GNE myopathy in Chinese population: hotspot and novel mutations

Phenotypic stratification and genotype–phenotype correlation in a heterogeneous, international cohort of GNE myopathy patients: First report from the GNE myopathy Disease Monitoring Program, registry portion

(2018) Oksana Pogoryelova et al.   NEUROMUSCULAR DISORDERS

GNE myopathy in a Chinese male with a novel homozygous mutation

(2017) Ban Rui et al.   JOURNAL OF CLINICAL NEUROSCIENCE

Identification of an Alu element-mediated deletion in the promoter region of GNE in siblings with GNE myopathy

(2017) Jennifer Garland et al.   Molecular Genetics & Genomic Medicine

Missing genetic variations in GNE myopathy: rearrangement hotspots encompassing 5′UTR and founder allele

(2016) Wenhua Zhu et al.   JOURNAL OF HUMAN GENETICS

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Characteristics of de novo structural changes in the human genome

(2015) Wigard P. Kloosterman et al.   GENOME RESEARCH

Mutational spectrum and clinical features in 35 unrelated mainland Chinese patients with GNE myopathy

(2015) Juan Zhao et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Muscle biopsy and UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene mutation analysis in two Chinese patients with distal myopathy with rimmed vacuoles

(2015) Nan Liu et al.   NEUROREPORT

Mutation Update forGNEGene Variants Associated with GNE Myopathy

(2014) Frank V. Celeste et al.   HUMAN MUTATION

GNE myopathy: current update and future therapy

(2014) Ichizo Nishino et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

A family with distal myopathy with rimmed vacuoles associated with thrombocytopenia

(2014) Changqing Zhen et al.   NEUROLOGICAL SCIENCES

Mutation profile of the GNE gene in Japanese patients with distal myopathy with rimmed vacuoles (GNE myopathy)

(2013) A. Cho et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Heterozygous UDP-GlcNAc 2-epimerase and N-acetylmannosamine kinase domain mutations in the GNE gene result in a less severe GNE myopathy phenotype compared to homozygous N-acetylmannosamine kinase domain mutations

(2012) Madoka Mori-Yoshimura et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Clinical and molecular genetic analysis in Chinese patients with distal myopathy with rimmed vacuoles

(2011) Honghao Li et al.   JOURNAL OF HUMAN GENETICS

Integrative genomics viewer

(2011) James T Robinson et al.   NATURE BIOTECHNOLOGY

Distal myopathy with rimmed vacuoles: clinical and muscle morphological characteristics and spectrum of GNE gene mutations in 53 Chinese patients

(2011) Xianghui Lu et al.   NEUROLOGICAL RESEARCH

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS