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[HTML][HTML] Loss of oxidation resistance 1, OXR1, is associated with an autosomal-recessive neurological disease with cerebellar atrophy and lysosomal dysfunction

J Wang, J Rousseau, E Kim, S Ehresmann… - The American Journal of …, 2019 - cell.com
We report an early-onset autosomal-recessive neurological disease with cerebellar atrophy
and lysosomal dysfunction. We identified bi-allelic loss-of-function (LoF) variants in …
被引用次数：49 相关文章

Loss of Oxidation Resistance 1, OXR1, Is Associated with an Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction

J Wang, J Rousseau, E Kim… - American Journal of …, 2019 - ohsu.elsevierpure.com
We report an early-onset autosomal-recessive neurological disease with cerebellar atrophy
and lysosomal dysfunction. We identified bi-allelic loss-of-function (LoF) variants in …

Loss of Oxidation Resistance 1, OXR1, Is Associated with an Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction

J Wang, J Rousseau, E Kim… - … journal of human …, 2019 - pubmed.ncbi.nlm.nih.gov
We report an early-onset autosomal-recessive neurological disease with cerebellar atrophy
and lysosomal dysfunction. We identified bi-allelic loss-of-function (LoF) variants in …

Loss of Oxidation Resistance 1, OXR1, Is Associated with an Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction.

J Wang, J Rousseau, E Kim, S Ehresmann… - American Journal of …, 2019 - europepmc.org
We report an early-onset autosomal-recessive neurological disease with cerebellar atrophy
and lysosomal dysfunction. We identified bi-allelic loss-of-function (LoF) variants in …
[HTML] sciencedirect.com

[HTML][HTML] Loss of Oxidation Resistance 1, OXR1, Is Associated with an Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction

J Wang, J Rousseau, E Kim, S Ehresmann… - The American Journal of …, 2019 - Elsevier
We report an early-onset autosomal-recessive neurological disease with cerebellar atrophy
and lysosomal dysfunction. We identified bi-allelic loss-of-function (LoF) variants in …

Loss of Oxidation Resistance 1, OXR1, Is Associated with an Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction

J Wang, J Rousseau, E Kim… - … Journal of Human …, 2019 - hal.sorbonne-universite.fr
We report an early-onset autosomal-recessive neurological disease with cerebellar atrophy
and lysosomal dysfunction. We identified bi-allelic loss-of-function (LoF) variants in …
[HTML] nih.gov

[HTML][HTML] Loss of Oxidation Resistance 1, OXR1, Is Associated with an Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction

J Wang, J Rousseau, E Kim, S Ehresmann… - American Journal of …, 2019 - ncbi.nlm.nih.gov
We report an early-onset autosomal-recessive neurological disease with cerebellar atrophy
and lysosomal dysfunction. We identified bi-allelic loss-of-function (LoF) variants in …

Loss of Oxidation Resistance 1, OXR1, Is Associated with an Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction.

J Wang, J Rousseau, E Kim, S Ehresmann… - American Journal of …, 2019 - europepmc.org
We report an early-onset autosomal-recessive neurological disease with cerebellar atrophy
and lysosomal dysfunction. We identified bi-allelic loss-of-function (LoF) variants in …

[引用][C] Loss of Oxidation Resistance 1, OXR1, Is Associated with an Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction.

J Wang, J Rousseau, E Kim, S Ehresmann, YT Cheng…