Evidence map›Paper›PMID 31402623›Full record

ArticleAnnals of clinical and translational neurology2019

P5CS expression study in a new family with ALDH18A1-associated hereditary spastic paraplegia SPG9.

Pamela Magini, Clara Marco-Marin, Juan M Escamilla-Honrubia, Diego Martinelli, Carlo Dionisi-Vici, Francesca Faravelli, Francesca Forzano, Marco Seri, Vicente Rubio, Emanuele Panza

Open access · goldAbstract read
In one paragraph

Article in Annals of clinical and translational neurology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed
1.1field-weighted citation impact, top 27% 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

9 citing papers in PubMed, 18 citations in OpenAlex.

  1. Article
  2. Arginase 1 deficiency: a treatable form of spastic paraplegia.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025
    Review
  3. Article
  4. Annals of the Child Neurology Society · 2024
    Article
  5. Article
  6. Article
  7. The Multifaceted Roles of Proline in Cell Behavior.Frontiers in cell and developmental biology · 2021
    Review
  8. Article
  9. 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

10 authors at 5 institutions in 3 countries.

Pamela MaginiMedical Genetics Unit, S. Orsola-Malpighi Hospital, Bologna, Italy.
Clara Marco-MarinInstituto de Biomedicina de Valencia of the CSIC, Valencia, Spain.ORCID 0000-0002-8813-3515
Juan M Escamilla-HonrubiaInstituto de Biomedicina de Valencia of the CSIC, Valencia, Spain.
Diego MartinelliDivision of Metabolism, Bambino Gesù Children's Research Hospital, Rome, Italy.
Carlo Dionisi-ViciDivision of Metabolism, Bambino Gesù Children's Research Hospital, Rome, Italy.
Francesca FaravelliClinical Genetics, NE Thames Regional Genetics Service, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, United Kingdom.
Francesca ForzanoClinical Genetics Department, SE Thames Regional Genetics Service, Guy's & St Thomas' NHS Foundation Trust, London, United Kingdom.
Marco SeriMedical Genetics Unit, S. Orsola-Malpighi Hospital, Bologna, Italy.
Vicente RubioInstituto de Biomedicina de Valencia of the CSIC, Valencia, Spain.ORCID 0000-0001-8124-1196
Emanuele PanzaMedical Genetics Unit, S. Orsola-Malpighi Hospital, Bologna, Italy.ORCID 0000-0002-2338-1139
Instituto de Salud Carlos III · ESIRCCS Azienda Ospedliero-Universitaria di Bologna Policlinico di Sant'Orsola · ITBambino Gesù Children's Hospital · ITGreat Ormond Street Hospital for Children NHS Foundation Trust · GBGuy's and St Thomas' NHS Foundation Trust · GB

Funding

Fondazione del Monte di Bologna e Ravenna FDM/6360Fundación Inocente InocenteSpanish Government MINECO BFU2017-84264-P
6 · The paper itself

Abstract

In 2015-2016, we and others reported ALDH18A1 mutations causing dominant (SPG9A) or recessive (SPG9B) spastic paraplegia. In vitro production of the ALDH18A1 product, Δ

Indexed as

AdultAldehyde DehydrogenaseAnimalsBone and BonesCataractGrowth DisordersHumansMaleMutationPedigreeSf9 CellsSpastic Paraplegia, HereditaryAldehyde DehydrogenaseALDH18A1 protein, human

Identifiers

PMID31402623
PMCPMC6689680
OpenAlexW2963172347

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

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.