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SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in mice.
El Chehadeh S, Han KA, Kim D, Jang G, Bakhtiari S, Lim D, Kim HY, Kim J, Kim H, Wynn J, Chung WK, Vitiello G, Cutcutache I, Page M, Gecz J, Harper K, Han AR, Kim HM, Wessels M, Bayat A, Jaén AF, Selicorni A, Maitz S, de Brouwer APM, Silfhout AV, Armstrong M, Symonds J, Küry S, Isidor B, Cogné B, Nizon M, Feger C, Muller J, Torti E, Grange DK, Willems M, Kruer MC, Ko J, Piton A, Um JW. El Chehadeh S, et al. Among authors: page m. Nat Commun. 2022 Jul 15;13(1):4112. doi: 10.1038/s41467-022-31566-z. Nat Commun. 2022. PMID: 35840571 Free PMC article.
Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.
Johnson BV, Kumar R, Oishi S, Alexander S, Kasherman M, Vega MS, Ivancevic A, Gardner A, Domingo D, Corbett M, Parnell E, Yoon S, Oh T, Lines M, Lefroy H, Kini U, Van Allen M, Grønborg S, Mercier S, Küry S, Bézieau S, Pasquier L, Raynaud M, Afenjar A, Billette de Villemeur T, Keren B, Désir J, Van Maldergem L, Marangoni M, Dikow N, Koolen DA, VanHasselt PM, Weiss M, Zwijnenburg P, Sa J, Reis CF, López-Otín C, Santiago-Fernández O, Fernández-Jaén A, Rauch A, Steindl K, Joset P, Goldstein A, Madan-Khetarpal S, Infante E, Zackai E, Mcdougall C, Narayanan V, Ramsey K, Mercimek-Andrews S, Pena L, Shashi V; Undiagnosed Diseases Network; Schoch K, Sullivan JA, Pinto E Vairo F, Pichurin PN, Ewing SA, Barnett SS, Klee EW, Perry MS, Koenig MK, Keegan CE, Schuette JL, Asher S, Perilla-Young Y, Smith LD, Rosenfeld JA, Bhoj E, Kaplan P, Li D, Oegema R, van Binsbergen E, van der Zwaag B, Smeland MF, Cutcutache I, Page M, Armstrong M, Lin AE, Steeves MA, Hollander ND, Hoffer MJV, Reijnders MRF, Demirdas S, Koboldt DC, Bartholomew D, Mosher TM, Hickey SE, Shieh C, Sanchez-Lara PA, Graham JM Jr, Tezcan K, Schaefer GB, Danylchuk NR, Asamoah A, Jackson KE, Yachelevich N, Au M, Pérez-Jurado LA… See abstract for full author list ➔ Johnson BV, et al. Among authors: page m. Biol Psychiatry. 2020 Jan 15;87(2):100-112. doi: 10.1016/j.biopsych.2019.05.028. Epub 2019 Jun 29. Biol Psychiatry. 2020. PMID: 31443933 Free PMC article.
Early-onset autoimmunity associated with SOCS1 haploinsufficiency.
Hadjadj J, Castro CN, Tusseau M, Stolzenberg MC, Mazerolles F, Aladjidi N, Armstrong M, Ashrafian H, Cutcutache I, Ebetsberger-Dachs G, Elliott KS, Durieu I, Fabien N, Fusaro M, Heeg M, Schmitt Y, Bras M, Knight JC, Lega JC, Lesca G, Mathieu AL, Moreews M, Moreira B, Nosbaum A, Page M, Picard C, Ronan Leahy T, Rouvet I, Ryan E, Sanlaville D, Schwarz K, Skelton A, Viallard JF, Viel S, Villard M, Callebaut I, Picard C, Walzer T, Ehl S, Fischer A, Neven B, Belot A, Rieux-Laucat F. Hadjadj J, et al. Among authors: page m. Nat Commun. 2020 Oct 21;11(1):5341. doi: 10.1038/s41467-020-18925-4. Nat Commun. 2020. PMID: 33087723 Free PMC article.
Early childhood epilepsies: epidemiology, classification, aetiology, and socio-economic determinants.
Symonds JD, Elliott KS, Shetty J, Armstrong M, Brunklaus A, Cutcutache I, Diver LA, Dorris L, Gardiner S, Jollands A, Joss S, Kirkpatrick M, McLellan A, MacLeod S, O'Regan M, Page M, Pilley E, Pilz DT, Stephen E, Stewart K, Ashrafian H, Knight JC, Zuberi SM. Symonds JD, et al. Among authors: page m. Brain. 2021 Oct 22;144(9):2879-2891. doi: 10.1093/brain/awab162. Brain. 2021. PMID: 34687210 Free PMC article.
SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder.
Del Dotto V, Ullah F, Di Meo I, Magini P, Gusic M, Maresca A, Caporali L, Palombo F, Tagliavini F, Baugh EH, Macao B, Szilagyi Z, Peron C, Gustafson MA, Khan K, La Morgia C, Barboni P, Carbonelli M, Valentino ML, Liguori R, Shashi V, Sullivan J, Nagaraj S, El-Dairi M, Iannaccone A, Cutcutache I, Bertini E, Carrozzo R, Emma F, Diomedi-Camassei F, Zanna C, Armstrong M, Page M, Stong N, Boesch S, Kopajtich R, Wortmann S, Sperl W, Davis EE, Copeland WC, Seri M, Falkenberg M, Prokisch H, Katsanis N, Tiranti V, Pippucci T, Carelli V. Del Dotto V, et al. Among authors: page m. J Clin Invest. 2020 Jan 2;130(1):108-125. doi: 10.1172/JCI128514. J Clin Invest. 2020. PMID: 31550240 Free PMC article.
A mouse model of human mitofusin-2-related lipodystrophy exhibits adipose-specific mitochondrial stress and reduced leptin secretion.
Mann JP, Duan X, Patel S, Tábara LC, Scurria F, Alvarez-Guaita A, Haider A, Luijten I, Page M, Protasoni M, Lim K, Virtue S, O'Rahilly S, Armstrong M, Prudent J, Semple RK, Savage DB. Mann JP, et al. Among authors: page m. Elife. 2023 Feb 1;12:e82283. doi: 10.7554/eLife.82283. Elife. 2023. PMID: 36722855 Free PMC article.
Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression.
Rocha N, Bulger DA, Frontini A, Titheradge H, Gribsholt SB, Knox R, Page M, Harris J, Payne F, Adams C, Sleigh A, Crawford J, Gjesing AP, Bork-Jensen J, Pedersen O, Barroso I, Hansen T, Cox H, Reilly M, Rossor A, Brown RJ, Taylor SI, McHale D, Armstrong M, Oral EA, Saudek V, O'Rahilly S, Maher ER, Richelsen B, Savage DB, Semple RK. Rocha N, et al. Among authors: page m. Elife. 2017 Apr 19;6:e23813. doi: 10.7554/eLife.23813. Elife. 2017. PMID: 28414270 Free PMC article.
The Stress of Measuring Plantar Tissue Stress in People with Diabetes-Related Foot Ulcers: Biomechanical and Feasibility Findings from Two Prospective Cohort Studies.
Hulshof CM, Page M, van Baal SG, Bus SA, Fernando ME, van Gemert-Pijnen L, Kappert KDR, Lucadou-Wells S, Najafi B, van Netten JJ, Lazzarini PA. Hulshof CM, et al. Among authors: page m. Sensors (Basel). 2024 Apr 10;24(8):2411. doi: 10.3390/s24082411. Sensors (Basel). 2024. PMID: 38676030 Free PMC article.
1,676 results