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Items: 1 to 50 of 527

1.

The mitochondrial DNA genetic bottleneck: inheritance and beyond.

Zhang H, Burr SP, Chinnery PF.

Essays Biochem. 2018 Jun 7. pii: EBC20170096. doi: 10.1042/EBC20170096. [Epub ahead of print] Review.

PMID:
29880721
2.

Mutation-specific effects in germline transmission of pathogenic mtDNA variants.

Otten ABC, Sallevelt SCEH, Carling PJ, Dreesen JCFM, Drüsedau M, Spierts S, Paulussen ADC, de Die-Smulders CEM, Herbert M, Chinnery PF, Samuels DC, Lindsey P, Smeets HJM.

Hum Reprod. 2018 May 30. doi: 10.1093/humrep/dey114. [Epub ahead of print]

PMID:
29850888
3.

First-line genomic diagnosis of mitochondrial disorders.

Raymond FL, Horvath R, Chinnery PF.

Nat Rev Genet. 2018 Jul;19(7):399-400. doi: 10.1038/s41576-018-0022-1. No abstract available.

PMID:
29789687
4.

Correction: Background sequence characteristics influence the occurrence and severity of disease-causing mtDNA mutations.

Wei W, Gomez-Duran A, Hudson G, Chinnery PF.

PLoS Genet. 2018 May 4;14(5):e1007364. doi: 10.1371/journal.pgen.1007364. eCollection 2018 May.

5.

Multifocal demyelinating motor neuropathy and hamartoma syndrome associated with a de novo PTEN mutation.

Bansagi B, Phan V, Baker MR, O'Sullivan J, Jennings MJ, Whittaker RG, Müller JS, Duff J, Griffin H, Miller JAL, Gorman GS, Lochmüller H, Chinnery PF, Roos A, Swan LE, Horvath R.

Neurology. 2018 May 22;90(21):e1842-e1848. doi: 10.1212/WNL.0000000000005566. Epub 2018 May 2.

6.

Author Correction: Segregation of mitochondrial DNA heteroplasmy through a developmental genetic bottleneck in human embryos.

Floros VI, Pyle A, Dietmann S, Wei W, Tang WWC, Irie N, Payne B, Capalbo A, Noli L, Coxhead J, Hudson G, Crosier M, Strahl H, Khalaf Y, Saitou M, Ilic D, Surani MA, Chinnery PF.

Nat Cell Biol. 2018 Apr 19. doi: 10.1038/s41556-018-0064-9. [Epub ahead of print]

PMID:
29674682
7.

PLP1 mutations and central demyelination: Evidence from electrophysiologic phenotyping in female manifesting carriers.

Keogh MJ, Jaiser SR, Steele HE, Horvath R, Chinnery PF, Baker MR.

Neurol Clin Pract. 2017 Oct;7(5):451-454. doi: 10.1212/CPJ.0000000000000346. No abstract available.

PMID:
29620084
8.

Stem cell modeling of mitochondrial parkinsonism reveals key functions of OPA1.

Jonikas M, Madill M, Mathy A, Zekoll T, Zois CE, Wigfield S, Kurzawa-Akanbi M, Browne C, Sims D, Chinnery PF, Cowley SA, Tofaris GK.

Ann Neurol. 2018 Mar 31. doi: 10.1002/ana.25221. [Epub ahead of print]

PMID:
29604226
9.

Retrospective natural history of thymidine kinase 2 deficiency.

Garone C, Taylor RW, Nascimento A, Poulton J, Fratter C, Domínguez-González C, Evans JC, Loos M, Isohanni P, Suomalainen A, Ram D, Hughes MI, McFarland R, Barca E, Lopez Gomez C, Jayawant S, Thomas ND, Manzur AY, Kleinsteuber K, Martin MA, Kerr T, Gorman GS, Sommerville EW, Chinnery PF, Hofer M, Karch C, Ralph J, Cámara Y, Madruga-Garrido M, Domínguez-Carral J, Ortez C, Emperador S, Montoya J, Chakrapani A, Kriger JF, Schoenaker R, Levin B, Thompson JLP, Long Y, Rahman S, Donati MA, DiMauro S, Hirano M.

J Med Genet. 2018 Mar 30. pii: jmedgenet-2017-105012. doi: 10.1136/jmedgenet-2017-105012. [Epub ahead of print]

10.

Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like disease.

Boczonadi V, King MS, Smith AC, Olahova M, Bansagi B, Roos A, Eyassu F, Borchers C, Ramesh V, Lochmüller H, Polvikoski T, Whittaker RG, Pyle A, Griffin H, Taylor RW, Chinnery PF, Robinson AJ, Kunji ERS, Horvath R.

Genet Med. 2018 Mar 8. doi: 10.1038/gim.2017.251. [Epub ahead of print]

PMID:
29517768
11.

MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load.

Ng YS, Lax NZ, Maddison P, Alston CL, Blakely EL, Hepplewhite PD, Riordan G, Meldau S, Chinnery PF, Pierre G, Chronopoulou E, Du A, Hughes I, Morris AA, Kamakari S, Chrousos G, Rodenburg RJ, Saris CGJ, Feeney C, Hardy SA, Sakakibara T, Sudo A, Okazaki Y, Murayama K, Mundy H, Hanna MG, Ohtake A, Schaefer AM, Champion MP, Turnbull DM, Taylor RW, Pitceathly RDS, McFarland R, Gorman GS.

EBioMedicine. 2018 Apr;30:86-93. doi: 10.1016/j.ebiom.2018.02.010. Epub 2018 Feb 24.

12.

Mitochondria and Hypoxia: Metabolic Crosstalk in Cell-Fate Decisions.

Bargiela D, Burr SP, Chinnery PF.

Trends Endocrinol Metab. 2018 Apr;29(4):249-259. doi: 10.1016/j.tem.2018.02.002. Epub 2018 Feb 28. Review.

PMID:
29501229
13.

POLG-Related Disorders.

Cohen BH, Chinnery PF, Copeland WC.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2010 Mar 16 [updated 2018 Mar 1].

14.

TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations.

Lee Y, Jonson PH, Sarparanta J, Palmio J, Sarkar M, Vihola A, Evilä A, Suominen T, Penttilä S, Savarese M, Johari M, Minot MC, Hilton-Jones D, Maddison P, Chinnery P, Reimann J, Kornblum C, Kraya T, Zierz S, Sue C, Goebel H, Azfer A, Ralston SH, Hackman P, Bucelli RC, Taylor JP, Weihl CC, Udd B.

J Clin Invest. 2018 Mar 1;128(3):1164-1177. doi: 10.1172/JCI97103. Epub 2018 Feb 19.

15.

Mitochondrial DNA Heteroplasmy and Purifying Selection in the Mammalian Female Germ Line.

Burr SP, Pezet M, Chinnery PF.

Dev Growth Differ. 2018 Jan;60(1):21-32. doi: 10.1111/dgd.12420. Epub 2018 Jan 24. Review.

PMID:
29363102
16.

A novel mechanism causing imbalance of mitochondrial fusion and fission in human myopathies.

Bartsakoulia M, Pyle A, Troncoso-Chandía D, Vial-Brizzi J, Paz-Fiblas MV, Duff J, Griffin H, Boczonadi V, Lochmüller H, Kleinle S, Chinnery PF, Grünert S, Kirschner J, Eisner V, Horvath R.

Hum Mol Genet. 2018 Apr 1;27(7):1186-1195. doi: 10.1093/hmg/ddy033.

PMID:
29361167
17.

Segregation of mitochondrial DNA heteroplasmy through a developmental genetic bottleneck in human embryos.

Floros VI, Pyle A, Dietmann S, Wei W, Tang WCW, Irie N, Payne B, Capalbo A, Noli L, Coxhead J, Hudson G, Crosier M, Strahl H, Khalaf Y, Saitou M, Ilic D, Surani MA, Chinnery PF.

Nat Cell Biol. 2018 Feb;20(2):144-151. doi: 10.1038/s41556-017-0017-8. Epub 2018 Jan 15. Erratum in: Nat Cell Biol. 2018 Apr 19;:.

PMID:
29335530
18.

Neuroferritinopathy.

Chinnery PF.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2005 Apr 25 [updated 2018 Jan 18].

19.

Oligogenic genetic variation of neurodegenerative disease genes in 980 postmortem human brains.

Keogh MJ, Wei W, Aryaman J, Wilson I, Talbot K, Turner MR, McKenzie CA, Troakes C, Attems J, Smith C, Al Sarraj S, Morris CM, Ansorge O, Pickering-Brown S, Jones N, Ironside JW, Chinnery PF.

J Neurol Neurosurg Psychiatry. 2018 Jan 13. pii: jnnp-2017-317234. doi: 10.1136/jnnp-2017-317234. [Epub ahead of print]

20.

Topoisomerase 3α Is Required for Decatenation and Segregation of Human mtDNA.

Nicholls TJ, Nadalutti CA, Motori E, Sommerville EW, Gorman GS, Basu S, Hoberg E, Turnbull DM, Chinnery PF, Larsson NG, Larsson E, Falkenberg M, Taylor RW, Griffith JD, Gustafsson CM.

Mol Cell. 2018 Jan 4;69(1):9-23.e6. doi: 10.1016/j.molcel.2017.11.033. Epub 2017 Dec 28.

PMID:
29290614
21.

Opening One's Eyes to Mosaicism in Progressive External Ophthalmoplegia.

Sommerville EW, Jones RL, Hardy SA, Blakely EL, Pyle A, Schaefer AM, Chinnery PF, Turnbull DM, Gorman GS, Taylor RW.

Neurol Genet. 2017 Dec 15;3(6):e202. doi: 10.1212/NXG.0000000000000202. eCollection 2017 Dec. No abstract available.

22.

Background sequence characteristics influence the occurrence and severity of disease-causing mtDNA mutations.

Wei W, Gomez-Duran A, Hudson G, Chinnery PF.

PLoS Genet. 2017 Dec 18;13(12):e1007126. doi: 10.1371/journal.pgen.1007126. eCollection 2017 Dec. Erratum in: PLoS Genet. 2018 May 4;14 (5):e1007364.

23.

Response to Newman et al.

Parikh S, Goldstein A, Karaa A, Koenig MK, Anselm I, Brunel-Guitton C, Christodoulou J, Cohen BH, Dimmock D, Enns GM, Falk MJ, Feigenbaum A, Frye RE, Ganesh J, Griesemer D, Haas R, Horvath R, Korson M, Kruer MC, Mancuso M, McCormack S, Josee Raboisson M, Reimschisel T, Salvarinova R, Saneto RP, Scaglia F, Shoffner J, Stacpoole PW, Sue CM, Tarnopolsky M, Van Karnebeek C, Wolfe LA, Zolkipli Cunningham Z, Rahman S, Chinnery PF.

Genet Med. 2017 Dec;19(12). doi: 10.1038/gim.2017.164. Epub 2017 Oct 26. No abstract available.

PMID:
29215644
24.

Heterozygous SSBP1 start loss mutation co-segregates with hearing loss and the m.1555A>G mtDNA variant in a large multigenerational family.

Kullar PJ, Gomez-Duran A, Gammage PA, Garone C, Minczuk M, Golder Z, Wilson J, Montoya J, Häkli S, Kärppä M, Horvath R, Majamaa K, Chinnery PF.

Brain. 2018 Jan 1;141(1):55-62. doi: 10.1093/brain/awx295.

25.

Clinical, pathological and functional characterization of riboflavin-responsive neuropathy.

Manole A, Jaunmuktane Z, Hargreaves I, Ludtmann MHR, Salpietro V, Bello OD, Pope S, Pandraud A, Horga A, Scalco RS, Li A, Ashokkumar B, Lourenço CM, Heales S, Horvath R, Chinnery PF, Toro C, Singleton AB, Jacques TS, Abramov AY, Muntoni F, Hanna MG, Reilly MM, Revesz T, Kullmann DM, Jepson JEC, Houlden H.

Brain. 2017 Nov 1;140(11):2820-2837. doi: 10.1093/brain/awx231.

26.

Monitoring clinical progression with mitochondrial disease biomarkers.

Steele HE, Horvath R, Lyon JJ, Chinnery PF.

Brain. 2017 Oct 1;140(10):2530-2540. doi: 10.1093/brain/awx168. Review.

27.

De novo CTBP1 variant is associated with decreased mitochondrial respiratory chain activities.

Sommerville EW, Alston CL, Pyle A, He L, Falkous G, Naismith K, Chinnery PF, McFarland R, Taylor RW.

Neurol Genet. 2017 Sep 22;3(5):e187. doi: 10.1212/NXG.0000000000000187. eCollection 2017 Oct.

28.

Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies.

Feichtinger RG, Oláhová M, Kishita Y, Garone C, Kremer LS, Yagi M, Uchiumi T, Jourdain AA, Thompson K, D'Souza AR, Kopajtich R, Alston CL, Koch J, Sperl W, Mastantuono E, Strom TM, Wortmann SB, Meitinger T, Pierre G, Chinnery PF, Chrzanowska-Lightowlers ZM, Lightowlers RN, DiMauro S, Calvo SE, Mootha VK, Moggio M, Sciacco M, Comi GP, Ronchi D, Murayama K, Ohtake A, Rebelo-Guiomar P, Kohda M, Kang D, Mayr JA, Taylor RW, Okazaki Y, Minczuk M, Prokisch H.

Am J Hum Genet. 2017 Oct 5;101(4):525-538. doi: 10.1016/j.ajhg.2017.08.015. Epub 2017 Sep 21.

29.

Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society.

Parikh S, Goldstein A, Karaa A, Koenig MK, Anselm I, Brunel-Guitton C, Christodoulou J, Cohen BH, Dimmock D, Enns GM, Falk MJ, Feigenbaum A, Frye RE, Ganesh J, Griesemer D, Haas R, Horvath R, Korson M, Kruer MC, Mancuso M, McCormack S, Raboisson MJ, Reimschisel T, Salvarinova R, Saneto RP, Scaglia F, Shoffner J, Stacpoole PW, Sue CM, Tarnopolsky M, Van Karnebeek C, Wolfe LA, Cunningham ZZ, Rahman S, Chinnery PF.

Genet Med. 2017 Dec;19(12). doi: 10.1038/gim.2017.107. Epub 2017 Jul 27. Review.

PMID:
28749475
30.

The pattern of retinal ganglion cell dysfunction in Leber hereditary optic neuropathy.

Majander A, Robson AG, João C, Holder GE, Chinnery PF, Moore AT, Votruba M, Stockman A, Yu-Wai-Man P.

Mitochondrion. 2017 Sep;36:138-149. doi: 10.1016/j.mito.2017.07.006. Epub 2017 Jul 18.

31.

Mitochondria in neuroinflammation - Multiple sclerosis (MS), leber hereditary optic neuropathy (LHON) and LHON-MS.

Bargiela D, Chinnery PF.

Neurosci Lett. 2017 Jun 28. pii: S0304-3940(17)30543-8. doi: 10.1016/j.neulet.2017.06.051. [Epub ahead of print] Review.

32.

Mitochondrial DNA depletion induces innate immune dysfunction rescued by IFN-γ.

Widdrington JD, Gomez-Duran A, Steyn JS, Pyle A, Ruchaud-Sparagano MH, Scott J, Baudouin SV, Rostron AJ, Simpson J, Chinnery PF.

J Allergy Clin Immunol. 2017 Nov;140(5):1461-1464.e8. doi: 10.1016/j.jaci.2017.04.048. Epub 2017 Jun 17. No abstract available.

33.

Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia.

Minnerop M, Kurzwelly D, Wagner H, Soehn AS, Reichbauer J, Tao F, Rattay TW, Peitz M, Rehbach K, Giorgetti A, Pyle A, Thiele H, Altmüller J, Timmann D, Karaca I, Lennarz M, Baets J, Hengel H, Synofzik M, Atasu B, Feely S, Kennerson M, Stendel C, Lindig T, Gonzalez MA, Stirnberg R, Sturm M, Roeske S, Jung J, Bauer P, Lohmann E, Herms S, Heilmann-Heimbach S, Nicholson G, Mahanjah M, Sharkia R, Carloni P, Brüstle O, Klopstock T, Mathews KD, Shy ME, de Jonghe P, Chinnery PF, Horvath R, Kohlhase J, Schmitt I, Wolf M, Greschus S, Amunts K, Maier W, Schöls L, Nürnberg P, Zuchner S, Klockgether T, Ramirez A, Schüle R.

Brain. 2017 Jun 1;140(6):1561-1578. doi: 10.1093/brain/awx095.

PMID:
28459997
34.

Response to Simon et al.

Wei W, Keogh MJ, Ironside JW, Chinnery PF.

Acta Neuropathol Commun. 2017 Apr 29;5(1):34. doi: 10.1186/s40478-017-0434-8. No abstract available.

35.

Amyloid-β accumulation in the CNS in human growth hormone recipients in the UK.

Ritchie DL, Adlard P, Peden AH, Lowrie S, Le Grice M, Burns K, Jackson RJ, Yull H, Keogh MJ, Wei W, Chinnery PF, Head MW, Ironside JW.

Acta Neuropathol. 2017 Aug;134(2):221-240. doi: 10.1007/s00401-017-1703-0. Epub 2017 Mar 27.

36.

Childhood-onset Leber hereditary optic neuropathy.

Majander A, Bowman R, Poulton J, Antcliff RJ, Reddy MA, Michaelides M, Webster AR, Chinnery PF, Votruba M, Moore AT, Yu-Wai-Man P.

Br J Ophthalmol. 2017 Nov;101(11):1505-1509. doi: 10.1136/bjophthalmol-2016-310072. Epub 2017 Mar 17.

37.

Mutations in mitochondrial DNA causing tubulointerstitial kidney disease.

Connor TM, Hoer S, Mallett A, Gale DP, Gomez-Duran A, Posse V, Antrobus R, Moreno P, Sciacovelli M, Frezza C, Duff J, Sheerin NS, Sayer JA, Ashcroft M, Wiesener MS, Hudson G, Gustafsson CM, Chinnery PF, Maxwell PH.

PLoS Genet. 2017 Mar 7;13(3):e1006620. doi: 10.1371/journal.pgen.1006620. eCollection 2017 Mar.

38.

Genetic heterogeneity of motor neuropathies.

Bansagi B, Griffin H, Whittaker RG, Antoniadi T, Evangelista T, Miller J, Greenslade M, Forester N, Duff J, Bradshaw A, Kleinle S, Boczonadi V, Steele H, Ramesh V, Franko E, Pyle A, Lochmüller H, Chinnery PF, Horvath R.

Neurology. 2017 Mar 28;88(13):1226-1234. doi: 10.1212/WNL.0000000000003772. Epub 2017 Mar 1.

39.

Erratum to: Mitochondrial DNA point mutations and relative copy number in 1363 disease and control human brains.

Wei W, Keogh MJ, Wilson I, Coxhead J, Ryan S, Rollinson S, Griffin H, Kurzawa-Akanbi M, Santibanez-Koref M, Talbot K, Turner MR, McKenzie CA, Troakes C, Attems J, Smith C, Al Sarraj S, Morris CM, Ansorge O, Pickering-Brown S, Ironside JW, Chinnery PF.

Acta Neuropathol Commun. 2017 Feb 22;5(1):17. doi: 10.1186/s40478-017-0419-7. No abstract available.

40.

Mitochondrial DNA point mutations and relative copy number in 1363 disease and control human brains.

Wei W, Keogh MJ, Wilson I, Coxhead J, Ryan S, Rollinson S, Griffin H, Kurzawa-Akanbi M, Santibanez-Koref M, Talbot K, Turner MR, McKenzie CA, Troakes C, Attems J, Smith C, Al Sarraj S, Morris CM, Ansorge O, Pickering-Brown S, Ironside JW, Chinnery PF.

Acta Neuropathol Commun. 2017 Feb 2;5(1):13. doi: 10.1186/s40478-016-0404-6. Erratum in: Acta Neuropathol Commun. 2017 Feb 22;5(1):17.

41.

Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource.

Keogh MJ, Wei W, Wilson I, Coxhead J, Ryan S, Rollinson S, Griffin H, Kurzawa-Akanbi M, Santibanez-Koref M, Talbot K, Turner MR, McKenzie CA, Troakes C, Attems J, Smith C, Al Sarraj S, Morris CM, Ansorge O, Pickering-Brown S, Ironside JW, Chinnery PF.

Genome Res. 2017 Jan;27(1):165-173. doi: 10.1101/gr.210609.116. Epub 2016 Dec 21.

42.

Mitochondrial Matchmaking.

Chinnery PF, Zeviani M.

N Engl J Med. 2016 Nov 10;375(19):1894-1896. No abstract available.

PMID:
27959648
43.

The Human Phenotype Ontology in 2017.

Köhler S, Vasilevsky NA, Engelstad M, Foster E, McMurry J, Aymé S, Baynam G, Bello SM, Boerkoel CF, Boycott KM, Brudno M, Buske OJ, Chinnery PF, Cipriani V, Connell LE, Dawkins HJ, DeMare LE, Devereau AD, de Vries BB, Firth HV, Freson K, Greene D, Hamosh A, Helbig I, Hum C, Jähn JA, James R, Krause R, F Laulederkind SJ, Lochmüller H, Lyon GJ, Ogishima S, Olry A, Ouwehand WH, Pontikos N, Rath A, Schaefer F, Scott RH, Segal M, Sergouniotis PI, Sever R, Smith CL, Straub V, Thompson R, Turner C, Turro E, Veltman MW, Vulliamy T, Yu J, von Ziegenweidt J, Zankl A, Züchner S, Zemojtel T, Jacobsen JO, Groza T, Smedley D, Mungall CJ, Haendel M, Robinson PN.

Nucleic Acids Res. 2017 Jan 4;45(D1):D865-D876. doi: 10.1093/nar/gkw1039. Epub 2016 Nov 28. Review.

44.

Phenotypic convergence of Menkes and Wilson disease.

Bansagi B, Lewis-Smith D, Pal E, Duff J, Griffin H, Pyle A, Müller JS, Rudas G, Aranyi Z, Lochmüller H, Chinnery PF, Horvath R.

Neurol Genet. 2016 Nov 17;2(6):e119. eCollection 2016 Dec.

45.

Adult Onset Leigh Syndrome in the Intensive Care Setting: A Novel Presentation of a C12orf65 Related Mitochondrial Disease.

Wesolowska M, Gorman GS, Alston CL, Pajak A, Pyle A, He L, Griffin H, Chinnery PF, Miller JA, Schaefer AM, Taylor RW, Lightowlers RN, Chrzanowska-Lightowlers ZM.

J Neuromuscul Dis. 2015 Oct 7;2(4):409-419.

46.

The Effect of Neurological Genomics and Personalized Mitochondrial Medicine.

Horvath R, Chinnery PF.

JAMA Neurol. 2017 Jan 1;74(1):11-13. doi: 10.1001/jamaneurol.2016.4506. No abstract available.

PMID:
27842150
47.

HDBR Expression: A Unique Resource for Global and Individual Gene Expression Studies during Early Human Brain Development.

Lindsay SJ, Xu Y, Lisgo SN, Harkin LF, Copp AJ, Gerrelli D, Clowry GJ, Talbot A, Keogh MJ, Coxhead J, Santibanez-Koref M, Chinnery PF.

Front Neuroanat. 2016 Oct 26;10:86. eCollection 2016. No abstract available.

48.

Novel HSPB1 mutation causes both motor neuronopathy and distal myopathy.

Lewis-Smith DJ, Duff J, Pyle A, Griffin H, Polvikoski T, Birchall D, Horvath R, Chinnery PF.

Neurol Genet. 2016 Oct 31;2(6):e110. eCollection 2016 Dec.

49.

The mitochondrial protein CHCHD2 primes the differentiation potential of human induced pluripotent stem cells to neuroectodermal lineages.

Zhu L, Gomez-Duran A, Saretzki G, Jin S, Tilgner K, Melguizo-Sanchis D, Anyfantis G, Al-Aama J, Vallier L, Chinnery P, Lako M, Armstrong L.

J Cell Biol. 2016 Oct 24;215(2):187-202. Epub 2016 Oct 17.

50.

A Woman With Intellectual Disability, Amenorrhoea, Seizures, and Balance Problems.

Hughes AJ, Steele HE, Pyle A, Hart Y, Quinton R, Chinnery PF.

JAMA Neurol. 2016 Dec 1;73(12):1494-1495. doi: 10.1001/jamaneurol.2016.3613. No abstract available.

PMID:
27775760

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