Xuebi Xu

Nanbaixiang Street
Wenzhou, 325000, China

Last Updated: 09/26/2026

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Found 12 publications

Mitochondrial neurogastrointestinal encephalomyopathy in china: a novel TYMP variant and comprehensive clinical-genetic insights.

Mitochondrial neurogastrointestinal encephalomyopathy in china: a novel TYMP variant and comprehensive clinical-genetic insights.

Journal: Orphanet journal of rare diseases
Published: March 27, 2025

Mitochondrial myopathy without extraocular muscle involvement: a unique clinicopathologic profile.

Mitochondrial myopathy without extraocular muscle involvement: a unique clinicopathologic profile.

Journal: Journal of neurology
Published: July 19, 2023

A different pattern of clinical, muscle pathology and brain MRI findings in MELAS with mt-ND variants.

A different pattern of clinical, muscle pathology and brain MRI findings in MELAS with mt-ND variants.

Journal: Annals of clinical and translational neurology
Published: November 29, 2022

Bezafibrate Rescues Mitochondrial Encephalopathy in Mice via Induction of Daily Torpor and Hypometabolic State.

Bezafibrate Rescues Mitochondrial Encephalopathy in Mice via Induction of Daily Torpor and Hypometabolic State.

Journal: Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics
Published: March 08, 2022

Leber's hereditary optic neuropathy plus dystonia caused by the mitochondrial ND1 gene m.4160 T > C mutation.

Leber's hereditary optic neuropathy plus dystonia caused by the mitochondrial ND1 gene m.4160 T > C mutation.

Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Published: January 15, 2022

Leber hereditary optic neuropathy and dystonia overlapping mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes due to m.14459G>A mutation.

Leber hereditary optic neuropathy and dystonia overlapping mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes due to m.14459G>A mutation.

Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Published: August 17, 2020

A novel nonsense variant in MT-CO3 causes MELAS syndrome.

A novel nonsense variant in MT-CO3 causes MELAS syndrome.

Journal: Neuromuscular disorders : NMD
Published: July 29, 2020

MELAS-associated m.5541C>T mutation caused instability of mitochondrial tRNATrp and remarkable mitochondrial dysfunction.

MELAS-associated m.5541C>T mutation caused instability of mitochondrial tRNATrp and remarkable mitochondrial dysfunction.

Journal: Journal of medical genetics
Published: July 06, 2020

A mitochondrial myopathy-associated tRNASer(UCN) 7453G>A mutation alters tRNA metabolism and mitochondrial function.

A mitochondrial myopathy-associated tRNASer(UCN) 7453G>A mutation alters tRNA metabolism and mitochondrial function.

Journal: Mitochondrion
Published: July 03, 2020

Mitochondrial encephalopathy Due to a Novel Pathogenic Mitochondrial tRNAGln m.4349C>T Variant.

Mitochondrial encephalopathy Due to a Novel Pathogenic Mitochondrial tRNAGln m.4349C>T Variant.

Journal: Annals of clinical and translational neurology
Published: May 01, 2020

A novel m.11406 T > A mutation in mitochondrial ND4 gene causes MELAS syndrome.

A novel m.11406 T > A mutation in mitochondrial ND4 gene causes MELAS syndrome.

Journal: Mitochondrion
Published: January 09, 2020

ETFDH Mutations and Flavin Adenine Dinucleotide Homeostasis Disturbance Are Essential for Developing Riboflavin-Responsive Multiple Acyl-Coenzyme A Dehydrogenation Deficiency.

ETFDH Mutations and Flavin Adenine Dinucleotide Homeostasis Disturbance Are Essential for Developing Riboflavin-Responsive Multiple Acyl-Coenzyme A Dehydrogenation Deficiency.

Journal: Annals of neurology
Published: September 09, 2017
Showing 1-12 of 12

Last Updated: 09/26/2026