E-LIB Suche - Ergebnisse für: Kang, Peter B.

1

Three novel missense variants in two families with JAG2-ass..:

Dofash, Lein ; Lyengar, Krishnan ; Pereira, Nolette...
Neuromuscular Disorders. , 2024

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

2

Dominant stop‐loss HNRNPA1 variants in juvenile‐onset myopa..:

Turner, Johnnie ; Bruels, Christine C. ; Daugherty, Audrey L....
Muscle & Nerve. , 2024

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

3

Skipping, Steroids, and Genes: The First 7 Therapies for Du..:

Kang, Peter B.
Neurology. 102 (2024) 5 - p. , 2024

Link: https://doi.org/10.1212/..

4

Diagnoses of muscular dystrophy in a veterans health system:

Zingariello, Carla D. ; Mohamed, Yara ; Jorand‐Fletcher, Magali...
Muscle & Nerve. 70 (2024) 2 - p. 273-278 , 2024

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

5

Cognitive Decline and Other Late-Stage Neurologic Complicat..:

Rajamani, Geetanjali ; Stafki, Seth A. ; Daugherty, Audrey L....
Neurology Clinical Practice. 14 (2024) 4 - p. , 2024

Link: https://doi.org/10.1212/..

6

One episode of low intensity aerobic exercise prior to syst..:

Pacak, Christina A. ; Suzuki-Hatano, Silveli ; Khadir, Fatemeh...
Journal of Translational Medicine. 21 (2023) 1 - p. , 2023

Link: https://doi.org/10.1186/..

7

Pediatric Neuromuscular Diseases:

Rathore, Geetanjali ; Kang, Peter B.
Pediatric Neurology. 149 (2023) - p. 1-14 , 2023

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

8

Diagnosis and management of glycogen storage disease type I..:

Koch, Rebecca L. ; Soler-Alfonso, Claudia ; Kiely, Bridget T....
Molecular Genetics and Metabolism. 138 (2023) 3 - p. 107525 , 2023

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

9

The Spectrum of MORC2-Related Disorders: A Potential Link t..:

Stafki, Seth A. ; Turner, Johnnie ; Littel, Hannah R....
Pediatric Neurology. 141 (2023) - p. 79-86 , 2023

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

10

Bi-allelic variants in HMGCR cause an autosomal-recessive p..:

Morales-Rosado, Joel A. ; Schwab, Tanya L. ; Macklin-Mantia, Sarah K....
The American Journal of Human Genetics. 110 (2023) 6 - p. 989-997 , 2023

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

11

The Notch signaling pathway in skeletal muscle health and d..:

Vargas‐Franco, Dorianmarie ; Kalra, Raghav ; Draper, Isabelle...
Muscle & Nerve. 66 (2022) 5 - p. 530-544 , 2022

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

12

Peripheral neuropathies associated with DNA repair disorder:

Maguina, Melissa ; Kang, Peter B. ; Tsai, Ang‐Chen.
Muscle & Nerve. 67 (2022) 2 - p. 101-110 , 2022

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

13

Clinical, electrophysiological, and imaging findings in chi..:

Portwood, Katherin E. ; Albayram, Mehmet S. ; Stone, Sarah...
Developmental Medicine & Child Neurology. 64 (2022) 10 - p. 1254-1261 , 2022

Link: https://doi.org/10.1111/..

14

Diagnostic capabilities of nanopore long‐read sequencing in..:

Bruels, Christine C. ; Littel, Hannah R. ; Daugherty, Audrey L....
Annals of Clinical and Translational Neurology. 9 (2022) 8 - p. 1302-1309 , 2022

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

15

Can We Generalize Key Principles in the Care of Rare Diseas..:

Carlson, Martha D. ; Kang, Peter B.
Neurology. 99 (2022) 21 - p. 929-930 , 2022

Link: https://doi.org/10.1212/..