Riess O - Search Results

1

Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.

Park J, Tucci A, Cipriani V, Demidov G, Rocca C, Senderek J, Butryn M, Velic A, Lam T, Galanaki E, Cali E, Vestito L, Maroofian R, Deininger N, Rautenberg M, Admard J, Hahn GA, Bartels C, van Os NJH, Horvath R, Chinnery PF, Tiet MY, Hewamadduma C, Hadjivassiliou M, Downes SM, Németh AH, Tofaris GK; Genomics England Research Consortium; Wood NW, Hayer SN, Bender F, Menden B, Cordts I, Klein K, Nguyen HP, Krauss JK, Blahak C, Strom TM, Sturm M, van de Warrenburg B, Lerche H, Maček B, Synofzik M, Ossowski S, Timmann D, Wolf ME, Smedley D, Riess O, Schöls L, Houlden H, Haack TB, Hengel H. Park J, et al. Among authors: riess o. Genet Med. 2023 Oct;25(10):100961. doi: 10.1016/j.gim.2023.100961. Epub 2023 Aug 31. Genet Med. 2023. PMID: 37650884 No abstract available.

2

Protein surveillance machinery in brains with spinocerebellar ataxia type 3: redistribution and differential recruitment of 26S proteasome subunits and chaperones to neuronal intranuclear inclusions.

Schmidt T, Lindenberg KS, Krebs A, Schöls L, Laccone F, Herms J, Rechsteiner M, Riess O, Landwehrmeyer GB. Schmidt T, et al. Among authors: riess o. Ann Neurol. 2002 Mar;51(3):302-10. doi: 10.1002/ana.10101. Ann Neurol. 2002. PMID: 11891825

3

Neurofilament L gene is not a genetic factor of sporadic and familial Parkinson's disease.

Rahner N, Holzmann C, Krüger R, Schöls L, Berger K, Riess O. Rahner N, et al. Among authors: riess o. Brain Res. 2002 Sep 27;951(1):82-6. doi: 10.1016/s0006-8993(02)03138-4. Brain Res. 2002. PMID: 12231460

4

Do CTG expansions at the SCA8 locus cause ataxia?

Schöls L, Bauer I, Zühlke C, Schulte T, Kölmel C, Bürk K, Topka H, Bauer P, Przuntek H, Riess O. Schöls L, et al. Among authors: riess o. Ann Neurol. 2003 Jul;54(1):110-5. doi: 10.1002/ana.10608. Ann Neurol. 2003. PMID: 12838526

5

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: riess o. Ann Neurol. 2003 Sep;54(3):367-75. doi: 10.1002/ana.10676. Ann Neurol. 2003. PMID: 12953269

6

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: riess o. Lancet Neurol. 2004 May;3(5):291-304. doi: 10.1016/S1474-4422(04)00737-9. Lancet Neurol. 2004. PMID: 15099544 Review.

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: riess o. 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. Among authors: riess o. 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. Among authors: riess o. 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: riess o. 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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