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Select item 14898981.

The SCABRA3 Nuclear Gene Encodes the Plastid RpoTp RNA Polymerase, Which Is Required for Chloroplast Biogenesis and Mesophyll Cell Proliferation in Arabidopsis

Andrea Hricová, Victor Quesada, José Luis Micol

Plant Physiol. 2006 Jul; 141(3): 942–956. doi: 10.1104/pp.106.080069

PMCID:: PMC1489898

Abstract Article PDF–711K

Select item 74120092.

Arabidopsis Plastid-RNA Polymerase RPOTp Is Involved in Abiotic Stress Tolerance

Abel Lidón-Soto, Eva Núñez-Delegido, Iván Pastor-Martínez, Pedro Robles, Víctor Quesada

Plants (Basel) 2020 Jul; 9(7): 834. Published online 2020 Jul 2. doi: 10.3390/plants9070834

PMCID:: PMC7412009

Abstract Article PDF–1.6M

Select item 110612893.

Diagnostic uplift through the implementation of short tandem repeat analysis using exome sequencing

Jihoon G. Yoon, Seungbok Lee, Jaeso Cho, Narae Kim, Sheehyun Kim, Man Jin Kim, Soo Yeon Kim, Jangsup Moon, Jong-Hee Chae

Eur J Hum Genet. 2024 May; 32(5): 584–587. Published online 2024 Feb 2. doi: 10.1038/s41431-024-01542-w

PMCID:: PMC11061289

Abstract Article PDF–1.5M

Select item 108645224.

Two New Families and a Literature Review of ELOVL4-Associated Spinocerebellar Ataxia Type 34

Masahiro Nishide, Kathleen Le Marquand, Mark R. Davis, Gábor M. Halmágyi, Avi Fellner, Ramesh K. Narayanan, Marina L. Kennerson, Stephen W. Reddel, Lisa Worgan, Peter K. Panegyres, Kishore R. Kumar

Cerebellum. 2024; 23(1): 268–277. Published online 2023 Jan 25. doi: 10.1007/s12311-023-01522-8

PMCID:: PMC10864522

Abstract Article PDF–1.2M

Select item 108644715.

Perceptual and Acoustic Analysis of Speech in Spinocerebellar ataxia Type 1

Teije van Prooije, Simone Knuijt, Judith Oostveen, Kirsten Kapteijns, Adam P. Vogel, Bart van de Warrenburg

Cerebellum. 2024; 23(1): 112–120. Published online 2023 Jan 12. doi: 10.1007/s12311-023-01513-9

PMCID:: PMC10864471

Abstract Article PDF–1.6M

Select item 104866246.

New Views of the DNA Repair Protein Ataxia–Telangiectasia Mutated in Central Neurons: Contribution in Synaptic Dysfunctions of Neurodevelopmental and Neurodegenerative Diseases

Sabrina Briguglio, Clara Cambria, Elena Albizzati, Elena Marcello, Giovanni Provenzano, Angelisa Frasca, Flavia Antonucci

Cells. 2023 Sep; 12(17): 2181. Published online 2023 Aug 30. doi: 10.3390/cells12172181

PMCID:: PMC10486624

Abstract Article PDF–1.5M

Select item 104617957.

An Exploratory Survey on the Care for Ataxic Patients in the American Continents and the Caribbean

Laura Bannach Jardim, Ali Hasan, Sheng-han Kuo, Jonathan Javier Magaña, Marcondes França, Jr, Wilson Marques, Jr, Claudia Camejo, Luiz Carlos Santana-da-Silva, Emília Embiruçu Leão, Gisele Espíndola, Francisca Canals, Marcelo Miranda, Igor Salvatierra, Mario Cornejo-Olivas, Juan Fernandez-Ruiz, Pedro Braga-Neto, David José Dávila-Ortiz de Montellano, Luis Leonardo Flores-Lagunes, Nicolas Dupré, Bernard Brais, Fernando Regla Vargas, Clécio Godeiro, Léo Coutinho, Helio G. Teive, Marcelo Kaufmann, Paula Saffie, Gabriel Vasata Furtado, Maria Luiza Saraiva-Pereira, Orlando Barsottini, José Luiz Pedroso, Roberto Rodríguez-Labrada, Luis Velázquez-Pérez, Christopher Gomez

Cerebellum. Author manuscript; available in PMC 2023 Aug 28.

Published in final edited form as: Cerebellum. 2023 Aug; 22(4): 708–718. Published online 2022 Jul 7. doi: 10.1007/s12311-022-01442-z

PMCID:: PMC10461795

Abstract Article PDF–569K

Select item 102875558.

Camonsertib in DNA damage response-deficient advanced solid tumors: phase 1 trial results

Timothy A. Yap, Elisa Fontana, Elizabeth K. Lee, David R. Spigel, Martin Højgaard, Stephanie Lheureux, Niharika B. Mettu, Benedito A. Carneiro, Louise Carter, Ruth Plummer, Gregory M. Cote, Funda Meric-Bernstam, Joseph O’Connell, Joseph D. Schonhoft, Marisa Wainszelbaum, Adrian J. Fretland, Peter Manley, Yi Xu, Danielle Ulanet, Victoria Rimkunas, Mike Zinda, Maria Koehler, Ian M. Silverman, Jorge S. Reis-Filho, Ezra Rosen

Nat Med. 2023; 29(6): 1400–1411. Published online 2023 Jun 5. doi: 10.1038/s41591-023-02399-0

PMCID:: PMC10287555

Abstract Article PDF–6.0M

Select item 101875099.

The longitudinal progression of MRI changes in pre-ataxic carriers of SCA3/MJD

Camila Maria de Oliveira, Vanessa Bielefeldt Leotti, Sandra Polita, Mauricio Anes, Amanda Henz Cappelli, Anastacia Guimarães Rocha, Gabriela Ecco, Gabriela Bolzan, Nathalia Kersting, Juliana Avila Duarte, Maria-Luiza Saraiva-Pereira, Marcondes Cavalcante França Junior, Thiago Junqueira Ribeiro Rezende, Laura Bannach Jardim

J Neurol. 2023 May 16 : 1–12. doi: 10.1007/s00415-023-11763-6 [Epub ahead of print]

PMCID:: PMC10187509

Abstract Article PDF–2.0M

Select item 982323710.

ELOVL4 Mutations That Cause Spinocerebellar Ataxia-34 Differentially Alter Very Long Chain Fatty Acid Biosynthesis

Yeboah Kofi Gyening, Neeraj Kumar Chauhan, Madison Tytanic, Vicki Ea, Richard S. Brush, Martin-Paul Agbaga

J Lipid Res. 2023 Jan; 64(1): 100317. Published online 2022 Dec 1. doi: 10.1016/j.jlr.2022.100317

PMCID:: PMC9823237

Abstract Article PDF–3.3M

Select item 982059811.

Chitin Biodegradation by Lytic Polysaccharide Monooxygenases from Streptomyces coelicolor In Vitro and In Vivo

Fei Li, Honglu Zhao, Yuxin Liu, Jiaqi Zhang, Hongbo Yu

Int J Mol Sci. 2023 Jan; 24(1): 275. Published online 2022 Dec 23. doi: 10.3390/ijms24010275

PMCID:: PMC9820598

Abstract Article PDF–1.8M

Select item 954148412.

Minigene‐based splicing analysis and ACMG/AMP‐based tentative classification of 56 ATM variants

Elena Bueno‐Martínez, Lara Sanoguera‐Miralles, Alberto Valenzuela‐Palomo, Ada Esteban‐Sánchez, Víctor Lorca, Inés Llinares‐Burguet, Jamie Allen, Alicia García‐Álvarez, Pedro Pérez‐Segura, Mercedes Durán, Douglas F Easton, Peter Devilee, Maaike PG Vreeswijk, Miguel de la Hoya, Eladio A Velasco‐Sampedro

J Pathol. 2022 Sep; 258(1): 83–101. Published online 2022 Jul 15. doi: 10.1002/path.5979