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Gangfuß, Andrea
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1

Biallelic truncating variants in PACSIN3 cause childhood-on..:

Distelmaier, Felix ; Sezer, Abdullah ; Helm, Christina...
Brain.  , 2024
Link: https://doi.org/10.1093/..
 
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2

Distinct neonatal hyperammonemia and liver synthesis dysfun..:

Kirchberg, Ina ; Lainka, Elke ; Gangfuß, Andrea...
Frontiers in Pediatrics.  12 (2024)  - p. , 2024
Link: https://doi.org/10.3389/..
 
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3

Pediatric Community-Acquired Brain Abscesses: A Single-cent..:

Lu, Kevin Hai-Ning ; Bruns, Nora ; Pentek, Christina...
Pediatric Infectious Disease Journal.  43 (2024)  6 - p. e214-e217 , 2024
Link: https://doi.org/10.1097/..
 
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4

Proteomic studies in VWA1‐related neuromyopathy allowed new..:

Athamneh, Mohammed ; Daya, Nassam ; Hentschel, Andreas...
Journal of Cellular and Molecular Medicine.  28 (2024)  8 - p. , 2024
Link: https://doi.org/10.1111/..
 
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5

A Homozygous NDUFS6 Variant Associated with Neuropathy and ..:

Gangfuß, Andrea ; Rating, Philipp ; Ferreira, Tomas...
Journal of Neuromuscular Diseases.  11 (2024)  2 - p. 485-491 , 2024
Link: https://doi.org/10.3233/..
 
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6

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/..
 
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7

Periostin as a blood biomarker of muscle cell fibrosis, car..:

Nguyen, Chi D. L. ; Jimenez-Moreno, Aura Cecilia ; Merker, Monika...
Journal of Neurology.  , 2023
Link: https://doi.org/10.1007/..
 
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8

Microscopic and Biochemical Hallmarks of BICD2-Associated M..:

Unger, Andreas ; Roos, Andreas ; Gangfuß, Andrea...
International Journal of Molecular Sciences.  24 (2023)  7 - p. 6808 , 2023
Link: https://doi.org/10.3390/..
 
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9

Amyotrophic lateral sclerosis—Motor neuron disease with a w..:

Gangfuß, Andrea ; Kohl, Zacharias
Der Nervenarzt.  94 (2023)  6 - p. 494-500 , 2023
Link: https://doi.org/10.1007/..
 
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10

Bi-allelic variants of FILIP1 cause congenital myopathy, dy..:

Roos, Andreas ; van der Ven, Peter F M ; Alrohaif, Hadil...
Brain.  146 (2023)  10 - p. 4200-4216 , 2023
Link: https://doi.org/10.1093/..
 
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11

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/..
 
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12

High Prevalence of Alternative Diagnoses in Children and Ad..:

Goretzki, Sarah C. ; Brasseler, Maire ; Dogan, Burcin...
Viruses.  15 (2023)  2 - p. 579 , 2023
Link: https://doi.org/10.3390/..
 
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13

New Insights into the Neuromyogenic Spectrum of a Gain of F..:

Kölbel, Heike ; Kraft, Florian ; Hentschel, Andreas...
Genes.  13 (2022)  5 - p. 893 , 2022
Link: https://doi.org/10.3390/..
 
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14

Proteomic and morphological insights and clinical presentat..:

Gangfuß, Andrea ; Hentschel, Andreas ; Heil, Lorena...
Molecular Genetics and Metabolism.  136 (2022)  3 - p. 226-237 , 2022
Link: https://doi.org/10.1016/..
 
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15

Identification of a novel homozygoussynthesis of cytochrome..:

Gangfuß, Andrea ; Hentschel, Andreas ; Rademacher, Nina...
Human Mutation.  43 (2022)  4 - p. 477-486 , 2022
Link: https://doi.org/10.1002/..
 
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