Tulinius, Már

Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy

Finkel, R. S., Mercuri, E., Darras, B. T., Connolly, A. M., Kuntz, N. L., Kirschner, J., Chiriboga, C. A., Saito, K., Servais, L., Tizzano, E., et al. (2017) · New England Journal of Medicine

Neurogenetic and Muscular Disorders ResearchAmyotrophic Lateral Sclerosis Research

Cited by 2,337

Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy

Mercuri, E., Darras, B. T., Chiriboga, C. A., Day, J. W., Campbell, C., Connolly, A. M., Iannaccone, S. T., Kirschner, J., Kuntz, N. L., Saito, K., et al. (2018) · New England Journal of Medicine

Neurogenetic and Muscular Disorders ResearchLysosomal Storage Disorders Research

Cited by 1,433

FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study

Suomalainen, A., Elo, J. M., Pietiläinen, K. H., Hakonen, A. H., Sevastianova, K., Korpela, M., Isohanni, P., Marjavaara, S. K., Tyni, T., Kiuru-Enari, S., et al. (2011) · The Lancet Neurology

Metabolism and Genetic DisordersMitochondrial Function and Pathology

Cited by 427

Progressive Increase of the Mutated Mitochondrial DNA Fraction in Kearns-Sayre Syndrome

Larsson, N.-G., Holme, E., Kristiansson, B., Oldfors, A., & Tulinius, M. (1990) · Pediatric Research

Mitochondrial Function and PathologyMetabolism and Genetic Disorders

Cited by 324

Autism spectrum conditons in myotonic dystrophy type 1: A study on 57 individuals with congenital and childhood forms

Ekström, A., Hakenäs‐Plate, L., Samuelsson, L., Tulinius, M., & Wentz, E. (2008) · American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Genetic Neurodegenerative DiseasesGenetics and Neurodevelopmental Disorders

Cited by 136

Succinate‐CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1 : phenotype and genotype correlations in 71 patients

Carrozzo, R., Verrigni, D., Rasmussen, M., de Coo, R., Amartino, H., Bianchi, M., Buhas, D., Mesli, S., Naess, K., Born, A. P., et al. (2016) · Journal of Inherited Metabolic Disease

Metabolism and Genetic DisordersMitochondrial Function and Pathology

Cited by 90