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Article

Cramp-fasciculation syndrome phenotype of cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) due to RFC1 repeat expansion.

Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology - 1 Feb 2022

Kermorvant Hugo, Debs Rabab, Maisonobe Thierry, Huin Vincent, Stojkovic Tanya, Lenglet Timothée

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PMID: 34968871
DOI: 10.1016/j.clinph.2021.11.005

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Related research

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Click a neighbor to travelStep 1 · 12 closest

Cramp-fasciculation syndrome phenotype of cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) due to RFC1 repeat expansion.PMID 34968871Read ↗

[RFC1 CANVAS/Spectrum Disorder: Historical Details and Clinical Diversity].Semantic proximity Read ↗

CANVAS and otoneurological evaluation: seeing the whole pictureSemantic proximity Read ↗

Motor neuron involvement expands the neuropathological phenotype of late-onset ataxia in RFC1 mutation (CANVAS).Semantic proximity Read ↗

Spasmodic cough preceding CANVAS phenotype in a family with biallelic repeat expansions in RFC1.Semantic proximity Read ↗

AAGGG repeat expansions trigger RFC1-independent synaptic dysregulation in human CANVAS neurons.Semantic proximity Read ↗

Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1 Disease.Semantic proximity Read ↗

Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS): A family with five affected sibs from TurkeySemantic proximity Read ↗

Frequency and phenotype of GAA-FGF14 disease in bilateral vestibulopathy syndromes: insights from repeat expansion carriers, including a case of co-occurrence with RFC1-related CANVAS.Semantic proximity Read ↗

AAGGG repeat expansions trigger RFC1-independent synaptic dysregulation in human CANVAS NeuronsSemantic proximity Read ↗

ARSACS: Clinical Features, Pathophysiology and iPS-Derived Models.Semantic proximity Read ↗

Extending the phenotype of posterior column ataxia with retinitis pigmentosa caused by variants in FLVCR1.Semantic proximity Read ↗

A Cough, Then a Decade of Silence: Living Toward a Diagnosis of CANVAS and RFC1-Related DiseaseSemantic proximity Read ↗

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