Martín, Jean Jacques R.

Top Publications

Top Publications Authored or Co-Authored by "Martín, Jean Jacques R."

• The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12–p21.1

  Nature Genetics, Volume 10, No. 1, Year 1995, Citations 155
• Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia

  American Journal of Human Genetics, Volume 92, No. 2, Year 2013, Citations 150
• Identification of novel GDAP1 mutations causing autosomal recessive Charcot-Marie-Tooth disease

  Neuromuscular Disorders, Volume 13, No. 9, Year 2003, Citations 54
• Molecular genetic analysis of the 17p11.2 region in patients with hereditary neuropathy with liability to pressure palsies (HNPP)

  Human Genetics, Volume 97, No. 1, Year 1996, Citations 32
• Refinement of the locus for autosomal dominant cerebellar ataxia type II to chromosome 3p21.1-14.1

  Human Genetics, Volume 99, No. 2, Year 1997, Citations 21