E-LIB Suche - Ergebnisse für: Kimonis, Virginia

1

Bone scan findings of Paget's disease of bone in patients w..:

Columbres, Rod Carlo Agram ; Din, Sarosh ; Gibbs, Liliane.
Scientific Reports. 14 (2024) 1 - p. , 2024

Link: https://doi.org/10.1038/..

2

Variable clinical and brain radiological manifestations in ..:

Martin, Angela ; Kimonis, Virginia ; Gibbs, Liliane
Molecular Genetics and Metabolism. 141 (2024) 4 - p. 108228 , 2024

Link: https://doi.org/10.1016/..

3

Variable clinical and brain neuroradiological manifestation..:

Martin Rios, Angela M. ; Kimonis, Virginia
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 107952 , 2024

Link: https://doi.org/10.1016/..

4

Remote respiratory resistance exercise training improves re..:

Halseth, Madeline ; Mahoney, Ryan ; Hsiou, Joyce..
Neuromuscular Disorders. 34 (2024) - p. 68-74 , 2024

Link: https://doi.org/10.1016/..

5

Cross‐sectional study of patients with VCP multisystem prot..:

Columbres, Rod Carlo Agram ; Luu, Vu ; Nguyen, Minh.
Muscle & Nerve. 69 (2024) 6 - p. 699-707 , 2024

Link: https://doi.org/10.1002/..

6

Adjunct treatment with glycogen synthase (GYS1) antisense o..:

Martin, Angela ; Weiss, Lan ; Carrer, Michele...
Molecular Genetics and Metabolism. 141 (2024) 4 - p. 108166 , 2024

Link: https://doi.org/10.1016/..

7

The beauty and complexity of the small heat shock proteins:..:

Ecroyd, Heath ; Bartelt-Kirbach, Britta ; Ben-Zvi, Anat...
Cell Stress and Chaperones. 28 (2023) 6 - p. 621-629 , 2023

Link: https://doi.org/10.1007/..

8

HSPB8 frameshift mutant aggregates weaken chaperone-assiste..:

Tedesco, Barbara ; Vendredy, Leen ; Adriaenssens, Elias...
Autophagy. 19 (2023) 8 - p. 2217-2239 , 2023

Link: https://doi.org/10.1080/..

9

The beauty and complexity of the small heat shock proteins:..:

Ecroyd, Heath ; Bartelt-Kirbach, Britta ; Ben-Zvi, Anat...
Cell Stress & Chaperones. 28 (2023) 6 - p. 621-629 , 2023

Link: https://www.jstor.org/st..

10

P005: Head-to-head trial of pegunigalsidase alfa vs agalsid..:

Bernat, John ; Wallace, Eric ; Goker-Alpan, Ozlem...
Genetics in Medicine Open. 1 (2023) 1 - p. 100015 , 2023

Link: https://doi.org/10.1016/..

11

Effects of enzyme replacement therapy on bone density in la..:

Avanti, Mahima ; Martin, Angela ; Columbres, Rod Carlo..
Molecular Genetics and Metabolism. 140 (2023) 3 - p. 107644 , 2023

Link: https://doi.org/10.1016/..

12

Diazoxide Choline Extended-Release Tablet in People With Pr..:

Miller, Jennifer L ; Gevers, Evelien ; Bridges, Nicola...
The Journal of Clinical Endocrinology & Metabolism. 108 (2023) 7 - p. 1676-1685 , 2023

Link: https://doi.org/10.1210/..

13

Head-to-head trial of pegunigalsidase alfa versus agalsidas..:

Wallace, Eric L ; Goker-Alpan, Ozlem ; Wilcox, William R...
Journal of Medical Genetics. 61 (2023) 6 - p. 520-530 , 2023

Link: https://doi.org/10.1136/..

14

A novel syndrome associated with prenatal fentanyl exposure:

Wadman, Erin ; Fernandes, Erica ; Muss, Candace...
Genetics in Medicine Open. 1 (2023) 1 - p. 100834 , 2023

Link: https://doi.org/10.1016/..

15

Novel Variants in the VCP Gene Causing Multisystem Proteino..:

Columbres, Rod Carlo Agram ; Chin, Yue ; Pratti, Sanjana...
Genes. 14 (2023) 3 - p. 676 , 2023

Link: https://doi.org/10.3390/..