Züchner S - Search Results

1

GAA-FGF14 ataxia (SCA27B): phenotypic profile, natural history progression and 4-aminopyridine treatment response.

Wilke C, Pellerin D, Mengel D, Traschütz A, Danzi MC, Dicaire MJ, Neumann M, Lerche H, Bender B, Houlden H; RFC1 study group; Züchner S, Schöls L, Brais B, Synofzik M. Wilke C, et al. Among authors: zuchner s. Brain. 2023 Oct 3;146(10):4144-4157. doi: 10.1093/brain/awad157. Brain. 2023. PMID: 37165652

2

REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31.

Beetz C, Schüle R, Deconinck T, Tran-Viet KN, Zhu H, Kremer BP, Frints SG, van Zelst-Stams WA, Byrne P, Otto S, Nygren AO, Baets J, Smets K, Ceulemans B, Dan B, Nagan N, Kassubek J, Klimpe S, Klopstock T, Stolze H, Smeets HJ, Schrander-Stumpel CT, Hutchinson M, van de Warrenburg BP, Braastad C, Deufel T, Pericak-Vance M, Schöls L, de Jonghe P, Züchner S. Beetz C, et al. Among authors: zuchner s. Brain. 2008 Apr;131(Pt 4):1078-86. doi: 10.1093/brain/awn026. Epub 2008 Mar 5. Brain. 2008. PMID: 18321925 Free PMC article.

3

Mutations in phospholipase DDHD2 cause autosomal recessive hereditary spastic paraplegia (SPG54).

Gonzalez M, Nampoothiri S, Kornblum C, Oteyza AC, Walter J, Konidari I, Hulme W, Speziani F, Schöls L, Züchner S, Schüle R. Gonzalez M, et al. Among authors: zuchner s. Eur J Hum Genet. 2013 Nov;21(11):1214-8. doi: 10.1038/ejhg.2013.29. Epub 2013 Mar 13. Eur J Hum Genet. 2013. PMID: 23486545 Free PMC article.

4

Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2.

Gonzalez M, McLaughlin H, Houlden H, Guo M, Yo-Tsen L, Hadjivassilious M, Speziani F, Yang XL, Antonellis A, Reilly MM, Züchner S; Inherited Neuropathy Consortium. Gonzalez M, et al. Among authors: zuchner s. J Neurol Neurosurg Psychiatry. 2013 Nov;84(11):1247-9. doi: 10.1136/jnnp-2013-305049. Epub 2013 Jun 1. J Neurol Neurosurg Psychiatry. 2013. PMID: 23729695 Free PMC article.

5

Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2.

Foley AR, Menezes MP, Pandraud A, Gonzalez MA, Al-Odaib A, Abrams AJ, Sugano K, Yonezawa A, Manzur AY, Burns J, Hughes I, McCullagh BG, Jungbluth H, Lim MJ, Lin JP, Megarbane A, Urtizberea JA, Shah AH, Antony J, Webster R, Broomfield A, Ng J, Mathew AA, O'Byrne JJ, Forman E, Scoto M, Prasad M, O'Brien K, Olpin S, Oppenheim M, Hargreaves I, Land JM, Wang MX, Carpenter K, Horvath R, Straub V, Lek M, Gold W, Farrell MO, Brandner S, Phadke R, Matsubara K, McGarvey ML, Scherer SS, Baxter PS, King MD, Clayton P, Rahman S, Reilly MM, Ouvrier RA, Christodoulou J, Züchner S, Muntoni F, Houlden H. Foley AR, et al. Among authors: zuchner s. Brain. 2014 Jan;137(Pt 1):44-56. doi: 10.1093/brain/awt315. Epub 2013 Nov 19. Brain. 2014. PMID: 24253200 Free PMC article.

6

PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum.

Synofzik M, Gonzalez MA, Lourenco CM, Coutelier M, Haack TB, Rebelo A, Hannequin D, Strom TM, Prokisch H, Kernstock C, Durr A, Schöls L, Lima-Martínez MM, Farooq A, Schüle R, Stevanin G, Marques W Jr, Züchner S. Synofzik M, et al. Among authors: zuchner s. Brain. 2014 Jan;137(Pt 1):69-77. doi: 10.1093/brain/awt326. Epub 2013 Dec 19. Brain. 2014. PMID: 24355708 Free PMC article.

7

Phenotype and frequency of STUB1 mutations: next-generation screenings in Caucasian ataxia and spastic paraplegia cohorts.

Synofzik M, Schüle R, Schulze M, Gburek-Augustat J, Schweizer R, Schirmacher A, Krägeloh-Mann I, Gonzalez M, Young P, Züchner S, Schöls L, Bauer P. Synofzik M, et al. Among authors: zuchner s. Orphanet J Rare Dis. 2014 Apr 17;9:57. doi: 10.1186/1750-1172-9-57. Orphanet J Rare Dis. 2014. PMID: 24742043 Free PMC article.

8

Motor protein mutations cause a new form of hereditary spastic paraplegia.

Caballero Oteyza A, Battaloğlu E, Ocek L, Lindig T, Reichbauer J, Rebelo AP, Gonzalez MA, Zorlu Y, Ozes B, Timmann D, Bender B, Woehlke G, Züchner S, Schöls L, Schüle R. Caballero Oteyza A, et al. Among authors: zuchner s. Neurology. 2014 Jun 3;82(22):2007-16. doi: 10.1212/WNL.0000000000000479. Epub 2014 May 7. Neurology. 2014. PMID: 24808017 Free PMC article.

9

Pure and syndromic optic atrophy explained by deep intronic OPA1 mutations and an intralocus modifier.

Bonifert T, Karle KN, Tonagel F, Batra M, Wilhelm C, Theurer Y, Schoenfeld C, Kluba T, Kamenisch Y, Carelli V, Wolf J, Gonzalez MA, Speziani F, Schüle R, Züchner S, Schöls L, Wissinger B, Synofzik M. Bonifert T, et al. Among authors: zuchner s. Brain. 2014 Aug;137(Pt 8):2164-77. doi: 10.1093/brain/awu165. Epub 2014 Jun 25. Brain. 2014. PMID: 24970096 Free PMC article.

10

Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathy.

Liu YT, Laurá M, Hersheson J, Horga A, Jaunmuktane Z, Brandner S, Pittman A, Hughes D, Polke JM, Sweeney MG, Proukakis C, Janssen JC, Auer-Grumbach M, Zuchner S, Shields KG, Reilly MM, Houlden H. Liu YT, et al. Among authors: zuchner s. Neurology. 2014 Aug 12;83(7):612-9. doi: 10.1212/WNL.0000000000000691. Epub 2014 Jul 9. Neurology. 2014. PMID: 25008398 Free PMC article.

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