| Issue |
Section |
Title |
File |
| 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 2 (2019) |
ORIGINAL REPORTS |
Clinical and genetic characteristics of ponto-cerebellar hypoplasia caused by mutations in the TSEN54 gene (OMIM: 277470) |
(Rus)
|
| Vol 10, No 1 (2020) |
CLINICAL DISCUSSION |
Clinical and genetic characteristics of X-linked mental retardation 102 type caused by novel mutations in the DDX3X gene (OMIM:300958) |
(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 10, No 4 (2020) |
CLINICAL DISCUSSION |
Clinical and genetic charsteristics of the Bosch–Boonstra–Schaaf syndrome due to novel mutations in the NR2F1 gene |
(Rus)
|
| Vol 11, No 1 (2021) |
ORIGINAL REPORTS |
Clinical and genetic characteristics of type 3 lissencephaly caused by a mutation in the TUBA1A gene (OMIM: 611603) |
(Rus)
|
| Vol 11, No 1 (2021) |
ORIGINAL REPORTS |
Diversity of VCP-related phenotypes: case report and literature review |
(Rus)
|
| Vol 11, No 4 (2021) |
CLINICAL DISCUSSION |
POLR3A-related hypomyelinating leukodystrophy: case report and literature review |
(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 3 (2022) |
CLINICAL DISCUSSION |
Juvenile amyotrophic lateral sclerosis type 4: case report and review |
(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) |
ORIGINAL REPORTS |
Phenotypic variability in TRPV4-associated neuropathies and neuronopathies: a case series |
(Rus)
|
| Vol 13, No 3 (2023) |
CLINICAL DISCUSSION |
Clinical and genetic characteristics of the first Russian patient with a syndrome of craniofacial dysmorphia-deafness-anomalies of the upper limbs, caused by a mutation in the PAX3 gene |
(Rus)
|
| Vol 13, No 3 (2023) |
CLINICAL DISCUSSION |
Clinical and genetic characteristics of type 7 distal arthrogryposis caused by a pathogenic variant in the MYH8 gene |
(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)
|
| Vol 14, No 3 (2024) |
LECTURES AND REVIEWS |
Muscular dystrophy associated with the DMD gene in women |
(Rus)
|
| Vol 15, No 1 (2025) |
CLINICAL DISCUSSION |
Phenotype expansion, or double trouble: the combination of congenital disorder of glycosylation type 1i and Joubert syndrome type 17 |
(Rus)
|
