Search Results - "Lynch, David R"

Anti-NMDA receptor encephalitis antibody binding is dependent on amino acid identity of a small region within the GluN1 amino terminal domain by Gleichman, Amy J, Spruce, Lynn A, Dalmau, Josep, Seeholzer, Steven H, Lynch, David R

“…Anti-NMDA receptor (NMDAR) encephalitis is a newly identified autoimmune disorder that targets NMDARs, causing severe neurological symptoms including…”
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Anti-NMDA-receptor encephalitis: case series and analysis of the effects of antibodies by Dalmau, Josep, MD, Gleichman, Amy J, BS, Hughes, Ethan G, BS, Rossi, Jeffrey E, BA, Peng, Xiaoyu, BS, Lai, Meizan, MD, Dessain, Scott K, MD, Rosenfeld, Myrna R, MD, Balice-Gordon, Rita, PhD, Lynch, David R, MD

“…Summary Background A severe form of encephalitis associated with antibodies against NR1–NR2 heteromers of the NMDA receptor was recently identified. We aimed…”
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Cellular and synaptic mechanisms of anti-NMDA receptor encephalitis by Hughes, Ethan G, Peng, Xiaoyu, Gleichman, Amy J, Lai, Meizan, Zhou, Lei, Tsou, Ryan, Parsons, Thomas D, Lynch, David R, Dalmau, Josep, Balice-Gordon, Rita J

“…We recently described a severe, potentially lethal, but treatment-responsive encephalitis that associates with autoantibodies to the NMDA receptor (NMDAR) and…”
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Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis in children and adolescents by Florance, Nicole R., Davis, Rebecca L., Lam, Christopher, Szperka, Christina, Zhou, Lei, Ahmad, Saba, Campen, Cynthia J., Moss, Heather, Peter, Nadja, Gleichman, Amy J., Glaser, Carol A., Lynch, David R., Rosenfeld, Myrna R., Dalmau, Josep

“…Objective To report the clinical features of anti–N‐methyl‐D‐aspartate receptor (NMDAR) encephalitis in patients ≤ 18 years old. Methods Information was…”
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Efficacy of Omaveloxolone in Friedreich's Ataxia: Delayed‐Start Analysis of the MOXIe Extension by Lynch, David R., Chin, Melanie P., Boesch, Sylvia, Delatycki, Martin B., Giunti, Paola, Goldsberry, Angie, Hoyle, J. Chad, Mariotti, Caterina, Mathews, Katherine D., Nachbauer, Wolfgang, O'Grady, Megan, Perlman, Susan, Subramony, S.H., Wilmot, George, Zesiewicz, Theresa, Meyer, Colin J.

“…ABSTRACT Background MOXIe was a two‐part study evaluating the safety and efficacy of omaveloxolone in patients with Friedreich's ataxia, a rare, progressive…”
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PPAR gamma agonist leriglitazone improves frataxin-loss impairments in cellular and animal models of Friedreich Ataxia by Rodríguez-Pascau, Laura, Britti, Elena, Calap-Quintana, Pablo, Dong, Yi Na, Vergara, Cristina, Delaspre, Fabien, Medina-Carbonero, Marta, Tamarit, Jordi, Pallardó, Federico V., Gonzalez-Cabo, Pilar, Ros, Joaquim, Lynch, David R., Martinell, Marc, Pizcueta, Pilar

“…Friedreich ataxia (FRDA), the most common autosomal recessive ataxia, is characterized by degeneration of the large sensory neurons and spinocerebellar tracts,…”
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AMPA receptor antibodies in limbic encephalitis alter synaptic receptor location by Lai, Meizan, Hughes, Ethan G., Peng, Xiaoyu, Zhou, Lei, Gleichman, Amy J., Shu, Huidy, Matà, Sabrina, Kremens, Daniel, Vitaliani, Roberta, Geschwind, Michael D., Bataller, Luis, Kalb, Robert G., Davis, Rebecca, Graus, Francesc, Lynch, David R., Balice-Gordon, Rita, Dalmau, Josep

“…Objective To report the clinical and immunological features of a novel autoantigen related to limbic encephalitis (LE) and the effect of patients' antibodies…”
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Somatic instability of the expanded GAA repeats in Friedreich's ataxia by Long, Ashlee, Napierala, Jill S, Polak, Urszula, Hauser, Lauren, Koeppen, Arnulf H, Lynch, David R, Napierala, Marek

“…Friedreich's ataxia (FRDA) is a genetic neurodegenerative disorder caused by transcriptional silencing of the frataxin gene (FXN) due to expansions of GAA…”
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Liquid Chromatography-High Resolution Mass Spectrometry Analysis of Platelet Frataxin as a Protein Biomarker for the Rare Disease Friedreich’s Ataxia by Guo, Lili, Wang, Qingqing, Weng, Liwei, Hauser, Lauren A, Strawser, Cassandra J, Rocha, Agostinho G, Dancis, Andrew, Mesaros, Clementina, Lynch, David R, Blair, Ian A

“…Friedreich’s ataxia (FA) is an autosomal recessive disease caused by an intronic GAA triplet expansion in the FXN gene, leading to reduced expression of the…”
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Skin fibroblast metabolomic profiling reveals that lipid dysfunction predicts the severity of Friedreich’s ataxia by Wang, Dezhen, Ho, Elaine S., Cotticelli, M. Grazia, Xu, Peining, Napierala, Jill S., Hauser, Lauren A., Napierala, Marek, Himes, Blanca E., Wilson, Robert B., Lynch, David R., Mesaros, Clementina

“…Friedreich’s ataxia (FRDA) is an autosomal recessive neurodegenerative disorder caused by a triplet guanine-adenine-adenine (GAA) repeat expansion in intron 1…”
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Mutations in the Gene PRRT2 Cause Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions by Lee, Hsien-Yang, Huang, Yong, Bruneau, Nadine, Roll, Patrice, Roberson, Elisha D.O., Hermann, Mark, Quinn, Emily, Maas, James, Edwards, Robert, Ashizawa, Tetsuo, Baykan, Betul, Bhatia, Kailash, Bressman, Susan, Bruno, Michiko K., Brunt, Ewout R., Caraballo, Roberto, Echenne, Bernard, Fejerman, Natalio, Frucht, Steve, Gurnett, Christina A., Hirsch, Edouard, Houlden, Henry, Jankovic, Joseph, Lee, Wei-Ling, Lynch, David R., Mohammed, Shehla, Müller, Ulrich, Nespeca, Mark P., Renner, David, Rochette, Jacques, Rudolf, Gabrielle, Saiki, Shinji, Soong, Bing-Wen, Swoboda, Kathryn J., Tucker, Sam, Wood, Nicholas, Hanna, Michael, Bowcock, Anne M., Szepetowski, Pierre, Fu, Ying-Hui, Ptáček, Louis J.

“…Paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC) is an episodic movement disorder with autosomal-dominant inheritance and high penetrance,…”
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Targeting 3′ and 5′ untranslated regions with antisense oligonucleotides to stabilize frataxin mRNA and increase protein expression by Li, Yanjie, Li, Jixue, Wang, Jun, Lynch, David R, Shen, Xiulong, Corey, David R, Parekh, Darshan, Bhat, Balkrishen, Woo, Caroline, Cherry, Jonathan J, Napierala, Jill S, Napierala, Marek

“…Abstract Friedreich’s ataxia (FRDA) is a severe multisystem disease caused by transcriptional repression induced by expanded GAA repeats located in intron 1 of…”
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Mitochondrial and metabolic dysfunction in Friedreich ataxia: update on pathophysiological relevance and clinical interventions by Lynch, David R., Farmer, Garrett

“…Abstract Friedreich ataxia (FRDA) is a recessive disorder resulting from relative deficiency of the mitochondrial protein frataxin. Frataxin functions in the…”
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Cortical synaptic NMDA receptor deficits in α7 nicotinic acetylcholine receptor gene deletion models: Implications for neuropsychiatric diseases by Lin, Hong, Hsu, Fu-Chun, Baumann, Bailey H, Coulter, Douglas A, Lynch, David R

“…Abstract Microdeletion of the human CHRNA7 gene (α7 nicotinic acetylcholine receptor, nAChR) as well as dysfunction in N-methyl- d -aspartate receptors…”
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Predictors of loss of ambulation in Friedreich's ataxia by Rummey, Christian, Farmer, Jennifer M., Lynch, David R.

“…Friedreich's ataxia (FRDA) is a characterized by progressive loss of coordination and balance leading to loss of ambulation (LoA) in nearly all affected…”
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DNA methylation in Friedreich ataxia silences expression of frataxin isoform E by Rodden, Layne N., Gilliam, Kaitlyn M., Lam, Christina, Rojsajjakul, Teerapat, Mesaros, Clementina, Dionisi, Chiara, Pook, Mark, Pandolfo, Massimo, Lynch, David R., Blair, Ian A., Bidichandani, Sanjay I.

“…Epigenetic silencing in Friedreich ataxia (FRDA), induced by an expanded GAA triplet-repeat in intron 1 of the FXN gene, results in deficiency of the…”
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N-methyl-D-aspartate Receptor Subtypes: Multiple Roles in Excitotoxicity and Neurological Disease by Waxman, Elisa A., Lynch, David R.

“…N-methyl-D-aspartate (NMDA) receptors are the major mediator of excitotoxicity. Although physiological activation of the NMDA receptor is necessary for cell…”
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The Role of Serum Levels of Neurofilament Light (NfL) Chain as a Biomarker in Friedreich Ataxia by Frempong, Bernice, Wilson, Robert B, Schadt, Kimberly, Lynch, David R

“…Logically, as axons are damaged and die in neurodegenerative processes, NfL should leak into the interstitial space, then into CSF and plasma…”
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The attitude of patients with progressive ataxias towards clinical trials by Thomas-Black, Gilbert, Dumitrascu, Andrada, Garcia-Moreno, Hector, Vallortigara, Julie, Greenfield, Julie, Hunt, Barry, Walther, Susan, Wells, Mackenzie, Lynch, David R, Montgomery, Hugh, Giunti, Paola

“…The development of new therapies may rely on the conduct of human experimentation as well as later clinical trials of therapeutic interventions. Ethical…”
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Comprehensive analysis of gene expression patterns in Friedreich's ataxia fibroblasts by RNA sequencing reveals altered levels of protein synthesis factors and solute carriers by Napierala, Jill Sergesketter, Li, Yanjie, Lu, Yue, Lin, Kevin, Hauser, Lauren A, Lynch, David R, Napierala, Marek

“…Friedreich's ataxia (FRDA) is an autosomal recessive neurodegenerative disease usually caused by large homozygous expansions of GAA repeat sequences in intron…”
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