Synofzik M - Search Results

1

De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.

Syrbe S, Hedrich UBS, Riesch E, Djémié T, Müller S, Møller RS, Maher B, Hernandez-Hernandez L, Synofzik M, Caglayan HS, Arslan M, Serratosa JM, Nothnagel M, May P, Krause R, Löffler H, Detert K, Dorn T, Vogt H, Krämer G, Schöls L, Mullis PE, Linnankivi T, Lehesjoki AE, Sterbova K, Craiu DC, Hoffman-Zacharska D, Korff CM, Weber YG, Steinlin M, Gallati S, Bertsche A, Bernhard MK, Merkenschlager A, Kiess W; EuroEPINOMICS RES consortium; Gonzalez M, Züchner S, Palotie A, Suls A, De Jonghe P, Helbig I, Biskup S, Wolff M, Maljevic S, Schüle R, Sisodiya SM, Weckhuysen S, Lerche H, Lemke JR. Syrbe S, et al. Among authors: synofzik m. Nat Genet. 2015 Apr;47(4):393-399. doi: 10.1038/ng.3239. Epub 2015 Mar 9. Nat Genet. 2015. PMID: 25751627 Free PMC article.

2

Prion mutation D178N with highly variable disease onset and phenotype.

Synofzik M, Bauer P, Schöls L. Synofzik M, et al. J Neurol Neurosurg Psychiatry. 2009 Mar;80(3):345-6. doi: 10.1136/jnnp.2008.149922. J Neurol Neurosurg Psychiatry. 2009. PMID: 19228673

3

Ataxia with ophthalmoplegia or sensory neuropathy is frequently caused by POLG mutations.

Schulte C, Synofzik M, Gasser T, Schöls L. Schulte C, et al. Among authors: synofzik m. Neurology. 2009 Sep 15;73(11):898-900. doi: 10.1212/WNL.0b013e3181b78488. Neurology. 2009. PMID: 19752458 No abstract available.

4

Frequency and phenotype of SPG11 and SPG15 in complicated hereditary spastic paraplegia.

Schüle R, Schlipf N, Synofzik M, Klebe S, Klimpe S, Hehr U, Winner B, Lindig T, Dotzer A, Riess O, Winkler J, Schöls L, Bauer P. Schüle R, et al. Among authors: synofzik m. J Neurol Neurosurg Psychiatry. 2009 Dec;80(12):1402-4. doi: 10.1136/jnnp.2008.167528. J Neurol Neurosurg Psychiatry. 2009. PMID: 19917823

5

The human G93A SOD1 phenotype closely resembles sporadic amyotrophic lateral sclerosis.

Synofzik M, Fernández-Santiago R, Maetzler W, Schöls L, Andersen PM. Synofzik M, et al. J Neurol Neurosurg Psychiatry. 2010 Jul;81(7):764-7. doi: 10.1136/jnnp.2009.181719. Epub 2010 Feb 22. J Neurol Neurosurg Psychiatry. 2010. PMID: 20176600

6

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: synofzik m. 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

7

Long-term effects of coordinative training in degenerative cerebellar disease.

Ilg W, Brötz D, Burkard S, Giese MA, Schöls L, Synofzik M. Ilg W, et al. Among authors: synofzik m. Mov Disord. 2010 Oct 15;25(13):2239-46. doi: 10.1002/mds.23222. Mov Disord. 2010. PMID: 20737551 Clinical Trial.

8

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

9

Complex hyperkinetic movement disorders associated with POLG mutations.

Synofzik M, Schüle R, Schulte C, Krüger R, Lindig T, Schöls L, Asmus F. Synofzik M, et al. Mov Disord. 2010 Oct 30;25(14):2472-5. doi: 10.1002/mds.23307. Mov Disord. 2010. PMID: 20818669 No abstract available.

10

Restless legs and substantia nigra hypoechogenicity are common features in Friedreich's ataxia.

Synofzik M, Godau J, Lindig T, Schöls L, Berg D. Synofzik M, et al. Cerebellum. 2011 Mar;10(1):9-13. doi: 10.1007/s12311-010-0215-4. Cerebellum. 2011. PMID: 20865356

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