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Items: 1 to 20 of 89

1.

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

Friedman J, Hyland K, Blau N, MacCollin M.

Neurology. 2006 Dec 12;67(11):2032-5.

PMID:
17159114
2.

Sepiapterin reductase deficiency: a congenital dopa-responsive motor and cognitive disorder.

Neville BG, Parascandalo R, Farrugia R, Felice A.

Brain. 2005 Oct;128(Pt 10):2291-6. Epub 2005 Jul 27.

PMID:
16049044
3.

Sleep and rhythm consequences of a genetically induced loss of serotonin.

Leu-Semenescu S, Arnulf I, Decaix C, Moussa F, Clot F, Boniol C, Touitou Y, Levy R, Vidailhet M, Roze E.

Sleep. 2010 Mar;33(3):307-14.

4.

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.

Ann Neurol. 2012 Apr;71(4):520-30. doi: 10.1002/ana.22685.

PMID:
22522443
5.

Sepiapterin reductase deficiency an autosomal recessive DOPA-responsive dystonia.

Abeling NG, Duran M, Bakker HD, Stroomer L, Thöny B, Blau N, Booij J, Poll-The BT.

Mol Genet Metab. 2006 Sep-Oct;89(1-2):116-20. Epub 2006 May 2.

PMID:
16650784
6.

Clinical and genetic studies in a family with a novel mutation in the sepiapterin reductase gene.

Koht J, Rengmark A, Opladen T, Bjørnarå KA, Selberg T, Tallaksen CM, Blau N, Toft M.

Acta Neurol Scand Suppl. 2014;(198):7-12. doi: 10.1111/ane.12230.

PMID:
24588500
7.

Child neurology: paroxysmal stiffening, upward gaze, and hypotonia: hallmarks of sepiapterin reductase deficiency.

Dill P, Wagner M, Somerville A, Thöny B, Blau N, Weber P.

Neurology. 2012 Jan 31;78(5):e29-32. doi: 10.1212/WNL.0b013e3182452849. No abstract available.

PMID:
22291068
8.

Sepiapterin reductase deficiency: clinical presentation and evaluation of long-term therapy.

Echenne B, Roubertie A, Assmann B, Lutz T, Penzien JM, Thöny B, Blau N, Hoffmann GF.

Pediatr Neurol. 2006 Nov;35(5):308-13.

PMID:
17074599
9.

Molecular genetics of tetrahydrobiopterin (BH4) deficiency in the Maltese population.

Farrugia R, Scerri CA, Montalto SA, Parascandolo R, Neville BG, Felice AE.

Mol Genet Metab. 2007 Mar;90(3):277-83. Epub 2006 Dec 22.

PMID:
17188538
10.

Dopamine agonists in 6-pyruvoyl tetrahydropterin synthase deficiency.

Porta F, Mussa A, Concolino D, Spada M, Ponzone A.

Neurology. 2009 Aug 25;73(8):633-7. doi: 10.1212/WNL.0b013e3181b38983.

PMID:
19704083
11.

Sepiapterin reductase deficiency: two Indian siblings with unusual clinical features.

Wali GM, Thony B, Blau N.

Mov Disord. 2010 May 15;25(7):954-5. doi: 10.1002/mds.23032. No abstract available.

PMID:
20222129
12.
13.

A homozygous frameshift mutation of sepiapterin reductase gene causing parkinsonism with onset in childhood.

Lohmann E, Köroğlu Ç, Hanagasi HA, Dursun B, Taşan E, Tolun A.

Parkinsonism Relat Disord. 2012 Feb;18(2):191-3. doi: 10.1016/j.parkreldis.2011.10.001. Epub 2011 Oct 21.

PMID:
22018912
14.

[Dopa-responsive dystonia (Segawa syndrome) with secondary skeleton deformity].

Budrewicz SP, Góral M, Koszewicz M, Tarantowicz P, Podemski R.

Wiad Lek. 2006;59(9-10):713-5. Polish.

PMID:
17338136
15.

Genotype-phenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for a new phenotypic variant.

Arrabal L, Teresa L, Sánchez-Alcudia R, Castro M, Medrano C, Gutiérrez-Solana L, Roldán S, Ormazábal A, Pérez-Cerdá C, Merinero B, Pérez B, Artuch R, Ugarte M, Desviat LR.

Neurogenetics. 2011 Aug;12(3):183-91. doi: 10.1007/s10048-011-0279-4. Epub 2011 Mar 24.

PMID:
21431957
16.

Managing Parkinson's disease with continuous dopaminergic stimulation.

Wolters E, Lees AJ, Volkmann J, van Laar T, Hovestadt A.

CNS Spectr. 2008 Apr;13(4 Suppl 7):1-14; quiz 15-6.

PMID:
18408654
17.

Sepiapterin reductase deficiency in a 2-year-old girl with incomplete response to treatment during short-term follow-up.

Kusmierska K, Jansen EE, Jakobs C, Szymanska K, Malunowicz E, Meilei D, Thony B, Blau N, Tryfon J, Rokicki D, Pronicka E, Sykut-Cegielska J.

J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S5-10. doi: 10.1007/s10545-008-1009-4. Epub 2009 Jan 7.

PMID:
19130291
18.

[Complex encephalopathy in 2 brothers: its course under L-dopa].

Thomas C, Rondot P, Ribadeau-Dumas JL, Raiser E.

Rev Otoneuroophtalmol. 1976 May-Jun;48(3):155-9. French. No abstract available.

PMID:
973074
19.

Guanidinoacetate methyltransferase (GAMT) deficiency: late onset of movement disorder and preserved expressive language.

O'Rourke DJ, Ryan S, Salomons G, Jakobs C, Monavari A, King MD.

Dev Med Child Neurol. 2009 May;51(5):404-7.

PMID:
19388150
20.

Anaesthesia for caesarean section in a patient with dopa-responsive dystonia or Segawa's syndrome.

Sinha A, Hartsilver EL.

Int J Obstet Anesth. 2009 Jan;18(1):67-72. doi: 10.1016/j.ijoa.2008.07.003. Epub 2008 Nov 20.

PMID:
19022657

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