| Issue |
Section |
Title |
File |
| Vol 2, No 3 (2012) |
ORIGINAL REPORTS |
Clinical and electromyographic criteria for the diagnosis of hereditary myotonic syndromes |
(Rus)
|
| Vol 5, No 1 (2015) |
CLINICAL DISCUSSION |
A familial case of segregation of motor sensory neuropathy type 1B with multiple exostoses in monozygous twins |
(Rus)
|
| Vol 5, No 2 (2015) |
CLINICAL DISCUSSION |
Differential diagnosis of mitochondrial neurogastrointestinal encephalomyopathy. First clinical description in Russia |
(Rus)
|
| Vol 5, No 3 (2015) |
CLINICAL DISCUSSION |
Late-onset Pompe disease with phenotype of the limb-girdle muscular dystrophy |
(Rus)
|
| Vol 6, No 1 (2016) |
CLINICAL DISCUSSION |
A case of Becker myotonia with pseudodominant inheritance: сurrent approaches to the differential diagnosis of Thomsen’s and Becker's myotonia congenita |
(Rus)
|
| Vol 6, No 2 (2016) |
ORIGINAL REPORTS |
Spectrum of sonographic changes in hereditary motor and sensory neuropathy with autosomal dominant and X-linked inheritance |
(Rus)
|
| Vol 7, No 3 (2017) |
ORIGINAL REPORTS |
Clinical and genetic characteristics of autosomal recessive axonal neuropathy with neuromyotonia in Russian patients |
(Rus)
|
| Vol 8, No 2 (2018) |
CLINICAL DISCUSSION |
A case of hereditary motor and sensory neuropathy type IVA with unusual genealogy |
(Rus)
|
| Vol 9, No 3 (2019) |
CLINICAL DISCUSSION |
Infantile and early childhood onset of mitochondrial myopathy due to mutations in the TK2 gene with a phenotype of spinal muscular atrophy 5q: the first cases in Russia |
(Rus)
|
| Vol 10, No 2 (2020) |
ORIGINAL REPORTS |
Clinical and genetic characteristics of Charcot–Marie–Tooth disease type 4D (type Lom) in Russia |
(Rus)
|
| Vol 12, No 2 (2022) |
ORIGINAL REPORTS |
Myotonia and myotonic discharges of dystrophic myotonia type 1 at the first decade onset: a literature review and data of the case series |
(Rus)
|
| Vol 12, No 4 (2022) |
ORIGINAL REPORTS |
A new mutation in the TYMP-gene: clinical and morphological characteristics of a patient with MNGIE syndrome |
(Rus)
|
| Vol 14, No 2 (2024) |
ORIGINAL REPORTS |
Cognitive and emotional disturbances in adult patients with myotonic dystrophy type 1 |
(Rus)
|
