Tomé, Fernando M.S.

Top Publications

Top Publications Authored or Co-Authored by "Tomé, Fernando M.S."

• Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy

  Nature Genetics, Volume 18, No. 2, Year 1998, Citations 654
• Deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy

  Nature, Volume 359, No. 6393, Year 1992, Citations 262
• Primary adhalinopathy: A common cause of autosomal recessive muscular dystrophy of variable severity

  Nature Genetics, Volume 10, No. 2, Year 1995, Citations 197
• The oculopharyngeal muscular dystrophy locus maps to the region of the cardiac α and β myosin heavy chain genes on chromosome 14q11.2-q13

  Human Molecular Genetics, Volume 4, No. 3, Year 1995, Citations 134
• Myoblast transplantation between monozygotic twin girl carriers of Duchenne muscular dystrophy

  Neuromuscular Disorders, Volume 3, No. 5-6, Year 1993, Citations 82