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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1974 1
1979 1
2002 4
2003 11
2004 16
2005 15
2006 18
2007 20
2008 24
2009 24
2010 20
2011 19
2012 18
2013 30
2014 28
2015 28
2016 35
2017 27
2018 17
2019 37
2020 38
2021 37
2022 36
2023 31
2024 17

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472 results

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Page 1
Resequencing the complete SNCA locus in Indian patients with Parkinson's disease.
Kishore A, Sturm M, Soman Pillai K, Hakkaart C, Kalikavil Puthanveedu D, Urulangodi M, Krishnan S, Ashok Kumar Sreelatha A, Rajan R, Pal PK, Yadav R, Sarma G, Casadei N, Gasser T, Bauer P, Riess O, Sharma M. Kishore A, et al. Among authors: bauer p. NPJ Parkinsons Dis. 2024 Apr 15;10(1):85. doi: 10.1038/s41531-024-00676-4. NPJ Parkinsons Dis. 2024. PMID: 38622158 Free PMC article.
Reticulon 2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity.
Maroofian R, Sarraf P, O'Brien TJ, Kamel M, Cakar A, Elkhateeb N, Lau T, Patil SJ, Record CJ, Horga A, Essid M, Selim L, Benrhouma H, Ben Younes T, Zifarelli G, Pagnamenta AT, Bauer P, Khundadze M, Mirecki A, Kamel SM, Elmonem MA, Ghayoor Karimiani E, Jamshidi Y, Offiah AC, Rossor AM, Youssef-Turki IB, Hübner CA, Munot P, Reilly MM, Brown AEX, Nagy S, Houlden H. Maroofian R, et al. Among authors: bauer p. Brain. 2024 Mar 25:awae091. doi: 10.1093/brain/awae091. Online ahead of print. Brain. 2024. PMID: 38527963
Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications.
Chelban V, Aksnes H, Maroofian R, LaMonica LC, Seabra L, Siggervåg A, Devic P, Shamseldin HE, Vandrovcova J, Murphy D, Richard AC, Quenez O, Bonnevalle A, Zanetti MN, Kaiyrzhanov R, Salpietro V, Efthymiou S, Schottlaender LV, Morsy H, Scardamaglia A, Tariq A, Pagnamenta AT, Pennavaria A, Krogstad LS, Bekkelund ÅK, Caiella A, Glomnes N, Brønstad KM, Tury S, Moreno De Luca A, Boland-Auge A, Olaso R, Deleuze JF, Anheim M, Cretin B, Vona B, Alajlan F, Abdulwahab F, Battini JL, İpek R, Bauer P, Zifarelli G, Gungor S, Kurul SH, Lochmuller H, Da'as SI, Fakhro KA, Gómez-Pascual A, Botía JA, Wood NW, Horvath R, Ernst AM, Rothman JE, McEntagart M, Crow YJ, Alkuraya FS, Nicolas G; SYNaPS Study Group; Arnesen T, Houlden H. Chelban V, et al. Among authors: bauer p. Nat Commun. 2024 Mar 13;15(1):2269. doi: 10.1038/s41467-024-46354-0. Nat Commun. 2024. PMID: 38480682 Free PMC article.
Penetrance, variable expressivity and monogenic neurodevelopmental disorders.
de Masfrand S, Cogné B, Nizon M, Deb W, Goldenberg A, Lecoquierre F, Nicolas G, Bournez M, Vitobello A, Mau-Them FT, le Guyader G, Bilan F, Bauer P, Zweier C, Piard J, Pasquier L, Bézieau S, Gerard B, Faivre L, Saugier-Veber P, Piton A, Isidor B. de Masfrand S, et al. Among authors: bauer p. Eur J Med Genet. 2024 Mar 5;69:104932. doi: 10.1016/j.ejmg.2024.104932. Online ahead of print. Eur J Med Genet. 2024. PMID: 38453051 Free article.
RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS.
Dharmadhikari AV, Abad MA, Khan S, Maroofian R, Sands TT, Ullah F, Samejima I, Wear MA, Moore KE, Kondakova E, Mitina N, Schaub T, Lee GK, Umandap CH, Berger SM, Iglesias AD, Popp B, Jamra RA, Gabriel H, Rentas S, Rippert AL, Izumi K, Conlin LK, Koboldt DC, Mosher TM, Hickey SE, Albert DVF, Norwood H, Lewanda AF, Dai H, Liu P, Mitani T, Marafi D, Pehlivan D, Posey JE, Lippa N, Vena N, Heinzen EL, Goldstein DB, Mignot C, de Sainte Agathe JM, Al-Sannaa NA, Zamani M, Sadeghian S, Azizimalamiri R, Seifia T, Zaki MS, Abdel-Salam GMH, Abdel-Hamid M, Alabdi L, Alkuraya FS, Dawoud H, Lofty A, Bauer P, Zifarelli G, Afzal E, Zafar F, Efthymiou S, Gossett D, Towne MC, Yeneabat R, Wontakal SN, Aggarwal VS, Rosenfeld JA, Tarabykin V, Ohta S, Lupski JR, Houlden H, Earnshaw WC, Davis EE, Jeyaprakash AA, Liao J. Dharmadhikari AV, et al. Among authors: bauer p. medRxiv [Preprint]. 2024 Jan 9:2024.01.09.23300329. doi: 10.1101/2024.01.09.23300329. medRxiv. 2024. PMID: 38260255 Free PMC article. Preprint.
A case of 18p chromosomal deletion encompassing GNAL in a patient with dystonia-parkinsonism.
Di Rauso G, Cavallieri F, Monfrini E, Fraternali A, Fioravanti V, Grisanti S, Gessani A, Campanini I, Merlo A, Toschi G, Napoli M, Pascarella R, Silipigni R, Finelli P, Paul JJ, Bauer P, Versari A, Di Fonzo A, Valzania F. Di Rauso G, et al. Among authors: bauer p. J Mov Disord. 2024 Jan 23. doi: 10.14802/jmd.23222. Online ahead of print. J Mov Disord. 2024. PMID: 38258373 Free article. No abstract available.
472 results