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The Early Care (0–3 Years) In Duchenne Muscular Dystrophy Meeting Report

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

The Early Care (0-3 Years) In Duchenne Muscular Dystrophy Meeting Report.

Findings from the Longitudinal CINRG Becker Natural History Study

Expansion of the phenotypic spectrum associated with pathogenic missense variation in DHX16.

Andy Drackley, Alexander Ing, Kai Lee Yap, Lenika De Simone, Nancy Kuntz, Pamela Rathbun, Safa Rahmani, Vamshi K. Rao

Effects of gene replacement therapy with resamirigene bilparvovec (AT132) on skeletal muscle pathology in X-linked myotubular myopathy: results from a substudy of the ASPIRO open-label clinical trial.

Michael W. Lawlor, A. Reghan Foley, Alan H. Beggs, Andreea M. Seferian, Astrid Blaschek, Barbara K. Smith, Benedikt Schoser, Bryan Sepulveda, Caroline A. Sewry, Carsten G. Bönnemann, Chanchal Sadhu, Clive Wells, Dimah N. Saade, Edward Conner, Emily Ott, Emma S. James, Etsuko Tsuchiya, Fatbardha Varfaj, Heather Gordish-Dressman, Hui Meng, James J. Dowling, Jun Lee, Karra A. Jones, Margaret Beatka, Mariah J. Prom, Mark Vanden Avond, Marta Margeta, Nancy L. Kuntz, Paul Krakau, Perry B. Shieh, Salvador Rico, Sarah Christensen, Sarah Neuhaus, Suresh N. Kumar, Susan Danielson, Suyash Prasad, Ummulwara R. Qasim, Weston Miller, Wolfgang Müller-Felber

Safety and efficacy of gene replacement therapy for X-linked myotubular myopathy (ASPIRO): a multinational, open-label, dose-escalation trial

Findings from the Longitudinal CINRG Becker Natural History Study.

Safety and efficacy of gene replacement therapy for X-linked myotubular myopathy (ASPIRO): a multinational, open-label, dose-escalation trial.

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