Results 181 to 187 of about 3,165 (187)

Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome Due to RFC1 Repeat Expansion.

Brain, 2020
Nigel G Laing, Zane Jaunmuktane, Grazia Devigili   +2 more
exaly  

RFC1 CANVAS: genotype phenotype correlations

RFC1 CANVAS: genotype phenotype correlations
Curro Riccardo, Natalia Dominik, Stojkovic Tanya, Miller James, Gosal David, Hadivassiliou Marios, Giunti Paola, Henry Houlden, Reilly Mary M, Cortese Andrea   +9 more
openaire   +1 more source

Author's Replay to RFC1

2017
openaire   +1 more source

No Biallelic Intronic AAGGG Repeat Expansion in RFC1 Was Found in Patients With Late-Onset Ataxia and MSA

Parkinsonism and Related Disorders, 2020
Han Liu, Yuming Xu, Yu Fan
exaly  

A Māori Specific RFC1 Pathogenic Repeat Configuration in CANVAS, Likely Due to a Founder Allele.

Brain, 2020
Nigel G Laing, Wai Yan Yau, Luciana Pelosi   +2 more
exaly  

RFC1 And FGF14 Repeat Expansions in Serbian Patients With Cerebellar Ataxia

Movement Disorders Clinical Practice
Norbert Brüggemann, Ana Westenberger, Katja Lohmann   +2 more
exaly  

DETERMINING PATHOGENIC RFC1 EXPANSIONS FROM SEQUENCING DATA

2022
CHEN SAI, EBERLE MICHAEL
openaire   +1 more source