Multisystemic RFC1-Related Disorder: Expanding the Phenotype Beyond Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome

MJ Malaquias, L Braz, C Santos Silva… - Neurology: Clinical …, 2023 - AAN Enterprises
Background and Objectives The RFC1 spectrum has become considerably expanded as
multisystemic features beyond the triad of cerebellar ataxia, neuropathy, and vestibular …

Multisystemic RFC1-Related Disorder: Expanding the Phenotype Beyond Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome

MJ Malaquias, L Braz, CS Silva… - Neurology. Clinical …, 2023 - pubmed.ncbi.nlm.nih.gov
Background and objectives The RFC1 spectrum has become considerably expanded as
multisystemic features beyond the triad of cerebellar ataxia, neuropathy, and vestibular …

Multisystemic RFC1-Related Disorder: Expanding the Phenotype Beyond Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome

MJ Malaquias, L Braz, C Santos Silva… - Neurology: Clinical …, 2023 - AAN Enterprises
Background and Objectives The RFC1 spectrum has become considerably expanded as
multisystemic features beyond the triad of cerebellar ataxia, neuropathy, and vestibular …

Multisystemic RFC1-Related Disorder: Expanding the Phenotype Beyond Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome.

MJ Malaquias, L Braz, J Damásio, A Jorge… - Neurology. Clinical …, 2023 - europepmc.org
Methods We retrospectively enrolled 67 RFC1-positive patients from multiple neurologic
centers in Portugal. All patients underwent full neurologic and vestibular evaluation, as well …

[PDF][PDF] Multisystemic RFC1-Related Disorder

Neurology: Clinical Practice, 2023 - researchgate.net
Methods We retrospectively enrolled 67 RFC1-positive patients from multiple neurologic
centers in Portugal. All patients underwent full neurologic and vestibular evaluation, as well …