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Year Number of Results
1999 1
2003 1
2005 1
2006 3
2007 2
2008 3
2009 3
2010 6
2011 9
2012 5
2013 3
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2015 7
2016 5
2017 8
2018 1
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2020 1
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2023 3
2024 2

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62 results

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Page 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, 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: blahak c. Genet Med. 2022 Oct;24(10):2079-2090. doi: 10.1016/j.gim.2022.07.006. Epub 2022 Aug 20. Genet Med. 2022. PMID: 35986737 Free article.
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: blahak c. 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.
Pedunculopontine nucleus deep brain stimulation in Parkinson's disease: A clinical review.
Thevathasan W, Debu B, Aziz T, Bloem BR, Blahak C, Butson C, Czernecki V, Foltynie T, Fraix V, Grabli D, Joint C, Lozano AM, Okun MS, Ostrem J, Pavese N, Schrader C, Tai CH, Krauss JK, Moro E; Movement Disorders Society PPN DBS Working Groupin collaboration with the World Society for Stereotactic and Functional Neurosurgery. Thevathasan W, et al. Among authors: blahak c. Mov Disord. 2018 Jan;33(1):10-20. doi: 10.1002/mds.27098. Epub 2017 Sep 28. Mov Disord. 2018. PMID: 28960543 Review.
Joseph Haydn's encephalopathy: new aspects.
Blahak C, Bäzner H, Hennerici MG. Blahak C, et al. Prog Brain Res. 2015;216:317-29. doi: 10.1016/bs.pbr.2014.11.013. Epub 2015 Jan 20. Prog Brain Res. 2015. PMID: 25684297
Chorea in a patient with cryopyrin-associated periodic syndrome.
Schwarzbach CJ, Schmitt WH, Szabo K, Bäzner H, Hennerici MG, Blahak C. Schwarzbach CJ, et al. Among authors: blahak c. Neurology. 2016 Jan 19;86(3):241-4. doi: 10.1212/WNL.0000000000002300. Epub 2015 Dec 18. Neurology. 2016. PMID: 26683645
62 results