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Items: 1 to 50 of 117

1.

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
2.

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
3.

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
4.

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
5.

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
6.

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
7.

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
8.

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, Vos B, Thonnard J, Sokal E.

Transplantation. 2019 Feb 18. doi: 10.1097/TP.0000000000002605. [Epub ahead of print]

PMID:
30801523
9.

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 Feb 5. doi: 10.1002/jimd.12047. [Epub ahead of print]

PMID:
30723942
10.
11.

Correction to: Spectrum of movement disorders and neurotransmitter abnormalities in paediatric POLG disease.

Papandreou A, Rahman S, Fratter C, Ng J, Meyer E, Carr LJ, Champion M, Clarke A, Gissen P, Hemingway C, Hussain N, Jayawant S, King MD, Lynch BJ, Mewasingh L, Patel J, Prabhakar P, Neergheen V, Pope S, Heales SJR, Poulton J, Kurian MA.

J Inherit Metab Dis. 2018 Nov;41(6):1299-1301. doi: 10.1007/s10545-018-0247-3.

PMID:
30456588
12.

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.

13.

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.

14.

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.

15.

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
16.

Spectrum of movement disorders and neurotransmitter abnormalities in paediatric POLG disease.

Papandreou A, Rahman S, Fratter C, Ng J, Meyer E, Carr LJ, Champion M, Clarke A, Gissen P, Hemingway C, Hussain N, Jayawant S, King MD, Lynch BJ, Mewasingh L, Patel J, Prabhakar P, Neergheen V, Pope S, Heales SJR, Poulton J, Kurian MA.

J Inherit Metab Dis. 2018 Nov;41(6):1275-1283. doi: 10.1007/s10545-018-0227-7. Epub 2018 Aug 30. Erratum in: J Inherit Metab Dis. 2018 Nov 19;:.

17.

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.

18.

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 Aug 8;9(1):3163. doi: 10.1038/s41467-018-05631-5. Erratum in: Nat Commun. 2018 Sep 20;9(1):3912.

19.

Age-Related Seroprevalence of Antibodies Against AAV-LK03 in a UK Population Cohort.

Perocheau DP, Cunningham S, Lee J, Antinao Diaz J, Waddington SN, Gilmour K, Eaglestone S, Lisowski L, Thrasher AJ, Alexander IE, Gissen P, Baruteau J.

Hum Gene Ther. 2019 Jan;30(1):79-87. doi: 10.1089/hum.2018.098. Epub 2018 Oct 19.

20.

Severe renal Fanconi and management strategies in Arthrogryposis-Renal dysfunction-Cholestasis syndrome: a case report.

Rosales A, Mhibik M, Gissen P, Segarra O, Redecillas S, Ariceta G.

BMC Nephrol. 2018 Jun 15;19(1):144. doi: 10.1186/s12882-018-0926-1.

21.

A single cell high content assay detects mitochondrial dysfunction in iPSC-derived neurons with mutations in SNCA.

Little D, Luft C, Mosaku O, Lorvellec M, Yao Z, Paillusson S, Kriston-Vizi J, Gandhi S, Abramov AY, Ketteler R, Devine MJ, Gissen P.

Sci Rep. 2018 Jun 13;8(1):9033. doi: 10.1038/s41598-018-27058-0.

22.

α-synuclein oligomers interact with ATP synthase and open the permeability transition pore in Parkinson's disease.

Ludtmann MHR, Angelova PR, Horrocks MH, Choi ML, Rodrigues M, Baev AY, Berezhnov AV, Yao Z, Little D, Banushi B, Al-Menhali AS, Ranasinghe RT, Whiten DR, Yapom R, Dolt KS, Devine MJ, Gissen P, Kunath T, Jaganjac M, Pavlov EV, Klenerman D, Abramov AY, Gandhi S.

Nat Commun. 2018 Jun 12;9(1):2293. doi: 10.1038/s41467-018-04422-2.

23.

Markers of cognitive function in individuals with metabolic disease: Morquio syndrome and tyrosinemia type III.

Blundell J, Frisson S, Chakrapani A, Kearney S, Vijay S, MacDonald A, Gissen P, Hendriksz C, Olson A.

Cogn Neuropsychol. 2018 May - Jun;35(3-4):120-147. doi: 10.1080/02643294.2018.1443913.

PMID:
29741470
24.

Study of Intraventricular Cerliponase Alfa for CLN2 Disease.

Schulz A, Ajayi T, Specchio N, de Los Reyes E, Gissen P, Ballon D, Dyke JP, Cahan H, Slasor P, Jacoby D, Kohlschütter A; CLN2 Study Group.

N Engl J Med. 2018 May 17;378(20):1898-1907. doi: 10.1056/NEJMoa1712649. Epub 2018 Apr 24.

25.

Consensus clinical management guidelines for Niemann-Pick disease type C.

Geberhiwot T, Moro A, Dardis A, Ramaswami U, Sirrs S, Marfa MP, Vanier MT, Walterfang M, Bolton S, Dawson C, Héron B, Stampfer M, Imrie J, Hendriksz C, Gissen P, Crushell E, Coll MJ, Nadjar Y, Klünemann H, Mengel E, Hrebicek M, Jones SA, Ory D, Bembi B, Patterson M; International Niemann-Pick Disease Registry (INPDR).

Orphanet J Rare Dis. 2018 Apr 6;13(1):50. doi: 10.1186/s13023-018-0785-7. Review.

26.

Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update.

Patterson MC, Clayton P, Gissen P, Anheim M, Bauer P, Bonnot O, Dardis A, Dionisi-Vici C, Klünemann HH, Latour P, Lourenço CM, Ory DS, Parker A, Pocoví M, Strupp M, Vanier MT, Walterfang M, Marquardt T.

Neurol Clin Pract. 2017 Dec;7(6):499-511. doi: 10.1212/CPJ.0000000000000399. Review.

27.

VPS33B and VIPAR are essential for epidermal lamellar body biogenesis and function.

Rogerson C, Gissen P.

Biochim Biophys Acta Mol Basis Dis. 2018 May;1864(5 Pt A):1609-1621. doi: 10.1016/j.bbadis.2018.01.028. Epub 2018 Jan 31.

28.

Mouse decellularised liver scaffold improves human embryonic and induced pluripotent stem cells differentiation into hepatocyte-like cells.

Lorvellec M, Scottoni F, Crowley C, Fiadeiro R, Maghsoudlou P, Pellegata AF, Mazzacuva F, Gjinovci A, Lyne AM, Zulini J, Little D, Mosaku O, Kelly D, De Coppi P, Gissen P.

PLoS One. 2017 Dec 20;12(12):e0189586. doi: 10.1371/journal.pone.0189586. eCollection 2017.

29.

Oculomotor abnormalities in children with Niemann-Pick type C.

Blundell J, Frisson S, Chakrapani A, Gissen P, Hendriksz C, Vijay S, Olson A.

Mol Genet Metab. 2018 Feb;123(2):159-168. doi: 10.1016/j.ymgme.2017.11.004. Epub 2017 Nov 16.

PMID:
29191430
30.

Lamin and the heart.

Captur G, Arbustini E, Bonne G, Syrris P, Mills K, Wahbi K, Mohiddin SA, McKenna WJ, Pettit S, Ho CY, Muchir A, Gissen P, Elliott PM, Moon JC.

Heart. 2018 Mar;104(6):468-479. doi: 10.1136/heartjnl-2017-312338. Epub 2017 Nov 25. Review.

PMID:
29175975
31.

Hematopoietic Stem-Cell Gene Therapy for Cerebral Adrenoleukodystrophy.

Eichler F, Duncan C, Musolino PL, Orchard PJ, De Oliveira S, Thrasher AJ, Armant M, Dansereau C, Lund TC, Miller WP, Raymond GV, Sankar R, Shah AJ, Sevin C, Gaspar HB, Gissen P, Amartino H, Bratkovic D, Smith NJC, Paker AM, Shamir E, O'Meara T, Davidson D, Aubourg P, Williams DA.

N Engl J Med. 2017 Oct 26;377(17):1630-1638. doi: 10.1056/NEJMoa1700554. Epub 2017 Oct 4.

32.

An LC-MS/MS-Based Method for the Quantification of Pyridox(am)ine 5'-Phosphate Oxidase Activity in Dried Blood Spots from Patients with Epilepsy.

Wilson MP, Footitt EJ, Papandreou A, Uudelepp ML, Pressler R, Stevenson DC, Gabriel C, McSweeney M, Baggot M, Burke D, Stödberg T, Riney K, Schiff M, Heales SJR, Mills KA, Gissen P, Clayton PT, Mills PB.

Anal Chem. 2017 Sep 5;89(17):8892-8900. doi: 10.1021/acs.analchem.7b01358. Epub 2017 Aug 17.

33.

Role of Intramuscular Levofolinate Administration in the Treatment of Hereditary Folate Malabsorption: Report of Three Cases.

Manea E, Gissen P, Pope S, Heales SJ, Batzios S.

JIMD Rep. 2018;39:7-12. doi: 10.1007/8904_2017_39. Epub 2017 Jul 7.

34.

Gene therapy for monogenic liver diseases: clinical successes, current challenges and future prospects.

Baruteau J, Waddington SN, Alexander IE, Gissen P.

J Inherit Metab Dis. 2017 Jul;40(4):497-517. doi: 10.1007/s10545-017-0053-3. Epub 2017 May 31. Review.

35.

Corrigendum: Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.

Meyer E, Carss KJ, Rankin J, Nichols JME, Grozeva D, Joseph AP, Mencacci NE, Papandreou A, Ng J, Barral S, Ngoh A, Ben-Pazi H, Willemsen MA, Arkadir D, Barnicoat A, Bergman H, Bhate S, Boys A, Darin N, Foulds N, Gutowski N, Hills A, Houlden H, Hurst JA, Israel Z, Kaminska M, Limousin P, Lumsden D, McKee S, Misra S, Mohammed SS, Nakou V, Nicolai J, Nilsson M, Pall H, Peall KJ, Peters GB, Prabhakar P, Reuter MS, Rump P, Segel R, Sinnema M, Smith M, Turnpenny P, White SM, Wieczorek D, Wiethoff S, Wilson BT, Winter G, Wragg C, Pope S, Heales SJH, Morrogh D; UK10K Consortium; Deciphering Developmental Disorders Study; NIHR BioResource Rare Diseases Consortium, Pittman A, Carr LJ, Perez-Dueñas B, Lin JP, Reis A, Gahl WA, Toro C, Bhatia KP, Wood NW, Kamsteeg EJ, Chong WK, Gissen P, Topf M, Dale RC, Chubb JR, Raymond FL, Kurian MA.

Nat Genet. 2017 May 26;49(6):969. doi: 10.1038/ng0617-969b. No abstract available.

PMID:
28546572
36.

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. 2017 Nov;19(11):1217-1225. doi: 10.1038/gim.2017.35. Epub 2017 Apr 27. Erratum in: Genet Med. 2019 Apr;21(4):1027.

PMID:
28471437
37.

α-Synuclein binds to the ER-mitochondria tethering protein VAPB to disrupt Ca2+ homeostasis and mitochondrial ATP production.

Paillusson S, Gomez-Suaga P, Stoica R, Little D, Gissen P, Devine MJ, Noble W, Hanger DP, Miller CCJ.

Acta Neuropathol. 2017 Jul;134(1):129-149. doi: 10.1007/s00401-017-1704-z. Epub 2017 Mar 23.

38.

Mutations in SLC25A22: hyperprolinaemia, vacuolated fibroblasts and presentation with developmental delay.

Reid ES, Williams H, Anderson G, Benatti M, Chong K, James C, Ocaka L; GOSgene, Hemingway C, Little D, Brown R, Parker A, Holden S, Footitt E, Rahman S, Gissen P, Mills PB, Clayton PT.

J Inherit Metab Dis. 2017 May;40(3):385-394. doi: 10.1007/s10545-017-0025-7. Epub 2017 Mar 2.

39.

Expanding the phenotype in argininosuccinic aciduria: need for new therapies.

Baruteau J, Jameson E, Morris AA, Chakrapani A, Santra S, Vijay S, Kocadag H, Beesley CE, Grunewald S, Murphy E, Cleary M, Mundy H, Abulhoul L, Broomfield A, Lachmann R, Rahman Y, Robinson PH, MacPherson L, Foster K, Chong WK, Ridout DA, Bounford KM, Waddington SN, Mills PB, Gissen P, Davison JE.

J Inherit Metab Dis. 2017 May;40(3):357-368. doi: 10.1007/s10545-017-0022-x. Epub 2017 Mar 1.

40.

Multiplex High-Throughput Targeted Proteomic Assay To Identify Induced Pluripotent Stem Cells.

Baud A, Wessely F, Mazzacuva F, McCormick J, Camuzeaux S, Heywood WE, Little D, Vowles J, Tuefferd M, Mosaku O, Lako M, Armstrong L, Webber C, Cader MZ, Peeters P, Gissen P, Cowley SA, Mills K.

Anal Chem. 2017 Feb 21;89(4):2440-2448. doi: 10.1021/acs.analchem.6b04368. Epub 2017 Feb 6.

PMID:
28192931
41.

Vps33b is crucial for structural and functional hepatocyte polarity.

Hanley J, Dhar DK, Mazzacuva F, Fiadeiro R, Burden JJ, Lyne AM, Smith H, Straatman-Iwanowska A, Banushi B, Virasami A, Mills K, Lemaigre FP, Knisely AS, Howe S, Sebire N, Waddington SN, Paulusma CC, Clayton P, Gissen P.

J Hepatol. 2017 May;66(5):1001-1011. doi: 10.1016/j.jhep.2017.01.001. Epub 2017 Jan 9.

42.

Delivering efficient liver-directed AAV-mediated gene therapy.

Baruteau J, Waddington SN, Alexander IE, Gissen P.

Gene Ther. 2017 May;24(5):263-264. doi: 10.1038/gt.2016.90. Epub 2017 Jan 12. No abstract available.

PMID:
28079048
43.

Autosomal Recessive Keratoderma-Ichthyosis-Deafness (ARKID) Syndrome Is Caused by VPS33B Mutations Affecting Rab Protein Interaction and Collagen Modification.

Gruber R, Rogerson C, Windpassinger C, Banushi B, Straatman-Iwanowska A, Hanley J, Forneris F, Strohal R, Ulz P, Crumrine D, Menon GK, Blunder S, Schmuth M, Müller T, Smith H, Mills K, Kroisel P, Janecke AR, Gissen P.

J Invest Dermatol. 2017 Apr;137(4):845-854. doi: 10.1016/j.jid.2016.12.010. Epub 2016 Dec 23. Review.

44.

Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.

Meyer E, Carss KJ, Rankin J, Nichols JM, Grozeva D, Joseph AP, Mencacci NE, Papandreou A, Ng J, Barral S, Ngoh A, Ben-Pazi H, Willemsen MA, Arkadir D, Barnicoat A, Bergman H, Bhate S, Boys A, Darin N, Foulds N, Gutowski N, Hills A, Houlden H, Hurst JA, Israel Z, Kaminska M, Limousin P, Lumsden D, McKee S, Misra S, Mohammed SS, Nakou V, Nicolai J, Nilsson M, Pall H, Peall KJ, Peters GB, Prabhakar P, Reuter MS, Rump P, Segel R, Sinnema M, Smith M, Turnpenny P, White SM, Wieczorek D, Wiethoff S, Wilson BT, Winter G, Wragg C, Pope S, Heales SJ, Morrogh D; UK10K Consortium; Deciphering Developmental Disorders Study; NIHR BioResource Rare Diseases Consortium, Pittman A, Carr LJ, Perez-Dueñas B, Lin JP, Reis A, Gahl WA, Toro C, Bhatia KP, Wood NW, Kamsteeg EJ, Chong WK, Gissen P, Topf M, Dale RC, Chubb JR, Raymond FL, Kurian MA.

Nat Genet. 2017 Feb;49(2):223-237. doi: 10.1038/ng.3740. Epub 2016 Dec 19. Erratum in: Nat Genet. 2017 May 26;49(6):969.

PMID:
27992417
45.

The CHEVI tethering complex: facilitating special deliveries.

Rogerson C, Gissen P.

J Pathol. 2016 Nov;240(3):249-252. doi: 10.1002/path.4785.

PMID:
27555442
46.

Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.

Reid ES, Papandreou A, Drury S, Boustred C, Yue WW, Wedatilake Y, Beesley C, Jacques TS, Anderson G, Abulhoul L, Broomfield A, Cleary M, Grunewald S, Varadkar SM, Lench N, Rahman S, Gissen P, Clayton PT, Mills PB.

Brain. 2016 Nov 1;139(11):2844-2854. doi: 10.1093/brain/aww221.

47.

Whole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defects.

Johnson B, Lowe GC, Futterer J, Lordkipanidzé M, MacDonald D, Simpson MA, Sanchez-Guiú I, Drake S, Bem D, Leo V, Fletcher SJ, Dawood B, Rivera J, Allsup D, Biss T, Bolton-Maggs PH, Collins P, Curry N, Grimley C, James B, Makris M, Motwani J, Pavord S, Talks K, Thachil J, Wilde J, Williams M, Harrison P, Gissen P, Mundell S, Mumford A, Daly ME, Watson SP, Morgan NV; UK GAPP Study Group.

Haematologica. 2016 Oct;101(10):1170-1179. Epub 2016 Jun 16.

48.

Regulation of post-Golgi LH3 trafficking is essential for collagen homeostasis.

Banushi B, Forneris F, Straatman-Iwanowska A, Strange A, Lyne AM, Rogerson C, Burden JJ, Heywood WE, Hanley J, Doykov I, Straatman KR, Smith H, Bem D, Kriston-Vizi J, Ariceta G, Risteli M, Wang C, Ardill RE, Zaniew M, Latka-Grot J, Waddington SN, Howe SJ, Ferraro F, Gjinovci A, Lawrence S, Marsh M, Girolami M, Bozec L, Mills K, Gissen P.

Nat Commun. 2016 Jul 20;7:12111. doi: 10.1038/ncomms12111.

49.

Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical review.

Vanier MT, Gissen P, Bauer P, Coll MJ, Burlina A, Hendriksz CJ, Latour P, Goizet C, Welford RW, Marquardt T, Kolb SA.

Mol Genet Metab. 2016 Aug;118(4):244-54. doi: 10.1016/j.ymgme.2016.06.004. Epub 2016 Jun 7. Review.

50.

Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia.

Tuschl K, Meyer E, Valdivia LE, Zhao N, Dadswell C, Abdul-Sada A, Hung CY, Simpson MA, Chong WK, Jacques TS, Woltjer RL, Eaton S, Gregory A, Sanford L, Kara E, Houlden H, Cuno SM, Prokisch H, Valletta L, Tiranti V, Younis R, Maher ER, Spencer J, Straatman-Iwanowska A, Gissen P, Selim LA, Pintos-Morell G, Coroleu-Lletget W, Mohammad SS, Yoganathan S, Dale RC, Thomas M, Rihel J, Bodamer OA, Enns CA, Hayflick SJ, Clayton PT, Mills PB, Kurian MA, Wilson SW.

Nat Commun. 2016 May 27;7:11601. doi: 10.1038/ncomms11601.

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