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65 results

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Page 1
Genetics of intellectual disability in consanguineous families.
Hu H, Kahrizi K, Musante L, Fattahi Z, Herwig R, Hosseini M, Oppitz C, Abedini SS, Suckow V, Larti F, Beheshtian M, Lipkowitz B, Akhtarkhavari T, Mehvari S, Otto S, Mohseni M, Arzhangi S, Jamali P, Mojahedi F, Taghdiri M, Papari E, Soltani Banavandi MJ, Akbari S, Tonekaboni SH, Dehghani H, Ebrahimpour MR, Bader I, Davarnia B, Cohen M, Khodaei H, Albrecht B, Azimi S, Zirn B, Bastami M, Wieczorek D, Bahrami G, Keleman K, Vahid LN, Tzschach A, Gärtner J, Gillessen-Kaesbach G, Varaghchi JR, Timmermann B, Pourfatemi F, Jankhah A, Chen W, Nikuei P, Kalscheuer VM, Oladnabi M, Wienker TF, Ropers HH, Najmabadi H. Hu H, et al. Among authors: bader i. Mol Psychiatry. 2019 Jul;24(7):1027-1039. doi: 10.1038/s41380-017-0012-2. Epub 2018 Jan 4. Mol Psychiatry. 2019. PMID: 29302074
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.
Snijders Blok L, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan LH, Nowak CB, Douglas J, Swoboda KJ, Steeves MA, Sahai I, Stumpel CTRM, Stegmann APA, Wheeler P, Willing M, Fiala E, Kochhar A, Gibson WT, Cohen ASA, Agbahovbe R, Innes AM, Au PYB, Rankin J, Anderson IJ, Skinner SA, Louie RJ, Warren HE, Afenjar A, Keren B, Nava C, Buratti J, Isapof A, Rodriguez D, Lewandowski R, Propst J, van Essen T, Choi M, Lee S, Chae JH, Price S, Schnur RE, Douglas G, Wentzensen IM, Zweier C, Reis A, Bialer MG, Moore C, Koopmans M, Brilstra EH, Monroe GR, van Gassen KLI, van Binsbergen E, Newbury-Ecob R, Bownass L, Bader I, Mayr JA, Wortmann SB, Jakielski KJ, Strand EA, Kloth K, Bierhals T; DDD study; Roberts JD, Petrovich RM, Machida S, Kurumizaka H, Lelieveld S, Pfundt R, Jansen S, Deriziotis P, Faivre L, Thevenon J, Assoum M, Shriberg L, Kleefstra T, Brunner HG, Wade PA, Fisher SE, Campeau PM. Snijders Blok L, et al. Among authors: bader i. Nat Commun. 2018 Nov 5;9(1):4619. doi: 10.1038/s41467-018-06014-6. Nat Commun. 2018. PMID: 30397230 Free PMC article.
Rationale and design of the BeyeOMARKER study: prospective evaluation of blood- and eye-based biomarkers for early detection of Alzheimer's disease pathology in the eye clinic.
Bader I, Groot C, Tan HS, Milongo JA, Haan JD, Verberk IMW, Yong K, Orellina J, Campbell S, Wilson D, van Harten AC, Kok PHB, van der Flier WM, Pijnenburg YAL, Barkhof F, van de Giessen E, Teunissen CE, Bouwman FH, Ossenkoppele R. Bader I, et al. Alzheimers Res Ther. 2024 Aug 21;16(1):190. doi: 10.1186/s13195-024-01545-1. Alzheimers Res Ther. 2024. PMID: 39169442 Free PMC article.
CAD mutations and uridine-responsive epileptic encephalopathy.
Koch J, Mayr JA, Alhaddad B, Rauscher C, Bierau J, Kovacs-Nagy R, Coene KL, Bader I, Holzhacker M, Prokisch H, Venselaar H, Wevers RA, Distelmaier F, Polster T, Leiz S, Betzler C, Strom TM, Sperl W, Meitinger T, Wortmann SB, Haack TB. Koch J, et al. Among authors: bader i. Brain. 2017 Feb;140(2):279-286. doi: 10.1093/brain/aww300. Epub 2016 Dec 21. Brain. 2017. PMID: 28007989
Association Between Years of Education and Amyloid Burden in Patients With Subjective Cognitive Decline, MCI, and Alzheimer Disease.
Hönig M, Altomare D, Caprioglio C, Collij L, Barkhof F, Van Berckel B, Scheltens P, Farrar G, Battle MR, Theis H, Giehl K, Bischof GN, Garibotto V, Molinuevo JLL, Grau-Rivera O, Delrieu J, Payoux P, Demonet JF, Nordberg AK, Savitcheva I, Walker Z, Edison P, Stephens AW, Gismondi R, Jessen F, Buckley CJ, Gispert JD, Frisoni GB, Drzezga A; AMYPAD Consortium. Hönig M, et al. Neurology. 2024 Mar 26;102(6):e208053. doi: 10.1212/WNL.0000000000208053. Epub 2024 Feb 20. Neurology. 2024. PMID: 38377442 Free PMC article.
Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype.
Isidor B, Ebstein F, Hurst A, Vincent M, Bader I, Rudy NL, Cogne B, Mayr J, Brehm A, Bupp C, Warren K, Bacino CA, Gerard A, Ranells JD, Metcalfe KA, van Bever Y, Jiang YH, Mendelssohn BA, Cope H, Rosenfeld JA, Blackburn PR, Goodenberger ML, Kearney HM, Kennedy J, Scurr I, Szczaluba K, Ploski R, de Saint Martin A, Alembik Y, Piton A, Bruel AL, Thauvin-Robinet C, Strong A, Diderich KEM, Bourgeois D, Dahan K, Vignard V, Bonneau D, Colin E, Barth M, Camby C, Baujat G, Briceño I, Gómez A, Deb W, Conrad S, Besnard T, Bézieau S, Krüger E, Küry S, Stankiewicz P. Isidor B, et al. Among authors: bader i. Genet Med. 2022 Jan;24(1):179-191. doi: 10.1016/j.gim.2021.09.005. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906456 Free article.
The amyloid imaging for the prevention of Alzheimer's disease consortium: A European collaboration with global impact.
Collij LE, Farrar G, Valléz García D, Bader I, Shekari M, Lorenzini L, Pemberton H, Altomare D, Pla S, Loor M, Markiewicz P, Yaqub M, Buckley C, Frisoni GB, Nordberg A, Payoux P, Stephens A, Gismondi R, Visser PJ, Ford L, Schmidt M, Birck C, Georges J, Mett A, Walker Z, Boada M, Drzezga A, Vandenberghe R, Hanseeuw B, Jessen F, Schöll M, Ritchie C, Lopes Alves I, Gispert JD, Barkhof F. Collij LE, et al. Among authors: bader i. Front Neurol. 2023 Jan 20;13:1063598. doi: 10.3389/fneur.2022.1063598. eCollection 2022. Front Neurol. 2023. PMID: 36761917 Free PMC article. Review.
65 results