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Literature DB >> 36271925

Hyperactive vestibular and visually enhanced vestibulo-ocular reflexes in autosomal recessive cerebellar ataxia type 3: a case report.

Rachael L Taylor^1,2, Tonci Antunovich¹, Thomas Ming Hong Chang¹, Miriam Rodrigues^1,3, Ashleigh Baker¹, Peter Bergin³, Ben McGuinness⁴, Richard H Roxburgh^5,6.

Abstract

Entities: Chemical

Year: 2022 PMID： 36271925 DOI： 10.1007/s00415-022-11422-2

Source DB: PubMed Journal: J Neurol ISSN： 0340-5354 Impact factor: 6.682

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8 in total

1. ANO10 mutational screening in recessive ataxia: genetic findings and refinement of the clinical phenotype.

Authors: Lorenzo Nanetti; Elisa Sarto; Anna Castaldo; Stefania Magri; Alessia Mongelli; Davide Rossi Sebastiano; Laura Canafoglia; Marina Grisoli; Chiara Malaguti; Francesca Rivieri; Maria Chiara D'Amico; Daniela Di Bella; Silvana Franceschetti; Caterina Mariotti; Franco Taroni
Journal: J Neurol Date: 2018-12-04 Impact factor: 4.849

2. Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia.

Authors: Sascha Vermeer; Alexander Hoischen; Rowdy P P Meijer; Christian Gilissen; Kornelia Neveling; Nienke Wieskamp; Arjan de Brouwer; Michel Koenig; Mathieu Anheim; Mirna Assoum; Nathalie Drouot; Slobodanka Todorovic; Vedrana Milic-Rasic; Hanns Lochmüller; Giovanni Stevanin; Cyril Goizet; Albert David; Alexandra Durr; Alexis Brice; Berry Kremer; Bart P C van de Warrenburg; Mascha M V A P Schijvenaars; Angelien Heister; Michael Kwint; Peer Arts; Jenny van der Wijst; Joris Veltman; Erik-Jan Kamsteeg; Hans Scheffer; Nine Knoers
Journal: Am J Hum Genet Date: 2010-11-18 Impact factor: 11.025

3. Differential effects of anoctamins on intracellular calcium signals.

Authors: Inês Cabrita; Roberta Benedetto; Ana Fonseca; Podchanart Wanitchakool; Lalida Sirianant; Boris V Skryabin; Laura K Schenk; Hermann Pavenstädt; Rainer Schreiber; Karl Kunzelmann
Journal: FASEB J Date: 2017-02-09 Impact factor: 5.191

4. Specific patterns of neuronal connexions involved in the control of the rabbit's vestibulo-ocular reflexes by the cerebellar flocculus.

Authors: M Ito; N Nisimaru; M Yamamoto
Journal: J Physiol Date: 1977-03 Impact factor: 5.182

Hyperactive vestibular and visually enhanced vestibulo-ocular reflexes in autosomal recessive cerebellar ataxia type 3: a case report.

1. ANO10 mutational screening in recessive ataxia: genetic findings and refinement of the clinical phenotype.

2. Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia.

3. Differential effects of anoctamins on intracellular calcium signals.

4. Specific patterns of neuronal connexions involved in the control of the rabbit's vestibulo-ocular reflexes by the cerebellar flocculus.

5. Widening the spectrum of spinocerebellar ataxia autosomal recessive type 10 (SCAR10).

6. The Addenbrooke's Cognitive Examination Revised (ACE-R): a brief cognitive test battery for dementia screening.

7. The Pathology of the Vestibular System in CANVAS.

8. Enhanced Vestibulo-Ocular Reflex Responses on vHIT. Is It a Casual Finding or a Sign of Vestibular Dysfunction?