ArticleNeurology. Genetics2024
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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 2 papers.
0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
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
2 citing papers in PubMed.
- Genotypic and phenotypic spectrum of Galloway-Mowat syndrome in Kuwait.Global medical genetics · 2026Article
- Roles of ER Membrane Protein Complex in Protein Biogenesis and Quality Control in the Lung and Beyond.Cell proliferation · 2026Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
14 authors.
Nada T AlzayedFrom the College of Medicine (N.T.A., A.H. Alzuabi, R.A.A.), Health Science Center, Kuwait University; Section of Child Neurology (E.A.E.-A., D.M.), Department of Pediatrics, Adan Hospital, Ministry of Health, Hadiya; Kuwait Medical Genetics Centre (A. Alholle, A.H. Aboelanine, S.O., A.A.E., F.J.A., A. Alahmad, H.A., D.M.), Ministry of Health, Sulaibikhat; Department of Pediatrics (R.A., B.A.), Adan Hospital, Ministry of Health, Hadiya; Department of Pediatrics (H.A., D.M.), College of Medicine, Kuwait University, Safat; and Department of Pediatrics (H.A.), Farwaniya Hospital, Ministry of Health, Sabah Al-Nasser, Kuwait.ORCID https://orcid.org/0009-0008-2338-3725
Abdullah H AlzuabiFrom the College of Medicine (N.T.A., A.H. Alzuabi, R.A.A.), Health Science Center, Kuwait University; Section of Child Neurology (E.A.E.-A., D.M.), Department of Pediatrics, Adan Hospital, Ministry of Health, Hadiya; Kuwait Medical Genetics Centre (A. Alholle, A.H. Aboelanine, S.O., A.A.E., F.J.A., A. Alahmad, H.A., D.M.), Ministry of Health, Sulaibikhat; Department of Pediatrics (R.A., B.A.), Adan Hospital, Ministry of Health, Hadiya; Department of Pediatrics (H.A., D.M.), College of Medicine, Kuwait University, Safat; and Department of Pediatrics (H.A.), Farwaniya Hospital, Ministry of Health, Sabah Al-Nasser, Kuwait.ORCID https://orcid.org/0009-0003-9173-8915
Reem A AlqusaimiFrom the College of Medicine (N.T.A., A.H. Alzuabi, R.A.A.), Health Science Center, Kuwait University; Section of Child Neurology (E.A.E.-A., D.M.), Department of Pediatrics, Adan Hospital, Ministry of Health, Hadiya; Kuwait Medical Genetics Centre (A. Alholle, A.H. Aboelanine, S.O., A.A.E., F.J.A., A. Alahmad, H.A., D.M.), Ministry of Health, Sulaibikhat; Department of Pediatrics (R.A., B.A.), Adan Hospital, Ministry of Health, Hadiya; Department of Pediatrics (H.A., D.M.), College of Medicine, Kuwait University, Safat; and Department of Pediatrics (H.A.), Farwaniya Hospital, Ministry of Health, Sabah Al-Nasser, Kuwait.ORCID https://orcid.org/0009-0001-4729-0493
Ehab A El-AnanyFrom the College of Medicine (N.T.A., A.H. Alzuabi, R.A.A.), Health Science Center, Kuwait University; Section of Child Neurology (E.A.E.-A., D.M.), Department of Pediatrics, Adan Hospital, Ministry of Health, Hadiya; Kuwait Medical Genetics Centre (A. Alholle, A.H. Aboelanine, S.O., A.A.E., F.J.A., A. Alahmad, H.A., D.M.), Ministry of Health, Sulaibikhat; Department of Pediatrics (R.A., B.A.), Adan Hospital, Ministry of Health, Hadiya; Department of Pediatrics (H.A., D.M.), College of Medicine, Kuwait University, Safat; and Department of Pediatrics (H.A.), Farwaniya Hospital, Ministry of Health, Sabah Al-Nasser, Kuwait.ORCID https://orcid.org/0009-0009-4854-4676
Abdullah AlholleFrom the College of Medicine (N.T.A., A.H. Alzuabi, R.A.A.), Health Science Center, Kuwait University; Section of Child Neurology (E.A.E.-A., D.M.), Department of Pediatrics, Adan Hospital, Ministry of Health, Hadiya; Kuwait Medical Genetics Centre (A. Alholle, A.H. Aboelanine, S.O., A.A.E., F.J.A., A. Alahmad, H.A., D.M.), Ministry of Health, Sulaibikhat; Department of Pediatrics (R.A., B.A.), Adan Hospital, Ministry of Health, Hadiya; Department of Pediatrics (H.A., D.M.), College of Medicine, Kuwait University, Safat; and Department of Pediatrics (H.A.), Farwaniya Hospital, Ministry of Health, Sabah Al-Nasser, Kuwait.ORCID https://orcid.org/0009-0005-9013-062X
Ashraf H AboelanineFrom the College of Medicine (N.T.A., A.H. Alzuabi, R.A.A.), Health Science Center, Kuwait University; Section of Child Neurology (E.A.E.-A., D.M.), Department of Pediatrics, Adan Hospital, Ministry of Health, Hadiya; Kuwait Medical Genetics Centre (A. Alholle, A.H. Aboelanine, S.O., A.A.E., F.J.A., A. Alahmad, H.A., D.M.), Ministry of Health, Sulaibikhat; Department of Pediatrics (R.A., B.A.), Adan Hospital, Ministry of Health, Hadiya; Department of Pediatrics (H.A., D.M.), College of Medicine, Kuwait University, Safat; and Department of Pediatrics (H.A.), Farwaniya Hospital, Ministry of Health, Sabah Al-Nasser, Kuwait.ORCID https://orcid.org/0009-0006-2953-5334
Sherief OmarFrom the College of Medicine (N.T.A., A.H. Alzuabi, R.A.A.), Health Science Center, Kuwait University; Section of Child Neurology (E.A.E.-A., D.M.), Department of Pediatrics, Adan Hospital, Ministry of Health, Hadiya; Kuwait Medical Genetics Centre (A. Alholle, A.H. Aboelanine, S.O., A.A.E., F.J.A., A. Alahmad, H.A., D.M.), Ministry of Health, Sulaibikhat; Department of Pediatrics (R.A., B.A.), Adan Hospital, Ministry of Health, Hadiya; Department of Pediatrics (H.A., D.M.), College of Medicine, Kuwait University, Safat; and Department of Pediatrics (H.A.), Farwaniya Hospital, Ministry of Health, Sabah Al-Nasser, Kuwait.
Rasha AlsafiFrom the College of Medicine (N.T.A., A.H. Alzuabi, R.A.A.), Health Science Center, Kuwait University; Section of Child Neurology (E.A.E.-A., D.M.), Department of Pediatrics, Adan Hospital, Ministry of Health, Hadiya; Kuwait Medical Genetics Centre (A. Alholle, A.H. Aboelanine, S.O., A.A.E., F.J.A., A. Alahmad, H.A., D.M.), Ministry of Health, Sulaibikhat; Department of Pediatrics (R.A., B.A.), Adan Hospital, Ministry of Health, Hadiya; Department of Pediatrics (H.A., D.M.), College of Medicine, Kuwait University, Safat; and Department of Pediatrics (H.A.), Farwaniya Hospital, Ministry of Health, Sabah Al-Nasser, Kuwait.
Alaa A ElmonairyFrom the College of Medicine (N.T.A., A.H. Alzuabi, R.A.A.), Health Science Center, Kuwait University; Section of Child Neurology (E.A.E.-A., D.M.), Department of Pediatrics, Adan Hospital, Ministry of Health, Hadiya; Kuwait Medical Genetics Centre (A. Alholle, A.H. Aboelanine, S.O., A.A.E., F.J.A., A. Alahmad, H.A., D.M.), Ministry of Health, Sulaibikhat; Department of Pediatrics (R.A., B.A.), Adan Hospital, Ministry of Health, Hadiya; Department of Pediatrics (H.A., D.M.), College of Medicine, Kuwait University, Safat; and Department of Pediatrics (H.A.), Farwaniya Hospital, Ministry of Health, Sabah Al-Nasser, Kuwait.
Fatemah J AlaliFrom the College of Medicine (N.T.A., A.H. Alzuabi, R.A.A.), Health Science Center, Kuwait University; Section of Child Neurology (E.A.E.-A., D.M.), Department of Pediatrics, Adan Hospital, Ministry of Health, Hadiya; Kuwait Medical Genetics Centre (A. Alholle, A.H. Aboelanine, S.O., A.A.E., F.J.A., A. Alahmad, H.A., D.M.), Ministry of Health, Sulaibikhat; Department of Pediatrics (R.A., B.A.), Adan Hospital, Ministry of Health, Hadiya; Department of Pediatrics (H.A., D.M.), College of Medicine, Kuwait University, Safat; and Department of Pediatrics (H.A.), Farwaniya Hospital, Ministry of Health, Sabah Al-Nasser, Kuwait.
Ahmad AlahmadFrom the College of Medicine (N.T.A., A.H. Alzuabi, R.A.A.), Health Science Center, Kuwait University; Section of Child Neurology (E.A.E.-A., D.M.), Department of Pediatrics, Adan Hospital, Ministry of Health, Hadiya; Kuwait Medical Genetics Centre (A. Alholle, A.H. Aboelanine, S.O., A.A.E., F.J.A., A. Alahmad, H.A., D.M.), Ministry of Health, Sulaibikhat; Department of Pediatrics (R.A., B.A.), Adan Hospital, Ministry of Health, Hadiya; Department of Pediatrics (H.A., D.M.), College of Medicine, Kuwait University, Safat; and Department of Pediatrics (H.A.), Farwaniya Hospital, Ministry of Health, Sabah Al-Nasser, Kuwait.
Hind AlsharhanFrom the College of Medicine (N.T.A., A.H. Alzuabi, R.A.A.), Health Science Center, Kuwait University; Section of Child Neurology (E.A.E.-A., D.M.), Department of Pediatrics, Adan Hospital, Ministry of Health, Hadiya; Kuwait Medical Genetics Centre (A. Alholle, A.H. Aboelanine, S.O., A.A.E., F.J.A., A. Alahmad, H.A., D.M.), Ministry of Health, Sulaibikhat; Department of Pediatrics (R.A., B.A.), Adan Hospital, Ministry of Health, Hadiya; Department of Pediatrics (H.A., D.M.), College of Medicine, Kuwait University, Safat; and Department of Pediatrics (H.A.), Farwaniya Hospital, Ministry of Health, Sabah Al-Nasser, Kuwait.ORCID https://orcid.org/0000-0002-6433-0311
Buthaina AlbashFrom the College of Medicine (N.T.A., A.H. Alzuabi, R.A.A.), Health Science Center, Kuwait University; Section of Child Neurology (E.A.E.-A., D.M.), Department of Pediatrics, Adan Hospital, Ministry of Health, Hadiya; Kuwait Medical Genetics Centre (A. Alholle, A.H. Aboelanine, S.O., A.A.E., F.J.A., A. Alahmad, H.A., D.M.), Ministry of Health, Sulaibikhat; Department of Pediatrics (R.A., B.A.), Adan Hospital, Ministry of Health, Hadiya; Department of Pediatrics (H.A., D.M.), College of Medicine, Kuwait University, Safat; and Department of Pediatrics (H.A.), Farwaniya Hospital, Ministry of Health, Sabah Al-Nasser, Kuwait.
Dana MarafiFrom the College of Medicine (N.T.A., A.H. Alzuabi, R.A.A.), Health Science Center, Kuwait University; Section of Child Neurology (E.A.E.-A., D.M.), Department of Pediatrics, Adan Hospital, Ministry of Health, Hadiya; Kuwait Medical Genetics Centre (A. Alholle, A.H. Aboelanine, S.O., A.A.E., F.J.A., A. Alahmad, H.A., D.M.), Ministry of Health, Sulaibikhat; Department of Pediatrics (R.A., B.A.), Adan Hospital, Ministry of Health, Hadiya; Department of Pediatrics (H.A., D.M.), College of Medicine, Kuwait University, Safat; and Department of Pediatrics (H.A.), Farwaniya Hospital, Ministry of Health, Sabah Al-Nasser, Kuwait.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background and Objectives: The endoplasmic reticulum (ER) membrane protein complex is a conserved multisubunit transmembrane complex that enables energy-independent insertion of newly synthesized membrane proteins into ER membranes, mediating protein folding, phospholipid transfer from ER to mitochondria, and elimination of misfolded proteins. The first subunit of EMC (EMC1) is encoded by Methods: Proband exome sequencing was performed in 3 families, while targeted molecular testing for Results: We identified 8 individuals from 5 Kuwaiti families with the homozygous pathogenic Discussion: The presence of exact biallelic homozygous
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