Florence Riant

Inserm — France

Neuroscience · Life Sciences

41h-index4.5kcitations112works5.82yr avg
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Research Topics

Genetic Neurodegenerative Diseases(30), Vascular Malformations Diagnosis and Treatment(22), Intracranial Aneurysms: Treatment and Complications(18), Neurological disorders and treatments(18), Intracerebral and Subarachnoid Hemorrhage Research(17)

Publications111 total

<scp> <i>ADCY5</i> </scp> ‐Mosaic Variants: A Diagnosis Not to Be Missed
Movement Disorders Clinical Practice·2025· 1 citedOpen Access
Atypical ADCY5-related movement disorders: Highlighting adolescent/adult-onset cervical dystonia
Parkinsonism & Related Disorders·2025· 4 cited
Clinical and molecular landscape of paediatric cerebral and spinal cavernous malformations
Brain Communications·2025Open Access
Loss of heterozygosity in CCM2 cDNA revealing a structural variant causing multiple cerebral cavernous malformations
European Journal of Human Genetics·2024· 4 citedOpen Access
Loss of heterozygosity in CCM2 cDNA revealing a structural variant causing multiple cerebral cavernous malformations
Research Square (Research Square)·2024Open Access
Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions
EBioMedicine·2023· 52 citedOpen Access
Atassie episodiche
EMC - Neurologia·2023
Pathogenic SCN2A variants are associated with familial and sporadic hemiplegic migraine
Research Square (Research Square)·2023· 4 citedOpen Access
Emicrania emiplegica familiare
EMC - Neurologia·2023
Autosomal recessive systemic microangiopathy associated with<i>FANCL</i>Fanconi anaemia
Journal of Neurology Neurosurgery & Psychiatry·2023· 9 cited
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias
The American Journal of Human Genetics·2023· 28 citedOpen Access
Characterization of novel <scp><i>CACNA1A</i></scp> splice variants by <scp>RNA</scp>‐sequencing in patients with episodic or congenital ataxia
Clinical Genetics·2023· 2 citedOpen Access
Biallelic variants in NOS3 and GUCY1A3, the two major genes of the nitric oxide pathway, cause moyamoya cerebral angiopathy
Human Genomics·2023· 10 citedOpen Access
TMEM151A as an alternative to PRRT2 in paroxysmal kinesigenic dyskinesia: About three new cases
Parkinsonism & Related Disorders·2023· 5 cited
SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing
Human Mutation·2022· 84 citedOpen Access
The dural angioleiomyoma harbors frequent GJA4 mutation and a distinct DNA methylation profile
Acta Neuropathologica Communications·2022· 12 citedOpen Access
Efficacy of Caffeine in <scp>ADCY5</scp>‐Related Dyskinesia: A Retrospective Study
Movement Disorders·2022· 46 cited
SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effect on mRNA splicing.
2022· 8 citedOpen Access
Cerebellum Dysfunction in Patients With <i>PRRT2</i> -Related Paroxysmal Dyskinesia
Neurology·2022· 18 citedOpen Access
Hemiplegic Migraine Associated With <i>PRRT2</i> Variations
Neurology·2021· 48 cited
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Frequent Co-authors

Elisabeth Tournier‐Lasserve(31), Emmanuel Roze(9), Aurélie Méneret(8), Agathe Roubertie(8), Anne Joutel(7), Christel Depienne(7), Pierre Labauge(6), Jacqueline Maciazek(5), Michaelle Cécillon(5), Katayoun Vahedi(5), Alexis Brice(5), Marie Vidailhet(5), Véronique Humbertclaude(5), Diane Doummar(5), Christian Denier(4), Françoise Bergametti(4), Hugues Chabriat(4), Anne Ducros(4), Mathieu Anheim(4), Didier Hannequin(4)