| Issue |
Section |
Title |
File |
| Vol 3, No 2 (2013) |
ORIGINAL REPORTS |
Comparative analysis of features phenotype limb-girdle muscular dystrophy 2А and 2I types |
(Rus)
|
| 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) |
CLINICAL DISCUSSION |
Случай диагностики проксимальной спинальной амиотрофии с врожденными переломами |
(Rus)
|
| Vol 5, No 2 (2015) |
CLINICAL DISCUSSION |
Stiff-person syndrome with early onset in infancy |
(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 2 (2016) |
CLINICAL DISCUSSION |
Hereditary motor and sensory neuropathy, caused by mutations in the NEFL gene in a family from Karachaevo-Cherkessia |
(Rus)
|
| Vol 6, No 2 (2016) |
CLINICAL DISCUSSION |
New allelic variant of autosomal recessive hereditary motor and sensory neuropathy type 2S resulted from mutations in gene IGHMBP2 |
(Rus)
|
| Vol 7, No 3 (2017) |
LECTURES AND REVIEWS |
Clinical and genetic characteristics and diagnosis of hereditary variants of neonatal epilepsy |
(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 1 (2018) |
ORIGINAL REPORTS |
Lamb–Shaffer syndrome, deferred outside not described by SOX5 mutation |
(Rus)
|
| Vol 8, No 2 (2018) |
ORIGINAL REPORTS |
Early epileptic encephalopathy associated with SCN2A mutations: clinical and genetic description of eight novel patients |
(Rus)
|
| Vol 8, No 2 (2018) |
ORIGINAL REPORTS |
Spinal muscular atrophy with lower limbs phenotype: clinical and genetic description of novel mutation in the DYNC1H1 gene |
(Rus)
|
| Vol 8, No 3 (2018) |
ORIGINAL REPORTS |
Clinical and genetic characteristics of new allele variants of the Mowat–Wilson syndrome caused by ZEB2 gene mutations |
(Rus)
|
| Vol 9, No 1 (2019) |
CLINICAL DISCUSSION |
Clinical and genetic characteristics of the syndrome of contractures of the limbs and face, hypothony and psychomotor retardation (OMIM: 616 266), caused by mutations in the NALCN gene |
(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 9, No 3 (2019) |
CLINICAL DISCUSSION |
Clinical and genetic characteristics of Nonaka myopathy (GNE-myopathy) in russian patients |
(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 1 (2020) |
CLINICAL DISCUSSION |
Clinical and genetic characteristics of the early 66th type epileptic encephalopathy (literature review and own observation) |
(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 3 (2020) |
CLINICAL DISCUSSION |
Clinical and genetic characteristics of 2 patients from Russia with autosomal-recessive microcephaly type 2, due to mutations of the WDR62 gene (OMIM: 604317) |
(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 2 (2021) |
CLINICAL DISCUSSION |
Clinical and genetic characteristics of distal arthrogryposis caused by mutations in the PIEZO2 gene |
(Rus)
|
| Vol 11, No 3 (2021) |
ORIGINAL REPORTS |
Diagnostic criteria for spinal muscular atrophy 5q |
(Rus)
|
| Vol 11, No 3 (2021) |
CLINICAL DISCUSSION |
Aymé–Gripp syndrome in a Russian patient with a newly detected mutation in the MAF gene |
(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 |
Differential diagnosis of myopathy and multiple epiphysal dysplasia caused by mutations in the COMP gene in children |
(Rus)
(Eng)
|
| Vol 13, No 1 (2023) |
ORIGINAL REPORTS |
Clinical and genetic characteristics and an algorithm for the differential diagnosis of progressive muscular dystrophies that manifest after a period of normal motor development |
(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) |
ORIGINAL REPORTS |
Phenotypic variability in TRPV4-associated neuropathies and neuronopathies: a case series |
(Rus)
|
| Vol 13, No 2 (2023) |
ORIGINAL REPORTS |
Clinical and genetic characteristics of primary hypertrophic osteoarthropathy |
(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 14, No 1 (2024) |
ORIGINAL REPORTS |
Special clinical manifestations and genetic characteristics of schaaf–Yang syndrome in Russian patients |
(Rus)
|
| Vol 14, No 2 (2024) |
ORIGINAL REPORTS |
Expanding the spectrum of clinical and genetic characteristics of distal arthrogryposis type 5 caused by heterozygous variants in the PIEZO2 gene |
(Rus)
(Eng)
|
| 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)
|
