| Issue |
Section |
Title |
File |
| Vol 3, No 3 (2013) |
LECTURES AND REVIEWS |
Proximal spinal muscular atrophy types I-IV: Specific features of molecular genetic diagnosis |
(Rus)
|
| Vol 2, No 1 (2012) |
LECTURES AND REVIEWS |
Genetic heterogeneity of hereditary diseases of nervous system: problems and solutions |
(Rus)
|
| Vol 2, No 3 (2012) |
ORIGINAL REPORTS |
Clinical and electromyographic criteria for the diagnosis of hereditary myotonic syndromes |
(Rus)
|
| Vol 2, No 3 (2012) |
CLINICAL DISCUSSION |
Случай диагностики проксимальной спинальной амиотрофии с врожденными переломами |
(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 3 (2015) |
ORIGINAL REPORTS |
Comparative analysis of phenotypes features in two common genetic variants of limb-girdle muscular dystrophy |
(Rus)
(Eng)
|
| 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 1 (2016) |
CLINICAL DISCUSSION |
Miyoshi myopathy: diagnosis of a familial case of dysferlinopathy |
(Rus)
|
| Vol 6, No 2 (2016) |
CLINICAL DISCUSSION |
Hereditary motor and sensory neuropathy, caused by mutations in the NEFL gene in a family from Karachaevo-Cherkessia |
(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 4 (2019) |
LECTURES AND REVIEWS |
Hereditary transthyretin amyloidosis |
(Rus)
|
| Vol 9, No 4 (2019) |
CLINICAL DISCUSSION |
Spinal and bulbar muscular atrophy with pseudomyotonia phenomena: a clinical case report |
(Rus)
|
| Vol 10, No 1 (2020) |
LECTURES AND REVIEWS |
Clinical and genetic characteristics of congenital muscular dystrophies (Part 1) |
(Rus)
|
| Vol 10, No 2 (2020) |
LECTURES AND REVIEWS |
Clinical and genetic characteristics of congenital muscular dystrophies (part 2) |
(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 10, No 4 (2020) |
ORIGINAL REPORTS |
Diagnostic utility of exome sequencing for inherited peripheral neuropathies |
(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 13, No 1 (2023) |
ORIGINAL REPORTS |
Change in the spectrum of detected mutations in the DMD gene depending on the methodological capabilities of the laboratory |
(Rus)
|
| Vol 13, No 2 (2023) |
LECTURES AND REVIEWS |
Consensus concept of modern effective therapy for Duchenne muscular dystrophy |
(Rus)
|
| Vol 13, No 2 (2023) |
LECTURES AND REVIEWS |
Molecular-genetic basis of Rubinstein–Taybi syndrome |
(Rus)
|
| Vol 13, No 3 (2023) |
ORIGINAL REPORTS |
Socioeconomic efficiency of neonatal screening for spinal muscular atrophy in the Russian Federation |
(Rus)
|
| Vol 13, No 4 (2023) |
LECTURES AND REVIEWS |
Factors modifying the course of spinal muscular atrophy 5q |
(Rus)
|
| Vol 14, No 3 (2024) |
ORIGINAL REPORTS |
Possibility of exon skipping therapy for Duchenne muscular dystrophy in Russian patients: present and future |
(Rus)
|
| Vol 14, No 3 (2024) |
ORIGINAL REPORTS |
SMArt Retro study: a retrospective data analysis of the Russian registry of patients with spinal muscular atrophy |
(Rus)
(Eng)
|
