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1.
An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14.
Am J Hum Genet
; 110(1): 105-119, 2023 01 05.
Article
in English
| MEDLINE | ID: mdl-36493768
2.
Patient-Related Outcome Measures for Oculomotor Symptoms in the Cerebellar Ataxias: Insights from Non-Cerebellar Disorders.
Cerebellum
; 2024 Jan 12.
Article
in English
| MEDLINE | ID: mdl-38214833
3.
Quantitative Oculomotor Assessment in Hereditary Ataxia: Discriminatory Power, Correlation with Severity Measures, and Recommended Parameters for Specific Genotypes.
Cerebellum
; 23(1): 121-135, 2024 Feb.
Article
in English
| MEDLINE | ID: mdl-36640220
4.
A patient with neuropathy and ataxia: what do I have to consider?
Curr Opin Neurol
; 36(5): 382-387, 2023 10 01.
Article
in English
| MEDLINE | ID: mdl-37639448
5.
Quantitative Oculomotor Assessment in Hereditary Ataxia: Systematic Review and Consensus by the Ataxia Global Initiative Working Group on Digital-motor Biomarkers.
Cerebellum
; 2023 Apr 28.
Article
in English
| MEDLINE | ID: mdl-37117990
6.
Interrater Reliability of the Scale for the Assessment and Rating of Ataxia, Berg Balance Scale, and Functional Independence Measure Motor Domain in Individuals With Hereditary Cerebellar Ataxia.
Arch Phys Med Rehabil
; 104(10): 1646-1651, 2023 10.
Article
in English
| MEDLINE | ID: mdl-37268274
7.
Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS.
Am J Hum Genet
; 105(1): 151-165, 2019 07 03.
Article
in English
| MEDLINE | ID: mdl-31230722
8.
Instrumented Objective Clinical Examination of Cerebellar Ataxia: the Upper and Lower Limb-a Review.
Cerebellum
; 21(1): 145-158, 2022 Feb.
Article
in English
| MEDLINE | ID: mdl-33852136
9.
An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14.
Am J Hum Genet
; 110(6): 1018, 2023 Jun 01.
Article
in English
| MEDLINE | ID: mdl-37267898
10.
Developing an Instrumented Measure of Upper Limb Function in Friedreich Ataxia.
Cerebellum
; 20(3): 430-438, 2021 Jun.
Article
in English
| MEDLINE | ID: mdl-33400236
11.
Rapid Diagnosis of Spinocerebellar Ataxia 36 in a Three-Generation Family Using Short-Read Whole-Genome Sequencing Data.
Mov Disord
; 35(9): 1675-1679, 2020 09.
Article
in English
| MEDLINE | ID: mdl-32407596
12.
A comprehensive scheme for the objective upper body assessments of subjects with cerebellar ataxia.
J Neuroeng Rehabil
; 17(1): 162, 2020 12 04.
Article
in English
| MEDLINE | ID: mdl-33276783
13.
Central Conditions Mimicking Benign Paroxysmal Positional Vertigo: A Case Series.
J Neurol Phys Ther
; 43(3): 186-191, 2019 07.
Article
in English
| MEDLINE | ID: mdl-31136448
14.
Quantitative assessment of cerebellar ataxia, through automated limb functional tests.
J Neuroeng Rehabil
; 16(1): 31, 2019 02 27.
Article
in English
| MEDLINE | ID: mdl-30813963
15.
Neurophysiological evidence for generalized sensory neuronopathy in cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome.
Muscle Nerve
; 51(4): 600-3, 2015 Apr.
Article
in English
| MEDLINE | ID: mdl-25130975
16.
Machine Learning Based Diagnosis of Vertigo using Video Head Impulse Test.
Annu Int Conf IEEE Eng Med Biol Soc
; 2023: 1-5, 2023 07.
Article
in English
| MEDLINE | ID: mdl-38082826
17.
The Electrophysiological Findings in Spinocerebellar Ataxia Type 6: Evidence From 24 Patients.
J Clin Neurophysiol
; 40(1): 86-90, 2023 Jan 01.
Article
in English
| MEDLINE | ID: mdl-34038931
18.
Machine Learning-Based Scoring System to Predict the Risk and Severity of Ataxic Speech Using Different Speech Tasks.
IEEE Trans Neural Syst Rehabil Eng
; 31: 4839-4850, 2023.
Article
in English
| MEDLINE | ID: mdl-37983150
19.
A Bayesian Network Approach for Friedreich Ataxia Severity Classification using Probability Modelling.
Annu Int Conf IEEE Eng Med Biol Soc
; 2023: 1-4, 2023 07.
Article
in English
| MEDLINE | ID: mdl-38082810
20.
A Study of Upper-Limb Motion using Kinematic Measures for Clinical Assessment of Cerebellar Ataxia.
Annu Int Conf IEEE Eng Med Biol Soc
; 2023: 1-5, 2023 07.
Article
in English
| MEDLINE | ID: mdl-38082882