Article in Neurology. Genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.5field-weighted citation impact, top 32% 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
4 citing papers in PubMed, 3 citations in OpenAlex.
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 1 institution in 1 country.
Ilan Ben-ShabatFrom the Departments of Neurology (I.B.-S.) and Internal Medicine (W.S.), Sunderby Hospital, Luleå; Umeå University (I.B.-S.); Department of Clinical Genetics (M.K.), Centre for Inherited Metabolic Diseases (H.B., A.W., R.W., M.E.), Karolinska University Hospital, Stockholm; Departments of Medical Biochemistry and Biophysics (A.W.), Oncology and Pathology (I.N.), Molecular Medicine and Surgery (M.E.), and Neurology (M.P.), Karolinska Institutet, Stockholm, Sweden.ORCID https://orcid.org/0000-0003-2211-7528
Malin KvarnungFrom the Departments of Neurology (I.B.-S.) and Internal Medicine (W.S.), Sunderby Hospital, Luleå; Umeå University (I.B.-S.); Department of Clinical Genetics (M.K.), Centre for Inherited Metabolic Diseases (H.B., A.W., R.W., M.E.), Karolinska University Hospital, Stockholm; Departments of Medical Biochemistry and Biophysics (A.W.), Oncology and Pathology (I.N.), Molecular Medicine and Surgery (M.E.), and Neurology (M.P.), Karolinska Institutet, Stockholm, Sweden.ORCID https://orcid.org/0000-0003-0193-0165
Wolfgang SperkerFrom the Departments of Neurology (I.B.-S.) and Internal Medicine (W.S.), Sunderby Hospital, Luleå; Umeå University (I.B.-S.); Department of Clinical Genetics (M.K.), Centre for Inherited Metabolic Diseases (H.B., A.W., R.W., M.E.), Karolinska University Hospital, Stockholm; Departments of Medical Biochemistry and Biophysics (A.W.), Oncology and Pathology (I.N.), Molecular Medicine and Surgery (M.E.), and Neurology (M.P.), Karolinska Institutet, Stockholm, Sweden.ORCID https://orcid.org/0000-0002-5351-9418
Helene BruhnFrom the Departments of Neurology (I.B.-S.) and Internal Medicine (W.S.), Sunderby Hospital, Luleå; Umeå University (I.B.-S.); Department of Clinical Genetics (M.K.), Centre for Inherited Metabolic Diseases (H.B., A.W., R.W., M.E.), Karolinska University Hospital, Stockholm; Departments of Medical Biochemistry and Biophysics (A.W.), Oncology and Pathology (I.N.), Molecular Medicine and Surgery (M.E.), and Neurology (M.P.), Karolinska Institutet, Stockholm, Sweden.
Anna WredenbergFrom the Departments of Neurology (I.B.-S.) and Internal Medicine (W.S.), Sunderby Hospital, Luleå; Umeå University (I.B.-S.); Department of Clinical Genetics (M.K.), Centre for Inherited Metabolic Diseases (H.B., A.W., R.W., M.E.), Karolinska University Hospital, Stockholm; Departments of Medical Biochemistry and Biophysics (A.W.), Oncology and Pathology (I.N.), Molecular Medicine and Surgery (M.E.), and Neurology (M.P.), Karolinska Institutet, Stockholm, Sweden.ORCID https://orcid.org/0000-0002-2500-6121
Rolf WibomFrom the Departments of Neurology (I.B.-S.) and Internal Medicine (W.S.), Sunderby Hospital, Luleå; Umeå University (I.B.-S.); Department of Clinical Genetics (M.K.), Centre for Inherited Metabolic Diseases (H.B., A.W., R.W., M.E.), Karolinska University Hospital, Stockholm; Departments of Medical Biochemistry and Biophysics (A.W.), Oncology and Pathology (I.N.), Molecular Medicine and Surgery (M.E.), and Neurology (M.P.), Karolinska Institutet, Stockholm, Sweden.ORCID https://orcid.org/0000-0001-6721-4642
Inger NennesmoFrom the Departments of Neurology (I.B.-S.) and Internal Medicine (W.S.), Sunderby Hospital, Luleå; Umeå University (I.B.-S.); Department of Clinical Genetics (M.K.), Centre for Inherited Metabolic Diseases (H.B., A.W., R.W., M.E.), Karolinska University Hospital, Stockholm; Departments of Medical Biochemistry and Biophysics (A.W.), Oncology and Pathology (I.N.), Molecular Medicine and Surgery (M.E.), and Neurology (M.P.), Karolinska Institutet, Stockholm, Sweden.ORCID https://orcid.org/0009-0000-0871-1147
Martin EngvallFrom the Departments of Neurology (I.B.-S.) and Internal Medicine (W.S.), Sunderby Hospital, Luleå; Umeå University (I.B.-S.); Department of Clinical Genetics (M.K.), Centre for Inherited Metabolic Diseases (H.B., A.W., R.W., M.E.), Karolinska University Hospital, Stockholm; Departments of Medical Biochemistry and Biophysics (A.W.), Oncology and Pathology (I.N.), Molecular Medicine and Surgery (M.E.), and Neurology (M.P.), Karolinska Institutet, Stockholm, Sweden.
Martin PaucarFrom the Departments of Neurology (I.B.-S.) and Internal Medicine (W.S.), Sunderby Hospital, Luleå; Umeå University (I.B.-S.); Department of Clinical Genetics (M.K.), Centre for Inherited Metabolic Diseases (H.B., A.W., R.W., M.E.), Karolinska University Hospital, Stockholm; Departments of Medical Biochemistry and Biophysics (A.W.), Oncology and Pathology (I.N.), Molecular Medicine and Surgery (M.E.), and Neurology (M.P.), Karolinska Institutet, Stockholm, Sweden.ORCID https://orcid.org/0000-0003-3735-1480
Karolinska University Hospital · SE
Funding
No grant is acknowledged in the PubMed record.
6 · The paper itself
Abstract
Objectives: Biallelic variants in Methods: Clinical evaluation, neuroimaging studies, a kidney biopsy, and whole genome sequencing (WGS) were applied. Since the phenotype was compatible with a mitochondrial disease, a muscle biopsy with morphological and mitochondrial biochemical investigations was performed. Results: Axial ataxia, cerebellar atrophy, hearing loss, myopathy, ptosis, supranuclear palsy, and kidney failure because of nephronophthisis were the prominent features in this case. WGS revealed the novel biallelic variant c.766C>T (p.Gln256*) in Discussion: This is the first report of a slowly progressive cerebellar ataxia associated with a novel biallelic variant in
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.
Ataxia Syndrome With Hearing Loss and Nephronophthisis Associated With a Novel Homozygous Variant in · full record | OpenQuestion