Reply: A homozygous GDAP2 loss-of-function variant in a patient with adult-onset cerebellar ataxia; and Novel GDAP2 pathogenic variants cause autosomal recessive spinocerebellar ataxia-27 (SCAR27) in a Chinese family.

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

1 citing paper in PubMed, 2 citations in OpenAlex.

1. Isolated Dystonia as an Initial Presentation of GDAP2-Related Disorder.Movement disorders clinical practice · 2023
   Article

Corrections and comments

• Comment on
  GDAP2 mutations implicate susceptibility to cellular stress in a new form of cerebellar ataxia.2018
• Comment on
  A homozygous GDAP2 loss-of-function variant in a patient with adult-onset cerebellar ataxia.2020
• Comment on
  Novel GDAP2 pathogenic variants cause autosomal recessive spinocerebellar ataxia-27 (SCAR27) in a Chinese family.2020
• Erratum issued
  Erratum to: Reply: Novel GDAP2 pathogenic variants cause autosomal recessive spinocerebellar ataxia-27 (SCAR27) in a Chinese family.2020

Authors and funding

5 authors at 3 institutions in 2 countries.

Funding

Abstract

PubMed holds no abstract for this paper.

Indexed as