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Publications by Marina L. Kennerson

Missense Mutations in the Copper Transporter Gene ATP7A Cause X-Linked Distal Hereditary Motor Neuropathy

American Journal of Human Genetics

English

MORC2mutations Cause Axonal Charcot-Marie-Tooth Disease With Pyramidal Signs

Annals of Neurology

English

Related publications

Mutations inHSPB8causing a New Phenotype of Distal Myopathy and Motor Neuropathy

English

Small Heat Shock Protein 27 Mutation in a Japanese Patient With Distal Hereditary Motor Neuropathy

Journal of Human Genetics

English

Prune Belly Syndrome in Surviving Males Can Be Caused by Hemizygous Missense Mutations in the X-Linked Filamin a Gene

BMC Medical Genetics

English

A Novel Mutation of GARS in a Chinese Family With Distal Hereditary Motor Neuropathy Type V

Frontiers in Neurology

English

An Hereditary Sensory and Autonomic Neuropathy Transmitted as an X-Linked Recessive Trait.

Journal of Neurology, Neurosurgery and Psychiatry

English

Diaphragmatic Weakness in Hereditary Motor and Sensory Neuropathy.

Journal of Neurology, Neurosurgery and Psychiatry

English

Null Mutations in the SNF3 Gene of Saccharomyces Cerevisiae Cause a Different Phenotype Than Do Previously Isolated Missense Mutations.

Molecular and Cellular Biology

Molecular Biology

English

Pathogenic Variants in the X‐linked BCOR Gene Cause Two Different Syndromes

Acta Ophthalmologica

English

Distal Hereditary Motor Neuropathy With Vocal Cord Paresis: From Difficulty in Choral Singing to a Molecular Genetic Diagnosis

Practical Neurology

English