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Items: 1 to 50 of 182

1.

Associations between restrictive fluid management and renal function and tissue perfusion in adults with severe falciparum malaria - a prospective observational study.

Ishioka H, Plewes K, Pattnaik R, Kingston HWF, Leopold SJ, Herdman MT, Mahanta K, Mohanty A, Dey C, Alam S, Srinamon K, Mohanty A, Maude RJ, White NJ, Day NPJ, Hossain MA, Faiz MA, Charunwatthana P, Mohanty S, Ghose A, Dondorp AM.

J Infect Dis. 2019 Aug 31. pii: jiz449. doi: 10.1093/infdis/jiz449. [Epub ahead of print]

PMID:
31504666
2.

Amino acid derangements in adults with severe falciparum malaria.

Leopold SJ, Apinan S, Ghose A, Kingston HW, Plewes KA, Hossain A, Dutta AK, Paul S, Barua A, Sattar A, Day NPJ, Tarning J, Winterberg M, White NJ, Dondorp AM.

Sci Rep. 2019 Apr 29;9(1):6602. doi: 10.1038/s41598-019-43044-6.

3.

Does reduced oxygen delivery cause lactic acidosis in falciparum malaria? An observational study.

Kingston HW, Ghose A, Rungpradubvong V, Herdman MT, Plewes K, Ishioka H, Leopold SJ, Maude RJ, Intharabut B, Mohanty S, Day NPJ, White NJ, Hossain MA, Anstey NM, Dondorp AM.

Malar J. 2019 Mar 25;18(1):97. doi: 10.1186/s12936-019-2733-y.

4.

Malaria: What's New in the Management of Malaria?

Plewes K, Leopold SJ, Kingston HWF, Dondorp AM.

Infect Dis Clin North Am. 2019 Mar;33(1):39-60. doi: 10.1016/j.idc.2018.10.002. Review.

5.

Artemisinin Resistance and Stage Dependency of Parasite Clearance in Falciparum Malaria.

Intharabut B, Kingston HW, Srinamon K, Ashley EA, Imwong M, Dhorda M, Woodrow C, Stepniewska K, Silamut K, Day NPJ, Dondorp AM, White NJ; Tracking Resistance to Artemisinin Collaboration.

J Infect Dis. 2019 Apr 16;219(9):1483-1489. doi: 10.1093/infdis/jiy673. Erratum in: J Infect Dis. 2019 Jun 5;220(1):179.

6.

Identifying the Components of Acidosis in Patients With Severe Plasmodium falciparum Malaria Using Metabolomics.

Leopold SJ, Ghose A, Allman EL, Kingston HWF, Hossain A, Dutta AK, Plewes K, Chotivanich K, Day NPJ, Tarning J, Winterberg M, White NJ, Llinás M, Dondorp AM.

J Infect Dis. 2019 May 5;219(11):1766-1776. doi: 10.1093/infdis/jiy727.

7.

Point-of-care lung ultrasound for the detection of pulmonary manifestations of malaria and sepsis: An observational study.

Leopold SJ, Ghose A, Plewes KA, Mazumder S, Pisani L, Kingston HWF, Paul S, Barua A, Sattar MA, Huson MAM, Walden AP, Henwood PC, Riviello ED, Schultz MJ, Day NPJ, Kumar Dutta A, White NJ, Dondorp AM.

PLoS One. 2018 Dec 12;13(12):e0204832. doi: 10.1371/journal.pone.0204832. eCollection 2018.

8.

Connectedness benefits both patients and staff.

Kingston HM.

BMJ. 2018 Oct 16;363:k4305. doi: 10.1136/bmj.k4305. No abstract available.

PMID:
30327385
9.

Reducing emergency hospital admissions: a population health complex intervention of an enhanced model of primary care and compassionate communities.

Abel J, Kingston H, Scally A, Hartnoll J, Hannam G, Thomson-Moore A, Kellehear A.

Br J Gen Pract. 2018 Nov;68(676):e803-e810. doi: 10.3399/bjgp18X699437. Epub 2018 Oct 8.

PMID:
30297434
10.

Diagnostic Accuracy of the InBios Scrub Typhus Detect™ ELISA for the Detection of IgM Antibodies in Chittagong, Bangladesh.

Blacksell SD, Kingston HWF, Tanganuchitcharnchai A, Phanichkrivalkosil M, Hossain M, Hossain A, Ghose A, Leopold SJ, Dondorp AM, Day NPJ, Paris DH.

Trop Med Infect Dis. 2018 Sep 1;3(3). pii: E95. doi: 10.3390/tropicalmed3030095.

11.

Rickettsial Illnesses as Important Causes of Febrile Illness in Chittagong, Bangladesh.

Kingston HW, Hossain M, Leopold S, Anantatat T, Tanganuchitcharnchai A, Sinha I, Plewes K, Maude RJ, Chowdhury MAH, Paul S, Uddin RAME, Siddiqui MAN, Zahed AS, Abu Sayeed A, Rahman MH, Barua A, Uddin MJ, Sattar MA, Dondorp AM, Blacksell SD, Day NPJ, Ghose A, Hossain A, Paris DH.

Emerg Infect Dis. 2018 Apr;24(4). doi: 10.3201/eid2404.170190.

12.

Acetaminophen as a Renoprotective Adjunctive Treatment in Patients With Severe and Moderately Severe Falciparum Malaria: A Randomized, Controlled, Open-Label Trial.

Plewes K, Kingston HWF, Ghose A, Wattanakul T, Hassan MMU, Haider MS, Dutta PK, Islam MA, Alam S, Jahangir SM, Zahed ASM, Sattar MA, Chowdhury MAH, Herdman MT, Leopold SJ, Ishioka H, Piera KA, Charunwatthana P, Silamut K, Yeo TW, Lee SJ, Mukaka M, Maude RJ, Turner GDH, Faiz MA, Tarning J, Oates JA, Anstey NM, White NJ, Day NPJ, Hossain MA, Roberts Ii LJ, Dondorp AM.

Clin Infect Dis. 2018 Sep 14;67(7):991-999. doi: 10.1093/cid/ciy213.

13.

Disease Severity and Effective Parasite Multiplication Rate in Falciparum Malaria.

Kingston HW, Ghose A, Plewes K, Ishioka H, Leopold SJ, Maude RJ, Paul S, Intharabut B, Silamut K, Woodrow C, Day NPJ, Chotivanich K, Anstey NM, Hossain A, White NJ, Dondorp AM.

Open Forum Infect Dis. 2017 Dec 20;4(4):ofx169. doi: 10.1093/ofid/ofx169. eCollection 2017 Fall.

14.

Further Clinical Delineation of the MEF2C Haploinsufficiency Syndrome: Report on New Cases and Literature Review of Severe Neurodevelopmental Disorders Presenting with Seizures, Absent Speech, and Involuntary Movements.

Vrečar I, Innes J, Jones EA, Kingston H, Reardon W, Kerr B, Clayton-Smith J, Douzgou S.

J Pediatr Genet. 2017 Sep;6(3):129-141. doi: 10.1055/s-0037-1601335. Epub 2017 Apr 12. Review.

15.

Measuring the Plasmodium falciparum HRP2 protein in blood from artesunate-treated malaria patients predicts post-artesunate delayed hemolysis.

Ndour PA, Larréché S, Mouri O, Argy N, Gay F, Roussel C, Jauréguiberry S, Perillaud C, Langui D, Biligui S, Chartrel N, Mérens A, Kendjo E, Ghose A, Hassan MMU, Hossain MA, Kingston HWF, Plewes K, Dondorp AM, Danis M, Houzé S, Bonnefoy S, Thellier M, Woodrow CJ, Buffet PA; French Artesunate Working Group.

Sci Transl Med. 2017 Jul 5;9(397). pii: eaaf9377. doi: 10.1126/scitranslmed.aaf9377.

PMID:
28679662
16.

Cell-free hemoglobin mediated oxidative stress is associated with acute kidney injury and renal replacement therapy in severe falciparum malaria: an observational study.

Plewes K, Kingston HWF, Ghose A, Maude RJ, Herdman MT, Leopold SJ, Ishioka H, Hasan MMU, Haider MS, Alam S, Piera KA, Charunwatthana P, Silamut K, Yeo TW, Faiz MA, Lee SJ, Mukaka M, Turner GDH, Anstey NM, Jackson Roberts L 2nd, White NJ, Day NPJ, Hossain MA, Dondorp AM.

BMC Infect Dis. 2017 Apr 27;17(1):313. doi: 10.1186/s12879-017-2373-1.

17.

Familial childhood-onset progressive cerebellar syndrome associated with the ATP1A3 mutation.

Jaffer F, Fawcett K, Sims D, Heger A, Houlden H, Hanna MG, Kingston H, Sisodiya SM.

Neurol Genet. 2017 Mar 27;3(2):e145. doi: 10.1212/NXG.0000000000000145. eCollection 2017 Apr. No abstract available.

18.

Genotypic and phenotypic characterization of G6PD deficiency in Bengali adults with severe and uncomplicated malaria.

Plewes K, Soontarawirat I, Ghose A, Bancone G, Kingston HWF, Herdman MT, Leopold SJ, Ishioka H, Faiz MA, Anstey NM, Day NPJ, Hossain MA, Imwong M, Dondorp AM, Woodrow CJ.

Malar J. 2017 Mar 29;16(1):134. doi: 10.1186/s12936-017-1788-x.

19.

Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment.

Wiessner M, Roos A, Munn CJ, Viswanathan R, Whyte T, Cox D, Schoser B, Sewry C, Roper H, Phadke R, Marini Bettolo C, Barresi R, Charlton R, Bönnemann CG, Abath Neto O, Reed UC, Zanoteli E, Araújo Martins Moreno C, Ertl-Wagner B, Stucka R, De Goede C, Borges da Silva T, Hathazi D, Dell'Aica M, Zahedi RP, Thiele S, Müller J, Kingston H, Müller S, Curtis E, Walter MC, Strom TM, Straub V, Bushby K, Muntoni F, Swan LE, Lochmüller H, Senderek J.

Am J Hum Genet. 2017 Mar 2;100(3):523-536. doi: 10.1016/j.ajhg.2017.01.024. Epub 2017 Feb 9.

20.

ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy.

Böhm J, Bulla M, Urquhart JE, Malfatti E, Williams SG, O'Sullivan J, Szlauer A, Koch C, Baranello G, Mora M, Ripolone M, Violano R, Moggio M, Kingston H, Dawson T, DeGoede CG, Nixon J, Boland A, Deleuze JF, Romero N, Newman WG, Demaurex N, Laporte J.

Hum Mutat. 2017 Apr;38(4):426-438. doi: 10.1002/humu.23172. Epub 2017 Feb 2.

PMID:
28058752
21.

Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders.

Evers JM, Laskowski RA, Bertolli M, Clayton-Smith J, Deshpande C, Eason J, Elmslie F, Flinter F, Gardiner C, Hurst JA, Kingston H, Kini U, Lampe AK, Lim D, Male A, Naik S, Parker MJ, Price S, Robert L, Sarkar A, Straub V, Woods G, Thornton JM; DDD Study, Wright CF.

Hum Mol Genet. 2017 Feb 1;26(3):519-526. doi: 10.1093/hmg/ddw409.

22.

Defining Surrogate Endpoints for Clinical Trials in Severe Falciparum Malaria.

Jeeyapant A, Kingston HW, Plewes K, Maude RJ, Hanson J, Herdman MT, Leopold SJ, Ngernseng T, Charunwatthana P, Phu NH, Ghose A, Hasan MM, Fanello CI, Faiz MA, Hien TT, Day NP, White NJ, Dondorp AM.

PLoS One. 2017 Jan 4;12(1):e0169307. doi: 10.1371/journal.pone.0169307. eCollection 2017.

23.

Community engagement and education: addressing the needs of South Asian families with genetic disorders.

Khan N, Kerr G, Kingston H.

J Community Genet. 2016 Oct;7(4):317-323. Epub 2016 Sep 10.

24.

Responding to the increased genetic risk associated with customary consanguineous marriage among minority ethnic populations: lessons from local innovations in England.

Salway S, Ali P, Ratcliffe G, Such E, Khan N, Kingston H, Quarrell O.

J Community Genet. 2016 Jul;7(3):215-28. doi: 10.1007/s12687-016-0269-1. Epub 2016 Jun 16.

25.

Mean serum-level of common organic pollutants is predictive of behavioral severity in children with autism spectrum disorders.

Boggess A, Faber S, Kern J, Kingston HMS.

Sci Rep. 2016 May 13;6:26185. doi: 10.1038/srep26185.

26.

The Relationship between Poverty and Healthcare Seeking among Patients Hospitalized with Acute Febrile Illnesses in Chittagong, Bangladesh.

Herdman MT, Maude RJ, Chowdhury MS, Kingston HW, Jeeyapant A, Samad R, Karim R, Dondorp AM, Hossain MA.

PLoS One. 2016 Apr 7;11(4):e0152965. doi: 10.1371/journal.pone.0152965. eCollection 2016.

27.

Erratum to: the role of previously unmeasured organic acids in the pathogenesis of severe malaria.

Herdman MT, Sriboonvorakul N, Leopold SJ, Douthwaite S, Mohanty S, Hassan MM, Maude RJ, Kingston HW, Plewes K, Charunwatthana P, Silamut K, Woodrow CJ, Ghose A, Chotinavich K, Hossain MA, Faiz MA, Mishra S, Leepipatpiboon N, White NJ, Day NP, Tarning J, Dondorp AM.

Crit Care. 2015 Nov 2;19:382. doi: 10.1186/s13054-015-1116-1. No abstract available.

28.

Sequestration and Red Cell Deformability as Determinants of Hyperlactatemia in Falciparum Malaria.

Ishioka H, Ghose A, Charunwatthana P, Maude R, Plewes K, Kingston H, Intharabut B, Woodrow C, Chotivanich K, Sayeed AA, Hasan MU, Day NP, Faiz A, White NJ, Hossain A, Dondorp AM.

J Infect Dis. 2016 Mar 1;213(5):788-93. doi: 10.1093/infdis/jiv502. Epub 2015 Oct 22.

29.

Overview of 'Omics Technologies for Military Occupational Health Surveillance and Medicine.

Bradburne C, Graham D, Kingston HM, Brenner R, Pamuku M, Carruth L.

Mil Med. 2015 Oct;180(10 Suppl):34-48. doi: 10.7205/MILMED-D-15-00050. Review.

PMID:
26444891
30.

The role of previously unmeasured organic acids in the pathogenesis of severe malaria.

Herdman MT, Sriboonvorakul N, Leopold SJ, Douthwaite S, Mohanty S, Hassan MM, Maude RJ, Kingston HW, Plewes K, Charunwatthana P, Silamut K, Woodrow CJ, Ghose A, Chotinavich K, Hossain MA, Faiz MA, Mishra S, Leepipatpiboon N, White NJ, Day NP, Tarning J, Dondorp AM.

Crit Care. 2015 Sep 7;19:317. doi: 10.1186/s13054-015-1023-5. Erratum in: Crit Care. 2015;19:382. Ghose, Aniruddha [added].

31.

Comparative Accuracy of the InBios Scrub Typhus Detect IgM Rapid Test for the Detection of IgM Antibodies by Using Conventional Serology.

Kingston HW, Blacksell SD, Tanganuchitcharnchai A, Laongnualpanich A, Basnyat B, Day NP, Paris DH.

Clin Vaccine Immunol. 2015 Oct;22(10):1130-2. doi: 10.1128/CVI.00390-15. Epub 2015 Aug 19.

32.

Oculo-auriculo-vertebral spectrum: clinical and molecular analysis of 51 patients.

Beleza-Meireles A, Hart R, Clayton-Smith J, Oliveira R, Reis CF, Venâncio M, Ramos F, Sá J, Ramos L, Cunha E, Pires LM, Carreira IM, Scholey R, Wright R, Urquhart JE, Briggs TA, Kerr B, Kingston H, Metcalfe K, Donnai D, Newman WG, Saraiva JM, Tassabehji M.

Eur J Med Genet. 2015 Sep;58(9):455-65. doi: 10.1016/j.ejmg.2015.07.003. Epub 2015 Jul 20.

PMID:
26206081
33.

Severe falciparum malaria treated with artesunate complicated by delayed onset haemolysis and acute kidney injury.

Plewes K, Haider MS, Kingston HW, Yeo TW, Ghose A, Hossain MA, Dondorp AM, Turner GD, Anstey NM.

Malar J. 2015 Jun 18;14:246. doi: 10.1186/s12936-015-0760-x.

34.

Microvascular obstruction and endothelial activation are independently associated with the clinical manifestations of severe falciparum malaria in adults: an observational study.

Hanson J, Lee SJ, Hossain MA, Anstey NM, Charunwatthana P, Maude RJ, Kingston HW, Mishra SK, Mohanty S, Plewes K, Piera K, Hassan MU, Ghose A, Faiz MA, White NJ, Day NP, Dondorp AM.

BMC Med. 2015 May 27;13:122. doi: 10.1186/s12916-015-0365-9.

35.

The clinical implications of thrombocytopenia in adults with severe falciparum malaria: a retrospective analysis.

Hanson J, Phu NH, Hasan MU, Charunwatthana P, Plewes K, Maude RJ, Prapansilp P, Kingston HW, Mishra SK, Mohanty S, Price RN, Faiz MA, Dondorp AM, White NJ, Hien TT, Day NP.

BMC Med. 2015 Apr 24;13:97. doi: 10.1186/s12916-015-0324-5.

36.

A cleanroom sleeping environment's impact on markers of oxidative stress, immune dysregulation, and behavior in children with autism spectrum disorders.

Faber S, Zinn GM, Boggess A, Fahrenholz T, Kern JC 2nd, Kingston HM.

BMC Complement Altern Med. 2015 Mar 19;15:71. doi: 10.1186/s12906-015-0564-0.

37.

Evaluation of Dietary Supplement Contamination by Xenobiotic and Essential Elements Using Microwave-Enhanced Sample Digestion and Inductively Coupled Plasma-Mass Spectrometry.

Zinn GM, Rahman GM, Faber S, Wolle MM, Pamuku M, Kingston HM.

J Diet Suppl. 2016;13(2):185-208. doi: 10.3109/19390211.2015.1008610. Epub 2015 Mar 2.

PMID:
25730528
38.

Molecular speciated isotope dilution mass spectrometric methods for accurate, reproducible and direct quantification of reduced, oxidized and total glutathione in biological samples.

Fahrenholz T, Wolle MM, Kingston HM, Faber S, Kern JC 2nd, Pamuku M, Miller L, Chatragadda H, Kogelnik A.

Anal Chem. 2015 Jan 20;87(2):1232-40. doi: 10.1021/ac503933t. Epub 2015 Jan 8.

PMID:
25519489
39.

An accurate and transferable protocol for reproducible quantification of organic pollutants in human serum using direct isotope dilution mass spectrometry.

Boggess AJ, Rahman GM, Pamukcu M, Faber S, Kingston HM.

Analyst. 2014 Dec 7;139(23):6223-31. doi: 10.1039/c4an00851k.

PMID:
25302342
40.

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.

Ansari M, Poke G, Ferry Q, Williamson K, Aldridge R, Meynert AM, Bengani H, Chan CY, Kayserili H, Avci S, Hennekam RC, Lampe AK, Redeker E, Homfray T, Ross A, Falkenberg Smeland M, Mansour S, Parker MJ, Cook JA, Splitt M, Fisher RB, Fryer A, Magee AC, Wilkie A, Barnicoat A, Brady AF, Cooper NS, Mercer C, Deshpande C, Bennett CP, Pilz DT, Ruddy D, Cilliers D, Johnson DS, Josifova D, Rosser E, Thompson EM, Wakeling E, Kinning E, Stewart F, Flinter F, Girisha KM, Cox H, Firth HV, Kingston H, Wee JS, Hurst JA, Clayton-Smith J, Tolmie J, Vogt J, Tatton-Brown K, Chandler K, Prescott K, Wilson L, Behnam M, McEntagart M, Davidson R, Lynch SA, Sisodiya S, Mehta SG, McKee SA, Mohammed S, Holden S, Park SM, Holder SE, Harrison V, McConnell V, Lam WK, Green AJ, Donnai D, Bitner-Glindzicz M, Donnelly DE, Nellåker C, Taylor MS, FitzPatrick DR.

J Med Genet. 2014 Oct;51(10):659-68. doi: 10.1136/jmedgenet-2014-102573. Epub 2014 Aug 14.

41.

Reversibility of retinal microvascular changes in severe falciparum malaria.

Maude RJ, Kingston HWF, Joshi S, Mohanty S, Mishra SK, White NJ, Dondorp AM.

Am J Trop Med Hyg. 2014 Sep;91(3):493-495. doi: 10.4269/ajtmh.14-0116. Epub 2014 Jun 16.

42.

Magnetic resonance imaging of the brain in adults with severe falciparum malaria.

Maude RJ, Barkhof F, Hassan MU, Ghose A, Hossain A, Abul Faiz M, Choudhury E, Rashid R, Abu Sayeed A, Charunwatthana P, Plewes K, Kingston H, Maude RR, Silamut K, Day NP, White NJ, Dondorp AM.

Malar J. 2014 May 9;13:177. doi: 10.1186/1475-2875-13-177.

43.
44.

Method development for the redox speciation analysis of iron by ion chromatography-inductively coupled plasma mass spectrometry and carryover assessment using isotopically labeled analyte analogues.

Wolle MM, Fahrenholz T, Rahman GM, Pamuku M, Kingston HM, Browne D.

J Chromatogr A. 2014 Jun 20;1347:96-103. doi: 10.1016/j.chroma.2014.04.066. Epub 2014 Apr 28.

PMID:
24819017
45.

Speciation analysis of arsenic in prenatal and children's dietary supplements using microwave-enhanced extraction and ion chromatography-inductively coupled plasma mass spectrometry.

Wolle MM, Rahman GM, Kingston HM, Pamuku M.

Anal Chim Acta. 2014 Mar 25;818:23-31. doi: 10.1016/j.aca.2014.01.060. Epub 2014 Feb 10.

PMID:
24626399
46.

Leri's pleonosteosis, a congenital rheumatic disease, results from microduplication at 8q22.1 encompassing GDF6 and SDC2 and provides insight into systemic sclerosis pathogenesis.

Banka S, Cain SA, Carim S, Daly SB, Urquhart JE, Erdem G, Harris J, Bottomley M, Donnai D, Kerr B, Kingston H, Superti-Furga A, Unger S, Ennis H, Worthington J, Herrick AL, Merry CL, Yue WW, Kielty CM, Newman WG.

Ann Rheum Dis. 2015 Jun;74(6):1249-56. doi: 10.1136/annrheumdis-2013-204309. Epub 2014 Jan 17.

PMID:
24442880
47.

SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome.

Krieger M, Roos A, Stendel C, Claeys KG, Sonmez FM, Baudis M, Bauer P, Bornemann A, de Goede C, Dufke A, Finkel RS, Goebel HH, Häussler M, Kingston H, Kirschner J, Medne L, Muschke P, Rivier F, Rudnik-Schöneborn S, Spengler S, Inzana F, Stanzial F, Benedicenti F, Synofzik M, Lia Taratuto A, Pirra L, Tay SK, Topaloglu H, Uyanik G, Wand D, Williams D, Zerres K, Weis J, Senderek J.

Brain. 2013 Dec;136(Pt 12):3634-44. doi: 10.1093/brain/awt283. Epub 2013 Oct 30.

48.

Determination of chromium species in dietary supplements using speciated isotope dilution mass spectrometry with mass balance.

Martone N, Rahman GM, Pamuku M, Kingston HM.

J Agric Food Chem. 2013 Oct 16;61(41):9966-76. doi: 10.1021/jf403067c. Epub 2013 Oct 7.

PMID:
24059850
49.

Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease.

Jenkinson EM, Rehman AU, Walsh T, Clayton-Smith J, Lee K, Morell RJ, Drummond MC, Khan SN, Naeem MA, Rauf B, Billington N, Schultz JM, Urquhart JE, Lee MK, Berry A, Hanley NA, Mehta S, Cilliers D, Clayton PE, Kingston H, Smith MJ, Warner TT; University of Washington Center for Mendelian Genomics, Black GC, Trump D, Davis JR, Ahmad W, Leal SM, Riazuddin S, King MC, Friedman TB, Newman WG.

Am J Hum Genet. 2013 Apr 4;92(4):605-13. doi: 10.1016/j.ajhg.2013.02.013. Epub 2013 Mar 28.

50.

Trouble with ataxia: A longitudinal qualitative study of the diagnosis and medical management of a group of rare, progressive neurological conditions.

Daker-White G, Ealing J, Greenfield J, Kingston H, Sanders C, Payne K.

SAGE Open Med. 2013 Sep 28;1:2050312113505560. doi: 10.1177/2050312113505560. eCollection 2013.

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