Agathe Roubertie - Concepedia

Author

Agathe Roubertie

Also Known As

A ROUBERTIE, A Roubertie, A. Roubertie, Agathe Roubertie, Dorothee Ville, Fanny Mochel, Ismail Reisli, Laila Selim, Roubertie Agathe, Roubertie, Agathe

274

Publications

8.1K

Citations

H-Index

105

Concepts

All Affiliations

Inserm Hôpital Gui de Chauliac Assistance Publique – Hôpitaux de Paris Université de Montpellier Centre Hospitalier Universitaire de Montpellier

About

Agathe Roubertie is an author at Inserm specializing in medicine, neurology, and neuropathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	26	34	2.2K
2	Public Health	3	3	498
3	Health Sciences	2	2	100
4	Education	1	1	10
5	Natural Sciences	1	1	64

Agathe Roubertie

103

Publications

6.2K

Citations

H-Index

Page 1

	Year	Citations
Characterization of human disease phenotypes associated with mutations in <i>TREX1</i>, <i>RNASEH2A</i>, <i>RNASEH2B</i>, <i>RNASEH2C</i>, <i>SAMHD1</i>, <i>ADAR</i>, and <i>IFIH1</i> Yanick J. Crow, Diana Chase, Johanna L. Schmidt, American Journal of Medical Genetics Part A	2015	589
Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome Gillian Rice, Teresa Patrick, Rekha Parmar, The American Journal of Human Genetics CardiomyopathyHeart FailureCardiorenal SyndromesCardiovascular DiseaseMolecular Phenotype	2007	442
Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study Gillian Rice, Gabriella Forte, Marcin Szynkiewicz, The Lancet Neurology Genetic DisorderAicardi-goutières SyndromeGeneticsMedicineImmunology	2013	425
Mutations in the neuronal β-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects Karine Poirier, Yoann Saillour, Nadia Bahi‐Buisson, Human Molecular Genetics	2010	261
Genotype-phenotype correlations in <i>SCN8A</i> -related disorders reveal prognostic and therapeutic implications Katrine M. Johannesen, Yuanyuan Liu, Mahmoud Koko, Brain	2021	138
Mutations in SLC13A5 Cause Autosomal-Recessive Epileptic Encephalopathy with Seizure Onset in the First Days of Life Julien Thévenon, Mathieu Milh, François Feillet, The American Journal of Human Genetics First DaysNeurobiology Of DiseaseNeurological DisorderGenetic DisorderGenetics	2014	133
Absence of antibodies to glutamate receptor type 3 (GluR3) in Rasmussen encephalitis Robert Watson, Yanyan Jiang, Isabel Bermúdez, Neurology	2004	127
TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations Jason O'Rawe, Yiyang Wu, Max J. Dörfel, The American Journal of Human Genetics	2015	125
Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females Christel Depienne, Oriane Trouillard, Delphine Bouteiller, Human Mutation	2010	124
[Treatment of early-onset generalized dystonia by chronic bilateral stimulation of the internal globus pallidus. Apropos of a case]. Philippe Coubes, B Echenne, Agathe Roubertie, PubMed	1999	122

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