Evidence map›Paper›PMID 26017350›Full record

ArticleNeurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology2015

Genetic findings of Cypriot spinal muscular atrophy patients.

L Theodorou, P Nicolaou, P Koutsou, A Georghiou, V Anastasiadou, G Tanteles, T Kyriakides, E Zamba-Papanicolaou, K Christodoulou

Abstract read
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In one paragraph

Article in Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.7field-weighted citation impact, top 29% of its field
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

4 citing papers in PubMed, 10 citations in OpenAlex.

  1. Article
  2. Article
  3. Advances in clinical neurology through the journal "Neurological Sciences" (2015-2016).Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2017
    Article
  4. Review
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

9 authors at 2 institutions in 1 country.

L TheodorouNeurogenetics Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
P NicolaouNeurogenetics Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
P KoutsouNeurogenetics Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
A GeorghiouNeurogenetics Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
V AnastasiadouCyprus School of Molecular Medicine, Nicosia, Cyprus.
G TantelesCyprus School of Molecular Medicine, Nicosia, Cyprus.
T KyriakidesCyprus School of Molecular Medicine, Nicosia, Cyprus.
E Zamba-PapanicolaouCyprus School of Molecular Medicine, Nicosia, Cyprus.
K ChristodoulouNeurogenetics Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus. roula@cing.ac.cy.
Cyprus Institute of Neurology and Genetics · CYArchbishop Makarios III Hospital · CY

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Spinal muscular atrophy (SMA) is an autosomal recessive, neurodegenerative disorder characterised commonly by proximal muscle weakness and wasting in the absence of sensory signs. Deletion or disruption of the SMN1 gene causes the disease. The SMN1 gene is located within an inverted duplication on chromosome 5q13 with the genes SMN2, NAIP and GTF2H2. MLPA analysis of 13 Cypriot SMA patients revealed that, 12 patients carried a homozygous SMN1 gene deletion and one patient carried two copies of the SMN1 gene. Two of 13 cases were a consequence of a paternally originating de novo mutation. Five genotypes were identified within the population, with the most frequent being a homozygous SMN1 and NAIP genes deletion. In conclusion, genotype-phenotype correlation revealed that SMN2 is inversely related to disease severity and that NAIP and GTF2H2 act as negative modifiers. This study provided, for the first time, a comprehensive overview of gene copy numbers and inheritance patterns within Cypriot SMA families.

Indexed as

CyprusDNA Mutational AnalysisFamilyFemaleGene DosageGenetic Association StudiesHumansInheritance PatternsMaleMicrosatellite RepeatsMutationPedigreeSpinal Muscular Atrophies of ChildhoodSurvival of Motor Neuron 1 ProteinSMN1 protein, humanSurvival of Motor Neuron 1 ProteinDe novo mutationGenotype–phenotype analysisGTF2H2NAIPSMASMN1

Identifiers

PMID26017350
OpenAlexW1896802824

What OpenQuestion holds

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Registered trials

None linked

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.