Jin He

Fuzhou, China

Last Updated: 09/26/2026

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Found 30 publications

SMN1 mutation spectrum and functional analysis of novel SMN1 variants in a Chinese spinal muscular atrophy cohort.

SMN1 mutation spectrum and functional analysis of novel SMN1 variants in a Chinese spinal muscular atrophy cohort.

Journal: Journal of human genetics

Published: August 31, 2025

Improved AIS data simplification algorithm for extracting typical routes considering motion continuity.

Improved AIS data simplification algorithm for extracting typical routes considering motion continuity.

Journal: PloS one

Published: July 08, 2025

Bi-allelic loss-of function variants in ATP2A1 cause autosomal recessive Brody disease.

Bi-allelic loss-of function variants in ATP2A1 cause autosomal recessive Brody disease.

Journal: QJM : monthly journal of the Association of Physicians

Published: July 07, 2025

Diagnosis of Challenging Spinal Muscular Atrophy Cases with Long-Read Sequencing.

Diagnosis of Challenging Spinal Muscular Atrophy Cases with Long-Read Sequencing.

Journal: The Journal of molecular diagnostics : JMD

Published: September 21, 2023

Reply to "SARS1 (SerRS) Causing De Novo Dominant Charcot-Marie-Tooth Disease with Slow Conduction".

Reply to "SARS1 (SerRS) Causing De Novo Dominant Charcot-Marie-Tooth Disease with Slow Conduction".

Journal: Annals of neurology

Published: September 06, 2023

Drosophila models used to simulate human ATP1A1 gene mutations that cause Charcot-Marie-Tooth type 2 disease and refractory seizures.

Drosophila models used to simulate human ATP1A1 gene mutations that cause Charcot-Marie-Tooth type 2 disease and refractory seizures.

Journal: Neural regeneration research

Published: April 25, 2023

Clinical and genetic heterogeneity of adult polyglucosan body disease caused by GBE1 biallelic mutations in China.

Clinical and genetic heterogeneity of adult polyglucosan body disease caused by GBE1 biallelic mutations in China.

Journal: Genes & diseases

Published: January 02, 2023

Biallelic variants in the COQ7 gene cause distal hereditary motor neuropathy in two Chinese families.

Biallelic variants in the COQ7 gene cause distal hereditary motor neuropathy in two Chinese families.

Journal: Brain : a journal of neurology

Published: December 11, 2022

Heterozygous Seryl-tRNA Synthetase 1 Variants Cause Charcot-Marie-Tooth Disease.

Heterozygous Seryl-tRNA Synthetase 1 Variants Cause Charcot-Marie-Tooth Disease.

Journal: Annals of neurology

Published: January 27, 2022

GGC Repeat Expansion of RILPL1 is Associated with Oculopharyngodistal Myopathy.

GGC Repeat Expansion of RILPL1 is Associated with Oculopharyngodistal Myopathy.

Journal: Annals of neurology

Published: November 29, 2021

Genetic screening method for analyzing survival motor neuron copy number in spinal muscular atrophy by multiplex ligation-dependent probe amplification and droplet digital polymerase chain reaction.

Genetic screening method for analyzing survival motor neuron copy number in spinal muscular atrophy by multiplex ligation-dependent probe amplification and droplet digital polymerase chain reaction.

Journal: Chinese medical journal

Published: September 22, 2020

Evaluation of SORD mutations as a novel cause of Charcot-Marie-Tooth disease.

Evaluation of SORD mutations as a novel cause of Charcot-Marie-Tooth disease.

Journal: Annals of clinical and translational neurology

Published: September 10, 2020

Showing 1-12 of 30

Last Updated: 09/26/2026