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

Year Number of Results
1975 1
1976 6
1977 6
1978 7
1979 2
1980 6
1981 5
1982 4
1983 1
1984 2
1985 3
1986 8
1987 7
1988 8
1989 14
1990 5
1991 9
1992 8
1993 4
1994 8
1995 4
1996 9
1997 6
1998 6
1999 8
2000 4
2001 7
2002 9
2003 12
2004 11
2005 11
2006 19
2007 14
2008 22
2009 16
2010 17
2011 15
2012 14
2013 16
2014 13
2015 19
2016 19
2017 10
2018 14
2019 12
2020 7
2021 9
2022 12
2023 7
2024 6
2025 1

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416 results

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Page 1
Healthcare recommendations for Joubert syndrome.
Bachmann-Gagescu R, Dempsey JC, Bulgheroni S, Chen ML, D'Arrigo S, Glass IA, Heller T, Héon E, Hildebrandt F, Joshi N, Knutzen D, Kroes HY, Mack SH, Nuovo S, Parisi MA, Snow J, Summers AC, Symons JM, Zein WM, Boltshauser E, Sayer JA, Gunay-Aygun M, Valente EM, Doherty D. Bachmann-Gagescu R, et al. Among authors: boltshauser e. Am J Med Genet A. 2020 Jan;182(1):229-249. doi: 10.1002/ajmg.a.61399. Epub 2019 Nov 11. Am J Med Genet A. 2020. PMID: 31710777 Free PMC article. Review.
Neuroradiological Mimics of Periventricular Leukomalacia.
Reddy N, Doyle M, Hanagandi P, Taranath A, Dahmoush H, Krishnan P, Oztekin O, Boltshauser E, Shroff M, Mankad K. Reddy N, et al. Among authors: boltshauser e. J Child Neurol. 2022 Feb;37(2):151-167. doi: 10.1177/08830738211026052. Epub 2021 Dec 22. J Child Neurol. 2022. PMID: 34937403
Drug treatment.
Perlman S, Boltshauser E. Perlman S, et al. Among authors: boltshauser e. Handb Clin Neurol. 2018;155:371-377. doi: 10.1016/B978-0-444-64189-2.00024-X. Handb Clin Neurol. 2018. PMID: 29891072 Review.
Laboratory investigations.
Boltshauser E, Weber KP. Boltshauser E, et al. Handb Clin Neurol. 2018;154:287-298. doi: 10.1016/B978-0-444-63956-1.00017-5. Handb Clin Neurol. 2018. PMID: 29903445 Review.
Refining the Neuroimaging Definition of the Dandy-Walker Phenotype.
Whitehead MT, Barkovich MJ, Sidpra J, Alves CA, Mirsky DM, Öztekin Ö, Bhattacharya D, Lucato LT, Sudhakar S, Taranath A, Andronikou S, Prabhu SP, Aldinger KA, Haldipur P, Millen KJ, Barkovich AJ, Boltshauser E, Dobyns WB, Mankad K. Whitehead MT, et al. Among authors: boltshauser e. AJNR Am J Neuroradiol. 2022 Oct;43(10):1488-1493. doi: 10.3174/ajnr.A7659. Epub 2022 Sep 22. AJNR Am J Neuroradiol. 2022. PMID: 36137655 Free PMC article.
Nonprogressive congenital ataxias.
Bertini E, Zanni G, Boltshauser E. Bertini E, et al. Among authors: boltshauser e. Handb Clin Neurol. 2018;155:91-103. doi: 10.1016/B978-0-444-64189-2.00006-8. Handb Clin Neurol. 2018. PMID: 29891079 Review.
Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations.
Wolf NI, Vanderver A, van Spaendonk RM, Schiffmann R, Brais B, Bugiani M, Sistermans E, Catsman-Berrevoets C, Kros JM, Pinto PS, Pohl D, Tirupathi S, Strømme P, de Grauw T, Fribourg S, Demos M, Pizzino A, Naidu S, Guerrero K, van der Knaap MS, Bernard G; 4H Research Group. Wolf NI, et al. Neurology. 2014 Nov 18;83(21):1898-905. doi: 10.1212/WNL.0000000000001002. Epub 2014 Oct 22. Neurology. 2014. PMID: 25339210 Free PMC article.
Torcular Pseudomass.
Boltshauser E, Toelle SP, Scheer I, Hackenberg A. Boltshauser E, et al. Neuropediatrics. 2018 Jun;49(3):225-226. doi: 10.1055/s-0038-1635076. Epub 2018 Feb 27. Neuropediatrics. 2018. PMID: 29486503 No abstract available.
Anatomic Basis of Neurologic Disease.
Boltshauser E. Boltshauser E. Neuropediatrics. 2024 Aug;55(4):274-276. doi: 10.1055/s-0044-1786715. Epub 2024 May 22. Neuropediatrics. 2024. PMID: 38776977 No abstract available.
Fetal Diagnosis of Rhombencephalosynapsis.
Poretti A, Boltshauser E. Poretti A, et al. Among authors: boltshauser e. Neuropediatrics. 2015 Dec;46(6):357-8. doi: 10.1055/s-0035-1566754. Epub 2015 Nov 4. Neuropediatrics. 2015. PMID: 26535873 No abstract available.
416 results