Evidence map›Paper›PMID 31413903›Full record

ArticleTremor and other hyperkinetic movements (New York, N.Y.)2019

KIF1C Variants Are Associated with Hypomyelination, Ataxia, Tremor, and Dystonia in Fraternal Twins.

Enrica Marchionni, Aurélie Méneret, Boris Keren, Judith Melki, Christian Denier, Alexandra Durr, Emmanuelle Apartis, Odile Boespflug-Tanguy, Fanny Mochel

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PubMed Full text at PMC Publisher
In one paragraph

Article in Tremor and other hyperkinetic movements (New York, N.Y.), 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
0.9field-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

7 citing papers in PubMed, 11 citations in OpenAlex.

  1. Review
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  4. Non-transport functions of motor proteins in corticogenesis.Frontiers in cell and developmental biology · 2026
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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 3 institutions in 1 country.

Enrica MarchionniDepartment of Genetics, AP-HP, La Pitié-Salpêtrière University Hospital, Paris, FR.
Aurélie MéneretDepartment of Neurology, AP-HP, La Pitié-Salpêtrière University Hospital, Paris, FR.
Boris KerenDepartment of Genetics, AP-HP, La Pitié-Salpêtrière University Hospital, Paris, FR.
Judith MelkiInstitut National de la Santé et de la Recherche Médicale Unité Mixte de Recherche-788 and University of Paris 11, Bicêtre Hospital, Paris, FR.
Christian DenierDepartment of Neurology, Bicêtre Hospital, AP-HP, Le Kremlin Bicêtre, FR; University of Paris 11, INSERM U788, Bicêtre Hospital, Paris, FR.
Alexandra DurrDepartment of Genetics, AP-HP, La Pitié-Salpêtrière University Hospital, Paris, FR.
Emmanuelle ApartisDepartment of Neurophysiology, AP-HP, Saint-Antoine Hospital, Paris, FR.
Odile Boespflug-TanguyDepartment of Neuropediatry and Reference centre for leukodystrophies and rare leukoencephalopathies, Robert-Debré Hospital, AP-HP, Paris, FR.
Fanny MochelDepartment of Genetics, AP-HP, La Pitié-Salpêtrière University Hospital, Paris, FR.
Assistance Publique – Hôpitaux de Paris · FRPitié-Salpêtrière Hospital · FRSorbonne Université · FR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Case report: We report fraternal twins presenting with cerebellar ataxia and dystonic tremor. Their brain MRI showed a hypomyelinating leukoencephalopathy. Whole exome sequencing identified a homozygous Discussion:

Indexed as

AdolescentCerebellar AtaxiaDystoniaDystonic DisordersFemaleHumansKinesinsMaleMutationSpastic Paraplegia, HereditaryTremorTwins, DizygoticKIF1C protein, humanKinesinscerebellar ataxiadystonic tremorhypomyelinating leukoencephalopathyKIF1C

Identifiers

PMID31413903
PMCPMC6692767
OpenAlexW2988702467

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.