Evidence map›Paper›PMID 30208948›Full record

ArticleActa neuropathologica communications2018

Core-rod myopathy due to a novel mutation in BTB/POZ domain of KBTBD13 manifesting as late onset LGMD.

Matteo Garibaldi, Fabiana Fattori, Carlo Augusto Bortolotti, Guy Brochier, Clemence Labasse, Margherita Verardo, Emilia Servian-Morilla, Lara Gibellini, Marcello Pinti, Giulia Di Rocco and 6 more

Abstract readCase ReportsLetter
PubMed Full text at PMC Publisher
In one paragraph

Article in Acta neuropathologica communications, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
–field-weighted citation impact
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

8 citing papers in PubMed.

  1. Article
  2. Muscle magnetic resonance imaging involvement patterns in nemaline myopathies.Annals of clinical and translational neurology · 2023
    Article
  3. Article
  4. Article
  5. Ubiquitin ligases: guardians of mammalian development.Nature reviews. Molecular cell biology · 2022
    Review
  6. Review
  7. Update on Congenital Myopathies in Adulthood.International journal of molecular sciences · 2020
    Review
  8. Article
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

16 authors.

Matteo GaribaldiUnit of Neuromuscular Diseases, Department of Neurology, Mental Health and Sensory Organs (NESMOS), SAPIENZA University of Rome, Sant'Andrea Hospital, Rome, Italy. matteo.garibaldi@uniroma1.it.ORCID 0000-0003-1830-2886
Fabiana FattoriUnit of Neuromuscular and Neurodegenerative Diseases, Laboratory of Molecular Medicine, Department of Neurosciences, Bambino Gesù Children's Hospital, Rome, Italy.
Carlo Augusto BortolottiDepartment of Life Science, University of Modena e Reggio Emilia, Modena, Italy.
Guy BrochierNeuromuscular Morphology Unit, Myology Institute, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Paris, France.
Clemence LabasseNeuromuscular Morphology Unit, Myology Institute, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Paris, France.
Margherita VerardoUnit of Neuromuscular and Neurodegenerative Diseases, Laboratory of Molecular Medicine, Department of Neurosciences, Bambino Gesù Children's Hospital, Rome, Italy.
Emilia Servian-MorillaNeuromuscular Unit, Hospital Universitario Virgen del Rocío/Instituto de Biomedicina de Sevilla, Sevilla, Spain.
Lara GibelliniDepartment of Medical and Surgical Sciences for Children and Adults, University of Modena and Reggio Emilia, Modena, Italy.
Marcello PintiDepartment of Life Science, University of Modena e Reggio Emilia, Modena, Italy.
Giulia Di RoccoDepartment of Life Science, University of Modena e Reggio Emilia, Modena, Italy.
Salvatore RaffaLaboratory of Ultrastructural pathology, Department of Clinical and Molecular Medicine, SAPIENZA University of Rome, Sant'Andrea Hospital, Rome, Italy.
Elena Maria PennisiUnit of Neuromuscular Disorders, Neurology, San Filippo Neri Hospital, Rome, Italy.
Enrico Silvio BertiniUnit of Neuromuscular and Neurodegenerative Diseases, Laboratory of Molecular Medicine, Department of Neurosciences, Bambino Gesù Children's Hospital, Rome, Italy.
Carmen ParadasNeuromuscular Unit, Hospital Universitario Virgen del Rocío/Instituto de Biomedicina de Sevilla, Sevilla, Spain.
Norma Beatriz RomeroNeuromuscular Morphology Unit, Myology Institute, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Paris, France.
Giovanni AntoniniUnit of Neuromuscular Diseases, Department of Neurology, Mental Health and Sensory Organs (NESMOS), SAPIENZA University of Rome, Sant'Andrea Hospital, Rome, Italy.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

AgedBTB-POZ DomainCreatine KinaseGreen Fluorescent ProteinsHumansMagnetic Resonance ImagingMaleMicroscopy, ElectronModels, MolecularMuscle ProteinsMuscle, SkeletalMuscular Dystrophies, Limb-GirdleMutationNADTomography Scanners, X-Ray ComputedCreatine KinaseGreen Fluorescent ProteinsKBTBD13 protein, humanMuscle ProteinsNADCentral core myopathyCongenital myopathiesCore-rod myopathyKBTBD13LGMDNemaline myopathy

Identifiers

PMID30208948
PMCPMC6136213

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.