Bauer P - Search Results

1

Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum.

Synofzik M, Soehn AS, Gburek-Augustat J, Schicks J, Karle KN, Schüle R, Haack TB, Schöning M, Biskup S, Rudnik-Schöneborn S, Senderek J, Hoffmann KT, MacLeod P, Schwarz J, Bender B, Krüger S, Kreuz F, Bauer P, Schöls L. Synofzik M, et al. Among authors: bauer p. Orphanet J Rare Dis. 2013 Mar 15;8:41. doi: 10.1186/1750-1172-8-41. Orphanet J Rare Dis. 2013. PMID: 23497566 Free PMC article.

2

Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17).

Rolfs A, Koeppen AH, Bauer I, Bauer P, Buhlmann S, Topka H, Schöls L, Riess O. Rolfs A, et al. Among authors: bauer i, bauer p. Ann Neurol. 2003 Sep;54(3):367-75. doi: 10.1002/ana.10676. Ann Neurol. 2003. PMID: 12953269

3

Frequency and phenotypic variability of the GAG deletion of the DYT1 gene in an unselected group of patients with dystonia.

Grundmann K, Laubis-Herrmann U, Bauer I, Dressler D, Vollmer-Haase J, Bauer P, Stuhrmann M, Schulte T, Schöls L, Topka H, Riess O. Grundmann K, et al. Among authors: bauer i, bauer p. Arch Neurol. 2003 Sep;60(9):1266-70. doi: 10.1001/archneur.60.9.1266. Arch Neurol. 2003. PMID: 12975293

4

Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis.

Schöls L, Bauer P, Schmidt T, Schulte T, Riess O. Schöls L, et al. Among authors: bauer p. Lancet Neurol. 2004 May;3(5):291-304. doi: 10.1016/S1474-4422(04)00737-9. Lancet Neurol. 2004. PMID: 15099544 Review.

5

Mutation at the SCA17 locus is not a common cause of primary dystonia.

Grundmann K, Laubis-Herrmann U, Dressler D, Vollmer-Haase J, Bauer P, Stuhrmann M, Schulte T, Schöls L, Topka H, Riess O. Grundmann K, et al. Among authors: bauer p. J Neurol. 2004 Oct;251(10):1232-4. doi: 10.1007/s00415-004-0520-2. J Neurol. 2004. PMID: 15503103

6

New mutations in protein kinase Cgamma associated with spinocerebellar ataxia type 14.

Klebe S, Durr A, Rentschler A, Hahn-Barma V, Abele M, Bouslam N, Schöls L, Jedynak P, Forlani S, Denis E, Dussert C, Agid Y, Bauer P, Globas C, Wüllner U, Brice A, Riess O, Stevanin G. Klebe S, et al. Among authors: bauer p. Ann Neurol. 2005 Nov;58(5):720-9. doi: 10.1002/ana.20628. Ann Neurol. 2005. PMID: 16193476

7

CAG repeats in Restless Legs syndrome.

Konieczny M, Bauer P, Tomiuk J, Weisser G, Haan J, Berger K, Riess O, Schöls L. Konieczny M, et al. Among authors: bauer p. Am J Med Genet B Neuropsychiatr Genet. 2006 Mar 5;141B(2):173-6. doi: 10.1002/ajmg.b.30265. Am J Med Genet B Neuropsychiatr Genet. 2006. PMID: 16389595

8

Mutations in TITF1 are not relevant to sporadic and familial chorea of unknown cause.

Bauer P, Kreuz FR, Bürk K, Saft C, Andrich J, Heilemann H, Riess O, Schöls L. Bauer P, et al. Mov Disord. 2006 Oct;21(10):1734-7. doi: 10.1002/mds.21031. Mov Disord. 2006. PMID: 16830318

9

Spectrin mutations in spinocerebellar ataxia (SCA).

Bauer P, Schöls L, Riess O. Bauer P, et al. Bioessays. 2006 Aug;28(8):785-7. doi: 10.1002/bies.20443. Bioessays. 2006. PMID: 16927298 Review.

10

Repeat expansion in spinocerebellar ataxia type 17 alleles of the TATA-box binding protein gene: an evolutionary approach.

Tomiuk J, Bachmann L, Bauer C, Rolfs A, Schöls L, Roos C, Zischler H, Schuler MM, Bruntner S, Riess O, Bauer P. Tomiuk J, et al. Among authors: bauer p, bauer c. Eur J Hum Genet. 2007 Jan;15(1):81-7. doi: 10.1038/sj.ejhg.5201721. Epub 2006 Oct 11. Eur J Hum Genet. 2007. PMID: 17033685

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