Associated Papers
Estimating the Prevalence of Autosomal Recessive Neuromuscular Diseases in the Korean Population.
Kim SH et al.
Journal of Korean Medical Science, 2025
40390582 (PubMed )
Supplement: jkms-40-e68-s003.xls › jkms-40-e68-s003
A systematic review of hereditary neurological disorders diagnosed by whole exome sequencing in Pakistani population: updates from 2014 to November 2024.
Ahmad R et al.
Neurogenetics, 2025
Genetic Investigation of Consanguineous Pakistani Families Segregating Rare Spinocerebellar Disorders.
Saadi SM et al.
Genes, 2023
Childhood-onset autosomal recessive ataxias: a cross-sectional study from Turkey.
Mutlu-Albayrak H et al.
Neurogenetics, 2020
Mechanism of APTX nicked DNA sensing and pleiotropic inactivation in neurodegenerative disease.
Tumbale P et al.
The Embo Journal, 2018
Early-Onset Friedreich's Ataxia With Oculomotor Apraxia.
Saghazadeh A et al.
Acta Medica Iranica, 2017
Genotype-phenotype correlations in early onset ataxia with ocular motor apraxia and hypoalbuminaemia.
Yokoseki A et al.
Brain : a Journal of Neurology, 2011
Early-onset ataxia with ocular motor apraxia and hypoalbuminemia/ataxia with oculomotor apraxia 1.
Tada M et al.
Advances in Experimental Medicine and Biology, 2010
A novel mutation of aprataxin associated with ataxia ocular apraxia type 1: phenotypical and genotypical characterization.
Ferrarini M et al.
Journal of the Neurological Sciences, 2007
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