Results 171 to 180 of about 3,165 (187)

Repeat Expansions of RFC1 in Refractory Chronic Cough

Chest, 2023
Laurent Guilleminault, Pauline Chazelas, Boris Melloni, Corinne Magdelaine, Thomas Villeneuve, Danielle Brouquières, Anne-Sophie Lia, Laurent Magy   +7 more
openaire   +1 more source

Brain Structural Signature of RFC1-Related Disorder

Movement Disorders, 2021
Alberto Rolim Muro Martinez, Thiago Rezende, Fernando Cendes   +2 more
exaly  

Association of Biallelic RFC1 Expansion With Early-Onset Parkinson's Disease

European Journal of Neurology, 2023
Fumiaki Tanaka, Jussi Sipilä, Laura Kytövuori   +2 more
exaly  

A Novel RFC1 Repeat Motif (ACAGG) in Two Asia-Pacific CANVAS Families

Brain, 2020
Nigel G Laing, Joshua S Clayton, Wai Yan Yau   +2 more
exaly  

RFC1 Repeat Expansions and Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome: Experience and Perspectives From a Neuromuscular Disorders Unit

Journal of the Neurological Sciences, 2023
Maria Salvadó, José Luis Seoane, Elena Laínez   +2 more
exaly  

Prevalence of Intronic Repeat Expansions in RFC1 in Dutch Patients With CANVAS and Adult-Onset Ataxia

Journal of Neurology, 2022
Dineke S Verbeek, Fatemeh Ghorbani, Berry Kremer   +2 more
exaly  

RFC1-Related Disorder: In Vivo Evaluation of Spinal Cord Damage

Movement Disorders, 2022
Thiago Rezende, Fernando Cendes, José Luiz Pedroso   +2 more
exaly  

New Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome Cases Are Caused by the Presence of a Nonsense Variant in Compound Heterozygosity With the Pathogenic Repeat Expansion in the RFC1 Gene

Clinical Genetics, 2023
Juan Francisco Quesada-Espinosa, Ana Arteche-López, Ruben Perez de la Fuente   +2 more
exaly  

RFC1-related disorder presenting recurrent syncope

Journal of Neurology
Yoko Tsuboyama, Akiko Takahashi, Sawako Furukawa, Asem Almansour, Masashi Hamada, Akatsuki Kubota, Jun Shimizu, Makoto Kinoshita, Chisato Fujimoto, Jun Mitsui, Takashi Matsukawa, Hiroya Naruse, Hiroyuki Ishiura, Shoji Tsuji, Tatsushi Toda   +14 more
openaire   +2 more sources

Correction to: Vestibular function testing in patients with RFC1 mutations

Journal of Neurology, 2022
Gábor M. Halmágyi, David J. Szmulewicz
openaire   +1 more source