Zheng-mao Hu

Changsha, 410008, China

Last Updated: 09/26/2026

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Found 15 publications

Identification of the Largest SCA36 Pedigree in Asia: with Multimodel Neuroimaging Evaluation for the First Time.

Identification of the Largest SCA36 Pedigree in Asia: with Multimodel Neuroimaging Evaluation for the First Time.

Journal: Cerebellum (London, England)

Published: July 01, 2021

Loss of the collagen IV modifier prolyl 3-hydroxylase 2 causes thin basement membrane nephropathy.

Loss of the collagen IV modifier prolyl 3-hydroxylase 2 causes thin basement membrane nephropathy.

Journal: The Journal of clinical investigation

Published: December 29, 2020

Clinical and genetic features of transthyretin-related familial amyloid polyneuropathy in China.

Clinical and genetic features of transthyretin-related familial amyloid polyneuropathy in China.

Journal: Chinese medical journal

Published: September 14, 2020

Expansion of GGC repeat in the human-specific NOTCH2NLC gene is associated with essential tremor.

Expansion of GGC repeat in the human-specific NOTCH2NLC gene is associated with essential tremor.

Journal: Brain : a journal of neurology

Published: June 09, 2019

Expansion of Human-Specific GGC Repeat in Neuronal Intranuclear Inclusion Disease-Related Disorders.

Expansion of Human-Specific GGC Repeat in Neuronal Intranuclear Inclusion Disease-Related Disorders.

Journal: American journal of human genetics

Published: April 23, 2019

Coding mutations in NUS1 contribute to Parkinson's disease.

Coding mutations in NUS1 contribute to Parkinson's disease.

Journal: Proceedings of the National Academy of Sciences of the United States of America

Published: October 24, 2018

Long-read sequencing identified intronic repeat expansions in SAMD12 from Chinese pedigrees affected with familial cortical myoclonic tremor with epilepsy.

Long-read sequencing identified intronic repeat expansions in SAMD12 from Chinese pedigrees affected with familial cortical myoclonic tremor with epilepsy.

Journal: Journal of medical genetics

Published: May 14, 2018

Familial paroxysmal kinesigenic dyskinesia is associated with mutations in the KCNA1 gene.

Familial paroxysmal kinesigenic dyskinesia is associated with mutations in the KCNA1 gene.

Journal: Human molecular genetics

Published: January 20, 2018

Screening for SH3TC2, PMP2, and BSCL2 Variants in a Cohort of Chinese Patients with Charcot-Marie-Tooth.

Screening for SH3TC2, PMP2, and BSCL2 Variants in a Cohort of Chinese Patients with Charcot-Marie-Tooth.

Journal: Chinese medical journal

Published: January 17, 2018

Familial paroxysmal kinesigenic dyskinesia is associated with mutations in the KCNA1 gene.

Familial paroxysmal kinesigenic dyskinesia is associated with mutations in the KCNA1 gene.

Journal: Human molecular genetics

Published: October 12, 2017

miR-222 attenuates cisplatin-induced cell death by targeting the PPP2R2A/Akt/mTOR Axis in bladder cancer cells.

miR-222 attenuates cisplatin-induced cell death by targeting the PPP2R2A/Akt/mTOR Axis in bladder cancer cells.

Journal: Journal of cellular and molecular medicine

Published: June 15, 2015

Genetic diagnosis of two dopa-responsive dystonia families by exome sequencing.

Genetic diagnosis of two dopa-responsive dystonia families by exome sequencing.

Journal: PloS one

Published: December 16, 2013

Showing 1-12 of 15

Last Updated: 09/26/2026