ReviewOrphanet journal of rare diseases2011
X-linked disorders with cerebellar dysgenesis.
Review in Orphanet journal of rare diseases, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
What it found
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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.
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Who cites it
13 citing papers in PubMed, 31 citations in OpenAlex.
- Rare X-linked variants carry predominantly male risk in autism, Tourette syndrome, and ADHD.Nature communications · 2023Article
- Review
- Crosstalk among Calcium ATPases: PMCA, SERCA and SPCA in Mental Diseases.International journal of molecular sciences · 2021Review
- Opinion and Special Articles: Cerebellar Ataxia and Liver Failure Complicating IPEX Syndrome.Neurology · 2021Article
- An Affordable Method for Evaluation of Ataxic Disorders Based on Electrooculography.Sensors (Basel, Switzerland) · 2019Article
- Sleep Disorders in Hereditary Ataxias.Current neurology and neuroscience reports · 2019Review
- Genetics of Hereditary Ataxia in Scottish Terriers.Journal of veterinary internal medicine · 2017Article
- Current concepts in the treatment of hereditary ataxias.Arquivos de neuro-psiquiatria · 2016Review
- A novel mouse model for ataxia-telangiectasia with a N-terminal mutation displays a behavioral defect and a low incidence of lymphoma but no increased oxidative burden.Human molecular genetics · 2015Article
- A de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasia.Journal of medical genetics · 2013Article
- Inherited cerebellar ataxia in childhood: a pattern-recognition approach using brain MRI.AJNR. American journal of neuroradiology · 2013Review
- Mutation of plasma membrane Ca2+ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca2+ homeostasis.Proceedings of the National Academy of Sciences of the United States of America · 2012Article
- Mean Expression of the X-Chromosome is Associated with Neuronal Density.Frontiers in neuroscience · 2012Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
X-linked disorders with cerebellar dysgenesis (XLCD) are a genetically heterogeneous and clinically variable group of disorders in which the hallmark is a cerebellar defect (hypoplasia, atrophy or dysplasia) visible on brain imaging, caused by gene mutations or genomic imbalances on the X-chromosome. The neurological features of XLCD include hypotonia, developmental delay, intellectual disability, ataxia and/or other cerebellar signs. Normal cognitive development has also been reported. Cerebellar dysgenesis may be isolated or associated with other brain malformations or multiorgan involvement. There are at least 15 genes on the X-chromosome that have been constantly or occasionally associated with a pathological cerebellar phenotype. 8 XLCD loci have been mapped and several families with X-linked inheritance have been reported. Recently, two recurrent duplication syndromes in Xq28 have been associated with cerebellar hypoplasia. Given the report of several forms of XLCD and the excess of males with ataxia, this group of conditions is probably underestimated and families of patients with neuroradiological and clinical evidence of a cerebellar disorder should be counseled for high risk of X-linked inheritance.
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Registered trials
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.