Evidence map›Paper›PMID 40869213›Full record

ArticleInternational journal of molecular sciences2025

Genotype Structure Alterations in 5q SMA Patients as a Result of the Newborn Screening Program Implementation in the Russian Federation.

Maria A Akhkiamova, Andrey V Marakhonov, Victoria V Zabnenkova, Kristina A Mikhalchuk, Sergei V Voronin, Sergey I Kutsev, Victoria V Musatova, Tatyana N Kekeeva, Nina V Ryadninskaya, Alena L Chukhrova and 15 more

Abstract read
In one paragraph

Article in International journal of molecular sciences, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

25 authors.

Maria A AkhkiamovaResearch Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia.ORCID 0000-0002-7244-9654
Andrey V MarakhonovResearch Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia.ORCID 0000-0002-0972-5118
Victoria V ZabnenkovaResearch Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia.ORCID 0000-0002-0649-5062
Kristina A MikhalchukResearch Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia.ORCID 0000-0002-0394-7801
Sergei V VoroninResearch Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia.ORCID 0000-0002-9918-9565
Sergey I KutsevResearch Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia.ORCID 0000-0002-3133-8018
Victoria V MusatovaResearch Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia.
Tatyana N KekeevaResearch Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia.ORCID 0000-0002-4986-5748
Nina V RyadninskayaResearch Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia.ORCID 0000-0003-2913-9594
Alena L ChukhrovaResearch Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia.ORCID 0000-0002-5474-4713
Svetlana I BraslavskayaResearch Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia.
Polina A ChausovaResearch Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia.ORCID 0000-0002-0431-1477
Tatyana S BeskorovainayaResearch Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia.ORCID 0000-0001-5656-2561
Aleksander V PolyakovResearch Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia.ORCID 0000-0002-0105-1833
Kirill V SavostyanovFSAI "National Medical Research Centre for Children's Health", Lomonosovskiy Prospekt, 2 b.1, 119991 Moscow, Russia.ORCID 0000-0003-4885-4171
Ilya S ZhaninFSAI "National Medical Research Centre for Children's Health", Lomonosovskiy Prospekt, 2 b.1, 119991 Moscow, Russia.ORCID 0000-0003-1423-0379
Fanil S BilalovSBHI Republican Medical Genetic Centre, Gafuri St., 74, 450076 Ufa, Russia.ORCID 0000-0002-6644-1736
Alexander L KoroteevSPB SBHI "Diagnostic Centre (Medical Genetic)", Tobolskaya St., 5A, 194044 Saint-Petersburg, Russia.ORCID 0000-0002-1568-3217
Dmitry Y TrofimovFSBI "NMRC OGP Named After Academician V.I. Kulakov", Akademika Oparina St., 4, 117997 Moscow, Russia.ORCID 0000-0002-1569-8486
Tatyana A BairovaFSPSI "Scientific Centre for Family Health and Human Reproduction Problems", Timiryazeva St., 16, 664003 Irkutsk, Russia.ORCID 0000-0003-3704-830X
Gulnara N SeitovaFSBSI «Tomsk National Research Medical Centre of the Russian Academy of Sciences», Naberezhnaya Reki Ushaiki St., 10, 634050 Tomsk, Russia.ORCID 0000-0002-8421-1416
Sergei V MordanovFSBEI HE Rostov State Medical University, Nakhichevanskiy per., 29, 344022 Rostov-na-Donu, Russia.ORCID 0000-0001-7924-4945
Svetlana A MatulevichSBHI "Krai Clinical Hospital No. 1 Named After Professor S.V. Ochapovsky", May 1 St., 167, 350086 Krasnodar, Russia.
Elena B NikolaevaSBHI Clinical Diagnostic Centre «Mother and Child Healthcare», Flotskaya St., 52, 620067 Ekaterinburg, Russia.
Olga A ShchaginaResearch Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia.ORCID 0000-0003-4905-1303

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Since 2023, the Russian Federation (RF) has implemented an expanded newborn screening (NBS) program for 36 hereditary disorders, which now includes 5q spinal muscular atrophy (5q SMA). As a result of newborn screening for 5q SMA conducted in the RF during 2023-2024, 288 newborns with a homozygous deletion of exon 7 in the

Indexed as

Muscular Atrophy, SpinalNeonatal ScreeningSurvival of Motor Neuron 1 ProteinSurvival of Motor Neuron 2 ProteinExonsFemaleGenotypeHumansInfant, NewbornMaleRussiaSMN1 protein, humanSMN2 protein, humanSurvival of Motor Neuron 1 ProteinSurvival of Motor Neuron 2 Protein5q SMAgenotypenewborn screeningnumber of SMN2 exon 7 copiesselective screeningSMN1 exon 7 deletionspinal muscular atrophy 5q

Identifiers

PMID40869213
PMCPMC12386884

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.