Search

Author/Creator Mei, Davide

31. SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance. Issue 19 (23rd May 2022)

Authors:
Cordovado, Amélie; Schaettin, Martina; Jeanne, Médéric; Panasenkava, Veranika; Denommé-Pichon, Anne-Sophie; Keren, Boris; Mignot, Cyril; Doco-Fenzy, Martine; Rodan, Lance; Ramsey, Keri; Narayanan, Vinodh; Jones, Julie R; Prijoles, Eloise J; Mitchell, Wendy G; Ozmore, Jillian R; Juliette, Kali; To...
Journal:
Human molecular genetics
Issue:
Volume 31:Issue 19(2022)
Page Start:
3325
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

32. Somatic double-hit in MTOR and RPS6 in hemimegalencephaly with intractable epilepsy. (14th August 2019)

Authors:
Pelorosso, Cristiana; Watrin, Françoise; Conti, Valerio; Buhler, Emmanuelle; Gelot, Antoinette; Yang, Xiaoxu; Mei, Davide; McEvoy-Venneri, Jennifer; Manent, Jean-Bernard; Cetica, Valentina; Ball, Laurel L; Buccoliero, Anna Maria; Vinck, Antonin; Barba, Carmen; Gleeson, Joseph G; Guerrini, Renzo; ...
Journal:
Human molecular genetics
Issue:
Volume 28:Number 22(2019)
Page Start:
3755
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

33. SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy. (8th January 2019)

Authors:
Vlaskamp, Danique R.M.; Shaw, Benjamin J.; Burgess, Rosemary; Mei, Davide; Montomoli, Martino; Xie, Han; Myers, Candace T.; Bennett, Mark F.; XiangWei, Wenshu; Williams, Danielle; Maas, Saskia M.; Brooks, Alice S.; Mancini, Grazia M.S.; van de Laar, Ingrid M.B.H.; van Hagen, Johanna M.; Ware, Tys...
Journal:
Neurology
Issue:
Volume 92:Number 2(2019)
Page Start:
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

34. Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients. Issue 5 (30th July 2016)

Authors:
de Kovel, Carolien G.F.; Brilstra, Eva H.; van Kempen, Marjan J.A.; van't Slot, Ruben; Nijman, Isaac J.; Afawi, Zaid; De Jonghe, Peter; Djémié, Tania; Guerrini, Renzo; Hardies, Katia; Helbig, Ingo; Hendrickx, Rik; Kanaan, Moine; Kramer, Uri; Lehesjoki, Anna‐Elina E.; Lemke, Johannes R.; Marini, C...
Other Names:
R Balling investigator.; N Barisic investigator.; S Baulac investigator.; HS Caglayan investigator.; DC Craiu investigator.; C Depienne investigator.; P Gormley investigator.; H Hjalgrim investigator.; D Hoffman‐Zacharska investigator.; J Jähn investigator.; KM Klein investigator.; V Komarek inve...
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 4:Issue 5(2016)
Page Start:
568
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗