Clinical and genetic characteristics of autosomal recessive axonal neuropathy with neuromyotonia in Russian patients

Eitemau Tebyg

• New allelic variant of autosomal recessive hereditary motor and sensory neuropathy type 2S resulted from mutations in gene IGHMBP2
  gan: E. L. Dadali, et al.
  Cyhoeddwyd: (2016-07-01)
• AUTOSOMAL RECESSIVE PERIPHERAL NEUROPATHY WITH NEUROMYOTONIA (ARAN-NM): DESCRIPTION OF A CLINICAL CASE CONFIRMED BY A MUTATION IN THE HINT1 GENE
  gan: Olga A. Klochkova, et al.
  Cyhoeddwyd: (2017-09-01)
• Clinical and genetic characteristics of Nonaka myopathy (GNE-myopathy) in russian patients
  gan: E. L. Dadali, et al.
  Cyhoeddwyd: (2019-11-01)
• Spectrum of sonographic changes in hereditary motor and sensory neuropathy with autosomal dominant and X-linked inheritance
  gan: E. S. Naumova, et al.
  Cyhoeddwyd: (2016-07-01)
• Clinical and genetic characteristics of Charcot–Marie–Tooth disease type 4D (type Lom) in Russia
  gan: A. F. Murtazina, et al.
  Cyhoeddwyd: (2020-08-01)