Research Output per year
Research Output per year
Personal profile
Expertise related to UN Sustainable Development Goals
In 2015, UN member states agreed to 17 global Sustainable Development Goals (SDGs) to end poverty, protect the planet and ensure prosperity for all. This person’s work contributes towards the following SDG(s):
Education/Academic qualification
Medicine, MD, Rutgers University
… → 2014
Medicine, MD, Rutgers University.
… → 2014
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Dive into the research topics where Abigail Nancy Schwaede is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Collaborations and top research areas from the last five years
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
Research Output
- 8 Article
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A case report of riboflavin transporter deficiency: A novel heterozygous pathogenic variant in the SLC52A3 gene
Tranel, E. S., McGowan, B., Drackley, A., Epstein, L. G., Rao, V. K., Kuntz, N. L. & Schwaede, A. N., Mar 2024, In: Molecular Genetics and Metabolism Reports. 38, 101051.Research output: Contribution to journal › Article › peer-review
Open Access -
Prevalence of Attention-Deficit/Hyperactivity Disorder and Autism Spectrum Disorder in Individuals With Dystrophinopathy at a Tertiary Care Center in Chicago
Diehl, E., O'Neill, M., Gray, L., Schwaede, A., Kuntz, N. & Rao, V. K., Sep 2024, In: Pediatric neurology. 158, p. 94-99 6 p.Research output: Contribution to journal › Article › peer-review
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Use of the Assessment of Caregiver Experience with Neuromuscular Disease (ACEND) in Spinal Muscular Atrophy
Brown, L., Hoffman, K., Corbo-Galli, C., Dong, S., Zumpf, K., Weigel, C., Blomgren, C., Munson, H., Bidwell, J., Rao, V., Kuntz, N. L., Schwaede, A. & Krosschell, K. J., Feb 2024, In: Journal of Clinical Medicine. 13, 4, 921.Research output: Contribution to journal › Article › peer-review
Open Access -
AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model
Deng, R., Medico-Salsench, E., Nikoncuk, A., Ramakrishnan, R., Lanko, K., Kühn, N. A., van der Linde, H. C., Lor-Zade, S., Albuainain, F., Shi, Y., Yousefi, S., Capo, I., van den Herik, E. M., van Slegtenhorst, M., van Minkelen, R., Geeven, G., Mulder, M. T., Ruijter, G. J. G., Lütjohann, D. & Jacobs, E. H. & 32 others, , Aug 2023, In: Acta Neuropathologica. 146, 2, p. 353-368 16 p.Research output: Contribution to journal › Article › peer-review
Open Access12 Scopus citations -
Axonal polyneuropathy and ataxia in children: consider Perrault Syndrome, a case report
Munson, H. E., De Simone, L., Schwaede, A., Bhatia, A., Mithal, D. S., Young, N., Kuntz, N. & Rao, V. K., Dec 2023, In: BMC Medical Genomics. 16, 1, 278.Research output: Contribution to journal › Article › peer-review
Open Access2 Scopus citations