Schöls L - Search Results

1

Identification and functional characterization of a novel R621C mutation in the synphilin-1 gene in Parkinson's disease.

Marx FP, Holzmann C, Strauss KM, Li L, Eberhardt O, Gerhardt E, Cookson MR, Hernandez D, Farrer MJ, Kachergus J, Engelender S, Ross CA, Berger K, Schöls L, Schulz JB, Riess O, Krüger R. Marx FP, et al. Among authors: schols l. Hum Mol Genet. 2003 Jun 1;12(11):1223-31. doi: 10.1093/hmg/ddg134. Hum Mol Genet. 2003. PMID: 12761037

2

Trinucleotide expansion within the MJD1 gene presents clinically as spinocerebellar ataxia and occurs most frequently in German SCA patients.

Schöls L, Vieira-Saecker AM, Schöls S, Przuntek H, Epplen JT, Riess O. Schöls L, et al. Among authors: schols s. Hum Mol Genet. 1995 Jun;4(6):1001-5. doi: 10.1093/hmg/4.6.1001. Hum Mol Genet. 1995. PMID: 7655453

3

Spinocerebellar ataxia type 1: Clinical and neurophysiological characteristics in German kindreds.

Schöls L, Riess O, Schöls S, Zeck S, Amoiridis G, Langkafel M, Epplen JT, Przuntek H. Schöls L, et al. Among authors: schols s. Acta Neurol Scand. 1995 Dec;92(6):478-85. doi: 10.1111/j.1600-0404.1995.tb00484.x. Acta Neurol Scand. 1995. PMID: 8750114

4

Relations between genotype and phenotype in German patients with the Machado-Joseph disease mutation.

Schöls L, Amoiridis G, Epplen JT, Langkafel M, Przuntek H, Riess O. Schöls L, et al. J Neurol Neurosurg Psychiatry. 1996 Nov;61(5):466-70. doi: 10.1136/jnnp.61.5.466. J Neurol Neurosurg Psychiatry. 1996. PMID: 8937340 Free PMC article.

5

Transmission distortion of the mutant alleles in spinocerebellar ataxia.

Riess O, Epplen JT, Amoiridis G, Przuntek H, Schöls L. Riess O, et al. Among authors: schols l. Hum Genet. 1997 Feb;99(2):282-4. doi: 10.1007/s004390050355. Hum Genet. 1997. PMID: 9048937

6

SCA6 is caused by moderate CAG expansion in the alpha1A-voltage-dependent calcium channel gene.

Riess O, Schöls L, Bottger H, Nolte D, Vieira-Saecker AM, Schimming C, Kreuz F, Macek M Jr, Krebsová A, Macek M Sen, Klockgether T, Zühlke C, Laccone FA. Riess O, et al. Among authors: schols l. Hum Mol Genet. 1997 Aug;6(8):1289-93. doi: 10.1093/hmg/6.8.1289. Hum Mol Genet. 1997. PMID: 9259275

7

Autosomal dominant cerebellar ataxia: phenotypic differences in genetically defined subtypes?

Schöls L, Amoiridis G, Büttner T, Przuntek H, Epplen JT, Riess O. Schöls L, et al. Ann Neurol. 1997 Dec;42(6):924-32. doi: 10.1002/ana.410420615. Ann Neurol. 1997. PMID: 9403486

8

Spinocerebellar ataxia type 6: genotype and phenotype in German kindreds.

Schöls L, Krüger R, Amoiridis G, Przuntek H, Epplen JT, Riess O. Schöls L, et al. J Neurol Neurosurg Psychiatry. 1998 Jan;64(1):67-73. doi: 10.1136/jnnp.64.1.67. J Neurol Neurosurg Psychiatry. 1998. PMID: 9436730 Free PMC article.

9

Ala30Pro mutation in the gene encoding alpha-synuclein in Parkinson's disease.

Krüger R, Kuhn W, Müller T, Woitalla D, Graeber M, Kösel S, Przuntek H, Epplen JT, Schöls L, Riess O. Krüger R, et al. Among authors: schols l. Nat Genet. 1998 Feb;18(2):106-8. doi: 10.1038/ng0298-106. Nat Genet. 1998. PMID: 9462735 No abstract available.

10

Sleep disturbance in spinocerebellar ataxias: is the SCA3 mutation a cause of restless legs syndrome?

Schöls L, Haan J, Riess O, Amoiridis G, Przuntek H. Schöls L, et al. Neurology. 1998 Dec;51(6):1603-7. doi: 10.1212/wnl.51.6.1603. Neurology. 1998. PMID: 9855509

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