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Page 1
MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects.
Coursimault J, Guerrot AM, Morrow MM, Schramm C, Zamora FM, Shanmugham A, Liu S, Zou F, Bilan F, Le Guyader G, Bruel AL, Denommé-Pichon AS, Faivre L, Tran Mau-Them F, Tessarech M, Colin E, El Chehadeh S, Gérard B, Schaefer E, Cogne B, Isidor B, Nizon M, Doummar D, Valence S, Héron D, Keren B, Mignot C, Coutton C, Devillard F, Alaix AS, Amiel J, Colleaux L, Munnich A, Poirier K, Rio M, Rondeau S, Barcia G, Callewaert B, Dheedene A, Kumps C, Vergult S, Menten B, Chung WK, Hernan R, Larson A, Nori K, Stewart S, Wheless J, Kresge C, Pletcher BA, Caumes R, Smol T, Sigaudy S, Coubes C, Helm M, Smith R, Morrison J, Wheeler PG, Kritzer A, Jouret G, Afenjar A, Deleuze JF, Olaso R, Boland A, Poitou C, Frebourg T, Houdayer C, Saugier-Veber P, Nicolas G, Lecoquierre F. Coursimault J, et al. Among authors: helm m. Hum Genet. 2022 Jan;141(1):65-80. doi: 10.1007/s00439-021-02383-z. Epub 2021 Nov 8. Hum Genet. 2022. PMID: 34748075 Free article.
Recessive mutations in VPS13D cause childhood onset movement disorders.
Gauthier J, Meijer IA, Lessel D, Mencacci NE, Krainc D, Hempel M, Tsiakas K, Prokisch H, Rossignol E, Helm MH, Rodan LH, Karamchandani J, Carecchio M, Lubbe SJ, Telegrafi A, Henderson LB, Lorenzo K, Wallace SE, Glass IA, Hamdan FF, Michaud JL, Rouleau GA, Campeau PM. Gauthier J, et al. Among authors: helm mh. Ann Neurol. 2018 Jun;83(6):1089-1095. doi: 10.1002/ana.25204. Epub 2018 Apr 10. Ann Neurol. 2018. PMID: 29518281
The BabySeq project: implementing genomic sequencing in newborns.
Holm IA, Agrawal PB, Ceyhan-Birsoy O, Christensen KD, Fayer S, Frankel LA, Genetti CA, Krier JB, LaMay RC, Levy HL, McGuire AL, Parad RB, Park PJ, Pereira S, Rehm HL, Schwartz TS, Waisbren SE, Yu TW; BabySeq Project Team; Green RC, Beggs AH. Holm IA, et al. BMC Pediatr. 2018 Jul 9;18(1):225. doi: 10.1186/s12887-018-1200-1. BMC Pediatr. 2018. PMID: 29986673 Free PMC article. Clinical Trial.
A Monometallic Bis(cyaphido) Complex.
Levis MC, Helm ML, Turner JFC, Crossley IR. Levis MC, et al. Among authors: helm ml. Chemistry. 2024 May 10:e202303370. doi: 10.1002/chem.202303370. Online ahead of print. Chemistry. 2024. PMID: 38727553
Fluoropyrimidines trigger decay of hypomodified tRNA in yeast.
Görlitz K, Bessler L, Helm M, Schaffrath R, Klassen R. Görlitz K, et al. Among authors: helm m. Nucleic Acids Res. 2024 May 8:gkae341. doi: 10.1093/nar/gkae341. Online ahead of print. Nucleic Acids Res. 2024. PMID: 38716877
Functional redundancy in tRNA dihydrouridylation.
Sudol C, Kilz LM, Marchand V, Thullier Q, Guérineau V, Goyenvalle C, Faivre B, Toubdji S, Lombard M, Jean-Jean O, de Crécy-Lagard V, Helm M, Motorin Y, Brégeon D, Hamdane D. Sudol C, et al. Among authors: helm m. Nucleic Acids Res. 2024 Apr 29:gkae325. doi: 10.1093/nar/gkae325. Online ahead of print. Nucleic Acids Res. 2024. PMID: 38682613
ACSM1 and ACSM3 regulate fatty acid metabolism to support prostate cancer growth and constrain ferroptosis.
Shrestha RK, Nassar ZD, Hanson AR, Iggo R, Townley SL, Dehairs J, Mah CY, Helm M, Alizadeh-Ghodsi M, Pickering M, Ghesquiere B, Watt MJ, Quek LE, Hoy AJ, Tilley WD, Swinnen JV, Butler LM, Selth LA. Shrestha RK, et al. Among authors: helm m. Cancer Res. 2024 Apr 24. doi: 10.1158/0008-5472.CAN-23-1489. Online ahead of print. Cancer Res. 2024. PMID: 38657108
Factors Associated With Coronary Angiography Performed Within 6 Months of Randomization to the Conservative Strategy in the ISCHEMIA Trial.
Pracoń R, Spertus JA, Broderick S, Bangalore S, Rockhold FW, Ruzyllo W, Demchenko E, Nageh T, Grossman GB, Mavromatis K, Manjunath CN, Smanio PEP, Stone GW, Mancini GBJ, Boden WE, Newman JD, Reynolds HR, Hochman JS, Maron DJ; ISCHEMIA Research Group. Pracoń R, et al. Circ Cardiovasc Interv. 2024 Apr 17:e013435. doi: 10.1161/CIRCINTERVENTIONS.123.013435. Online ahead of print. Circ Cardiovasc Interv. 2024. PMID: 38629312
725 results