Spinocerebellar ataxias caused by polyglutamine expansions

BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, abnormal muscle tone and movement abnormalities.

Journal of medical genetics·2026

Spatial analysis of paraneoplastic cerebellar degeneration in ovarian cancer with anti-Yo syndrome and SCA1.

Journal of neurology·2026

Biallelic ATG9B Variants Define a Novel Autophagy-Related Neurodevelopmental Disorder with Cerebellar Ataxia.

Genes·2026

Transitional Life Events in Friedreich Ataxia: Differential Age at Onset Perspectives.

Cerebellum (London, England)·2026

Cerebellar cognitive-affective syndrome in Friedreich Ataxia.

Journal of neurology·2026

A Patient-Reported Outcome Measure of Communication Difficulties in Friedreich Ataxia: COMATAX.

Cerebellum (London, England)·2026

Nucleoskeletal Proteins in Early Embryogenesis.

Advances in experimental medicine and biology·2026

Nuclear Dynamics and Its Timing Regulation Revealed by Live-Cell Imaging.

Advances in experimental medicine and biology·2026

Histone Modifications in Mammalian Early Embryos.

Advances in experimental medicine and biology·2026

Oocyte Kinetochores at the Nexus of Meiotic Drive and Segregation Fidelity.

Advances in experimental medicine and biology·2026

Asymmetric Chromosome Establishment and Segregation During Germline Stem Cell Division.

Advances in experimental medicine and biology·2026

Non-random Sister Chromatid Segregation Mediated by Ribosomal DNA in Drosophila Male Germline Stem Cells.

Advances in experimental medicine and biology·2026

Reframing neuropsychiatric disorders: Nuclear calcium signaling as a core signaling axis of mitochondrial proteostasis and synaptic energy homeostasis.

Molecular and cellular neurosciences·2026

National survey of patients with neuromuscular disease and COVID-19 in Japan.

Brain & development·2026

Lethargy With Reversible Bilateral Basal Ganglia and Substantia Nigra Lesions in Anti-N-Methyl-D-Aspartate Receptor Encephalitis: A Case Report.

Cureus·2026

A dual-method assessment of West Nile and Chikungunya viruses in blood donations from Fars province, southwestern Iran.

Parasite epidemiology and control·2026

Identification, validation, and prediction of longitudinal recovery phenotypes in degenerative cervical myelopathy: analysis of prospective cohorts and a randomised controlled trial.

EClinicalMedicine·2026

Utilization of medications for neuropathic pain in patients with and without knee and hip osteoarthritis in Sweden: A population-based cohort study.

Osteoarthritis and cartilage open·2026

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Spinocerebellar ataxias caused by polyglutamine expansions

Related Concept Videos

BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, abnormal muscle tone and movement abnormalities.

Spatial analysis of paraneoplastic cerebellar degeneration in ovarian cancer with anti-Yo syndrome and SCA1.

Biallelic ATG9B Variants Define a Novel Autophagy-Related Neurodevelopmental Disorder with Cerebellar Ataxia.

Transitional Life Events in Friedreich Ataxia: Differential Age at Onset Perspectives.

Cerebellar cognitive-affective syndrome in Friedreich Ataxia.

A Patient-Reported Outcome Measure of Communication Difficulties in Friedreich Ataxia: COMATAX.

Nucleoskeletal Proteins in Early Embryogenesis.

Nuclear Dynamics and Its Timing Regulation Revealed by Live-Cell Imaging.

Histone Modifications in Mammalian Early Embryos.

Oocyte Kinetochores at the Nexus of Meiotic Drive and Segregation Fidelity.

Asymmetric Chromosome Establishment and Segregation During Germline Stem Cell Division.

Non-random Sister Chromatid Segregation Mediated by Ribosomal DNA in Drosophila Male Germline Stem Cells.

Reframing neuropsychiatric disorders: Nuclear calcium signaling as a core signaling axis of mitochondrial proteostasis and synaptic energy homeostasis.

National survey of patients with neuromuscular disease and COVID-19 in Japan.

Lethargy With Reversible Bilateral Basal Ganglia and Substantia Nigra Lesions in Anti-N-Methyl-D-Aspartate Receptor Encephalitis: A Case Report.

A dual-method assessment of West Nile and Chikungunya viruses in blood donations from Fars province, southwestern Iran.

Identification, validation, and prediction of longitudinal recovery phenotypes in degenerative cervical myelopathy: analysis of prospective cohorts and a randomised controlled trial.

Utilization of medications for neuropathic pain in patients with and without knee and hip osteoarthritis in Sweden: A population-based cohort study.

Related Experiment Videos

Spinocerebellar ataxias caused by polyglutamine expansions

Related Concept Videos

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