Dario Ronchi
Milan, Italy
Last Updated: 09/26/2026
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Found 124 publications
Headache in mitochondrial diseases: From migraine to stroke-like episodes.
Journal: Headache
Published: February 25, 2026
Late-onset severe axonal polyneuropathy in mut0 methylmalonic acidemia after liver-kidney transplantation: a genotype-informed case report.
Journal: BMC neurology
Published: February 19, 2026
MYBPC1-associated congenital myopathy with tremor: further delineation of the clinical and pathological phenotype in the first Italian case.
Journal: Frontiers in genetics
Published: February 11, 2026
Glycogenin-1 deficiency: a case report and review of the literature.
Journal: Frontiers in genetics
Published: December 29, 2025
Recurrent CAPN3 p.Asp753Asn Variant Supports a Potential Dominant Calpainopathy with Variable Clinical Expressivity.
Journal: International journal of molecular sciences
Published: October 31, 2025
Expanding the genetic landscape of Dusty Core Disease: new RYR1 variants in Italian patients.
Journal: European journal of human genetics : EJHG
Published: August 08, 2025
Natural history of familial cerebral cavernous malformations: the CCM_Italia cohort study.
Journal: Frontiers in neurology
Published: July 17, 2025
High Prevalence of SOD1 Pathogenic Variants in the UK Biobank: Implications for Early Intervention in Amyotrophic Lateral Sclerosis.
Journal: Annals of neurology
Published: June 27, 2025
Ataxia With Vitamin E Deficiency Syndrome and a Novel TTPA Variant: A Paired Case Report.
Journal: Neurology. Genetics
Published: April 21, 2025
Case Report: Incidental late-onset Pompe disease diagnosis in a man with no clinical and instrumental evidence of neuromuscular dysfunction.
Journal: Frontiers in genetics
Published: February 10, 2025
A novel DNM2 variant associated with centronuclear myopathy: a case report.
Journal: Frontiers in genetics
Published: January 20, 2025
Last Updated: 09/26/2026