Synofzik M - Search Results

1

Non-GAA Repeat Expansions in FGF14 Are Likely Not Pathogenic-Reply to: "Shaking Up Ataxia: FGF14 and RFC1 Repeat Expansions in Affected and Unaffected Members of a Chilean Family".

Pellerin D, Iruzubieta P, Tekgül Ş, Danzi MC, Ashton C, Dicaire MJ, Wandzel M, Roth V, Lamont PJ, Bonnet C, Renaud M, Synofzik M, Zuchner S, Brais B, Başak NA, Houlden H. Pellerin D, et al. Among authors: synofzik m. Mov Disord. 2023 Aug;38(8):1575-1577. doi: 10.1002/mds.29552. Mov Disord. 2023. PMID: 37565404 No abstract available.

2

POLG, but not PEO1, is a frequent cause of cerebellar ataxia in Central Europe.

Schicks J, Synofzik M, Schulte C, Schöls L. Schicks J, et al. Among authors: synofzik m. Mov Disord. 2010 Nov 15;25(15):2678-82. doi: 10.1002/mds.23286. Mov Disord. 2010. PMID: 20803511

3

Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism.

Daoud H, Tétreault M, Gibson W, Guerrero K, Cohen A, Gburek-Augustat J, Synofzik M, Brais B, Stevens CA, Sanchez-Carpintero R, Goizet C, Naidu S, Vanderver A, Bernard G. Daoud H, et al. Among authors: synofzik m. J Med Genet. 2013 Mar;50(3):194-7. doi: 10.1136/jmedgenet-2012-101357. Epub 2013 Jan 25. J Med Genet. 2013. PMID: 23355746

4

Leukodystrophies in idiopathic adult-onset ataxia: frequency and phenotype in 105 patients.

Müller Vom Hagen J, Synofzik M, Schicks J, Krägeloh-Mann I, Schöls L. Müller Vom Hagen J, et al. Among authors: synofzik m. Mov Disord. 2013 Dec;28(14):2033-5. doi: 10.1002/mds.25617. Epub 2013 Aug 7. Mov Disord. 2013. PMID: 23926051 No abstract available.

5

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. Brain. 2014 Jan;137(Pt 1):69-77. doi: 10.1093/brain/awt326. Epub 2013 Dec 19. Brain. 2014. PMID: 24355708 Free PMC article.

6

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. 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.

7

Abnormal Paraplegin Expression in Swollen Neurites, τ- and α-Synuclein Pathology in a Case of Hereditary Spastic Paraplegia SPG7 with an Ala510Val Mutation.

Thal DR, Züchner S, Gierer S, Schulte C, Schöls L, Schüle R, Synofzik M. Thal DR, et al. Among authors: synofzik m. Int J Mol Sci. 2015 Oct 21;16(10):25050-66. doi: 10.3390/ijms161025050. Int J Mol Sci. 2015. PMID: 26506339 Free PMC article.

8

Individual changes in preclinical spinocerebellar ataxia identified via increased motor complexity.

Ilg W, Fleszar Z, Schatton C, Hengel H, Harmuth F, Bauer P, Timmann D, Giese M, Schöls L, Synofzik M. Ilg W, et al. Among authors: synofzik m. Mov Disord. 2016 Dec;31(12):1891-1900. doi: 10.1002/mds.26835. Epub 2016 Oct 26. Mov Disord. 2016. PMID: 27782309

9

STUB1/CHIP mutations cause Gordon Holmes syndrome as part of a widespread multisystemic neurodegeneration: evidence from four novel mutations.

Hayer SN, Deconinck T, Bender B, Smets K, Züchner S, Reich S, Schöls L, Schüle R, De Jonghe P, Baets J, Synofzik M. Hayer SN, et al. Among authors: synofzik m. Orphanet J Rare Dis. 2017 Feb 13;12(1):31. doi: 10.1186/s13023-017-0580-x. Orphanet J Rare Dis. 2017. PMID: 28193273 Free PMC article.

10

Uniparental disomy determined by whole-exome sequencing in a spectrum of rare motoneuron diseases and ataxias.

Bis DM, Schüle R, Reichbauer J, Synofzik M, Rattay TW, Soehn A, de Jonghe P, Schöls L, Züchner S. Bis DM, et al. Among authors: synofzik m. Mol Genet Genomic Med. 2017 Apr 5;5(3):280-286. doi: 10.1002/mgg3.285. eCollection 2017 May. Mol Genet Genomic Med. 2017. PMID: 28546998 Free PMC article.

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