Birouk, Nazha

Top Publications

Top Publications Authored or Co-Authored by "Birouk, Nazha"

• Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma

  American Journal of Human Genetics, Volume 72, No. 5, Year 2003, Citations 278
• Charcot-Marie-Tooth disease type 1A with 17p11.2 duplication. Clinical and electrophysiological phenotype study and factors influencing disease severity in 119 cases

  Brain, Volume 120, No. 5, Year 1997, Citations 250
• X-linked Charcot-Marie-Tooth disease with connexin 32 mutations: Clinical and electrophysiologic study

  Neurology, Volume 50, No. 4, Year 1998, Citations 167
• Spectrum of clinical and electrophysiologic features in HNPP patients with the 17p11.2 deletion

  Neurology, Volume 52, No. 7, Year 1999, Citations 159
• Clinical, electrophysiological and molecular genetic characteristics of 93 patients with X-linked Charcot-Marie-Tooth disease

  Brain, Volume 124, No. 10, Year 2001, Citations 126