4.5 Article

Biallelic SORD pathogenic variants cause Chinese patients with distal hereditary motor neuropathy

Related references

Note: Only part of the references are listed.
Article Clinical Neurology

Genetic spectrum of MCM3AP and its relationship with phenotype of Charcot-Marie-Tooth disease

Hai-Lin Dong et al.

JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM (2020)

Article Multidisciplinary Sciences

The mutational constraint spectrum quantified from variation in 141,456 humans

Konrad J. Karczewski et al.

NATURE (2020)

Article Clinical Neurology

Genetic heterogeneity of motor neuropathies

Boglarka Bansagi et al.

NEUROLOGY (2017)

Article Medicine, General & Internal

A Novel Missense Mutation in Peripheral Myelin Protein-22 Causes Charcot-Marie-Tooth Disease

Li-Xi Li et al.

CHINESE MEDICAL JOURNAL (2017)

Article Multidisciplinary Sciences

Analysis of protein-coding genetic variation in 60,706 humans

Monkol Lek et al.

NATURE (2016)

Article Multidisciplinary Sciences

A global reference for human genetic variation

David M. Altshuler et al.

NATURE (2015)

Article Genetics & Heredity

A general framework for estimating the relative pathogenicity of human genetic variants

Martin Kircher et al.

NATURE GENETICS (2014)

Letter Biochemical Research Methods

MutationTaster2: mutation prediction for the deep-sequencing age

Jana Marie Schwarz et al.

NATURE METHODS (2014)

Article Biochemistry & Molecular Biology

In silico prediction of splice-altering single nucleotide variants in the human genome

Xueqiu Jian et al.

NUCLEIC ACIDS RESEARCH (2014)

Review Biotechnology & Applied Microbiology

Molecular Mechanisms of Diabetic Retinopathy, General Preventive Strategies, and Novel Therapeutic Targets

Sher Zaman Safi et al.

BIOMED RESEARCH INTERNATIONAL (2014)

Review Clinical Neurology

Clinical implications of genetic advances in Charcot-Marie-Tooth disease

Alexander M. Rossor et al.

NATURE REVIEWS NEUROLOGY (2013)

Review Clinical Neurology

The distal hereditary motor neuropathies

Alexander M. Rossor et al.

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2012)

Article Clinical Neurology

Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing

Sinead M. Murphy et al.

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2012)

Article Biochemistry & Molecular Biology

A hydrogen-bonding network in mammalian sorbitol dehydrogenase stabilizes the tetrameric state and is essential for the catalytic power

M. Hellgren et al.

CELLULAR AND MOLECULAR LIFE SCIENCES (2007)

Article Biochemistry & Molecular Biology

SIFT: predicting amino acid changes that affect protein function

PC Ng et al.

NUCLEIC ACIDS RESEARCH (2003)