Spinal muscular atrophy: a perspective outlook

QR Code

Spinal muscular atrophy: a perspective outlook

Background. Recent decades have witnessed a leap in understanding the molecular genetic bases of spinal muscular atrophy for a considerable improvement in diagnosis and treatment of this disease and development of innovative therapies for correcting genetic deﬁciencies. Given scarcity of etiotropic...

Full description

Saved in:

Bibliographic Details
Main Authors:	M. R. Shaimurzin, I. S. Lutskiy
Format:	Article
Language:	Russian
Published:	Ministry of Healthcare of the Russian Federation. “Kuban State Medical University” 2020-12-01
Series:	Кубанский научный медицинский вестник
Subjects:	spinal muscular atrophy rhs and mhs scales electromyography therapy
Online Access:	https://ksma.elpub.ru/jour/article/view/2288
Tags:	Add Tag No Tags, Be the first to tag this record!

Similar Items

The social-economic burden of spinal muscular atrophy in Russia
by: A. S. Kolbin, et al.
Published: (2021-02-01)

Experience of Nusinersen in children with proximal spinal muscular atrophy 5q in Moscow region
by: M. V. Panteleeva
Published: (2022-12-01)

Adult spinal muscular atrophy: problems of early diagnosis
by: Yu. A. Shpilyukova, et al.
Published: (2022-12-01)

Experience with nusinersen as a pathogenetic therapy in adult patients with spinal muscular atrophy 5q in the Republic of Bashkortostan
by: S. V. Umutbaev, et al.
Published: (2023-03-01)

Teriparatide in sequental treatment of osteoporosis in a patient with spinal muscular atrophy: a case report and literature review
by: Matej Rakusa, et al.
Published: (2025-09-01)

Diagnostic criteria for spinal muscular atrophy 5q
by: I. V. Sharkova, et al.
Published: (2021-12-01)

Proximal spinal muscular atrophy 5q in the Republic of North Ossetia – Alania: population-genetic features, diagnostic problems and treatment prospects
by: I. S. Tebieva, et al.
Published: (2022-06-01)

Health economic evaluation of risdiplam in patients with spinal muscular atrophy
by: А. S. Kolbin, et al.
Published: (2021-10-01)

Results of the Hungarian Newborn Screening Pilot Program for Spinal Muscular Atrophy
by: Krisztina Hegedűs, et al.
Published: (2025-04-01)

Factors modifying the course of spinal muscular atrophy 5q
by: M. A. Akhkiamova, et al.
Published: (2024-01-01)

Spinal and bulbar muscular atrophy with pseudomyotonia phenomena: a clinical case report
by: S. S. Nikitin, et al.
Published: (2020-01-01)

Characteristics of genetic changes in the <i>SMN1</i> gene in spinal muscular atrophy 5q
by: A. V. Dil, et al.
Published: (2022-09-01)

Molecular mechanism of neurodegeneration in spinal muscular atrophy
by: A. I. Vlasenko, et al.
Published: (2024-09-01)

Spinal and bulbar muscular atrophy (Kennedy’s disease): case description
by: A. V. Gavrichenko, et al.
Published: (2020-02-01)

Molecular markers of disease severity and response to nusinersen therapy in 5q spinal muscular atrophy (literature review)
by: K. D. Popov, et al.
Published: (2023-10-01)

Spinal Muscular Atrophy 5q under the Mask of Myopathy: 10 Clinical Cases
by: Sergei A. Kurbatov
Published: (2021-12-01)

Functional class criteria identification in patients with spinal muscular atrophy 5q
by: Yu. O. Papina, et al.
Published: (2024-12-01)

Spinal muscular atrophy with lower limbs phenotype: clinical and genetic description of novel mutation in the DYNC1H1 gene
by: E. L. Dadali, et al.
Published: (2018-07-01)

Proximal spinal muscular atrophy types I-IV: Specific features of molecular genetic diagnosis
by: V. V. Zabnenkova, et al.
Published: (2015-02-01)

Label-free morphology-based phenotypic analysis of spinal and bulbar muscular atrophy muscle cell models
by: Kenji Sakakibara, et al.
Published: (2025-06-01)

Approaches to pathogenetic therapy of spinal muscular atrophy in children and newborns
by: S. B. Artemyeva, et al.
Published: (2024-03-01)

Evaluation of Sensory and Motor Function in Spinal and Bulbar Muscular Atrophy Using Quiet Stance and Reactive Postural Control
by: Joseph A. Shrader, et al.
Published: (2025-05-01)

Socioeconomic efficiency of neonatal screening for spinal muscular atrophy in the Russian Federation
by: I. A. Komarov, et al.
Published: (2023-10-01)

Short-Term Safety and Efficacy of Onasemnogene Abeparvovec in 10 Patients with Spinal Muscular Atrophy: Cohort Study
by: Kristina S. Nevmerzhitskaya, et al.
Published: (2021-12-01)

Health Technologies Assessment for Orphan Diseases. Example of Social and Economic Burden of Spinal Muscular Atrophy
by: Aleksei S. Kolbin, et al.
Published: (2021-12-01)

Quantitative and structural features of the SMN1 and SMN2 genes in patients with spinal muscular atrophy 5q
by: A. I. Vlasenko, et al.
Published: (2024-12-01)

SMArt Retro study: a retrospective data analysis of the Russian registry of patients with spinal muscular atrophy
by: D. V. Vlodavets, et al.
Published: (2024-09-01)

Interim Analysis of Treatment Outcomes of Young Children with 5q Spinal Muscular Atrophy on Gene Replacement Therapy with Onasemnogene Abeparvovec. Clinical Observations
by: Anna A. Kokorina, et al.
Published: (2023-01-01)

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
by: S. A. Kurbatov, et al.
Published: (2019-11-01)

Spinal and bulbar muscular atrophy as a multisystem disease with motor neuron and muscle involvement: literature review and a case report
by: E. O. Ivanova, et al.
Published: (2020-06-01)

Assessment of social emotional, cognitive and communicative development and adaptive behavior in children with spinal muscular atrophy 5q
by: Yu. O. Papina, et al.
Published: (2025-04-01)

Kennedy’s Disease – Current State Of Knowledge
by: Gabriela Helena Dąbrowska, et al.
Published: (2025-06-01)

General principles of vaccination of patients with neuromuscular diseases
by: M. S. Skorikov, et al.
Published: (2023-10-01)

A Brand-New Metal Complex Catalyst-Free Approach to the Synthesis of 2,8-Dimethylimidazo[1,2-<i>b</i>]pyridazine-6-Carboxylic Acid—A Key Intermediate in Risdiplam Manufacturing Process
by: Georgiy Korenev, et al.
Published: (2025-07-01)

Molecular-genetic study of <i>SMN1</i> and <i>SMN2</i> genes associated with spinal muscular atrophy in individuals with infertility prior to in vitro fertilization
by: E. V. Kudryavtseva, et al.
Published: (2024-01-01)

Case report of a child with combined genetic pathology: cystic fibrosis and facioscapulohumeral progressive muscular dystrophy
by: O. A. Klochkova, et al.
Published: (2015-02-01)

Serial casting for contractures in SMA: consensus derived guidelines for treatment
by: Laurey Brown, et al.
Published: (2025-04-01)

Correction: Serial casting for contractures in SMA: consensus derived guidelines for treatment
by: Laurey Brown, et al.
Published: (2025-07-01)

New Perspectives of Underlying Cardiomyopathy in Pediatric SMA Patients—An Age Matched Control Study
by: Georgiana Nicolae, et al.
Published: (2025-07-01)

Phenotypic variability in TRPV4-associated neuropathies and neuronopathies: a case series
by: A. F. Murtazina, et al.
Published: (2023-06-01)