Evidence map›Paper›PMID 39040917›Full record

ArticleNeurology. Genetics2024

Multiplex Consanguineous Family Highlights

Rawan Alsafh, Amal Alhashem, Aly Elsyed, Zafer Yüksel, Kalthoum Graiess-Tlili, Khalid Hundallah, Farah Thabet, Brahim Tabarki

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Neurology. Genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. Transcriptomic Convergence and the Female Protective Effect in Autism.bioRxiv : the preprint server for biology · 2025
    Article
  2. Article
  3. 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

8 authors.

Rawan AlsafhFrom the Division of Pediatric Neurology (R.A., K.H., B.T.); Division of Genetics (A.A.), Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Kingdom of Saudi Arabia; Department of Pediatrics (A.E.), King Fahad Military Medical Complex, Dhahran, Saudi Arabia; Bioscientia Human Genetics (Z.Y.), Bioscientia Institut für Medizinische Diagnostik GmbH, Ingelheim, Germany; Department of Radiology (K.G.-T.), Sahloul University Hospital, Sousse; and Department of Pediatrics (F.T.), Fattouma Bourguiba University Hospital, Monastir, Tunisia.
Amal AlhashemFrom the Division of Pediatric Neurology (R.A., K.H., B.T.); Division of Genetics (A.A.), Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Kingdom of Saudi Arabia; Department of Pediatrics (A.E.), King Fahad Military Medical Complex, Dhahran, Saudi Arabia; Bioscientia Human Genetics (Z.Y.), Bioscientia Institut für Medizinische Diagnostik GmbH, Ingelheim, Germany; Department of Radiology (K.G.-T.), Sahloul University Hospital, Sousse; and Department of Pediatrics (F.T.), Fattouma Bourguiba University Hospital, Monastir, Tunisia.ORCID https://orcid.org/0000-0002-9668-7809
Aly ElsyedFrom the Division of Pediatric Neurology (R.A., K.H., B.T.); Division of Genetics (A.A.), Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Kingdom of Saudi Arabia; Department of Pediatrics (A.E.), King Fahad Military Medical Complex, Dhahran, Saudi Arabia; Bioscientia Human Genetics (Z.Y.), Bioscientia Institut für Medizinische Diagnostik GmbH, Ingelheim, Germany; Department of Radiology (K.G.-T.), Sahloul University Hospital, Sousse; and Department of Pediatrics (F.T.), Fattouma Bourguiba University Hospital, Monastir, Tunisia.ORCID https://orcid.org/0000-0002-4556-8201
Zafer YükselFrom the Division of Pediatric Neurology (R.A., K.H., B.T.); Division of Genetics (A.A.), Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Kingdom of Saudi Arabia; Department of Pediatrics (A.E.), King Fahad Military Medical Complex, Dhahran, Saudi Arabia; Bioscientia Human Genetics (Z.Y.), Bioscientia Institut für Medizinische Diagnostik GmbH, Ingelheim, Germany; Department of Radiology (K.G.-T.), Sahloul University Hospital, Sousse; and Department of Pediatrics (F.T.), Fattouma Bourguiba University Hospital, Monastir, Tunisia.
Kalthoum Graiess-TliliFrom the Division of Pediatric Neurology (R.A., K.H., B.T.); Division of Genetics (A.A.), Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Kingdom of Saudi Arabia; Department of Pediatrics (A.E.), King Fahad Military Medical Complex, Dhahran, Saudi Arabia; Bioscientia Human Genetics (Z.Y.), Bioscientia Institut für Medizinische Diagnostik GmbH, Ingelheim, Germany; Department of Radiology (K.G.-T.), Sahloul University Hospital, Sousse; and Department of Pediatrics (F.T.), Fattouma Bourguiba University Hospital, Monastir, Tunisia.
Khalid HundallahFrom the Division of Pediatric Neurology (R.A., K.H., B.T.); Division of Genetics (A.A.), Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Kingdom of Saudi Arabia; Department of Pediatrics (A.E.), King Fahad Military Medical Complex, Dhahran, Saudi Arabia; Bioscientia Human Genetics (Z.Y.), Bioscientia Institut für Medizinische Diagnostik GmbH, Ingelheim, Germany; Department of Radiology (K.G.-T.), Sahloul University Hospital, Sousse; and Department of Pediatrics (F.T.), Fattouma Bourguiba University Hospital, Monastir, Tunisia.
Farah ThabetFrom the Division of Pediatric Neurology (R.A., K.H., B.T.); Division of Genetics (A.A.), Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Kingdom of Saudi Arabia; Department of Pediatrics (A.E.), King Fahad Military Medical Complex, Dhahran, Saudi Arabia; Bioscientia Human Genetics (Z.Y.), Bioscientia Institut für Medizinische Diagnostik GmbH, Ingelheim, Germany; Department of Radiology (K.G.-T.), Sahloul University Hospital, Sousse; and Department of Pediatrics (F.T.), Fattouma Bourguiba University Hospital, Monastir, Tunisia.ORCID https://orcid.org/0000-0003-4824-5691
Brahim TabarkiFrom the Division of Pediatric Neurology (R.A., K.H., B.T.); Division of Genetics (A.A.), Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Kingdom of Saudi Arabia; Department of Pediatrics (A.E.), King Fahad Military Medical Complex, Dhahran, Saudi Arabia; Bioscientia Human Genetics (Z.Y.), Bioscientia Institut für Medizinische Diagnostik GmbH, Ingelheim, Germany; Department of Radiology (K.G.-T.), Sahloul University Hospital, Sousse; and Department of Pediatrics (F.T.), Fattouma Bourguiba University Hospital, Monastir, Tunisia.ORCID https://orcid.org/0000-0001-6240-0489

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background and Objectives: Noncentrosomal microtubules are essential cytoskeletal filaments that are important for neurite formation, axonal transport, and neuronal migration. They require stabilization by microtubule minus-end-targeting proteins including the CLASP family of molecules. To date, no human monogenic disorder has been associated with the Methods: We analyzed clinical characteristics, MRI data, and genotypes of a cohort of 3 patients with homozygous variants in CLASP1. Results: Homozygous Discussion: This study underscores the role of CLASP1 in brain development and suggests that the identified variant disrupts CLASP1 interaction with the microtubule cytoskeleton, contributing to lissencephaly pathogenesis.

Identifiers

PMID39040917
PMCPMC11261580

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Registered trials

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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.