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Publications by Ruth Sheffer

De Novo Pathogenic DNM1L Variant in a Patient Diagnosed With Atypical Hereditary Sensory and Autonomic Neuropathy

Molecular genetics & genomic medicine

Molecular Biology

English

Related publications

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

Journal of Neurology, Neurosurgery and Psychiatry

English

Hereditary Sensory and Autonomic Neuropathy in a Male Child: ‘The Other Side of Not Feeling Pain’

BMJ Case Reports

English

Hereditary Sensory Neuropathy Type I

Orphanet Journal of Rare Diseases

English

A Model of Hereditary Sensory and Autonomic Neuropathy Type 1 Reveals a Role of Glycosphingolipids in Neuronal Polarity

Journal of Neuroscience

English

Diaphragmatic Weakness in Hereditary Motor and Sensory Neuropathy.

Journal of Neurology, Neurosurgery and Psychiatry

English

Ultralate Cerebral Potentials in a Patient With Hereditary Motor and Sensory Neuropathy Type I Indicate Preserved C-Fibre Function.

Journal of Neurology, Neurosurgery and Psychiatry

English

Tafamidis for Autonomic Neuropathy in Hereditary Transthyretin (ATTR) Amyloidosis: A Review

Clinical Autonomic Research

Autonomic Systems

English

Macular Thickness Changes in a Patient With Leber’s Hereditary Optic Neuropathy

BMC Ophthalmology

English

De Novo Missense Variant in the GTPase Effector Domain (GED) of DNM1L Leads to Static Encephalopathy and Seizures

Cold Spring Harbor molecular case studies

Molecular Medicine

English