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Works matching IS 09646906 AND DT 2023 AND VI 32 AND IP 20

Results: 8

1

Correction to: ''Hippocampal mutant APP and amyloid beta-induced cognitive decline, dendritic spine loss, defective autophagy, mitophagy and mitochondrial abnormalities in a mouse model of Alzheimer's disease''.

Published in:: Human Molecular Genetics, 2023, v. 32, n. 20, p. 3027, doi. 10.1093/hmg/ddad147
Publication type:: Article

2

Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 20, p. 2981, doi. 10.1093/hmg/ddad124

By:

Liu, Zhigang;
Xin, Baozhong;
Smith, Iris N;
Sency, Valerie;
Szekely, Julia;
Alkelai, Anna;
Shuldiner, Alan;
Efthymiou, Stephanie;
Rajabi, Farrah;
Coury, Stephanie;
Brownstein, Catherine A;
Rudnik-Schöneborn, Sabine;
Bruel, Ange-Line;
Thevenon, Julien;
Zeidler, Shimriet;
Jayakar, Parul;
Schmidt, Axel;
Cremer, Kirsten;
Engels, Hartmut;
Peters, Sophia O

Publication type:

Article

3

AAV9-mediated SMN gene therapy rescues cardiac desmin but not lamin A/C and elastin dysregulation in Smn<sup>2B/−</sup> spinal muscular atrophy mice.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 20, p. 2950, doi. 10.1093/hmg/ddad121

By:

Brown, Sharon J;
Šoltić, Darija;
Synowsky, Silvia A;
Shirran, Sally L;
Chilcott, Ellie;
Shorrock, Hannah K;
Gillingwater, Thomas H;
Yáñez-Muñoz, Rafael J;
Schneider, Bernard;
Bowerman, Melissa;
Fuller, Heidi R

Publication type:

Article

4

Arginine methylation of RNA-binding proteins is impaired in Huntington's disease.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 20, p. 3006, doi. 10.1093/hmg/ddad125

By:

Ratovitski, Tamara;
Kamath, Siddhi V;
O'Meally, Robert N;
Gosala, Keerthana;
Holland, Chloe D;
Jiang, Mali;
Cole, Robert N;
Ross, Christopher A

Publication type:

Article

5

Human herpesvirus 8 ORF57 protein is able to reduce TDP-43 pathology: network analysis identifies interacting pathways.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 20, p. 2966, doi. 10.1093/hmg/ddad122

By:

Webber, Chelsea J;
Murphy, Caroline N;
Rondón-Ortiz, Alejandro N;
Spek, Sophie J F van der;
Kelly, Elena X;
Lampl, Noah M;
Chiesa, Giulio;
Khalil, Ahmad S;
Emili, Andrew;
Wolozin, Benjamin

Publication type:

Article

6

Correction to: The potential of utrophin and dystrophin combination therapies for Duchenne muscular dystrophy.

Published in:: Human Molecular Genetics, 2023, v. 32, n. 20, p. 3026, doi. 10.1093/hmg/ddad145
Publication type:: Article

7

Predicted leukocyte telomere length and risk of myeloid neoplasms.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 20, p. 2996, doi. 10.1093/hmg/ddad126

By:

Sullivan, Shannon M;
Cole, Ben;
Lane, John;
Meredith, John J;
Langer, Erica;
Hooten, Anthony J;
Roesler, Michelle;
McGraw, Kathy L;
Pankratz, Nathan;
Poynter, Jenny N

Publication type:

Article

8

Mapping microRNA expression quantitative trait loci in the prenatal human brain implicates miR-1908-5p expression in bipolar disorder and other brain-related traits.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 20, p. 2941, doi. 10.1093/hmg/ddad118

By:

Toste, Carolina C;
O'Donovan, Michael C;
Bray, Nicholas J

Publication type:

Article