Paul Darveniza
Darlinghurst, NSW, Australia
Last Updated: 09/26/2026
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Found 10 publications
Case Series of Cerebellar Ataxia with Tremor Due to Heterozygous STUB1 Variants (SCA48) without TBP Expansions: Further Evidence for SCA48 as a Monogenic Disease.
Journal: Cerebellum (London, England)
Published: November 01, 2024
Genome sequencing reanalysis increases the diagnostic yield in dystonia.
Journal: Parkinsonism & related disorders
Published: January 14, 2024
A novel synonymous KMT2B variant in a patient with dystonia causes aberrant splicing.
Journal: Molecular genetics & genomic medicine
Published: January 07, 2022
Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities.
Journal: Annals of neurology
Published: May 12, 2020
Whole genome sequencing for the genetic diagnosis of heterogenous dystonia phenotypes.
Journal: Parkinsonism & related disorders
Published: July 07, 2019
Vocal fold paresis - a debilitating and underdiagnosed condition.
Journal: The Journal of laryngology and otology
Published: May 03, 2017
Relationship Between Laryngeal Electromyography and Video Laryngostroboscopy in Vocal Fold Paralysis.
Journal: Journal of voice : official journal of the Voice Foundation
Published: October 22, 2016
Mild parkinsonian features in dystonia: Literature review, mechanisms and clinical perspectives.
Journal: Parkinsonism & related disorders
Published: August 30, 2016
Botulinum toxin A in functional popliteal entrapment syndrome: a new approach to a difficult diagnosis.
Journal: Journal of neural transmission (Vienna, Austria : 1996)
Published: December 19, 2013
The clinical spectrum of laryngeal dystonia includes dystonic cough: observations of a large series.
The clinical spectrum of laryngeal dystonia includes dystonic cough: observations of a large series.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: April 19, 2013
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Last Updated: 09/26/2026