E-LIB Suche - Ergebnisse für: Ana Töpf

1

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

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

2

Improving Diagnostic Precision: Phenotype-Driven Analysis U..:

Estévez-Arias, Berta ; Matalonga, Leslie ; Martorell, Loreto...
Journal of Neuromuscular Diseases. 11 (2024) 3 - p. 647-653 , 2024

Link: https://doi.org/10.3233/..

3

Digenic inheritance involving a muscle-specific protein kin..:

Töpf, Ana ; Cox, Dan ; Zaharieva, Irina T....
Nature Genetics. 56 (2024) 3 - p. 395-407 , 2024

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

4

HNRNPA1 de novo Variant Associated with Early Childhood Ons..:

Roos, Andreas ; Häusler, Martin ; Kollipara, Laxmikanth...
Journal of Neuromuscular Diseases. , 2024

Link: https://doi.org/10.3233/..

5

CIAO1 loss of function causes a neuromuscular disorder with..:

Maio, Nunziata ; Orbach, Rotem ; Zaharieva, Irina T....
Journal of Clinical Investigation. 134 (2024) 12 - p. , 2024

Link: https://doi.org/10.1172/..

6

Partial loss of desmin expression due to a leaky splice sit..:

Polavarapu, Kiran ; O'Neil, Daniel ; Thompson, Rachel...
Neuromuscular Disorders. 39 (2024) - p. 10-18 , 2024

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

7

An Integrated Transcriptomics and Genomics Approach Detects..:

Segarra-Casas, Alba ; Yépez, Vicente A. ; Demidov, German...
International Journal of Molecular Sciences. 25 (2024) 14 - p. 7793 , 2024

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

8

Novel OBSCN variants associated with a risk to exercise-int..:

Zemorshidi, Fariba ; Töpf, Ana ; Claeys, Kristl G....
Neuromuscular Disorders. 34 (2024) - p. 83-88 , 2024

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

9

Biallelic variants in SNUPN cause a limb girdle muscular dy..:

Iruzubieta, Pablo ; Damborenea, Alberto ; Ioghen, Mihaela...
Brain. 147 (2024) 8 - p. 2867-2883 , 2024

Link: https://doi.org/10.1093/..

10

Rare disease research workflow using multilayer networks el..:

Núñez-Carpintero, Iker ; Rigau, Maria ; Bosio, Mattia...
Nature Communications. 15 (2024) 1 - p. , 2024

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

11

Structural variant calling and clinical interpretation in 6..:

Demidov, German ; Laurie, Steven ; Torella, Annalaura...
European Journal of Human Genetics. 32 (2024) 8 - p. 998-1004 , 2024

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

12

Correction: A Homozygous PPP1R21 Splice Variant Associated ..:

Hentschel, Andreas ; Meyer, Nancy ; Kohlschmidt, Nicolai...
Molecular Neurobiology. 60 (2023) 7 - p. 4164-4164 , 2023

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

13

Unique genotypic pattern in Indian DPAGT1 congenital myasth..:

Polavarapu, Kiran ; Sunitha, Balaraju ; Töpf, Ana...
Journal of the Neurological Sciences. 455 (2023) - p. 122042 , 2023

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

14

Mobile element insertions in rare diseases: a comparative b..:

Wijngaard, Robin ; Demidov, German ; O'Gorman, Luke...
European Journal of Human Genetics. , 2023

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

15

AHomozygous PPP1R21 Splice Variant Associated with Severe D..:

Hentschel, Andreas ; Meyer, Nancy ; Kohlschmidt, Nicolai...
Molecular Neurobiology. 60 (2023) 5 - p. 2602-2618 , 2023

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