Publication & Citation Trends
Publications
0 total
Sacsin-related ataxia (ARSACS): Expanding the genotype upstream from the gigantic exon
Cited by 58
Semantic Scholar
16q-linked autosomal dominant cerebellar ataxia: a clinical and genetic study.
Cited by 44
Semantic Scholar
Early onset insulin‐dependent diabetes mellitus as an initial manifestation of aceruloplasminaemia
Cited by 15
Semantic Scholar
A phenotype without spasticity in sacsin-related ataxia
Cited by 59
Semantic Scholar
Identification of a SACS gene missense mutation in ARSACS
Cited by 83
Semantic Scholar
Early-onset ataxia with ocular motor apraxia and hypoalbuminemia: The aprataxin gene mutations
Cited by 89
Semantic Scholar
A Japanese SPG4 family with a novel missense mutation of the SPG4 gene: intrafamilial variability in age at onset and clinical severity OA
Cited by 11
Semantic Scholar
Meiotic instability of the CAG repeats in the SCA6/CACNA1A gene in two Japanese SCA6 families.
Cited by 15
Semantic Scholar
Research Topics
Particle physics theoretical and experimental studies
(1053)
High-Energy Particle Collisions Research
(850)
Quantum Chromodynamics and Particle Interactions
(600)
Particle Detector Development and Performance
(315)
Dark Matter and Cosmic Phenomena
(138)
Affiliations
Université Paris-Sud
Chonnam National University
Hiroshima University
University of Nebraska–Lincoln
University of Bern