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

Year Number of Results
1949 1
1972 2
1973 2
1974 2
1977 2
1978 2
1979 1
1980 3
1982 1
1983 2
1984 1
1986 3
1988 1
1990 1
1991 1
1993 1
1995 3
1998 1
2000 1
2001 2
2002 3
2003 5
2004 5
2005 19
2006 24
2007 20
2008 18
2009 18
2010 12
2011 16
2012 11
2013 13
2014 13
2015 8
2016 8
2017 11
2018 9
2019 10
2020 14
2021 17
2022 16
2023 2
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Search Results

273 results
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Page 1
Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.
Gillentine MA, Wang T, Hoekzema K, Rosenfeld J, Liu P, Guo H, Kim CN, De Vries BBA, Vissers LELM, Nordenskjold M, Kvarnung M, Lindstrand A, Nordgren A, Gecz J, Iascone M, Cereda A, Scatigno A, Maitz S, Zanni G, Bertini E, Zweier C, Schuhmann S, Wiesener A, Pepper M, Panjwani H, Torti E, Abid F, Anselm I, Srivastava S, Atwal P, Bacino CA, Bhat G, Cobian K, Bird LM, Friedman J, Wright MS, Callewaert B, Petit F, Mathieu S, Afenjar A, Christensen CK, White KM, Elpeleg O, Berger I, Espineli EJ, Fagerberg C, Brasch-Andersen C, Hansen LK, Feyma T, Hughes S, Thiffault I, Sullivan B, Yan S, Keller K, Keren B, Mignot C, Kooy F, Meuwissen M, Basinger A, Kukolich M, Philips M, Ortega L, Drummond-Borg M, Lauridsen M, Sorensen K, Lehman A; CAUSES Study; Lopez-Rangel E, Levy P, Lessel D, Lotze T, Madan-Khetarpal S, Sebastian J, Vento J, Vats D, Benman LM, Mckee S, Mirzaa GM, Muss C, Pappas J, Peeters H, Romano C, Elia M, Galesi O, Simon MEH, van Gassen KLI, Simpson K, Stratton R, Syed S, Thevenon J, Palafoll IV, Vitobello A, Bournez M, Faivre L, Xia K; SPARK Consortium; Earl RK, Nowakowski T, Bernier RA, Eichler EE. Gillentine MA, et al. Among authors: zanni g. Genome Med. 2021 Apr 19;13(1):63. doi: 10.1186/s13073-021-00870-6. Genome Med. 2021. PMID: 33874999 Free PMC article.
Heterozygous KIF1A variants underlie a wide spectrum of neurodevelopmental and neurodegenerative disorders.
Nicita F, Ginevrino M, Travaglini L, D'Arrigo S, Zorzi G, Borgatti R, Terrone G, Catteruccia M, Vasco G, Brankovic V, Siliquini S, Romano S, Veredice C, Pedemonte M, Armando M, Lettori D, Stregapede F, Bosco L, Sferra A, Tessarollo V, Romaniello R, Ristori G, Bertini E, Valente EM, Zanni G. Nicita F, et al. Among authors: zanni g. J Med Genet. 2021 Jul;58(7):475-483. doi: 10.1136/jmedgenet-2020-107007. Epub 2020 Jul 31. J Med Genet. 2021. PMID: 32737135
De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia.
Van de Vondel L, De Winter J, Beijer D, Coarelli G, Wayand M, Palvadeau R, Pauly MG, Klein K, Rautenberg M, Guillot-Noël L, Deconinck T, Vural A, Ertan S, Dogu O, Uysal H, Brankovic V, Herzog R, Brice A, Durr A, Klebe S, Stock F, Bischoff AT, Rattay TW, Sobrido MJ, De Michele G, De Jonghe P, Klopstock T, Lohmann K, Zanni G, Santorelli FM, Timmerman V, Haack TB, Züchner S; PREPARE Consortium; Schüle R, Stevanin G, Synofzik M, Basak AN, Baets J. Van de Vondel L, et al. Among authors: zanni g. Mov Disord. 2022 Jun;37(6):1175-1186. doi: 10.1002/mds.28959. Epub 2022 Feb 12. Mov Disord. 2022. PMID: 35150594
Clinical phenotypes of infantile onset CACNA1A-related disorder.
Gur-Hartman T, Berkowitz O, Yosovich K, Roubertie A, Zanni G, Macaya A, Heimer G, Dueñas BP, Sival DA, Pode-Shakked B, López-Laso E, Humbertclaude V, Riant F, Bosco L, Cayron LB, Nissenkorn A, Nicita F, Bertini E, Hassin S, Ben Zeev B, Zerem A, Libzon S, Lev D, Linder I, Lerman-Sagie T, Blumkin L. Gur-Hartman T, et al. Among authors: zanni g. Eur J Paediatr Neurol. 2021 Jan;30:144-154. doi: 10.1016/j.ejpn.2020.10.004. Epub 2020 Oct 20. Eur J Paediatr Neurol. 2021. PMID: 33349592
X-linked ataxias.
Zanni G, Bertini E. Zanni G, et al. Handb Clin Neurol. 2018;155:175-189. doi: 10.1016/B978-0-444-64189-2.00011-1. Handb Clin Neurol. 2018. PMID: 29891057 Review.
Nonprogressive congenital ataxias.
Bertini E, Zanni G, Boltshauser E. Bertini E, et al. Among authors: zanni g. Handb Clin Neurol. 2018;155:91-103. doi: 10.1016/B978-0-444-64189-2.00006-8. Handb Clin Neurol. 2018. PMID: 29891079 Review.
Understanding amputation.
Zanni GR, Wick JY. Zanni GR, et al. Consult Pharm. 2008 Dec;23(12):944-8, 953-4. doi: 10.4140/tcp.n.2008.944. Consult Pharm. 2008. PMID: 19275463
Diagnosing and treating fibromyalgia.
Zanni GR. Zanni GR. Consult Pharm. 2009 Aug;24(8):572-8, 583-4, 587-9. doi: 10.4140/tcp.n.2009.572. Consult Pharm. 2009. PMID: 19689173 Review.
Hypochondria: the worried well.
Wick JY, Zanni GR. Wick JY, et al. Among authors: zanni gr. Consult Pharm. 2008 Mar;23(3):192-4, 196-8, 207-8. doi: 10.4140/tcp.n.2008.192. Consult Pharm. 2008. PMID: 18454583 Review.
273 results