Results 81 to 90 of about 9,068 (100)
A dataset of patients with isolated and syndromic optic neuropathies linked to RTN4IP1 genetic variants. [PDF]
Sci DataRocatcher A, Dieu X, Desquiret-Dumas V, Billiet B, Chassaing N, Dollfus H, Meunier I, Rougier MB, Polfrit Y, Lenaers G, Milea D, Gohier P, Mirebeau-Prunier D, Amati-Bonneau P, Reynier P, Ferré M. +15 moreeuropepmc +1 more sourceDe novo variants in LDB1 are linked to distinct neurodevelopmental phenotypes determined by variant location and differing pathomechanisms. [PDF]
Am J Hum GenetFluri R, Coll-Tané M, Brunet T, Cogne B, Conrad S, Nizon M, Nicita F, Travaglini L, Novelli A, Glissmeyer M, Peterson A, Buchan JG, Serber D, Meier K, Gärtner J, Diegmann S, Pingault V, Attie-Bitach T, Courtin T, Schneider MC, Hung W, Sahai I, O'Grady L, Steindl K, Mehta SG, Depienne C, Heron D, Keren B, Heide S, McKee S, Laccone F, Dyer LM, Melver C, Motter C, Jones WD, Wilson ZT, Vats D, Huß K, Zweier C, Sticht H, Gregor A. +40 moreeuropepmc +1 more sourcePathological disruption of CELF2 shuttling causes neuronal hyperactivity, learning deficits, and seizures. [PDF]
J Clin InvestHua M, Aghanoori MR, MacPherson MJ, Ren Y, Siripala SV, Yang Y, Or YYY, Nguyen M, Duba-Kiss R, Feng D, Williams L, Gafuik CJ, Wang G, Quelin C, Keren B, Schuhmann S, Vasileiou G, Bourgois A, Vitobello A, Philippe C, Stark Z, Leventer RJ, McGillivray G, Tran Mau-Them F, Tessarech M, Prouteau C, Lakeman P, Motazacker MM, Latner DR, Caylor RC, van Ierland Y, Prijoles E, Lichty A, Theodorou E, Sweetser DA, Steel E, Cobben J, Dasouki MJ, Calame DG, Isidor B, Cogné B, Kesler M, Rackel B, Clark I, Kurrasch DM, Teskey GC, Ellis J, He G, Ryan SD, Mahoney DJ, Innes AM, Epp JR, Yang G. +52 moreeuropepmc +1 more sourceNeuropathy in GAA-FGF14 Late-Onset Cerebellar Ataxia (SCA27B): Prevalence and Characteristics. [PDF]
Eur J NeurolTheuriet J, Paulet L, Acket B, Ory-Magne F, Belbachir H, Chanson JB, Bouhour F, Laurencin C, Froment Tilikete C, Lardeux P, Clement G, Hocquel A, Renaud M, Bonnet C, Marelli C, Weber S, Comet C, Azulay JP, Fluchère F, Coarelli G, Heinzmann A, Ewenczyk C, Verny C, Guillet-Pichon V, Guyant-Marechal L, Desjardins C, Riou A, Degos B, Mercier S, Goizet C, Degoutin M, Angelini C, Laurens B, Degardin A, Carrière N, Le Guyader G, Schneider V, Dupont G, Thomas Q, Merindol M, Besse-Pinot E, Méneret A, Roze E, Durr A, Thobois S, Anheim M, Wirth T, Pegat A. +47 moreeuropepmc +1 more sourceComprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization. [PDF]
Eur J Hum GenetEngel C, Rendek M, Assoumani J, Argilli E, Ariani F, Avice-Denizet AL, Bijlsma EK, Blanc P, Bruno LP, Callewaert B, Capra V, Carullo M, Chesneau B, Coppens S, Curry C, Dale B, Dahlen E, Delahaye-Duriez A, Denommé-Pichon AS, Demeer B, Dvořáková L, Fischer J, Geneviève D, Giacomini T, Handrup MM, Heron D, Hüning I, Iacomino M, Isidor B, Keren B, Kmoch S, Koolen DA, Kübler A, Laštůvková J, Le C, Levy J, Rizzo CL, Maitz S, Marlin S, Mignot C, Mirzaa G, Nagel I, Neuens S, Nosková L, Pao E, Pecková A, Plaisancie J, Porrmann J, Privitera F, Reis A, Renieri A, Rio M, Rippert A, Ryba L, Scala M, Schieving JH, Sherr EH, Shuen A, Sidlow R, Smol T, Soblet J, Striano P, Suri M, Syryn H, Tran Mau-Them F, Travessa AM, Van Gils J, Vasileiou G, Verseput JJA, Vilain C, Vincent-Delorme C, Vyhnálková E, Wakeling EL, Zacher P, Zara F, Kuentz P, Piard J. +76 moreeuropepmc +1 more sourceThe mTOR-Dop1a-Agpat2 axis regulates nuclear phospholipid homeostasis. [PDF]
iScienceAriyama H, Tsukamura A, Miyatake S, Okado S, Itabashi I, Ogura A, Suzuki A, Kurakawa H, Sakaguchi Y, Nakatake Y, Sanada R, Terakado I, Koshimizu E, Mizuguchi T, Hamada K, Ogata K, Nakagawa E, Sakakibara T, Shirai M, Fujihara Y, Ullah M, Quinodoz M, Rivolta C, Khan AG, Khan MN, Ansar M, Gerkes EH, Rinne T, Stegmann APA, Sinnema M, Alghamdi MA, Alharby E, Balahmar RM, Almontashiri NAM, Baer S, Piton A, Curià CD, Mercier S, Cogné B, Yap P, Morita SY, Kakita A, Kato M, Maruo Y, Matsumoto N, Mori M. +45 moreeuropepmc +1 more source
