1. Benign paroxysmal torticollis, benign paroxysmal vertigo, and benign tonic upward gaze are not benign disorders. (21st June 2018) Authors: Humbertclaude, Véronique; Krams, Benjamin; Nogue, Erika; Nagot, Nicolas; Annequin, Daniel; Tourniaire, Barbara; Tournier‐Lasserve, Elisabeth; Riant, Florence; Roubertie, Agathe Other Names: Echenne Bernard investigator.; Nguyen Marie‐Ange investigator.; Doummar Diane investigator.; Milh Mathieu investigator.; Napuri Silvia investigator.; Lion‐François Laurence investigator.; Tardieu Marc investigator.; Cheuret Emmanuel investigator.; Spitz Marie‐Aude investigator.; de Saint Martin A... Journal: Developmental medicine & child neurology Issue: Volume 60:Number 12(2018) Page Start: 1256 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Caffeine improved paroxysmal dyskinesia caused by the PRRT2 mutation. Issue 5 (27th March 2013) Authors: Lambrecq, Virginie; Riant, Florence; Tournier‐Lasserve, Elisabeth; Michel, Véronique; Burbaud, Pierre Journal: Movement disorders Issue: Volume 28:Issue 5(2013) Page Start: 683 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Cognitive impairment in children with CACNA1A mutations. (21st May 2019) Authors: Humbertclaude, Veronique; Riant, Florence; Krams, Benjamin; Zimmermann, Valerie; Nagot, Nicolas; Annequin, Daniel; Echenne, Bernard; Tournier‐Lasserve, Elisabeth; Roubertie, Agathe Other Names: Bonnemains Chrystelle investigator.; Chabrier Stéphane investigator.; Cheuret Emmanuel investigator.; Doummar Diane investigator.; Dubois Fanny investigator.; Kossorotoff Manoelle investigator.; Leboucq Nicolas investigator.; Leydet Julie investigator.; Lion‐François Laurence investigator.; Meyer... Journal: Developmental medicine & child neurology Issue: Volume 62:Number 3(2020) Page Start: 330 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. COL4A1/COL4A2 and inherited platelet disorder gene variants in fetuses showing intracranial hemorrhage. (20th February 2022) Authors: Coste, Thibault; Vincent‐Delorme, Catherine; Stichelbout, Morgane; Devisme, Louise; Gelot, Antoinette; Deryabin, Igor; Pelluard, Fanny; Aloui, Chaker; Leutenegger, Anne‐Louise; Jouannic, Jean‐Marie; Héron, Delphine; Gould, Douglas B; Tournier‐Lasserve, Elisabeth Journal: Prenatal diagnosis Issue: Volume 42:Number 5(2022) Page Start: 601 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Disruption of a miR‐29 binding site leading to COL4A1 upregulation causes pontine autosomal dominant microangiopathy with leukoencephalopathy. Issue 5 (19th October 2016) Authors: Verdura, Edgard; Hervé, Dominique; Bergametti, Françoise; Jacquet, Clémence; Morvan, Typhaine; Prieto‐Morin, Carol; Mackowiak, Alexandre; Manchon, Eric; Hosseini, Hassan; Cordonnier, Charlotte; Girard‐Buttaz, Isabelle; Rosenstingl, Sophie; Hagel, Christian; Kuhlenbaümer, Gregor; Leca‐Radu, Elena;... Journal: Annals of neurology Issue: Volume 80:Issue 5(2016:Nov.) Page Start: 741 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. End‐Truncated LAMB1 Causes a Hippocampal Memory Defect and a Leukoencephalopathy. Issue 6 (20th October 2021) Authors: Aloui, Chaker; Hervé, Dominique; Marenne, Gaelle; Savenier, Florian; Le Guennec, Kilan; Bergametti, Francoise; Verdura, Edgard; Ludwig, Thomas E.; Lebenberg, Jessica; Jabeur, Waliyde; Morel, Hélène; Coste, Thibault; Demarquay, Geneviève; Bachoumas, Panagiotis; Cogez, Julien; Mathey, Guillaume; Be... Journal: Annals of neurology Issue: Volume 90:Issue 6(2021) Page Start: 962 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Rare variant association testing for multicategory phenotype. Issue 6 (13th May 2019) Authors: Bocher, Ozvan; Marenne, Gaëlle; Saint Pierre, Aude; Ludwig, Thomas E.; Guey, Stéphanie; Tournier‐Lasserve, Elisabeth; Perdry, Hervé; Génin, Emmanuelle Journal: Genetic epidemiology Issue: Volume 43:Issue 6(2019) Page Start: 646 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. RAVAQ: An integrative pipeline from quality control to region‐based rare variant association analysis. Issue 5 (14th April 2022) Authors: Marenne, Gaëlle; Ludwig, Thomas E.; Bocher, Ozvan; Herzig, Anthony F.; Aloui, Chaker; Tournier‐Lasserve, Elisabeth; Génin, Emmanuelle Journal: Genetic epidemiology Issue: Volume 46:Issue 5/6(2022) Page Start: 256 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Synopsis of Guidelines for the Clinical Management of Cerebral Cavernous Malformations: Consensus Recommendations Based on Systematic Literature Review by the Angioma Alliance Scientific Advisory Board Clinical Experts Panel. Issue 5 (May 2017) Authors: Akers, Amy; Al‐Shahi Salman, Rustam; A. Awad, Issam; Dahlem, Kristen; Flemming, Kelly; Hart, Blaine; Kim, Helen; Jusue‐Torres, Ignacio; Kondziolka, Douglas; Lee, Cornelia; Morrison, Leslie; Rigamonti, Daniele; Rebeiz, Tania; Tournier‐Lasserve, Elisabeth; Waggoner, Darrel; Whitehead, Kevin Journal: Neurosurgery Issue: Volume 80:Issue 5(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Systematic pharmacological screens uncover novel pathways involved in cerebral cavernous malformations. Issue 10 (4th September 2018) Authors: Otten, Cécile; Knox, Jessica; Boulday, Gwénola; Eymery, Mathias; Haniszewski, Marta; Neuenschwander, Martin; Radetzki, Silke; Vogt, Ingo; Hähn, Kristina; De Luca, Coralie; Cardoso, Cécile; Hamad, Sabri; Igual Gil, Carla; Roy, Peter; Albiges‐Rizo, Corinne; Faurobert, Eva; von Kries, Jens P; Campil... Journal: EMBO molecular medicine Issue: Volume 10:Issue 10(2018) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗