Article in Neurology. Genetics, 2021. 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
0.2field-weighted citation impact, top 50% 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
3 citing papers in PubMed, 4 citations in OpenAlex.
Self-silencingJournal of neurology, neurosurgery, and psychiatry · 2025
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 at 1 institution in 1 country.
Eiichiro AmanoDepartment of Neurology and Neurological Science, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (E.A., T. Yokota); Department of Neurology, Tsuchiura Kyodo General Hospital (E.A., A.M.), Ibaraki; Department of Neurology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine (T. Yoshida, I.M.); Department of Radiology, Tokyo Medical and Dental University (J.O.); Department of Pathology, Tsuchiura Kyodo General Hospital (S.S.), Ibaraki; Division of Pathology, Exploratory Oncology Research and Clinical Trial Center, National Cancer Center (S.S.), Chiba; and Department of Gastroenterology, Tsuchiura Kyodo General Hospital (S.U.), Ibaraki, Japan.ORCID 0000-0003-0363-4853
Tomokatsu YoshidaDepartment of Neurology and Neurological Science, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (E.A., T. Yokota); Department of Neurology, Tsuchiura Kyodo General Hospital (E.A., A.M.), Ibaraki; Department of Neurology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine (T. Yoshida, I.M.); Department of Radiology, Tokyo Medical and Dental University (J.O.); Department of Pathology, Tsuchiura Kyodo General Hospital (S.S.), Ibaraki; Division of Pathology, Exploratory Oncology Research and Clinical Trial Center, National Cancer Center (S.S.), Chiba; and Department of Gastroenterology, Tsuchiura Kyodo General Hospital (S.U.), Ibaraki, Japan.ORCID 0000-0001-5141-6020
Ikuko MizutaDepartment of Neurology and Neurological Science, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (E.A., T. Yokota); Department of Neurology, Tsuchiura Kyodo General Hospital (E.A., A.M.), Ibaraki; Department of Neurology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine (T. Yoshida, I.M.); Department of Radiology, Tokyo Medical and Dental University (J.O.); Department of Pathology, Tsuchiura Kyodo General Hospital (S.S.), Ibaraki; Division of Pathology, Exploratory Oncology Research and Clinical Trial Center, National Cancer Center (S.S.), Chiba; and Department of Gastroenterology, Tsuchiura Kyodo General Hospital (S.U.), Ibaraki, Japan.ORCID 0000-0002-2775-2507
Jun OyamaDepartment of Neurology and Neurological Science, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (E.A., T. Yokota); Department of Neurology, Tsuchiura Kyodo General Hospital (E.A., A.M.), Ibaraki; Department of Neurology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine (T. Yoshida, I.M.); Department of Radiology, Tokyo Medical and Dental University (J.O.); Department of Pathology, Tsuchiura Kyodo General Hospital (S.S.), Ibaraki; Division of Pathology, Exploratory Oncology Research and Clinical Trial Center, National Cancer Center (S.S.), Chiba; and Department of Gastroenterology, Tsuchiura Kyodo General Hospital (S.U.), Ibaraki, Japan.ORCID 0000-0003-4000-2142
Shingo SakashitaDepartment of Neurology and Neurological Science, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (E.A., T. Yokota); Department of Neurology, Tsuchiura Kyodo General Hospital (E.A., A.M.), Ibaraki; Department of Neurology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine (T. Yoshida, I.M.); Department of Radiology, Tokyo Medical and Dental University (J.O.); Department of Pathology, Tsuchiura Kyodo General Hospital (S.S.), Ibaraki; Division of Pathology, Exploratory Oncology Research and Clinical Trial Center, National Cancer Center (S.S.), Chiba; and Department of Gastroenterology, Tsuchiura Kyodo General Hospital (S.U.), Ibaraki, Japan.ORCID 0000-0003-1133-3313
Syunsuke UeyamaDepartment of Neurology and Neurological Science, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (E.A., T. Yokota); Department of Neurology, Tsuchiura Kyodo General Hospital (E.A., A.M.), Ibaraki; Department of Neurology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine (T. Yoshida, I.M.); Department of Radiology, Tokyo Medical and Dental University (J.O.); Department of Pathology, Tsuchiura Kyodo General Hospital (S.S.), Ibaraki; Division of Pathology, Exploratory Oncology Research and Clinical Trial Center, National Cancer Center (S.S.), Chiba; and Department of Gastroenterology, Tsuchiura Kyodo General Hospital (S.U.), Ibaraki, Japan.
Akira MachidaDepartment of Neurology and Neurological Science, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (E.A., T. Yokota); Department of Neurology, Tsuchiura Kyodo General Hospital (E.A., A.M.), Ibaraki; Department of Neurology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine (T. Yoshida, I.M.); Department of Radiology, Tokyo Medical and Dental University (J.O.); Department of Pathology, Tsuchiura Kyodo General Hospital (S.S.), Ibaraki; Division of Pathology, Exploratory Oncology Research and Clinical Trial Center, National Cancer Center (S.S.), Chiba; and Department of Gastroenterology, Tsuchiura Kyodo General Hospital (S.U.), Ibaraki, Japan.ORCID 0000-0001-7457-8866
Takanori YokotaDepartment of Neurology and Neurological Science, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (E.A., T. Yokota); Department of Neurology, Tsuchiura Kyodo General Hospital (E.A., A.M.), Ibaraki; Department of Neurology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine (T. Yoshida, I.M.); Department of Radiology, Tokyo Medical and Dental University (J.O.); Department of Pathology, Tsuchiura Kyodo General Hospital (S.S.), Ibaraki; Division of Pathology, Exploratory Oncology Research and Clinical Trial Center, National Cancer Center (S.S.), Chiba; and Department of Gastroenterology, Tsuchiura Kyodo General Hospital (S.U.), Ibaraki, Japan.ORCID 0000-0002-6490-3263
Tsuchiura Kyodo General Hospital · JP
Funding
No grant is acknowledged in the PubMed record.
6 · The paper itself
Abstract
BACKGROUND AND
objectiveAlexander disease (ALXDRD) is an autosomal dominant neurologic disorder caused by mutations in the glial fibrillary acidic protein (
methodsGenetic testing of
resultsThe patient presented mild upper motor neuron symptoms in contrast to the severe atrophy of spinal cord and medulla oblongata. The patient had c.619-1G>A mutation, which is located in the canonical splice acceptor site of intron 3. The brain RNA analysis identified the r.619_621del (p.Glu207del) mutation, which is explained by the activation of the cryptic splice acceptor site in the second and third nucleotides from the 5' end of the exon 4. DISCUSSION:
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.
Activation of a Cryptic Splice Site of · full record | OpenQuestion