Recherche
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Evidence of mosaicism in SPAST variant carriers in four French families
(European Journal of Human Genetics. vol. 29, n° 7, pp. 1158-1163, 2021-05-06)Article de revue -
Late-onset presentation of neurometabolic diseases: Diagnostic flowchart revisited
(Journal of Neurology, Neurosurgery and Psychiatry. vol. 92, n° 1, 2021)Article de revue -
Severe Thoracic and Spinal Bone Abnormalities in neurofibromatosis type 1
(European Journal of Medical Genetics. vol. 63, n° 4, pp. 103815, 2020)Article de revue -
Pseudoxanthoma elasticum overlaps hereditary spastic paraplegia type 56
(Journal of Internal Medicine. vol. 289, n° 5, pp. 709-725, 2021)Article de revue -
SOD1-related ALS with anticipation in a large family from Martinique
(Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 2021-03-23)Article de revue