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Items: 1 to 20 of 115

1.

Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patients.

van Vliet K, van Ginkel WG, Jahja R, Daly A, MacDonald A, De Laet C, Vara R, Rahman Y, Cassiman D, Eyskens F, Timmer C, Mumford N, Bierau J, van Hasselt PM, Gissen P, Goyens PJ, McKiernan PJ, Wilcox G, Morris AAM, Jameson EA, Huijbregts SCJ, van Spronsen FJ.

Orphanet J Rare Dis. 2019 Dec 4;14(1):285. doi: 10.1186/s13023-019-1259-2.

2.

Urea Cycle Related Amino Acids Measured in Dried Bloodspots Enable Long-Term In Vivo Monitoring and Therapeutic Adjustment.

Baruteau J, Khalil Y, Grunewald S, Zancolli M, Chakrapani A, Cleary M, Davison J, Footitt E, Waddington SN, Gissen P, Mills P.

Metabolites. 2019 Nov 12;9(11). pii: E275. doi: 10.3390/metabo9110275.

3.

Free urinary glycosylated hydroxylysine as an indicator of altered collagen degradation in the mucopolysaccharidoses.

Patel N, Mills P, Davison J, Cleary M, Gissen P, Banushi B, Doykov I, Dorman M, Mills K, Heywood WE.

J Inherit Metab Dis. 2019 Aug 26. doi: 10.1002/jimd.12166. [Epub ahead of print]

PMID:
31452203
4.

High-Content Analysis of Mitochondrial Function in iPSC-Derived Neurons.

Little D, Luft C, Mosaku O, Ketteler R, Devine MJ, Gissen P.

Methods Mol Biol. 2019;1994:175-184. doi: 10.1007/978-1-4939-9477-9_16.

PMID:
31124115
5.

High-Content Autophagy Analysis in iPSC-Derived Neurons Using Immunofluorescence.

Little D, Luft C, Mosaku O, Ketteler R, Devine MJ, Gissen P.

Methods Mol Biol. 2019;1994:165-174. doi: 10.1007/978-1-4939-9477-9_15.

PMID:
31124114
6.

Seeding Induced Pluripotent Stem Cell-Derived Neurons onto 384-Well Plates.

Little D, Luft C, Pezzini-Picart O, Mosaku O, Ketteler R, Devine MJ, Gissen P.

Methods Mol Biol. 2019;1994:159-164. doi: 10.1007/978-1-4939-9477-9_14.

PMID:
31124113
7.

Mass Spectrometry Measurement of Albumin-Alpha Fetoprotein Ratio as an Indicator of iPSC-Derived Hepatocyte Differentiation.

Mazzacuva F, Lorvellec M, Cilibrizzi A, Mills K, Heywood WE, Clayton P, Gissen P.

Methods Mol Biol. 2019;1994:149-156. doi: 10.1007/978-1-4939-9477-9_13.

PMID:
31124112
8.

Measurement of Bile Acids as a Marker of the Functionality of iPSC-Derived Hepatocytes.

Mazzacuva F, Lorvellec M, Cilibrizzi A, Mills K, Clayton P, Gissen P.

Methods Mol Biol. 2019;1994:141-147. doi: 10.1007/978-1-4939-9477-9_12.

PMID:
31124111
9.

Preparation of iPSCs for Targeted Proteomic Analysis.

Baud A, Heywood WE, Little D, Gissen P, Mills K.

Methods Mol Biol. 2019;1994:131-139. doi: 10.1007/978-1-4939-9477-9_11.

PMID:
31124110
10.

Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.

Gorman KM, Meyer E, Grozeva D, Spinelli E, McTague A, Sanchis-Juan A, Carss KJ, Bryant E, Reich A, Schneider AL, Pressler RM, Simpson MA, Debelle GD, Wassmer E, Morton J, Sieciechowicz D, Jan-Kamsteeg E, Paciorkowski AR, King MD, Cross JH, Poduri A, Mefford HC, Scheffer IE, Haack TB, McCullagh G; Deciphering Developmental Disorders Study; UK10K Consortium; NIHR BioResource, Millichap JJ, Carvill GL, Clayton-Smith J, Maher ER, Raymond FL, Kurian MA.

Am J Hum Genet. 2019 May 2;104(5):948-956. doi: 10.1016/j.ajhg.2019.03.005. Epub 2019 Apr 11.

11.

Using stem cell-derived neurons in drug screening for neurological diseases.

Little D, Ketteler R, Gissen P, Devine MJ.

Neurobiol Aging. 2019 Jun;78:130-141. doi: 10.1016/j.neurobiolaging.2019.02.008. Epub 2019 Feb 20. Review.

PMID:
30925301
12.

Phase I/II Trial of Liver-derived Mesenchymal Stem Cells in Pediatric Liver-based Metabolic Disorders: A Prospective, Open Label, Multicenter, Partially Randomized, Safety Study of One Cycle of Heterologous Human Adult Liver-derived Progenitor Cells (HepaStem) in Urea Cycle Disorders and Crigler-Najjar Syndrome Patients.

Smets F, Dobbelaere D, McKiernan P, Dionisi-Vici C, Broué P, Jacquemin E, Lopes AI, Gonçalves I, Mandel H, Pawlowska J, Kamińska D, Shteyer E, Torre G, Shapiro R, Eyskens F, Clapuyt P, Gissen P, Pariente D, Grunewald S, Yudkoff M, Binda MM, Najimi M, Belmonte N, de Vos B, Thonnard J, Sokal E.

Transplantation. 2019 Sep;103(9):1903-1915. doi: 10.1097/TP.0000000000002605.

PMID:
30801523
13.

Argininosuccinic aciduria: Recent pathophysiological insights and therapeutic prospects.

Baruteau J, Diez-Fernandez C, Lerner S, Ranucci G, Gissen P, Dionisi-Vici C, Nagamani S, Erez A, Häberle J.

J Inherit Metab Dis. 2019 Nov;42(6):1147-1161. doi: 10.1002/jimd.12047. Epub 2019 Feb 5.

PMID:
30723942
14.
15.

Surveillance for variant CJD: should more children with neurodegenerative diseases have autopsies?

Verity C, Winstone AM, Will R, Powell A, Baxter P, de Sousa C, Gissen P, Kurian M, Livingston J, McFarland R, Pal S, Pike M, Robinson R, Wassmer E, Zuberi S.

Arch Dis Child. 2019 Apr;104(4):360-365. doi: 10.1136/archdischild-2018-315458. Epub 2018 Oct 18.

16.

Reproducibility of Molecular Phenotypes after Long-Term Differentiation to Human iPSC-Derived Neurons: A Multi-Site Omics Study.

Volpato V, Smith J, Sandor C, Ried JS, Baud A, Handel A, Newey SE, Wessely F, Attar M, Whiteley E, Chintawar S, Verheyen A, Barta T, Lako M, Armstrong L, Muschet C, Artati A, Cusulin C, Christensen K, Patsch C, Sharma E, Nicod J, Brownjohn P, Stubbs V, Heywood WE, Gissen P, De Filippis R, Janssen K, Reinhardt P, Adamski J, Royaux I, Peeters PJ, Terstappen GC, Graf M, Livesey FJ, Akerman CJ, Mills K, Bowden R, Nicholson G, Webber C, Cader MZ, Lakics V.

Stem Cell Reports. 2018 Oct 9;11(4):897-911. doi: 10.1016/j.stemcr.2018.08.013. Epub 2018 Sep 20.

17.

Author Correction: Molecular architecture of the multifunctional collagen lysyl hydroxylase and glycosyltransferase LH3.

Scietti L, Chiapparino A, De Giorgi F, Fumagalli M, Khoriauli L, Nergadze S, Basu S, Olieric V, Cucca L, Banushi B, Profumo A, Giulotto E, Gissen P, Forneris F.

Nat Commun. 2018 Sep 20;9(1):3912. doi: 10.1038/s41467-018-06481-x.

18.

Correction: The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations.

Hikmat O, Tzoulis C, Chong WK, Chentouf L, Klingenberg C, Fratter C, Carr LJ, Prabhakar P, Kumaraguru N, Gissen P, Cross JH, Jacques TS, Taanman JW, Bindoff LA, Rahman S.

Genet Med. 2019 Apr;21(4):1027. doi: 10.1038/s41436-018-0098-1.

PMID:
30228318
19.

Publisher Correction: Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data.

Farmery JHR, Smith ML; NIHR BioResource - Rare Diseases, Lynch AG.

Sci Rep. 2018 Sep 3;8(1):13376. doi: 10.1038/s41598-018-31524-0.

20.

Argininosuccinic aciduria fosters neuronal nitrosative stress reversed by Asl gene transfer.

Baruteau J, Perocheau DP, Hanley J, Lorvellec M, Rocha-Ferreira E, Karda R, Ng J, Suff N, Diaz JA, Rahim AA, Hughes MP, Banushi B, Prunty H, Hristova M, Ridout DA, Virasami A, Heales S, Howe SJ, Buckley SMK, Mills PB, Gissen P, Waddington SN.

Nat Commun. 2018 Aug 29;9(1):3505. doi: 10.1038/s41467-018-05972-1.

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