Blau N - Search Results

1

DNAJC12 and dopa-responsive nonprogressive parkinsonism.

Straniero L, Guella I, Cilia R, Parkkinen L, Rimoldi V, Young A, Asselta R, Soldà G, Sossi V, Stoessl AJ, Priori A, Nishioka K, Hattori N, Follett J, Rajput A, Blau N, Pezzoli G, Farrer MJ, Goldwurm S, Rajput AH, Duga S. Straniero L, et al. Among authors: blau n. Ann Neurol. 2017 Oct;82(4):640-646. doi: 10.1002/ana.25048. Epub 2017 Oct 11. Ann Neurol. 2017. PMID: 28892570

2

DNAJC12 deficiency: A new strategy in the diagnosis of hyperphenylalaninemias.

Blau N, Martinez A, Hoffmann GF, Thöny B. Blau N, et al. Mol Genet Metab. 2018 Jan;123(1):1-5. doi: 10.1016/j.ymgme.2017.11.005. Epub 2017 Nov 20. Mol Genet Metab. 2018. PMID: 29174366 Review.

3

Neonatal dopa-responsive extrapyramidal syndrome in twins with recessive GTPCH deficiency.

Nardocci N, Zorzi G, Blau N, Fernandez Alvarez E, Sesta M, Angelini L, Pannacci M, Invernizzi F, Garavaglia B. Nardocci N, et al. Among authors: blau n. Neurology. 2003 Jan 28;60(2):335-7. doi: 10.1212/01.wnl.0000044049.99690.ad. Neurology. 2003. PMID: 12552057

4

Long-term course of L-dopa-responsive dystonia caused by tyrosine hydroxylase deficiency.

Schiller A, Wevers RA, Steenbergen GC, Blau N, Jung HH. Schiller A, et al. Among authors: blau n. Neurology. 2004 Oct 26;63(8):1524-6. doi: 10.1212/01.wnl.0000142083.47927.0a. Neurology. 2004. PMID: 15505183

5

Sepiapterin reductase deficiency: a treatable mimic of cerebral palsy.

Friedman J, Roze E, Abdenur JE, Chang R, Gasperini S, Saletti V, Wali GM, Eiroa H, Neville B, Felice A, Parascandalo R, Zafeiriou DI, Arrabal-Fernandez L, Dill P, Eichler FS, Echenne B, Gutierrez-Solana LG, Hoffmann GF, Hyland K, Kusmierska K, Tijssen MA, Lutz T, Mazzuca M, Penzien J, Poll-The BT, Sykut-Cegielska J, Szymanska K, Thöny B, Blau N. Friedman J, et al. Among authors: blau n. Ann Neurol. 2012 Apr;71(4):520-30. doi: 10.1002/ana.22685. Ann Neurol. 2012. PMID: 22522443

6

6-pyruvoyl-tetrahydropterin synthase deficiency with mild hyperphenylalaninemia.

Demos MK, Waters PJ, Vallance HD, Lillquist Y, Makhseed N, Hyland K, Blau N, Connolly MB. Demos MK, et al. Among authors: blau n. Ann Neurol. 2005 Jul;58(1):164-7. doi: 10.1002/ana.20532. Ann Neurol. 2005. PMID: 15984017

7

Dopa-responsive hypersomnia and mixed movement disorder due to sepiapterin reductase deficiency.

Friedman J, Hyland K, Blau N, MacCollin M. Friedman J, et al. Among authors: blau n. Neurology. 2006 Dec 12;67(11):2032-5. doi: 10.1212/01.wnl.0000247274.21261.b4. Neurology. 2006. PMID: 17159114

8

Phenylalanine hydroxylase variants interact with the co-chaperone DNAJC12.

Jung-Kc K, Himmelreich N, Prestegård KS, Shi TS, Scherer T, Ying M, Jorge-Finnigan A, Thöny B, Blau N, Martinez A. Jung-Kc K, et al. Among authors: blau n. Hum Mutat. 2019 Apr;40(4):483-494. doi: 10.1002/humu.23712. Epub 2019 Feb 6. Hum Mutat. 2019. PMID: 30667134

9

Mutations in the cyclic adenosine monophosphate response element of the tyrosine hydroxylase gene.

Verbeek MM, Steenbergen-Spanjers GC, Willemsen MA, Hol FA, Smeitink J, Seeger J, Grattan-Smith P, Ryan MM, Hoffmann GF, Donati MA, Blau N, Wevers RA. Verbeek MM, et al. Among authors: blau n. Ann Neurol. 2007 Oct;62(4):422-6. doi: 10.1002/ana.21199. Ann Neurol. 2007. PMID: 17696123

10

Pitfalls in phenylalanine loading test in the diagnosis of dopa-responsive dystonia.

Opladen T, Hoffmann GF, Kühn AA, Blau N. Opladen T, et al. Among authors: blau n. Mol Genet Metab. 2013 Mar;108(3):195-7. doi: 10.1016/j.ymgme.2013.01.001. Epub 2013 Jan 12. Mol Genet Metab. 2013. PMID: 23375473

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