Nan Li

发表

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

Nan Li, Li Fang, Qian Liu, 2018, Journal of Medical Genetics.

Novel mutation of SCN1A in familial generalized epilepsy with febrile seizures plus

K. Xia, B. Tang, Ji-feng Guo, 2010, Neuroscience Letters.

Genetic Identification Is Critical for the Diagnosis of Parkinsonism: A Chinese Pedigree with Early Onset of Parkinsonism

K. Xia, B. Tang, Ji-feng Guo, 2015, PloS one.

Mutation screening of the PRRT2 gene for benign epilepsy with centrotemporal spikes in Chinese mainland population

K. Xia, B. Tang, Hong Jiang, 2017, The International journal of neuroscience.

A novel mutation of KCNQ3 gene in a Chinese family with benign familial neonatal convulsions

K. Xia, Q. Pan, B. Tang, 2003, Epilepsy Research.

Mutation Detection in Candidate Genes for Benign Familial Infantile Seizures on a Novel Locus

K. Xia, Q. Pan, Zhengmao Hu, 2010, The International journal of neuroscience.

The genotypic and phenotypic spectrum of PARS2-related infantile-onset encephalopathy

B. Tang, Hong Jiang, S. Zeng, 2018, Journal of Human Genetics.

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

Zhixian Yang, K. Xia, B. Tang, 2018, Human molecular genetics.

TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing.

Xin Jin, K. Xia, Q. Pan, 2010, Brain : a journal of neurology.

Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias

K. Xia, B. Tang, Zhengmao Hu, 2011, Brain : a journal of neurology.

Identification of CHIP as a Novel Causative Gene for Autosomal Recessive Cerebellar Ataxia

Jun Wang, Jianguo Zhang, K. Xia, 2013, PloS one.

Prediction of orthostatic hypotension in multiple system atrophy and Parkinson disease

K. Xia, B. Tang, Ji-feng Guo, 2016, Scientific Reports.

Mutation analysis of PRRT2 in two Chinese BFIS families and nomenclature of PRRT2 related paroxysmal diseases

K. Xia, B. Tang, Zhengmao Hu, 2013, Neuroscience Letters.

Exon dosage analysis of parkin gene in Chinese sporadic Parkinson’s disease

K. Xia, B. Tang, Ji-feng Guo, 2015, Neuroscience Letters.

The genotypic and phenotypic spectrum of PARS2-related infantile-onset encephalopathy

B. Tang, Hong Jiang, S. Zeng, 2018, Journal of Human Genetics.

TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing.

Xin Jin, K. Xia, Q. Pan, 2010, Brain : a journal of neurology.