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Page 1
Spinocerebellar ataxia type 11 (SCA11) is an uncommon cause of dominant ataxia among French and German kindreds.
Bauer P, Stevanin G, Beetz C, Synofzik M, Schmitz-Hübsch T, Wüllner U, Berthier E, Ollagnon-Roman E, Riess O, Forlani S, Mundwiller E, Durr A, Schöls L, Brice A. Bauer P, et al. Among authors: mundwiller e. J Neurol Neurosurg Psychiatry. 2010 Nov;81(11):1229-32. doi: 10.1136/jnnp.2009.202150. Epub 2010 Jul 28. J Neurol Neurosurg Psychiatry. 2010. PMID: 20667868
GRID2 mutations span from congenital to mild adult-onset cerebellar ataxia.
Coutelier M, Burglen L, Mundwiller E, Abada-Bendib M, Rodriguez D, Chantot-Bastaraud S, Rougeot C, Cournelle MA, Milh M, Toutain A, Bacq D, Meyer V, Afenjar A, Deleuze JF, Brice A, Héron D, Stevanin G, Durr A. Coutelier M, et al. Among authors: mundwiller e. Neurology. 2015 Apr 28;84(17):1751-9. doi: 10.1212/WNL.0000000000001524. Epub 2015 Apr 3. Neurology. 2015. PMID: 25841024
Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25.
Barbier M, Bahlo M, Pennisi A, Jacoupy M, Tankard RM, Ewenczyk C, Davies KC, Lino-Coulon P, Colace C, Rafehi H, Auger N, Ansell BRE, van der Stelt I, Howell KB, Coutelier M, Amor DJ, Mundwiller E, Guillot-Noël L, Storey E, Gardner RJM, Wallis MJ, Brusco A, Corti O, Rötig A, Leventer RJ, Brice A, Delatycki MB, Stevanin G, Lockhart PJ, Durr A. Barbier M, et al. Among authors: mundwiller e. Ann Neurol. 2022 Jul;92(1):122-137. doi: 10.1002/ana.26366. Epub 2022 May 7. Ann Neurol. 2022. PMID: 35411967 Free article.
Mutations in KCND3 cause spinocerebellar ataxia type 22.
Lee YC, Durr A, Majczenko K, Huang YH, Liu YC, Lien CC, Tsai PC, Ichikawa Y, Goto J, Monin ML, Li JZ, Chung MY, Mundwiller E, Shakkottai V, Liu TT, Tesson C, Lu YC, Brice A, Tsuji S, Burmeister M, Stevanin G, Soong BW. Lee YC, et al. Among authors: mundwiller e. Ann Neurol. 2012 Dec;72(6):859-69. doi: 10.1002/ana.23701. Ann Neurol. 2012. PMID: 23280837 Free PMC article.
A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia.
Coutelier M, Blesneac I, Monteil A, Monin ML, Ando K, Mundwiller E, Brusco A, Le Ber I, Anheim M, Castrioto A, Duyckaerts C, Brice A, Durr A, Lory P, Stevanin G. Coutelier M, et al. Among authors: mundwiller e. Am J Hum Genet. 2015 Nov 5;97(5):726-37. doi: 10.1016/j.ajhg.2015.09.007. Epub 2015 Oct 8. Am J Hum Genet. 2015. PMID: 26456284 Free PMC article.
A genome-scale DNA repair RNAi screen identifies SPG48 as a novel gene associated with hereditary spastic paraplegia.
Słabicki M, Theis M, Krastev DB, Samsonov S, Mundwiller E, Junqueira M, Paszkowski-Rogacz M, Teyra J, Heninger AK, Poser I, Prieur F, Truchetto J, Confavreux C, Marelli C, Durr A, Camdessanche JP, Brice A, Shevchenko A, Pisabarro MT, Stevanin G, Buchholz F. Słabicki M, et al. Among authors: mundwiller e. PLoS Biol. 2010 Jun 29;8(6):e1000408. doi: 10.1371/journal.pbio.1000408. PLoS Biol. 2010. PMID: 20613862 Free PMC article.
Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia.
Esteves T, Durr A, Mundwiller E, Loureiro JL, Boutry M, Gonzalez MA, Gauthier J, El-Hachimi KH, Depienne C, Muriel MP, Acosta Lebrigio RF, Gaussen M, Noreau A, Speziani F, Dionne-Laporte A, Deleuze JF, Dion P, Coutinho P, Rouleau GA, Zuchner S, Brice A, Stevanin G, Darios F. Esteves T, et al. Among authors: mundwiller e. Am J Hum Genet. 2014 Feb 6;94(2):268-77. doi: 10.1016/j.ajhg.2013.12.005. Epub 2014 Jan 2. Am J Hum Genet. 2014. PMID: 24388663 Free PMC article.
Fe/S protein assembly gene IBA57 mutation causes hereditary spastic paraplegia.
Lossos A, Stümpfig C, Stevanin G, Gaussen M, Zimmerman BE, Mundwiller E, Asulin M, Chamma L, Sheffer R, Misk A, Dotan S, Gomori JM, Ponger P, Brice A, Lerer I, Meiner V, Lill R. Lossos A, et al. Among authors: mundwiller e. Neurology. 2015 Feb 17;84(7):659-67. doi: 10.1212/WNL.0000000000001270. Epub 2015 Jan 21. Neurology. 2015. PMID: 25609768
The impact of rare variants in FUS in essential tremor.
Hopfner F, Stevanin G, Müller SH, Mundwiller E, Bungeroth M, Durr A, Pendziwiat M, Anheim M, Schneider SA, Tittmann L, Klebe S, Lorenz D, Deuschl G, Brice A, Kuhlenbäumer G. Hopfner F, et al. Among authors: mundwiller e. Mov Disord. 2015 Apr 15;30(5):721-4. doi: 10.1002/mds.26145. Epub 2015 Jan 28. Mov Disord. 2015. PMID: 25631824
27 results