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Florence Riant

Showing results (41-50 of 68) with videos related to

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Journal of Clinical Sleep Medicine : JCSM : Official Publication of the American Academy of Sleep Medicine|August 7, 2019
Sleep in <i>ADCY5</i>-Related Dyskinesia: Prolonged Awakenings Caused by Abnormal MovementsAurélie Méneret, Emmanuel Roze, Jean-Baptiste Maranci, et al.
Parkinsonism & Related Disorders|February 5, 2025
Atypical ADCY5-related movement disorders: Highlighting adolescent/adult-onset cervical dystoniaFloriane Quazza, Florence Riant, Martina Patera, et al.
Clinical Genetics|May 13, 2023
Characterization of novel CACNA1A splice variants by RNA-sequencing in patients with episodic or congenital ataxiaFlorence Riant, Lydie Burglen, Michaelle Corpechot, et al.
Journal of Medical Genetics|January 12, 2020
Xq28 copy number gain causing moyamoya disease and a novel moyamoya syndromeChaker Aloui, Stéphanie Guey, Eva Pipiras, et al.
Human Genomics|March 21, 2023
Biallelic variants in NOS3 and GUCY1A3, the two major genes of the nitric oxide pathway, cause moyamoya cerebral angiopathyStéphanie Guey, Dominique Hervé, Manoëlle Kossorotoff, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|January 18, 2015
Severe phenotypic spectrum of biallelic mutations in PRRT2 geneMarion Delcourt, Florence Riant, Josette Mancini, et al.
Brain : a Journal of Neurology|March 26, 2026
SCN2A variants are associated with familial and sporadic hemiplegic migraineFlorence Riant, Christopher H Thompson, Syed M A Wafa, et al.
Proceedings of the National Academy of Sciences of the United States of America|August 28, 2010
Defective membrane expression of the Na(+)-HCO(3)(-) cotransporter NBCe1 is associated with familial migraineMasashi Suzuki, Wim Van Paesschen, Ingeborg Stalmans, et al.
Neurology|March 4, 2020
Movement disorders in patients with alternating hemiplegia: "Soft" and "stiff" at the same timeEleni Panagiotakaki, Diane Doummar, Erika Nogue, et al.
Movement Disorders Clinical Practice|June 12, 2025
ADCY5-Mosaic Variants: A Diagnosis Not to Be MissedAlice Innocenti, Emmanuel Roze, Florence Riant, et al.
Pageof 7

Showing results (41-50 of 68) with videos related to

Sort By:
Pageof 7
Journal of Clinical Sleep Medicine : JCSM : Official Publication of the American Academy of Sleep Medicine|August 7, 2019
Sleep in <i>ADCY5</i>-Related Dyskinesia: Prolonged Awakenings Caused by Abnormal MovementsAurélie Méneret, Emmanuel Roze, Jean-Baptiste Maranci, et al.
Parkinsonism & Related Disorders|February 5, 2025
Atypical ADCY5-related movement disorders: Highlighting adolescent/adult-onset cervical dystoniaFloriane Quazza, Florence Riant, Martina Patera, et al.
Clinical Genetics|May 13, 2023
Characterization of novel CACNA1A splice variants by RNA-sequencing in patients with episodic or congenital ataxiaFlorence Riant, Lydie Burglen, Michaelle Corpechot, et al.
Journal of Medical Genetics|January 12, 2020
Xq28 copy number gain causing moyamoya disease and a novel moyamoya syndromeChaker Aloui, Stéphanie Guey, Eva Pipiras, et al.
Human Genomics|March 21, 2023
Biallelic variants in NOS3 and GUCY1A3, the two major genes of the nitric oxide pathway, cause moyamoya cerebral angiopathyStéphanie Guey, Dominique Hervé, Manoëlle Kossorotoff, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|January 18, 2015
Severe phenotypic spectrum of biallelic mutations in PRRT2 geneMarion Delcourt, Florence Riant, Josette Mancini, et al.
Brain : a Journal of Neurology|March 26, 2026
SCN2A variants are associated with familial and sporadic hemiplegic migraineFlorence Riant, Christopher H Thompson, Syed M A Wafa, et al.
Proceedings of the National Academy of Sciences of the United States of America|August 28, 2010
Defective membrane expression of the Na(+)-HCO(3)(-) cotransporter NBCe1 is associated with familial migraineMasashi Suzuki, Wim Van Paesschen, Ingeborg Stalmans, et al.
Neurology|March 4, 2020
Movement disorders in patients with alternating hemiplegia: "Soft" and "stiff" at the same timeEleni Panagiotakaki, Diane Doummar, Erika Nogue, et al.
Movement Disorders Clinical Practice|June 12, 2025
ADCY5-Mosaic Variants: A Diagnosis Not to Be MissedAlice Innocenti, Emmanuel Roze, Florence Riant, et al.
Pageof 7