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

Year Number of Results
1990 1
1991 2
1992 3
1993 5
1994 5
1995 11
1996 8
1997 10
1998 9
1999 3
2000 2
2001 6
2002 8
2003 16
2004 6
2005 6
2006 5
2007 3
2008 9
2009 4
2010 4
2011 8
2012 10
2013 6
2014 7
2015 7
2016 7
2017 3
2018 4
2019 4
2020 4
2021 9
2022 5
2023 6
2024 1

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191 results

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Page 1
The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME.
Senderek J, Lassuthova P, Kabzińska D, Abreu L, Baets J, Beetz C, Braathen GJ, Brenner D, Dalton J, Dankwa L, Deconinck T, De Jonghe P, Dräger B, Eggermann K, Ellis M, Fischer C, Stojkovic T, Herrmann DN, Horvath R, Høyer H, Iglseder S, Kennerson M, Kinslechner K, Kohler JN, Kurth I, Laing NG, Lamont PJ, Wolfgang N L, Ludolph A, Marques W Jr, Nicholson G, Ong R, Petri S, Ravenscroft G, Rebelo A, Ricci G, Rudnik-Schöneborn S, Schirmacher A, Schlotter-Weigel B, Schoels L, Schüle R, Synofzik M, Francou B, Strom TM, Wagner J, Walk D, Wanschitz J, Weinmann D, Weishaupt J, Wiessner M, Windhager R, Young P, Züchner S, Toegel S, Seeman P, Kochański A, Auer-Grumbach M. Senderek J, et al. Among authors: rudnik schoneborn s. Neurology. 2020 Dec 15;95(24):e3163-e3179. doi: 10.1212/WNL.0000000000011132. Epub 2020 Nov 3. Neurology. 2020. PMID: 33144514 Free PMC article.
Pontocerebellar hypoplasia.
Rudnik-Schöneborn S, Barth PG, Zerres K. Rudnik-Schöneborn S, et al. Am J Med Genet C Semin Med Genet. 2014 Jun;166C(2):173-83. doi: 10.1002/ajmg.c.31403. Epub 2014 Jun 12. Am J Med Genet C Semin Med Genet. 2014. PMID: 24924738 Review.
Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies.
Auer-Grumbach M, Toegel S, Schabhüttl M, Weinmann D, Chiari C, Bennett DLH, Beetz C, Klein D, Andersen PM, Böhme I, Fink-Puches R, Gonzalez M, Harms MB, Motley W, Reilly MM, Renner W, Rudnik-Schöneborn S, Schlotter-Weigel B, Themistocleous AC, Weishaupt JH, Ludolph AC, Wieland T, Tao F, Abreu L, Windhager R, Zitzelsberger M, Strom TM, Walther T, Scherer SS, Züchner S, Martini R, Senderek J. Auer-Grumbach M, et al. Among authors: rudnik schoneborn s. Am J Hum Genet. 2016 Sep 1;99(3):607-623. doi: 10.1016/j.ajhg.2016.07.008. Am J Hum Genet. 2016. PMID: 27588448 Free PMC article.
Hereditary Neuropathies: Update 2017.
Rudnik-Schöneborn S, Auer-Grumbach M, Senderek J. Rudnik-Schöneborn S, et al. Neuropediatrics. 2017 Aug;48(4):282-293. doi: 10.1055/s-0037-1603518. Epub 2017 Jun 8. Neuropediatrics. 2017. PMID: 28597455 Review. No abstract available.
Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.
Maroofian R, Kaiyrzhanov R, Cali E, Zamani M, Zaki MS, Ferla M, Tortora D, Sadeghian S, Saadi SM, Abdullah U, Karimiani EG, Efthymiou S, Yeşil G, Alavi S, Al Shamsi AM, Tajsharghi H, Abdel-Hamid MS, Saadi NW, Al Mutairi F, Alabdi L, Beetz C, Ali Z, Toosi MB, Rudnik-Schöneborn S, Babaei M, Isohanni P, Muhammad J, Khan S, Al Shalan M, Hickey SE, Marom D, Elhanan E, Kurian MA, Marafi D, Saberi A, Hamid M, Spaull R, Meng L, Lalani S, Maqbool S, Rahman F, Seeger J, Palculict TB, Lau T, Murphy D, Mencacci NE, Steindl K, Begemann A, Rauch A, Akbas S, Aslanger AD, Salpietro V, Yousaf H, Ben-Shachar S, Ejeskär K, Al Aqeel AI, High FA, Armstrong-Javors AE, Zahraei SM, Seifi T, Zeighami J, Shariati G, Sedaghat A, Asl SN, Shahrooei M, Zifarelli G, Burglen L, Ravelli C, Zschocke J, Schatz UA, Ghavideldarestani M, Kamel WA, Van Esch H, Hackenberg A, Taylor JC, Al-Gazali L, Bauer P, Gleeson JJ, Alkuraya FS, Lupski JR, Galehdari H, Azizimalamiri R, Chung WK, Baig SM, Houlden H, Severino M. Maroofian R, et al. Among authors: rudnik schoneborn s. Brain. 2023 Dec 1;146(12):5031-5043. doi: 10.1093/brain/awad257. Brain. 2023. PMID: 37517035 Free PMC article.
Pregnancy and Delivery in Women With Congenital Myopathies.
Rudnik-Schöneborn S, Wallgren-Pettersson C. Rudnik-Schöneborn S, et al. Semin Pediatr Neurol. 2019 Apr;29:23-29. doi: 10.1016/j.spen.2019.01.006. Epub 2019 Jan 16. Semin Pediatr Neurol. 2019. PMID: 31060722 Review.
Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder.
Kour S, Rajan DS, Fortuna TR, Anderson EN, Ward C, Lee Y, Lee S, Shin YB, Chae JH, Choi M, Siquier K, Cantagrel V, Amiel J, Stolerman ES, Barnett SS, Cousin MA, Castro D, McDonald K, Kirmse B, Nemeth AH, Rajasundaram D, Innes AM, Lynch D, Frosk P, Collins A, Gibbons M, Yang M, Desguerre I, Boddaert N, Gitiaux C, Rydning SL, Selmer KK, Urreizti R, Garcia-Oguiza A, Osorio AN, Verdura E, Pujol A, McCurry HR, Landers JE, Agnihotri S, Andriescu EC, Moody SB, Phornphutkul C, Sacoto MJG, Begtrup A, Houlden H, Kirschner J, Schorling D, Rudnik-Schöneborn S, Strom TM, Leiz S, Juliette K, Richardson R, Yang Y, Zhang Y, Wang M, Wang J, Wang X, Platzer K, Donkervoort S, Bönnemann CG, Wagner M, Issa MY, Elbendary HM, Stanley V, Maroofian R, Gleeson JG, Zaki MS, Senderek J, Pandey UB. Kour S, et al. Among authors: rudnik schoneborn s. Nat Commun. 2021 May 7;12(1):2558. doi: 10.1038/s41467-021-22627-w. Nat Commun. 2021. PMID: 33963192 Free PMC article.
Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders.
Kaiyrzhanov R, Rad A, Lin SJ, Bertoli-Avella A, Kallemeijn WW, Godwin A, Zaki MS, Huang K, Lau T, Petree C, Efthymiou S, Ghayoor Karimiani E, Hempel M, Normand EA, Rudnik-Schöneborn S, Schatz UA, Baggelaar MP, Ilyas M, Sultan T, Alvi JR, Ganieva M, Fowler B, Aanicai R, Akay Tayfun G, Al Saman A, Alswaid A, Amiri N, Asilova N, Shotelersuk V, Yeetong P, Azam M, Babaei M, Bahrami Monajemi G, Mohammadi P, Samie S, Banu SH, Basto JP, Kortüm F, Bauer M, Bauer P, Beetz C, Garshasbi M, Hameed Issa A, Eyaid W, Ahmed H, Hashemi N, Hassanpour K, Herman I, Ibrohimov S, Abdul-Majeed BA, Imdad M, Isrofilov M, Kaiyal Q, Khan S, Kirmse B, Koster J, Lourenço CM, Mitani T, Moldovan O, Murphy D, Najafi M, Pehlivan D, Rocha ME, Salpietro V, Schmidts M, Shalata A, Mahroum M, Talbeya JK, Taylor RW, Vazquez D, Vetro A, Waterham HR, Zaman M, Schrader TA, Chung WK, Guerrini R, Lupski JR, Gleeson J, Suri M, Jamshidi Y, Bhatia KP, Vona B, Schrader M, Severino M, Guille M, Tate EW, Varshney GK, Houlden H, Maroofian R. Kaiyrzhanov R, et al. Among authors: rudnik schoneborn s. Brain. 2023 Nov 10:awad380. doi: 10.1093/brain/awad380. Online ahead of print. Brain. 2023. PMID: 37951597
[Johanson-Blizzard syndrome].
Rudnik-Schöneborn S, Keller B, Beemer FA, Pistor K, Swanenburg de Veye HF, Zerres K. Rudnik-Schöneborn S, et al. Klin Padiatr. 1991 Jan-Feb;203(1):33-8. doi: 10.1055/s-2007-1025396. Klin Padiatr. 1991. PMID: 2027265 German.
191 results