Bertini, Enrico

Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature

Rice, G. I., Kasher, P. R., Forte, G. M. A., Mannion, N. M., Greenwood, S. M., Szynkiewicz, M., Dickerson, J. E., Bhaskar, S. S., Zampini, M., Briggs, T. A., et al. (2012) · Nature Genetics

RNA regulation and diseaseinterferon and immune responses

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miRNAs as serum biomarkers for Duchenne muscular dystrophy

Cacchiarelli, D., Legnini, I., Martone, J., Cazzella, V., D'Amico, A., Bertini, E., & Bozzoni, I. (2011) · EMBO Molecular Medicine

Muscle Physiology and DisordersNeurogenetic and Muscular Disorders Research

Cited by 279

SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness

Carrozzo, R., Dionisi-Vici, C., Steuerwald, U., Lucioli, S., Deodato, F., Di Giandomenico, S., Bertini, E., Franke, B., Kluijtmans, L. A. J., Meschini, M. C., et al. (2007) · Brain

Metabolism and Genetic DisordersMitochondrial Function and Pathology

Cited by 208

GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex

Bahi-Buisson, N., Poirier, K., Boddaert, N., Fallet-Bianco, C., Specchio, N., Bertini, E., Caglayan, O., Lascelles, K., Elie, C., Rambaud, J., et al. (2010) · Brain

Fetal and Pediatric Neurological DisordersGenetics and Neurodevelopmental Disorders

Cited by 144

Effectiveness and safety of the tri-iodothyronine analogue Triac in children and adults with MCT8 deficiency: an international, single-arm, open-label, phase 2 trial

Groeneweg, S., Peeters, R. P., Moran, C., Stoupa, A., Auriol, F., Tonduti, D., Dica, A., Paone, L., Rozenkova, K., Malikova, J., et al. (2019) · The Lancet Diabetes & Endocrinology

Thyroid Disorders and TreatmentsMetabolism and Genetic Disorders

Cited by 129

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

Randomized phase 2 trial and open-label extension of domagrozumab in Duchenne muscular dystrophy

Wagner, K. R., Abdel-Hamid, H. Z., Mah, J. K., Campbell, C., Guglieri, M., Muntoni, F., Takeshima, Y., McDonald, C. M., Kostera-Pruszczyk, A., Karachunski, P., et al. (2020) · Neuromuscular Disorders

Muscle Physiology and DisordersNeurogenetic and Muscular Disorders Research

Cited by 67

Whole genome sequencing diagnostic yield for paediatric patients with suspected genetic disorders: systematic review, meta-analysis, and GRADE assessment

Nurchis, M. C., Altamura, G., Riccardi, M. T., Radio, F. C., Chillemi, G., Bertini, E. S., Garlasco, J., Tartaglia, M., Dallapiccola, B., & Damiani, G. (2023) · Archives of Public Health

Genomics and Rare DiseasesMetabolism and Genetic Disorders

Cited by 65

High dose immunoglobulin IV treatment in adrenoleukodystrophy.

Cappa, M., Bertini, E., del Balzo, P., Cambiaso, P., Di Biase, A., & Salvati, S. (1994) · Journal of Neurology, Neurosurgery & Psychiatry

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 44

Exome sequencing in a family with intellectual disability, early onset spasticity, and cerebellar atrophy detects a novel mutation in EXOSC3

Zanni, G., Scotton, C., Passarelli, C., Fang, M., Barresi, S., Dallapiccola, B., Wu, B., Gualandi, F., Ferlini, A., Bertini, E., et al. (2013) · neurogenetics

Hereditary Neurological DisordersGenetic Neurodegenerative Diseases

Cited by 41

Genome sequencing in persistently unsolved white matter disorders

Helman, G., Lajoie, B. R., Crawford, J., Takanohashi, A., Walkiewicz, M., Dolzhenko, E., Gross, A. M., Gainullin, V. G., Bent, S. J., Jenkinson, E. M., et al. (2020) · Annals of Clinical and Translational Neurology

Genomics and Rare DiseasesHereditary Neurological Disorders

Cited by 39

Natural history of a cohort of ABCD 1 variant female carriers

Schirinzi, T., Vasco, G., Aiello, C., Rizzo, C., Sancesario, A., Romano, A., Favetta, M., Petrarca, M., Paone, L., Castelli, E., et al. (2019) · European Journal of Neurology

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 27