Fingerprint The fingerprint is based on mining the text of the scientific documents related to the associated persons. Based on that an index of weighted terms is created, which defines the key subjects of research unit

Spinal Muscular Atrophy Medicine & Life Sciences
Stroke Medicine & Life Sciences
Pediatrics Medicine & Life Sciences
Duchenne Muscular Dystrophy Medicine & Life Sciences
Sickle Cell Anemia Medicine & Life Sciences
Nemaline Myopathies Medicine & Life Sciences
Mutation Medicine & Life Sciences
Muscular Dystrophies Medicine & Life Sciences

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Research Output 1990 2018

Autoimmune Movement Disorders in Children

Stredny, C. M. & Waugh, J. L. Jan 1 2018 (Accepted/In press) In : Seminars in Pediatric Neurology.

Research output: Contribution to journalArticle

Movement Disorders
Nervous System Diseases
Autoimmune Diseases

Clinical and molecular spectrum of thymidine kinase 2-related mtDNA maintenance defect

Wang, J., Kim, E., Dai, H., Stefans, V., Vogel, H., Al Jasmi, F., Schrier Vergano, S. A., Castro, D., Bernes, S., Bhambhani, V., Long, C., El-Hattab, A. W. & Wong, L. J. Jun 1 2018 In : Molecular Genetics and Metabolism. 124, 2, p. 124-130 7 p.

Research output: Contribution to journalArticle

PL/1 (programming language)
Mitochondrial DNA
Muscular Diseases
Differential Diagnosis
1 Citations

Development of Intrathecal AAV9 Gene Therapy for Giant Axonal Neuropathy

Bailey, R. M., Armao, D., Nagabhushan Kalburgi, S. & Gray, S. J. Jun 15 2018 In : Molecular Therapy - Methods and Clinical Development. 9, p. 160-171 12 p.

Research output: Contribution to journalArticle

Giant Axonal Neuropathy
Genetic Therapy
Intermediate Filaments
Clinical Trials, Phase I
Viral Genes