Publications - Page 7 of 29 - ERN ITHACA

GHB analogs confer neuroprotection through specific interaction with the CaMKIIα hub domain

Leurs U, Klein AB, McSpadden ED, Griem-Krey N, Solbak SMØ, Houlton J, Villumsen IS, Vogensen SB, Hamborg L, Gauger SJ, Palmelund LB, Larsen ASG, Shehata MA, Kelstrup CD, Olsen J v, Bach A, Burnie RO, Kerr DS, Gowing EK, Teurlings SMW, Chi CC, Gee CL, Frølund B, Kornum BR, van Woerden GM, Clausen RP, Kuriyan J, Clarkson AN, Wellendorph P

Proceedings of the National Academy of Sciences of the United States of America. 2021;118(31)
Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials

Garde A, Guibaud L, Goldenberg A, Petit F, Dard R, Roume J, Mazereeuw-Hautier J, Chassaing N, Lacombe D, Morice-Picard F, Toutain A, Arpin S, Boccara O, Touraine R, Blanchet P, Coubes C, Willems M, Pinson L, van Kien PK, Chiaverini C, Giuliano F, Alessandri J-L, Mathieu-Dramard M, Morin G, Bursztejn A-C, Mignot C, Doummar D, di Rocco F, Cornaton J, Nicolas C, Gautier E, Luu M, Bardou M, Sorlin A, Philippe C, Edery P, Rossi M, Carmignac V, Thauvin-Robinet C, Vabres P, Faivre L

Clinical genetics. 2021;99(5):650–61
Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism

Chopra M, McEntagart M, Clayton-Smith J, Platzer K, Shukla A, Girisha KM, Kaur A, Kaur P, Pfundt R, Veenstra-Knol H, Mancini GMS, Cappuccio G, Brunetti-Pierri N, Kortüm F, Hempel M, Denecke J, Lehman A, CAUSES Study, Kleefstra T, Stuurman KE, Wilke M, Thompson ML, Bebin EM, Bijlsma EK, Hoffer MJ v, Peeters-Scholte C, Slavotinek A, Weiss WA, Yip T, Hodoglugil U, Whittle A, diMonda J, Neira J, Yang S, Kirby A, Pinz H, Lechner R, Sleutels F, Helbig I, McKeown S, Helbig K, Willaert R, Juusola J, Semotok J, Hadonou M, Short J, Genomics England Research Consortium, Yachelevich N, Lala S, Fernández-Jaen A, Pelayo JP, Klöckner C, Kamphausen SB, Abou Jamra R, Arelin M, Innes AM, Niskakoski A, Amin S, Williams M, Evans J, Smithson S, Smedley D, de Burca A, Kini U, Delatycki MB, Gallacher L, Yeung A, Pais L, Field M, Martin E, Charles P, Courtin T, Keren B, Iascone M, Cereda A, Poke G, Abadie V, Chalouhi C, Parthasarathy P, Halliday BJ, Robertson SP, Lyonnet S, Amiel J, Gordon CT

American journal of human genetics. 2021;108(6):1138–50
IQSEC2 disorder: A new disease entity or a Rett spectrum continuum?

Lopergolo D, Privitera F, Castello G, lo Rizzo C, Mencarelli MA, Pinto AM, Ariani F, Currò A, Lamacchia V, Canitano R, Vaghi E, Ferrarini A, Baltodano GM, Lederer D, van Maldergem L, Serrano M, Pineda M, Fons‐Estupina MDC, van Esch H, Breckpot J, Kumps C, Callewaert B, Mueller S, Ramelli GP, Armstrong J, Renieri A, Mari F

Clinical Genetics. 2021 Mar 9;99(3):462–74
Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease

Cappuccio G, Ceccatelli Berti C, Baruffini E, Sullivan J, Shashi V, Jewett T, Stamper T, Maitz S, Canonico F, Revah-Politi A, Kupchik GS, Anyane-Yeboa K, Aggarwal V, Benneche A, Bratland E, Berland S, D’Arco F, Alves CA, Vanderver A, Longo D, Bertini E, Torella A, Nigro V, Telethon Undiagnosed Diseases Program, D’Amico A, van der Knaap MS, Goffrini P, Brunetti-Pierri N

Human mutation. 2021;42(6):745–61
Growth charts in Cockayne syndrome type 1 and type 2

Baer S, Tuzin N, Kang PB, Mohammed S, Kubota M, van Ierland Y, Busa T, Rossi M, Morel G, Michot C, Baujat G, Durand M, Obringer C, le May N, Calmels N, Laugel V

European journal of medical genetics. 2021 Jan;64(1):104105
Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy. Brain

Verdura E, Rodríguez-Palmero A, Vélez-Santamaria V, Planas-Serra L, de la Calle I, Raspall-Chaure M, Roubertie A, Benkirane M, Saettini F, Pavinato L, Mandrile G, O’Leary M, O’Heir E, Barredo E, Chacón A, Michaud V, Goizet C, Ruiz M, Schlüter A, Rouvet I, Sala-Coromina J, Fossati C, Iascone M, Canonico F, Marcé-Grau A, de Souza P, Adams DR, Casasnovas C, Rehm HL, Mefford HC, González Gutierrez-Solana L, Brusco A, Koenig M, Macaya A, Pujol A

Brain. 2021 Oct 22;144(9):2659–69
CD28.OX40 co-stimulatory combination is associated with long in vivo persistence and high activity of CAR.CD30 T-cells

Marika Guercio, Domenico Orlando, Stefano Di Cecca, Matilde Sinibaldi, Iolanda Boffa, Simona Caruso, Zeinab Abbaszadeh, Antonio Camera, Biancamaria Cembrola, Katia Bovetti, Simona Manni, Ignazio Caruana, Roselia Ciccone, Francesca Del Bufalo, pietro Merli, Luciana Vinti, Katia Girardi, Annalisa Ruggeri, Cristiano De Stefanis, Marco Pezzullo, Ezio Giorda, Marco Scarsella, Rita De Vito, Sabina Barresi, Andrea Ciolfi, Marco Tartaglia, Lorenzo Moretta, Franco Locatelli, Concetta Quintarelli, Biagio De Angelis

Haematologica. 2020 May 7;106(4):987–99
Embryopathy Following Maternal Biliopancreatic Diversion: Is Bariatric Surgery Really Safe? Obesity surgery

Onesimo R, Proli F, Leoni C, Contaldo I, Salerni A, Conti G, Tartaglia M, Zampino G

2021 Jan;31(1):445–50
Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications

Lissewski C, Chune V, Pantaleoni F, de Luca A, Capri Y, Brinkmann J, Lepri F, Daniele P, Leenders E, Mazzanti L, Scarano E, Radio FC, Kutsche K, Kuechler A, Gérard M, Ranguin K, Legendre M, Vial Y, van der Burgt I, Rinne T, Andreucci E, Mastromoro G, Digilio MC, Cave H, Tartaglia M, Zenker M

European journal of human genetics : EJHG. 2021;29(1):51–60