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Year Number of Results
1944 1
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1947 4
1948 3
1949 4
1950 3
1951 2
1953 2
1954 4
1955 6
1956 3
1958 1
1959 2
1960 5
1961 4
1962 4
1963 4
1964 4
1965 5
1966 6
1967 10
1968 5
1969 3
1970 6
1971 6
1972 5
1973 1
1974 2
1975 4
1976 3
1977 3
1978 1
1980 2
1981 1
1982 2
1985 3
1986 1
1987 4
1988 1
1989 5
1990 2
1991 2
1992 10
1993 10
1994 3
1995 8
1996 7
1997 11
1998 11
1999 9
2000 17
2001 15
2002 15
2003 9
2004 25
2005 25
2006 33
2007 39
2008 34
2009 26
2010 52
2011 41
2012 53
2013 39
2014 53
2015 43
2016 42
2017 44
2018 38
2019 41
2020 56
2021 74
2022 100
2023 69
2024 48

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1,125 results

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Page 1
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.
Nicolas A, Kenna KP, Renton AE, Ticozzi N, Faghri F, Chia R, Dominov JA, Kenna BJ, Nalls MA, Keagle P, Rivera AM, van Rheenen W, Murphy NA, van Vugt JJFA, Geiger JT, Van der Spek RA, Pliner HA, Shankaracharya, Smith BN, Marangi G, Topp SD, Abramzon Y, Gkazi AS, Eicher JD, Kenna A; ITALSGEN Consortium; Mora G, Calvo A, Mazzini L, Riva N, Mandrioli J, Caponnetto C, Battistini S, Volanti P, La Bella V, Conforti FL, Borghero G, Messina S, Simone IL, Trojsi F, Salvi F, Logullo FO, D'Alfonso S, Corrado L, Capasso M, Ferrucci L; Genomic Translation for ALS Care (GTAC) Consortium; Moreno CAM, Kamalakaran S, Goldstein DB; ALS Sequencing Consortium; Gitler AD, Harris T, Myers RM; NYGC ALS Consortium; Phatnani H, Musunuri RL, Evani US, Abhyankar A, Zody MC; Answer ALS Foundation; Kaye J, Finkbeiner S, Wyman SK, LeNail A, Lima L, Fraenkel E, Svendsen CN, Thompson LM, Van Eyk JE, Berry JD, Miller TM, Kolb SJ, Cudkowicz M, Baxi E; Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium; Benatar M, Taylor JP, Rampersaud E, Wu G, Wuu J; SLAGEN Consortium; Lauria G, Verde F, Fogh I, Tiloca C, Comi GP, Sorarù G, Cereda C; French ALS Consortium; Corcia P, Laaks… See abstract for full author list ➔ Nicolas A, et al. Among authors: polak m. Neuron. 2018 Mar 21;97(6):1267-1288. doi: 10.1016/j.neuron.2018.02.027. Neuron. 2018. PMID: 29566793 Free PMC article.
Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis.
Johnson JO, Chia R, Miller DE, Li R, Kumaran R, Abramzon Y, Alahmady N, Renton AE, Topp SD, Gibbs JR, Cookson MR, Sabir MS, Dalgard CL, Troakes C, Jones AR, Shatunov A, Iacoangeli A, Al Khleifat A, Ticozzi N, Silani V, Gellera C, Blair IP, Dobson-Stone C, Kwok JB, Bonkowski ES, Palvadeau R, Tienari PJ, Morrison KE, Shaw PJ, Al-Chalabi A, Brown RH Jr, Calvo A, Mora G, Al-Saif H, Gotkine M, Leigh F, Chang IJ, Perlman SJ, Glass I, Scott AI, Shaw CE, Basak AN, Landers JE, Chiò A, Crawford TO, Smith BN, Traynor BJ; FALS Sequencing Consortium; American Genome Center; International ALS Genomics Consortium; and ITALSGEN Consortium; Smith BN, Ticozzi N, Fallini C, Gkazi AS, Topp SD, Scotter EL, Kenna KP, Keagle P, Tiloca C, Vance C, Troakes C, Colombrita C, King A, Pensato V, Castellotti B, Baas F, Ten Asbroek ALMA, McKenna-Yasek D, McLaughlin RL, Polak M, Asress S, Esteban-Pérez J, Stevic Z, D'Alfonso S, Mazzini L, Comi GP, Del Bo R, Ceroni M, Gagliardi S, Querin G, Bertolin C, van Rheenen W, Rademakers R, van Blitterswijk M, Lauria G, Duga S, Corti S, Cereda C, Corrado L, Sorarù G, Williams KL, Nicholson GA, Blair IP, Leblond-Manry C, Rouleau GA, Hardiman O, Morrison KE, Veldink J… See abstract for full author list ➔ Johnson JO, et al. Among authors: polak m. JAMA Neurol. 2021 Oct 1;78(10):1236-1248. doi: 10.1001/jamaneurol.2021.2598. JAMA Neurol. 2021. PMID: 34459874 Free PMC article.
Fetal thyroïdology.
Polak M, Luton D. Polak M, et al. Best Pract Res Clin Endocrinol Metab. 2014 Mar;28(2):161-73. doi: 10.1016/j.beem.2013.04.013. Epub 2013 Jun 6. Best Pract Res Clin Endocrinol Metab. 2014. PMID: 24629859 Review.
Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study.
Groeneweg S, van Geest FS, Abacı A, Alcantud A, Ambegaonkar GP, Armour CM, Bakhtiani P, Barca D, Bertini ES, van Beynum IM, Brunetti-Pierri N, Bugiani M, Cappa M, Cappuccio G, Castellotti B, Castiglioni C, Chatterjee K, de Coo IFM, Coutant R, Craiu D, Crock P, DeGoede C, Demir K, Dica A, Dimitri P, Dolcetta-Capuzzo A, Dremmen MHG, Dubey R, Enderli A, Fairchild J, Gallichan J, George B, Gevers EF, Hackenberg A, Halász Z, Heinrich B, Huynh T, Kłosowska A, van der Knaap MS, van der Knoop MM, Konrad D, Koolen DA, Krude H, Lawson-Yuen A, Lebl J, Linder-Lucht M, Lorea CF, Lourenço CM, Lunsing RJ, Lyons G, Malikova J, Mancilla EE, McGowan A, Mericq V, Lora FM, Moran C, Müller KE, Oliver-Petit I, Paone L, Paul PG, Polak M, Porta F, Poswar FO, Reinauer C, Rozenkova K, Menevse TS, Simm P, Simon A, Singh Y, Spada M, van der Spek J, Stals MAM, Stoupa A, Subramanian GM, Tonduti D, Turan S, den Uil CA, Vanderniet J, van der Walt A, Wémeau JL, Wierzba J, de Wit MY, Wolf NI, Wurm M, Zibordi F, Zung A, Zwaveling-Soonawala N, Visser WE. Groeneweg S, et al. Among authors: polak m. Lancet Diabetes Endocrinol. 2020 Jul;8(7):594-605. doi: 10.1016/S2213-8587(20)30153-4. Lancet Diabetes Endocrinol. 2020. PMID: 32559475 Free PMC article.
Neonatal Diabetes Mellitus.
Beltrand J, Busiah K, Vaivre-Douret L, Fauret AL, Berdugo M, Cavé H, Polak M. Beltrand J, et al. Among authors: polak m. Front Pediatr. 2020 Sep 30;8:540718. doi: 10.3389/fped.2020.540718. eCollection 2020. Front Pediatr. 2020. PMID: 33102403 Free PMC article. Review.
European Society for Paediatric Endocrinology consensus guidelines on screening, diagnosis, and management of congenital hypothyroidism.
Léger J, Olivieri A, Donaldson M, Torresani T, Krude H, van Vliet G, Polak M, Butler G; ESPE-PES-SLEP-JSPE-APEG-APPES-ISPAE; Congenital Hypothyroidism Consensus Conference Group. Léger J, et al. Among authors: polak m. J Clin Endocrinol Metab. 2014 Feb;99(2):363-84. doi: 10.1210/jc.2013-1891. Epub 2014 Jan 21. J Clin Endocrinol Metab. 2014. PMID: 24446653 Free PMC article.
Challenges of Diphtheria Toxin Detection.
Prygiel M, Mosiej E, Polak M, Krysztopa-Grzybowska K, Wdowiak K, Formińska K, Zasada AA. Prygiel M, et al. Among authors: polak m. Toxins (Basel). 2024 May 26;16(6):245. doi: 10.3390/toxins16060245. Toxins (Basel). 2024. PMID: 38922140 Free PMC article. Review.
ALSUntangled #62: vitamin C.
Bedlack R, Barkhaus P, Carter G, Crayle J, Mcdermott C, Pattee G, Polak M, Salmon K, Wicks P. Bedlack R, et al. Among authors: polak m. Amyotroph Lateral Scler Frontotemporal Degener. 2022 Aug;23(5-6):476-479. doi: 10.1080/21678421.2021.1946088. Epub 2021 Jun 30. Amyotroph Lateral Scler Frontotemporal Degener. 2022. PMID: 34187257
Langerhans Cells-Programmed by the Epidermis.
Clayton K, Vallejo AF, Davies J, Sirvent S, Polak ME. Clayton K, et al. Among authors: polak me. Front Immunol. 2017 Nov 29;8:1676. doi: 10.3389/fimmu.2017.01676. eCollection 2017. Front Immunol. 2017. PMID: 29238347 Free PMC article. Review.
1,125 results