Publication & Citation Trends
Most Cited Works
Publications
3 total
Digenic inheritance of mutations in SPG7 and AFG3L2 causes motor neuron and cerebellar disorders
Cited by 1
Semantic Scholar
Parkinson's disease and multiple system atrophy are gateways to RFC1-related disorders
Cited by 0
Semantic Scholar
Longitudinal description of health-related quality of life and depressive symptoms in polyQ spinocerebellar ataxia patients OA
Cited by 1
Semantic Scholar
The FGF14-SCA27B GAA•TTC Repeat Shows a Marked Somatic Expansion Bias in the Cerebellum (S4.004)
Cited by 0
Semantic Scholar
Association of Structural Forms of 17q21.31 with the Risk of Progressive Supranuclear Palsy and MAPT Sub-haplotypes OA
Cited by 1
Semantic Scholar
Biallelic variants in ERLIN1: a series of 13 individuals with spastic paraparesis
Cited by 3
Semantic Scholar
Decreasing ganglioside synthesis delays motor and cognitive symptom onset in Spg11 knockout mice OA
Cited by 4
Semantic Scholar
Somatic instability of the FGF14-SCA27B GAA·TTC repeat reveals a marked expansion bias in the cerebellum OA
Cited by 2
Semantic Scholar
CAG repeat mosaicism is gene specific in spinocerebellar ataxias OA
Cited by 13
Semantic Scholar
Data-driven brain atrophy staging in spinocerebellar ataxia type 3 OA
Cited by 0
Semantic Scholar
Research Topics
Parkinson's Disease Mechanisms and Treatments
(1)
Neurological disorders and treatments
(1)
Lysosomal Storage Disorders Research
(1)
Genetic Neurodegenerative Diseases
(1)
Ubiquitin and proteasome pathways
(1)
Frequent Co-Authors
Affiliations
Inserm
Sorbonne Université
Assistance Publique – Hôpitaux de Paris
Pitié-Salpêtrière Hospital