Synofzik M - Search Results

1

A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia.

Helbig KL, Hedrich UB, Shinde DN, Krey I, Teichmann AC, Hentschel J, Schubert J, Chamberlin AC, Huether R, Lu HM, Alcaraz WA, Tang S, Jungbluth C, Dugan SL, Vainionpää L, Karle KN, Synofzik M, Schöls L, Schüle R, Lehesjoki AE, Helbig I, Lerche H, Lemke JR. Helbig KL, et al. Among authors: synofzik m. Ann Neurol. 2016 Oct;80(4):638-42. doi: 10.1002/ana.24762. Epub 2016 Sep 9. Ann Neurol. 2016. PMID: 27543892 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

Intensive coordinative training improves motor performance in degenerative cerebellar disease.

Ilg W, Synofzik M, Brötz D, Burkard S, Giese MA, Schöls L. Ilg W, et al. Among authors: synofzik m. Neurology. 2009 Dec 1;73(22):1823-30. doi: 10.1212/WNL.0b013e3181c33adf. Epub 2009 Oct 28. Neurology. 2009. PMID: 19864636 Clinical Trial.

5

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

6

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

7

Severe orthostatic dysregulation associated with Wolfram syndrome.

Synofzik M, Weiss D, Erharhaghen J, Krüger R, Schöls L. Synofzik M, et al. J Neurol. 2010 Oct;257(10):1751-3. doi: 10.1007/s00415-010-5593-5. Epub 2010 May 19. J Neurol. 2010. PMID: 20490821 No abstract available.

8

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

9

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.

10

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

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