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Töpf, Ana
270  results:
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1

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/..
 
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2

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

Roos, Andreas ; Häusler, Martin ; Kollipara, Laxmikanth...
Journal of Neuromuscular Diseases.  11 (2024)  5 - p. 1131-1137 , 2024
Link: https://doi.org/10.3233/..
 
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3

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/..
 
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4

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/..
 
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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/..
 
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6

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/..
 
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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/..
 
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8

Loss-of-function variants inJPH1cause congenital myopathy w..:

Johari, Mridul ; Topf, Ana ; Folland, Chiara...
Journal of Medical Genetics.  , 2024
Link: https://doi.org/10.1136/..
 
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9

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/..
 
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10

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/..
 
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11

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/..
 
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12

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/..
 
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13

Remote visualization of large-scale genomic alignments for ..:

Corvò, Alberto ; Matalonga, Leslie ; Spalding, Dylan...
Cell Genomics.  3 (2023)  2 - p. 100246 , 2023
Link: https://doi.org/10.1016/..
 
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14

Glycogen storage disease type IV without detectable polyglu..:

Oliwa, Agata ; Langlands, Gavin ; Sarkozy, Anna...
Neuromuscular Disorders.  33 (2023)  9 - p. 98-105 , 2023
Link: https://doi.org/10.1016/..
 
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15

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/..
 
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