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Cerebellar Agenesis and Bilateral Polimicrogyria Associated with Rare Variants of CUB and Sushi Multiple Domains 1 Gene (CSMD1): A Longitudinal Neuropsychological and Neuroradiological Case Study
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In: International Journal of Environmental Research and Public Health; Volume 19; Issue 3; Pages: 1224 (2022)
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Automated topographic prominence based quantitative assessment of speech timing in Cerebellar Ataxia
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Automated tongue-twister phrase-based screening for Cerebellar Ataxia using Vocal tract Biomarkers∗
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The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management
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In: ISSN: 0340-6717 ; EISSN: 1432-1203 ; Human Genetics ; https://hal.archives-ouvertes.fr/hal-02349575 ; Human Genetics, Springer Verlag, 2018, 137 (2), pp.111--127. ⟨10.1007/s00439-017-1862-z⟩ (2018)
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Quantitative assessment of syllabic timing deficits in ataxic dysarthria
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Treatment for speech disorder in Friedreich ataxia and other hereditary ataxia syndromes (Review)
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Deletion of chromosome 12q21 affecting KCNC2 and ATXN7L3B in a family with neurodevelopmental delay and ataxia.
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In: J Neurol Neurosurg Psychiatry , 84 (11) 1255 - 1257. (2013) (2013)
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Head-Unrestrained Gaze Shifts After Muscimol Injection in the Caudal Fastigial Nucleus of the Monkey
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In: ISSN: 0022-3077 ; EISSN: 1522-1598 ; Journal of Neurophysiology ; https://hal.archives-ouvertes.fr/hal-01427887 ; Journal of Neurophysiology, American Physiological Society, 2007, 98 (6), pp.3269 - 3283. ⟨10.1152/jn.00741.2007⟩ (2007)
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