Doug Hyun, additional, Harding, Richard, additional, Hashmi, Rida, additional, Hassanian-Moghaddam, Hossein, additional, Hernández-Serrano, Olga, additional, Herrmann, Evan S., additional, Herzog, Thaddeus A., additional, Heydari-Bafrooei, Esmaeil, additional, Hirota, Kiichi, additional, Ho, Ming-Chou, additional, Howell, Leonard L., additional, Hsu, Wen-Yu, additional, Huang, Chieh-Liang, additional, Hughes, Robert N., additional, Hymel, Kristen A., additional, Hyun, Gi Jung, additional, Inoue, Koichi, additional, Islam, M. Mofizul, additional, Jamali, Bardia, additional, Jerzemowska, Grażyna, additional, Job, Martin O., additional, Johannessen, Jan Olav, additional, Johansen, Helen J., additional, Johnson, Matthew W., additional, Johnson, Patrick S., additional, Kang, Chang-Ki, additional, Karakaş-Çelik, Sevim, additional, Kharas, Natasha, additional, Kim, Young-Bo, additional, Knackstedt, Lori A., additional, Kokki, Hannu, additional, Kokki, Merja, additional, Konopka, Anna, additional, Kopcza, Kathleen, additional, Kouvelas, Dimitrios, additional, Kovatsi, Leda, additional, Kruse, Lauren C., additional, Lai, Chien-Wen, additional, Lapeyre-Mestre, Maryse, additional, Lauterbach, Edward C., additional, Le Strat, Yann, additional, Lee, Chen-Yi, additional, Lejoyeux, Michel, additional, Leone, Roberto, additional, Lev-Ran, Shaul, additional, Li, Ren-Hau, additional, Liang, Willmann, additional, Liu, Jiajun, additional, Liu, Ling-Jun, additional, Liu, Liwei, additional, Liu, Sheng-Wen, additional, Liu, Yu-Li, additional, Li, Zia, additional, Lobo, Daniela S.S., additional, Lou, Jingsheng, additional, Luigi Picci, Rocco, additional, Lupi, Matteo, additional, Lutz, Brianna M., additional, MacClurg, Kendra, additional, Magro, Lara, additional, Manchia, Mirko, additional, Maraz, Aniko, additional, Martin-Fardon, Rémi, additional, Martinotti, Giovanni, additional, Matzeu, Alessandra, additional, McLaughlin, Jay P., additional, McRae, Ian S., additional, Meyerhoff, Dieter J., additional, Miquel, Marta, additional, Mondola, Raffaella, additional, Moore, Robert, additional, Morelli, Micaela, additional, Moreno, Estefanía, additional, Mori, Tomohisa, additional, Murnion, Bridin, additional, Murphy, Kelle L., additional, Nagpure, Bhushan Vijay, additional, Naro, Antonino, additional, Neutel, C. Ineke, additional, Nielsen, Suzanne, additional, Nomura, Motoo, additional, Oliva, Francesco, additional, Olive, M. Foster, additional, Olivoni, Deanna, additional, Ouyang, Qin, additional, Pallesen, Ståle, additional, Palmaro, Aurore, additional, Papazisis, Georgios, additional, Paris, Jason J., additional, Park, Chan-A, additional, Park, Jeong Ha, additional, Pełka Wysiecka, Justyna, additional, Pearson-Dennett, Verity, additional, Phillips, Daniel E., additional, Pinna, Martina, additional, Plener, Paul L., additional, Ramoz, Nicolas, additional, Renshaw, Perry F., additional, Reyes, Beverly A.S., additional, Rivera, Alicia, additional, Robinson, Susan E., additional, Romolo, Francesco S., additional, Roohbakhsh, Ali, additional, Rouini, Mohammadreza, additional, Roussin, Anne, additional, Roussotte, Florence F., additional, Saiz, P.A., additional, Samochowiec, J., additional, Sanchis-Segura, Carla, additional, Santacroce, Rita, additional, Sato-Bigbee, Carmen, additional, Sayin, H. Umit, additional, Searles Quick, Veronica B., additional, Şenormanci, Ömer, additional, Seseña, Emmanuel, additional, Shamsizadeh, Ali, additional, Sheikholeslami, Behjat, additional, Shen, Bin, additional, Shibasaki, Masahiro, additional, Shillcutt, Samuel D., additional, Simola, Nicola, additional, Singh, Rachana, additional, Soraisham, Amuchou Singh, additional, Soto, Enrique, additional, Soyka, Michael, additional, Stepens, Ainars, additional, Sullman, Mark J.M., additional, Sun, Linlin, additional, Suzuki, Tsutomu, additional, Szabo, Attila, additional, Taba, Pille, additional, Tang, Hong Chai, additional, Tang, Tze-Chun, additional, Tao, Yuan-Xiang, additional, ten Velden Hegelstad, Wenche, additional, Thome, Johannes, additional, Thompson, Paul M., additional, Tien, Lu-Tai, additional, Tietz, Elizabeth I., additional, Todd, Gabrielle, additional, Tolcos, Mary, additional, Torkamanian, Meshkat, additional, Tsung, Jieh-Hen, additional, Tufik, Sergio, additional, Ullah, Mafaz, additional, Vaiano, Fabio, additional, Van Bockstaele, Elisabeth J., additional, Vandrey, Ryan, additional, Vazquez-Sanroman, Dolores, additional, Vega, Rosario, additional, Vitali, Mario, additional, Wai, Maria S.M., additional, Wang, Junmei, additional, Wang, Lirong, additional, Wang, Sheng-Chang, additional, Weibell, Melissa A., additional, Weinstein, Aviv, additional, White, Jason M., additional, Wilcox, Robert A., additional, Wilson, Hester, additional, Wouldes, Trecia A., additional, Wydra, Karolina, additional, Xie, Xiang-Qun, additional, Xie, Zhaojun, additional, Xi, Zheng-Xiong, additional, Xu, Wang, additional, Yang, Hai-Yu, additional, Yang, Peng, additional, Yechiam, Eldad, additional, Yew, David T., additional, Yong, Andrew W.S., additional, Zamani, Nasim, additional, Zoellner, Hans, additional, and Zuba, Dariusz, additional

Published
2016
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8. Otolaryngologists' views regarding the management of dysphonia and dysphagia in the southeastern United States

Author

Phillips, Daniel E., Haak, Nancy Jeanne, Waguespack, Richard W., and Moran, Michael J.

Subjects
Deglutition disorders -- Care and treatment, Speech therapy, Company business management, Health
Abstract

Keywords: dysphagia, dysphonia, otolaryngology, speech-language pathology, survey Understanding the clinical relationship of otolaryngology and speech-language pathology is important in optimizing care for people with voice and swallowing disorders. Previous surveys [...]

Published
2012

9. Relief of acquired stuttering associated with Parkinson's disease by unilateral left subthalamic brain stimulation

Author

Walker, Harrison C., Phillips, Daniel E., Boswell, Deborah B., Guthrie, Barton L., Guthrie, Stephanie L., Nicholas, Anthony P., Montgomery, Erwin B., and Watts, Ray L.

Subjects
Thalamus -- Care and treatment -- Methods -- Technology application, Stuttering -- Care and treatment, Parkinson's disease -- Properties -- Care and treatment, Speech therapy -- Methods -- Technology application, Brain stimulation -- Technology application -- Methods, Technology application, Health
Abstract

Purpose: In this article, the authors report a case of acquired stuttering associated with Parkinson's disease (PD) that was responsive to unilateral subthalamic nucleus deep-brain stimulation (STN DBS) in the language-dominant hemisphere. Method: A single-subject, masked, multiple baseline design was used to evaluate the effects of unilateral left STN DBS on stuttering associated with PD. The patient underwent 3 formal speech assessments of spontaneous speech and the reading of passages with DBS off and on. Speech samples were videotaped and placed in random order, and 2 independent speech-language pathologists calculated the percentage of stuttered syllables and classified individual stuttering events. Results: Stuttering improved significantly in the DBS-on condition. In total, 10% of syllables were affected by stuttering events with DBS off, and less than 1% of syllables were affected by stuttering events with DBS on (n = 2,281 syllables, p < .00001, in a [chi square] test). The effect of unilateral STN DBS on stuttering was relatively independent of whether the patient was on or off dopaminergic medications. Conclusion: This article emphasizes the important role of the subthalamic region in the motor control of speech and language. KEY WORDS: stuttering, Parkinson's disease, subthalamic nucleus, deep brain stimulation, speech, Both acquired and reemergent developmental stuttering have been associated with Parkinson's disease (PD) and other extrapyramidal disorders (Koller, 1983; Lim, Wilder-Smith, Ong, & Seet, 2005; Shahed & Jankovic, 2001). Acquired [...]

Published
2009
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10. Moyamoya Disease Susceptibility Gene Regulates Endothelial Barrier Function.

Author

Roy, Vincent, Ross, Jay P., Pepin, Remy, Cortez Ghio, Sergio, Brodeur, Alyssa, Touzel Deschenes, Lydia, Le-Bel, Gaetan, Phillips, Daniel E., Milot, Genevieve, Dion, Patrick A., Guerin, Sylvain, Germain, Lucie, Berthod, Francois, Auger, Francois A., Rouleau, Guy A., Dupre, Nicolas, Gros-Louis, Francois, Pépin, Rémy, Touzel Deschênes, Lydia, and Le-Bel, Gaëtan

Published
2022
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12. The Chattahoochee Review, Volume 37.2-3

Author

Bernard, Sean; Dickinson, Marc; Elmalich, Shira; Houck, Gabriel; Murphy, Patrick J.; Price, Thomas; Tshionyi, Makambo; Aderibigbe, D. M.; Blevins, Adrian; Chandra, Animesh; Chitwood, Michael; Franklin, Emily; Hummel, H. K.; Kalamaras, George; Keplinger, David; Lijun, Ye ; Parsons, Linda; Phillips, Daniel E.; Pogacar, Marko; Sereno, Prartho; Stockburger, Nicole; Weaver, Richard; Withiam, Scott; Agullo, Cinta Vidal; Potts, Rolf; Harris, Eddy L.; Jones, Alden; Bernstein, J. A.; Encarnacion, Dan; Harper, Ryan; McAlear, Emry; Melina, Lois Ruskai; Townsend, Alison; Antepara, Robin; Cox, Rosemary D.; Darling, Kristina Marie; House, Brent, Georgia Perimeter College, Bernard, Sean; Dickinson, Marc; Elmalich, Shira; Houck, Gabriel; Murphy, Patrick J.; Price, Thomas; Tshionyi, Makambo; Aderibigbe, D. M.; Blevins, Adrian; Chandra, Animesh; Chitwood, Michael; Franklin, Emily; Hummel, H. K.; Kalamaras, George; Keplinger, David; Lijun, Ye ; Parsons, Linda; Phillips, Daniel E.; Pogacar, Marko; Sereno, Prartho; Stockburger, Nicole; Weaver, Richard; Withiam, Scott; Agullo, Cinta Vidal; Potts, Rolf; Harris, Eddy L.; Jones, Alden; Bernstein, J. A.; Encarnacion, Dan; Harper, Ryan; McAlear, Emry; Melina, Lois Ruskai; Townsend, Alison; Antepara, Robin; Cox, Rosemary D.; Darling, Kristina Marie; House, Brent, and Georgia Perimeter College

Abstract

The Chattohoochee Review was a literary journal that published new works of fiction, non-fiction, poetry and visual arts. This volume features the following entries: "Samaritan", "Limited Jurisdition", "SPACE", "Reclamation", "Moorings", "The Raven Circus", "The Girl", "History Class", "American Gothic", "Privation Status", "Antoher Reality", "The Auction", "Whom Some of You May Know", "3-Body Problem", "Don't Let Me Let You Down", "Nothing is Not of Starlight in the Hound Dog's Snout", "The Church Inside the Church Where Weil First Knelt to Pray", "My Father Belives He Saw Me in Rome", "Whereabouts", "For Chloe, On Turning Eighteen", "On Revisiting the Place Where I Was Born", "On the Election of Eisenhower", "Pursuit", "Pretty Obstacles", "Right Now", "Full Wolf Moon", "Wooden-Headed Dummy Witnessing for the Lord", "The Epic", "Holidays", "Toscana", "Travel Writing Roundtable: The Elasticity of Place", "Lesser Learning", "Neighborhood Report", "Land of Make Believe", "Payaso", "Boulders", "Beyong Wild Run Farm: A Travel Guide to an Eastern Pennsylvania Childhood", "Alone, Above, and Apart: Elena Passarello's Sacred Bestiary", "Atlanta Noir: Voices from the Underside", ""Whether It's Coming or Leaving, We Can't Say": Desire & Proximity in Three Recent Collections", "That Stubborn South: A Review of Rigging a Chevy into a Time Machine and Other Ways to Escape a Plague".

Published
2017

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