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

Year Number of Results
1988 1
1990 2
1991 2
1992 1
1993 2
1994 3
1997 2
1998 2
1999 1
2000 4
2002 6
2003 2
2004 3
2005 2
2006 4
2007 3
2008 3
2009 3
2010 7
2011 4
2012 4
2013 8
2014 5
2015 8
2016 6
2017 7
2018 6
2019 6
2020 4
2021 1
2022 8
2023 8
2024 4

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117 results

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Page 1
Clinical practice guideline for the management of paediatric Charcot-Marie-Tooth disease.
Yiu EM, Bray P, Baets J, Baker SK, Barisic N, de Valle K, Estilow T, Farrar MA, Finkel RS, Haberlová J, Kennedy RA, Moroni I, Nicholson GA, Ramchandren S, Reilly MM, Rose K, Shy ME, Siskind CE, Yum SW, Menezes MP, Ryan MM, Burns J. Yiu EM, et al. Among authors: barisic n. J Neurol Neurosurg Psychiatry. 2022 May;93(5):530-538. doi: 10.1136/jnnp-2021-328483. Epub 2022 Feb 9. J Neurol Neurosurg Psychiatry. 2022. PMID: 35140138 Review.
Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder.
D'Onofrio G, Accogli A, Severino M, Caliskan H, Kokotović T, Blazekovic A, Jercic KG, Markovic S, Zigman T, Goran K, Barišić N, Duranovic V, Ban A, Borovecki F, Ramadža DP, Barić I, Fazeli W, Herkenrath P, Marini C, Vittorini R, Gowda V, Bouman A, Rocca C, Alkhawaja IA, Murtaza BN, Rehman MMU, Al Alam C, Nader G, Mancardi MM, Giacomini T, Srivastava S, Alvi JR, Tomoum H, Matricardi S, Iacomino M, Riva A, Scala M, Madia F, Pistorio A, Salpietro V, Minetti C, Rivière JB, Srour M, Efthymiou S, Maroofian R, Houlden H, Vernes SC, Zara F, Striano P, Nagy V. D'Onofrio G, et al. Among authors: barisic n. Hum Genet. 2023 Jul;142(7):909-925. doi: 10.1007/s00439-023-02552-2. Epub 2023 May 14. Hum Genet. 2023. PMID: 37183190 Free PMC article. Review.
The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations.
Bladen CL, Salgado D, Monges S, Foncuberta ME, Kekou K, Kosma K, Dawkins H, Lamont L, Roy AJ, Chamova T, Guergueltcheva V, Chan S, Korngut L, Campbell C, Dai Y, Wang J, Barišić N, Brabec P, Lahdetie J, Walter MC, Schreiber-Katz O, Karcagi V, Garami M, Viswanathan V, Bayat F, Buccella F, Kimura E, Koeks Z, van den Bergen JC, Rodrigues M, Roxburgh R, Lusakowska A, Kostera-Pruszczyk A, Zimowski J, Santos R, Neagu E, Artemieva S, Rasic VM, Vojinovic D, Posada M, Bloetzer C, Jeannet PY, Joncourt F, Díaz-Manera J, Gallardo E, Karaduman AA, Topaloğlu H, El Sherif R, Stringer A, Shatillo AV, Martin AS, Peay HL, Bellgard MI, Kirschner J, Flanigan KM, Straub V, Bushby K, Verschuuren J, Aartsma-Rus A, Béroud C, Lochmüller H. Bladen CL, et al. Among authors: barisic n. Hum Mutat. 2015 Apr;36(4):395-402. doi: 10.1002/humu.22758. Epub 2015 Mar 17. Hum Mutat. 2015. PMID: 25604253 Free PMC article.
Life-Saving Treatments for Spinal Muscular Atrophy: Global Access and Availability.
Armengol VD, Darras BT, Abulaban AA, Alshehri A, Barisic N, Ben-Omran T, Bernert G, Castiglioni C, Chien YH, Farrar MA, Kandawasvika G, Khadilkar S, Mah J, Marini-Bettolo C, Osredkar D, Pfeffer G, Piazzon FB, Pitarch Castellano I, Quijano-Roy S, Saito K, Shin JH, Vázquez-Costa JF, Walter MC, Wanigasinghe J, Xiong H, Griggs RC, Roy B. Armengol VD, et al. Among authors: barisic n. Neurol Clin Pract. 2024 Feb;14(1):e200224. doi: 10.1212/CPJ.0000000000200224. Epub 2023 Dec 15. Neurol Clin Pract. 2024. PMID: 38107546
A clinical diagnostic algorithm for early onset cerebellar ataxia.
Brandsma R, Verschuuren-Bemelmans CC, Amrom D, Barisic N, Baxter P, Bertini E, Blumkin L, Brankovic-Sreckovic V, Brouwer OF, Bürk K, Catsman-Berrevoets CE, Craiu D, de Coo IFM, Gburek J, Kennedy C, de Koning TJ, Kremer HPH, Kumar R, Macaya A, Micalizzi A, Mirabelli-Badenier M, Nemeth A, Nuovo S, Poll-The B, Lerman-Sagie T, Steinlin M, Synofzik M, Tijssen MAJ, Vasco G, Willemsen MAAP, Zanni G, Valente EM, Boltshauser E, Sival DA. Brandsma R, et al. Among authors: barisic n. Eur J Paediatr Neurol. 2019 Sep;23(5):692-706. doi: 10.1016/j.ejpn.2019.08.004. Epub 2019 Aug 10. Eur J Paediatr Neurol. 2019. PMID: 31481303 Review.
De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke.
Brunet T, Zott B, Lieftüchter V, Lenz D, Schmidt A, Peters P, Kopajtich R, Zaddach M, Zimmermann H, Hüning I, Ballhausen D, Staufner C, Bianzano A, Hughes J, Taylor RW, McFarland R, Devlin A, Mihaljević M, Barišić N, Rohlfs M, Wilfling S, Sondheimer N, Hewson S, Marinakis NM, Kosma K, Traeger-Synodinos J, Elbracht M, Begemann M, Trepels-Kottek S, Hasan D, Scala M, Capra V, Zara F, van der Ven AT, Driemeyer J, Apitz C, Krämer J, Strong A, Hakonarson H, Watson D, Mayr JA, Prokisch H, Meitinger T, Borggraefe I, Spiegler J, Baric I, Paolini M, Gerstl L, Wagner M. Brunet T, et al. Among authors: barisic n. Genet Med. 2024 Feb;26(2):101013. doi: 10.1016/j.gim.2023.101013. Epub 2023 Nov 1. Genet Med. 2024. PMID: 37924258
Temporal Dynamics of MOG Antibodies in Children With Acquired Demyelinating Syndrome.
Wendel EM, Thonke HS, Bertolini A, Baumann M, Blaschek A, Merkenschlager A, Karenfort M, Kornek B, Lechner C, Pohl D, Pritsch M, Schanda K, Schimmel M, Thiels C, Waltz S, Wiegand G, Anlar B, Barisic N, Blank C, Breu M, Broser P, Della Marina A, Diepold K, Eckenweiler M, Eisenkölbl A, Freilinger M, Gruber-Sedlmayr U, Hackenberg A, Iff T, Knierim E, Koch J, Kutschke G, Leiz S, Lischetzki G, Nosadini M, Pschibul A, Reiter-Fink E, Rohrbach D, Salandin M, Sartori S, Schlump JU, Stoffels J, Strautmanis J, Tibussek D, Tüngler V, Utzig N, Reindl M, Rostásy K; BIOMARKER Study Group. Wendel EM, et al. Among authors: barisic n. Neurol Neuroimmunol Neuroinflamm. 2022 Oct 13;9(6):e200035. doi: 10.1212/NXI.0000000000200035. Print 2022 Nov. Neurol Neuroimmunol Neuroinflamm. 2022. PMID: 36229191 Free PMC article.
117 results