New clinical characteristics and novel pathogenic variants of patients with hereditary leukodystrophies

Targeted next-generation sequencing improves diagnosis of hereditary spastic paraplegia in Chinese patients

(2018) Cong Lu et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

Adulthood leukodystrophies

(2018) Wolfgang Köhler et al.   Nature Reviews Neurology

Mutation screening in Chinese patients with familial Alzheimer's disease by whole-exome sequencing

(2018) Bin Jiang et al.   NEUROBIOLOGY OF AGING

Identification and functional characterization of two missense mutations in NDRG1 associated with Charcot-Marie-Tooth disease type 4D

(2017) Li-Xi Li et al.   HUMAN MUTATION

Novel mechanisms of eIF2B action and regulation by eIF2α phosphorylation

(2017) Andrew M. Bogorad et al.   NUCLEIC ACIDS RESEARCH

Whole exome sequencing in patients with white matter abnormalities

(2016) Adeline Vanderver et al.   ANNALS OF NEUROLOGY

Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS): update on molecular genetics

(2016) Carmen Stabile et al.   NEUROLOGICAL SCIENCES

Analysis of Mutations in AARS2 in a Series of CSF1R-Negative Patients With Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia

(2016) David S. Lynch et al.   JAMA Neurology

ABCD1 mutations and phenotype distribution in Chinese patients with X-linked adrenoleukodystrophy

(2013) Yan-Fang Niu et al.   GENE

A practical approach to diagnosing adult onset leukodystrophies

(2013) R. M. Ahmed et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY