Schöls L - Search Results

1

Solving unsolved rare neurological diseases-a Solve-RD viewpoint.

Schüle R, Timmann D, Erasmus CE, Reichbauer J, Wayand M; Solve-RD-DITF-RND; van de Warrenburg B, Schöls L, Wilke C, Bevot A, Zuchner S, Beltran S, Laurie S, Matalonga L, Graessner H, Synofzik M; Solve-RD Consortium. Schüle R, et al. Among authors: schols l. Eur J Hum Genet. 2021 Sep;29(9):1332-1336. doi: 10.1038/s41431-021-00901-1. Epub 2021 May 10. Eur J Hum Genet. 2021. PMID: 33972714 Free PMC article. No abstract available.

2

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

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

3

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: schols l. 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

4

Spectrin mutations in spinocerebellar ataxia (SCA).

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

5

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: schols l. 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

6

Cerebrotendinous xanthomatosis.

Schöls L, Nägele T, Schüle R, Berg D. Schöls L, et al. Neurology. 2006 Dec 12;67(11):E20. doi: 10.1212/01.wnl.0000247673.08554.0f. Neurology. 2006. PMID: 17159091 No abstract available.

7

"Pseudodominant inheritance" of ataxia with ocular apraxia type 2 (AOA2).

Schöls L, Arning L, Schüle R, Epplen JT, Timmann D. Schöls L, et al. J Neurol. 2008 Apr;255(4):495-501. doi: 10.1007/s00415-008-0707-z. Epub 2008 Mar 20. J Neurol. 2008. PMID: 18350359

8

SCA3: neurological features, pathogenesis and animal models.

Riess O, Rüb U, Pastore A, Bauer P, Schöls L. Riess O, et al. Among authors: schols l. Cerebellum. 2008;7(2):125-37. doi: 10.1007/s12311-008-0013-4. Cerebellum. 2008. PMID: 18418689 Review.

9

Early symptoms in spinocerebellar ataxia type 1, 2, 3, and 6.

Globas C, du Montcel ST, Baliko L, Boesch S, Depondt C, DiDonato S, Durr A, Filla A, Klockgether T, Mariotti C, Melegh B, Rakowicz M, Ribai P, Rola R, Schmitz-Hubsch T, Szymanski S, Timmann D, Van de Warrenburg BP, Bauer P, Schols L. Globas C, et al. Among authors: schols l. Mov Disord. 2008 Nov 15;23(15):2232-8. doi: 10.1002/mds.22288. Mov Disord. 2008. PMID: 18759344

10

Identification of a heterozygous genomic deletion in the spatacsin gene in SPG11 patients using high-resolution comparative genomic hybridization.

Bauer P, Winner B, Schüle R, Bauer C, Häfele V, Hehr U, Bonin M, Walter M, Karle K, Ringer TM, Riess O, Winkler J, Schöls L. Bauer P, et al. Among authors: schols l. Neurogenetics. 2009 Feb;10(1):43-8. doi: 10.1007/s10048-008-0144-2. Epub 2008 Sep 12. Neurogenetics. 2009. PMID: 18787847

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