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- 2024
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Mark
Exonic trinucleotide repeat expansions in ZFHX3 cause spinocerebellar ataxia type 4 : A poly-glycine disease
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- Contribution to journal › Article
- 2021
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Mark
Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy
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- Contribution to journal › Article
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Mark
Challenges in Clinicogenetic Correlations : One Phenotype – Many Genes
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- Contribution to journal › Scientific review
- 2020
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Mark
De novo variants in CAMTA1 cause a syndrome variably associated with spasticity, ataxia, and intellectual disability
(
- Contribution to journal › Article
- 2019
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Mark
Nomenclature of Genetically Determined Myoclonus Syndromes : Recommendations of the International Parkinson and Movement Disorder Society Task Force
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- Contribution to journal › Scientific review
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Mark
Identification of human D lactate dehydrogenase deficiency
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- Contribution to journal › Article
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Mark
Recommendations for patient screening in ultra-rare inherited metabolic diseases : What have we learned from Niemann-Pick disease type C?
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- Contribution to journal › Scientific review
- 2018
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Mark
Progressive myoclonus ataxia : Time for a new definition?
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- Contribution to journal › Article
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Mark
Expanding the ADCY5 phenotype toward spastic paraparesis : Amutation in the M2 domain
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- Contribution to journal › Article
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Mark
Crossing barriers : a multidisciplinary approach to children and adults with young-onset movement disorders
(
- Contribution to journal › Article