Spinocerebellar Ataxia Type 20 Latest Advances

Exploring the Genetic Variations Underlying SNX14-Linked Autosomal Recessive Spinocerebellar Ataxia Type 20: A Case Series of 17 Patients From a Single Center in the Omani Population and Review of Literature.

Journal: American journal of medical genetics. Part A

Published: October 07, 2025

Exploring the Genetic Variations Underlying SNX14-Linked Autosomal Recessive Spinocerebellar Ataxia Type 20: A Case Series of 17 Patients From a Single Center in the Omani Population and Review of Literature.

Journal: American journal of medical genetics. Part A

Published: October 07, 2025

Compound heterozygous mutation of the SNX14 gene causes autosomal recessive spinocerebellar ataxia 20.

Journal: Frontiers in genetics

Published: February 06, 2024

Homozygous deep intronic variant in SNX14 cause autosomal recessive Spinocerebellar ataxia 20: a case report.

Journal: Frontiers in genetics

Published: April 11, 2023

Autosomal recessive spinocerebellar ataxia-20 due to a novel SNX14 variant in an Indian girl.

Journal: American journal of medical genetics. Part A

Published: September 24, 2021

SNX14 deficiency-induced defective axonal mitochondrial transport in Purkinje cells underlies cerebellar ataxia and can be reversed by valproate.

Journal: National science review

Published: July 12, 2020

Two Compound Heterozygous Variants in SNX14 Cause Stereotypies and Dystonia in Autosomal Recessive Spinocerebellar Ataxia 20.

Journal: Frontiers in genetics

Published: June 16, 2020

Comparative study on citric acid modified instant starches (alcoholic alkaline treated) isolated from white sorghum and corn grains.

Journal: International journal of biological macromolecules

Published: April 11, 2019

SNX14 mutations affect endoplasmic reticulum-associated neutral lipid metabolism in autosomal recessive spinocerebellar ataxia 20.

Journal: Human molecular genetics

Published: January 17, 2018

Congenital Disorders of Autophagy: What a Pediatric Neurologist Should Know.

Journal: Neuropediatrics

Published: November 08, 2017

Roughness, surface energy, and superficial damages of CAD/CAM materials after surface treatment.

Journal: Clinical oral investigations

Published: May 19, 2017

Hypertrophic Olivary Degeneration and Palatal or Oculopalatal Tremor.

Journal: Frontiers in neurology

Published: April 05, 2017

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Exploring the Genetic Variations Underlying SNX14-Linked Autosomal Recessive Spinocerebellar Ataxia Type 20: A Case Series of 17 Patients From a Single Center in the Omani Population and Review of Literature.

Exploring the Genetic Variations Underlying SNX14-Linked Autosomal Recessive Spinocerebellar Ataxia Type 20: A Case Series of 17 Patients From a Single Center in the Omani Population and Review of Literature.

Exploring the Genetic Variations Underlying SNX14-Linked Autosomal Recessive Spinocerebellar Ataxia Type 20: A Case Series of 17 Patients From a Single Center in the Omani Population and Review of Literature.

Exploring the Genetic Variations Underlying SNX14-Linked Autosomal Recessive Spinocerebellar Ataxia Type 20: A Case Series of 17 Patients From a Single Center in the Omani Population and Review of Literature.

Compound heterozygous mutation of the SNX14 gene causes autosomal recessive spinocerebellar ataxia 20.

Compound heterozygous mutation of the SNX14 gene causes autosomal recessive spinocerebellar ataxia 20.

Homozygous deep intronic variant in SNX14 cause autosomal recessive Spinocerebellar ataxia 20: a case report.

Homozygous deep intronic variant in SNX14 cause autosomal recessive Spinocerebellar ataxia 20: a case report.

Autosomal recessive spinocerebellar ataxia-20 due to a novel SNX14 variant in an Indian girl.

Autosomal recessive spinocerebellar ataxia-20 due to a novel SNX14 variant in an Indian girl.

SNX14 deficiency-induced defective axonal mitochondrial transport in Purkinje cells underlies cerebellar ataxia and can be reversed by valproate.

SNX14 deficiency-induced defective axonal mitochondrial transport in Purkinje cells underlies cerebellar ataxia and can be reversed by valproate.

Two Compound Heterozygous Variants in SNX14 Cause Stereotypies and Dystonia in Autosomal Recessive Spinocerebellar Ataxia 20.

Two Compound Heterozygous Variants in SNX14 Cause Stereotypies and Dystonia in Autosomal Recessive Spinocerebellar Ataxia 20.

Comparative study on citric acid modified instant starches (alcoholic alkaline treated) isolated from white sorghum and corn grains.

Comparative study on citric acid modified instant starches (alcoholic alkaline treated) isolated from white sorghum and corn grains.

SNX14 mutations affect endoplasmic reticulum-associated neutral lipid metabolism in autosomal recessive spinocerebellar ataxia 20.

SNX14 mutations affect endoplasmic reticulum-associated neutral lipid metabolism in autosomal recessive spinocerebellar ataxia 20.

Congenital Disorders of Autophagy: What a Pediatric Neurologist Should Know.

Congenital Disorders of Autophagy: What a Pediatric Neurologist Should Know.

Roughness, surface energy, and superficial damages of CAD/CAM materials after surface treatment.

Roughness, surface energy, and superficial damages of CAD/CAM materials after surface treatment.

Hypertrophic Olivary Degeneration and Palatal or Oculopalatal Tremor.

Hypertrophic Olivary Degeneration and Palatal or Oculopalatal Tremor.