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Human Molecular Genetics|May 19, 2012
Mutant superoxide dismutase-1 indistinguishable from wild-type causes ALSMatthis Synofzik, Dario Ronchi, Isil Keskin, et al.
European Journal of Human Genetics : EJHG|December 23, 2011
The novel mitochondrial tRNAAsn gene mutation m.5709T>C produces ophthalmoparesis and respiratory impairmentDario Ronchi, Monica Sciacco, Andreina Bordoni, et al.
Human Molecular Genetics|October 11, 2019
Loss of the nucleoporin Aladin in central nervous system and fibroblasts of Allgrove SyndromeGiacomo Bitetto, Dario Ronchi, Sara Bonato, et al.
Biochemical and Biophysical Research Communications|August 9, 2011
Unusual adult-onset Leigh syndrome presentation due to the mitochondrial m.9176T>C mutationDario Ronchi, Andreina Bordoni, Alessandra Cosi, et al.
Archives of Neurology|July 14, 2010
Mitochondrial respiratory chain dysfunction in muscle from patients with amyotrophic lateral sclerosisVeronica Crugnola, Costanza Lamperti, Valeria Lucchini, et al.
International Journal of Molecular Sciences|March 29, 2023
Extracellular Matrix Disorganization and Sarcolemmal Alterations in COL6-Related Myopathy Patients with New Variants of COL6 GenesSimona Zanotti, Francesca Magri, Sabrina Salani, et al.
The Journal of Clinical Investigation|September 5, 2008
Neural stem cell transplantation can ameliorate the phenotype of a mouse model of spinal muscular atrophyStefania Corti, Monica Nizzardo, Martina Nardini, et al.
Journal of the Neurological Sciences|June 22, 2011
Two novel mutations in PEO1 (twinkle) gene associated with chronic external ophthalmoplegiaDario Ronchi, Elisa Fassone, Andreina Bordoni, et al.
Frontiers in Genetics|May 29, 2026
MYBPC1-associated congenital myopathy with tremor: further delineation of the clinical and pathological phenotype in the first Italian caseDaniele Velardo, Claudia Alberti, Delia Gagliardi, et al.
Biochimica Et Biophysica Acta|January 11, 2011
Mitochondrial defect and PGC-1α dysfunction in parkin-associated familial Parkinson's diseaseConsiglia Pacelli, Domenico De Rasmo, Anna Signorile, et al.
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