AbigailSchwaedeMD

PubMed

• A case report of riboflavin transporter deficiency: A novel heterozygous pathogenic variant in thegene.
  Elizabeth S Tranel, Bridget McGowan, Andy Drackley, Leon G Epstein, Vamshi K Rao, Nancy L Kuntz, Abigail N Schwaede> ;Molecular Genetics and Metabolism Reports. 2024 Mar 1
• 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., Krosschell, K., Rao, V., Kuntz, N., Schwaede, A.> ;Journal of Clinical Medicine. 2024 Feb 6
• Axonal polyneuropathy and ataxia in children: consider Perrault Syndrome, a case report.
  Hannah E Munson, Lenika De Simone, Abigail Schwaede, Avanti Bhatia, Divakar S Mithal, Nancy Young, Nancy Kuntz, Vamshi K Rao> ;BMC Medical Genomics. 2023 Nov 6
• 2 citations
  AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model.
  Ruizhi Deng, Eva Medico-Salsench, Anita Nikoncuk, Reshmi Ramakrishnan, Kristina Lanko, Nikolas A Kühn, Herma C van der Linde, Sarah Lor-Zade, Fatimah Albuainain, Yuwei...> ;Acta Neuropathologica. 2023 Aug 1
• Outcome Measures for COL6 and LAMA2-Related Dystrophies.
  Abigail Nancy Schwaede, Nancy L. Kuntz> ;Pediatric Neurology Briefs. 2020 Dec 4
• 1 citations
  Utility of Repetitive Nerve Stimulation in Myopathies.
  Abigail Nancy Schwaede, Amber N Buehner, Vamshi K. Rao> ;Pediatric Neurology Briefs. 2020 Feb 25
• 30 citations
  Exploring mTOR inhibition as treatment for mitochondrial disease
  Abigail Sage‐Schwaede, Kristin Engelstad, Rachel Salazar, Angela Curcio, Alexander Khandji, James Garvin, Darryl C. De Vivo> ;Annals of Clinical and Translational Neurology. 2019 Aug 6
• 25 citations
  The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations.
  Pedro M. Rodríguez Cruz, Judith Cossins, Eduardo de Paula Estephan, Francina Munell, Kathryn Selby, Michio Hirano, Reza Maroofin, Mohammad Yahya Vahidi Mehrjardi, Gabr...> ;Brain. 2019 Jun 1
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