HSAN-VI: A spectrum disorder based on dystonin isoform expression.

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.

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.

Who cites it

10 citing papers in PubMed, 16 citations in OpenAlex.

1. Rare autosomal recessive hereditary sensory and autonomic neuropathy type VI in a Pakistani family caused by a novel DST variant.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025
   Article
2. A novel homozygous DST variant causes hereditary sensory and autonomic neuropathy in a Pakistani family.Human genome variation · 2025
   Article
3. In silico reconstructions underpin aberrant trafficking dynamics in deficient axons of Dst knockout and Dst/Nefl double-knockout mice.Communications biology · 2025
   Article
4. Hereditary sensory autonomic neuropathy type VI in the age of genetic testing.Annals of the Child Neurology Society · 2024
   Article
5. Sensory-motor circuit is a therapeutic target forScience advances · 2024
   Article
6. Roles of dystonin isoforms in the maintenance of neural, muscle, and cutaneous tissues.Anatomical science international · 2024
   Review
7. Isoform-specific mutation in Dystonin-b gene causes late-onset protein aggregate myopathy and cardiomyopathy.eLife · 2022
   Article
8. Hypolacrimia and Alacrimia as Diagnostic Features for Genetic or Congenital Conditions.Investigative ophthalmology & visual science · 2022
   Review
9. Expanding the Genotypic Spectrum of Congenital Sensory and Autonomic Neuropathies Using Whole-Exome Sequencing.Neurology. Genetics · 2021
   Article
10. Isoform-specific loss of dystonin causes hereditary motor and sensory neuropathy.Neurology. Genetics · 2020
    Article

Corrections and comments

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

Authors and funding

2 authors at 1 institution in 1 country.

Funding

No grant is acknowledged in the PubMed record.

Abstract