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A case report of riboflavin transporter deficiency: A novel heterozygous pathogenic variant in the SLC52A3 gene.

Elizabeth S. Tranel, Abigail N. Schwaede, Andy Drackley, Bridget McGowan, Leon G. Epstein, Nancy L. Kuntz, Vamshi K. Rao

Use of the Assessment of Caregiver Experience with Neuromuscular Disease (ACEND) in Spinal Muscular Atrophy.

Laurey Brown, Abigail Schwaede, Chiara Corbo-Galli, Christa Weigel, Colleen Blomgren, Hannah Munson, Jessa Bidwell, Katelyn Zumpf, Katie Hoffman, Kristin J. Krosschell, Nancy L. Kuntz, Siyuan Dong, Vamshi Rao

Axonal polyneuropathy and ataxia in children: consider Perrault Syndrome, a case report.

Hannah E. Munson, Abigail Schwaede, Avanti Bhatia, Divakar S. Mithal, Lenika De Simone, Nancy Kuntz, Nancy Young, Vamshi K. Rao

AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model.

Ruizhi Deng, Abigail Schwaede, Adam Jackson, Aida M. Bertoli-Avella, Alistair T. Pagnamenta, Anita Nikoncuk, Arjan Bouman, Catarina Pereira, Dieter Lütjohann, Dilek Colak, Edwin H. Jacobs, Eva Medico-Salsench, Evita Medici van den Herik, Fatimah Albuainain, Geert Geeven, George J. G. Ruijter, Hanan AlQudairy, Henry Houlden, Herma C. van der Linde, Ivan Capo, Joseph G. Gleeson, Kay Metcalfe, Kristina Lanko, Lenika De Simone, Leslie E. Sanderson, Lies H. Hoefsloot, Maha S. Zaki, Mahmoud Issa, Marjon van Slegtenhorst, Maysoon Alsagob, Mohammed AlMuhaizea, Monique T. Mulder, Muhammad Umair, Namik Kaya, Nancy Kuntz, Nikolas A. Kühn, Peter Bauer, Reshmi Ramakrishnan, Reza Maroofian, Rick van Minkelen, Rob Willemsen, Roberta Trunzo, Safdar Abbas, Sarah Lor-Zade, Siddharth Banka, Soheil Yousefi, Stefan T. Arold, Tahsin Stefan Barakat, Timothy Blake Palculict, Tjakko J. van Ham, Vasiliki Karageorgou, Yuwei Shi

Longitudinal Assessment of Timed Function Tests in Ambulatory Individuals with SMA Treated with Nusinersen

Longitudinal Assessment of Timed Function Tests Over Time in Ambulatory Individuals with SMA Treated with Nusinersen.

Krosschell, Kristin J; Brown, Laurey; Hoffman, Katie; Zumpf, Katelyn B; Munson, Hannah; Bidwell, Jessa; Schulte, Duncan P; Schwaede, Abigail N; Buehner, Amber N; DiDonato, Christine J; Kuntz, Nancy L; Rao, Vamshi K

Outcome Measures for COL6 and LAMA2-Related Dystrophies.

Abigail N. Schwaede, Nancy L. Kuntz

Utility of Repetitive Nerve Stimulation in Myopathies.

Abigail Nancy Schwaede, Amber Buehner, Vamshi Rao

Exploring mTOR inhibition as treatment for mitochondrial disease

The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations