Roméro, Norma Beatriz

Top Publications

Top Publications Authored or Co-Authored by "Roméro, Norma Beatriz"

• Mutations of the FHL1 Gene Cause Emery-Dreifuss Muscular Dystrophy

  American Journal of Human Genetics, Volume 85, No. 3, Year 2009, Citations 212
• Primary adhalinopathy: A common cause of autosomal recessive muscular dystrophy of variable severity

  Nature Genetics, Volume 10, No. 2, Year 1995, Citations 197
• Early onset collagen VI myopathies: Genetic and clinical correlations

  Annals of Neurology, Volume 68, No. 4, Year 2010, Citations 115
• A phase i trial of adeno-associated virus serotype 1-γ-sarcoglycan gene therapy for limb girdle muscular dystrophy type 2C

  Brain, Volume 135, No. 2, Year 2012, Citations 85
• New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families

  Neurogenetics, Volume 5, No. 1, Year 2004, Citations 85