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Somatic instability of the expanded GAA repeats in Friedreich's ataxia
Somatic instability of the expanded GAA repeats in Friedreich's ataxia
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Somatic instability of the expanded GAA repeats in Friedreich's ataxia

Long, Ashlee ; Napierala, Jill S ; Polak, Urszula ; Hauser, Lauren ; Koeppen, Arnulf H ; Lynch, David R ; Napierala, Marek Adinolfi, Salvatore

PloS one, 2017-12, Vol.12 (12), p.e0189990 [Periódico revisado por pares]

United States: Public Library of Science

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2
Targeting 3′ and 5′ untranslated regions with antisense oligonucleotides to stabilize frataxin mRNA and increase protein expression
Targeting 3′ and 5′ untranslated regions with antisense oligonucleotides to stabilize frataxin mRNA and increase protein expression
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Targeting 3′ and 5′ untranslated regions with antisense oligonucleotides to stabilize frataxin mRNA and increase protein expression

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

Nucleic acids research, 2021-11, Vol.49 (20), p.11560-11574 [Periódico revisado por pares]

England: Oxford University Press

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3
The Design, Implementation, and Acceptability of a Telehealth Comprehensive Recovery Service for People With Complex Psychosis Living in NYC During the COVID-19 Crisis
The Design, Implementation, and Acceptability of a Telehealth Comprehensive Recovery Service for People With Complex Psychosis Living in NYC During the COVID-19 Crisis
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The Design, Implementation, and Acceptability of a Telehealth Comprehensive Recovery Service for People With Complex Psychosis Living in NYC During the COVID-19 Crisis

Lynch, David A ; Medalia, Alice ; Saperstein, Alice

Frontiers in psychiatry, 2020-09, Vol.11, p.581149-581149 [Periódico revisado por pares]

Switzerland: Frontiers Media S.A

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4
Mutations in the Gene PRRT2 Cause Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions
Mutations in the Gene PRRT2 Cause Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions
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Mutations in the Gene PRRT2 Cause Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions

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.

Cell reports (Cambridge), 2012-01, Vol.1 (1), p.2-12 [Periódico revisado por pares]

United States: Elsevier Inc

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5
PPAR gamma agonist leriglitazone improves frataxin-loss impairments in cellular and animal models of Friedreich Ataxia
PPAR gamma agonist leriglitazone improves frataxin-loss impairments in cellular and animal models of Friedreich Ataxia
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PPAR gamma agonist leriglitazone improves frataxin-loss impairments in cellular and animal models of Friedreich Ataxia

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

Neurobiology of disease, 2021-01, Vol.148, p.105162-105162, Article 105162 [Periódico revisado por pares]

United States: Elsevier Inc

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6
Mitochondrial and metabolic dysfunction in Friedreich ataxia: update on pathophysiological relevance and clinical interventions
Mitochondrial and metabolic dysfunction in Friedreich ataxia: update on pathophysiological relevance and clinical interventions
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Mitochondrial and metabolic dysfunction in Friedreich ataxia: update on pathophysiological relevance and clinical interventions

Lynch, David R. ; Farmer, Garrett

Neuronal signaling, 2021-06, Vol.5 (2), p.NS20200093-NS20200093 [Periódico revisado por pares]

Portland Press Ltd

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7
Improved Diagnosis of Prosthetic Joint Infection by Culturing Periprosthetic Tissue Specimens in Blood Culture Bottles
Improved Diagnosis of Prosthetic Joint Infection by Culturing Periprosthetic Tissue Specimens in Blood Culture Bottles
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Improved Diagnosis of Prosthetic Joint Infection by Culturing Periprosthetic Tissue Specimens in Blood Culture Bottles

Peel, Trisha N ; Dylla, Brenda L ; Hughes, John G ; Lynch, David T ; Greenwood-Quaintance, Kerryl E ; Cheng, Allen C ; Mandrekar, Jayawant N ; Patel, Robin Gilligan, Peter

mBio, 2016-01, Vol.7 (1), p.e01776-e01715 [Periódico revisado por pares]

United States: American Society of Microbiology

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8
Low apolipoprotein A-I levels in Friedreich's ataxia and in frataxin-deficient cells: Implications for therapy
Low apolipoprotein A-I levels in Friedreich's ataxia and in frataxin-deficient cells: Implications for therapy
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Low apolipoprotein A-I levels in Friedreich's ataxia and in frataxin-deficient cells: Implications for therapy

Wang, QingQing ; Guo, Lili ; Strawser, Cassandra J ; Hauser, Lauren A ; Hwang, Wei-Ting ; Snyder, Nathaniel W ; Lynch, David R ; Mesaros, Clementina ; Blair, Ian A Witt, Stephan N.

PloS one, 2018-02, Vol.13 (2), p.e0192779 [Periódico revisado por pares]

United States: Public Library of Science

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9
Baseline characteristics from a 3-year longitudinal study to phenotype subjects with COPD: the FOOTPRINTS study
Baseline characteristics from a 3-year longitudinal study to phenotype subjects with COPD: the FOOTPRINTS study
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Baseline characteristics from a 3-year longitudinal study to phenotype subjects with COPD: the FOOTPRINTS study

Crapo, James D ; Gupta, Abhya ; Lynch, David A ; Turner, Alice M ; Mroz, Robert M ; Janssens, Wim ; Ludwig-Sengpiel, Andrea ; Koegler, Harald ; Eleftheraki, Anastasia ; Risse, Frank ; Diefenbach, Claudia

Respiratory research, 2023-11, Vol.24 (1), p.1-290, Article 290 [Periódico revisado por pares]

London: BioMed Central Ltd

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10
Cortical synaptic NMDA receptor deficits in α7 nicotinic acetylcholine receptor gene deletion models: Implications for neuropsychiatric diseases
Cortical synaptic NMDA receptor deficits in α7 nicotinic acetylcholine receptor gene deletion models: Implications for neuropsychiatric diseases
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Cortical synaptic NMDA receptor deficits in α7 nicotinic acetylcholine receptor gene deletion models: Implications for neuropsychiatric diseases

Lin, Hong ; Hsu, Fu-Chun ; Baumann, Bailey H ; Coulter, Douglas A ; Lynch, David R

Neurobiology of disease, 2014-03, Vol.63, p.129-140 [Periódico revisado por pares]

United States: Elsevier Inc

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